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Subject: misc.kids FAQ on Prenatal Testing - Overview and Personal Stories

This article was archived around: 21 May 2006 04:22:35 GMT

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------------------------------------------------------------ ------------------------------------------------------------ Misc.kids Frequently Asked Questions Prenatal Testing - Overview and Personal Stories ===================================================================== Collection maintained by: Lynn Gazis-Sax (gazissax@netcom.com) To contribute to this collection, please send e-mail to the address given above, and ask me to add your comments to the FAQ file on Prenatal Testing - Overview and Personal Stories. Please try to be as concise as possible, as these FAQ files tend to be quite long as it is. And, unless otherwise requested, your name and e-mail address will remain in the file, so that interested readers may follow-up directly for more information/discussion. For a list of other FAQ topics, ftp to the pub/usenet/misc-kids directory of rtfm.mit.edu or tune in to misc.kids.info. ===== Copyright 1995, Lynn Gazis-Sax. Use and copying of this information are permitted as long as (1) no fees or compensation are charged for use, copies or access to this information, and (2) this copyright notice is included intact. ==== ===================================================================== [NOTE: this is information collected from many sources and while I have strived to be accurate and complete, I cannot guarantee that I have succeeded. This is not medical advice. For that, see your doctor or other health care provider.] ===================================================================== Acknowledgements: Many people helped with the prenatal testing FAQs by advising about the best way to structure them, by contributing stories and information, or by reviewing versions of the FAQs. I would like to acknowledge: Belinda J.F. Rossiter, Kathy S Leggitt, Fulvia Pilat, Maurine Neiberg, Lori May, Sabrina Cuddy, Robert Brenner MD, Dr. T. Reynolds, Thunder Storm, Marion Baumgarten, Robin Elise Seibert, Michelle Kraiman Gross, Liz Farrell, Marya E Vanthul, Tracy Lee Murphy, Trish Jalbert, Dena Rollo and the women who contributed their experiences with the tests. (Of course, I am responsible for any mistakes, etc.) ===================================================================== Note on language: When I first posted the questions for the prenatal testing FAQs, I used the term "birth defects" (except for question 7 of the Prenatal Testing Overview FAQ). Since I have been advised that this term may be offensive to people in the disabled community, I changed the wording of the final FAQs to use the word "disability," but most replies still reflect the original wording of the questions. ===================================================================== I. General Questions Q1. What prenatal tests are available? Blood testing: screening for carriers of various disabilities (most commonly Tay-Sachs and sickle cell anemia), blood typing to determine Rh factor, tests of antibodies (e.g. to determine immunity to rubella or measles or exposure to HIV). The more common tests to screen for disabilities are the AFP or Triple Screen or Down screen (different names for this test depend on how many factors are being screened), ultrasound, amniocentesis, chorionic villus sampling; ultrasound is also used for various other purposes. More experimental methods of screening for disabilities include PUBS (percutaneous umbilical cord sampling, in which fetal blood is obtained from the umbilical cord), fetoscopy, cell sorting, and fetal skin sampling; these methods are not available everywhere, and some are available only in a few research centers. Pregnant women may also be tested for gestational diabetes, and some women late in pregnancy will receive stress and non-stress tests. There are misc.kids FAQs available on the AFP, ultrasound, amniocentesis, prepregnancy and pregnancy tests, Rh factor, and gestational diabetes. Q1a. Why are certain tests suggested for a specific sub-population, eg Tay-sachs for European Jews; toxoplasmosis for cat-owners; Downs for over-35 y.o. ----------------------------------------- From Robbrenner@aol.com (Robert Brenner MD): 1a. Tay Sachs testing is recommended for Jews of eastern European heritage because these are the people who are the most likely to carry the gene. Testing should be done prior to pregnancy as it is more accurate. Most cases of toxoplasmosis are not caused from cats but from poorly cooked meat. Therefore, toxoplasmosis testing for cat owners is probably not necessary. Down syndrome screening is available for all pregnant women by a blood test called the triple screen. It consists of serum alpha-fetoprotein, estriol, and HCG. Amniocentesis with chromosomal analysis is the most accurate test. The reason amniocentesis is offered to women age 35 and older is because the risk of losing a pregnancy after amniocentesis is the same as the risk of Down syndrome at age 35 (1 in 270). ----------------------------------------- There is a FAQ in the pub/usenet/rec-pets-cats directory of rtfm.mit.edu which includes some discussion of toxoplasmosis and cat ownership, for those who want more details on that. Q1b. Is there a certain time sequence that the tests should be done wrt conception and pregnancy? ----------------------------------------- From Robbrenner@aol.com (Robert Brenner MD): 1b. Blood testing for immunity to Rubella and Tay-Sachs testing should be done prior to conception. Blood testing for HIV and sickle cell can be done either prior to or after conception. Serum alpha-fetoprotein and triple screen for Down syndrome are done at 16-18 weeks. The ideal time to pick up structural congenital anomalies on ultrasound is 16-18 weeks. ----------------------------------------- 1c. What are some further sources of information about prenatal tests? ----------------------------------------- From Kathy S Leggitt: In my childbirth classes I like to handout Penny Simkin's brochure called "Obstetric Tests and Technologies". This is available individually, or in a group of brochures called the "Better Baby Series." They are really good brochures for an overview on many topics, and the Obstetric Tests and Technologies one is very well written. They can be ordered from the International Childbirth Education Association, P. O. Box 20048, Minneapolis, MN 55420-0048. ----------------------------------------- _Prenatal Tests_ by Robin Blatt is a consumer's guide to prenatal tests. Some books which address issues related to prenatal testing: _The Tentative Pregnancy_, by Barbara Katz Rothman, _Women and Prenatal Testing_, edited by Karen H. Rothenberg and Elizabeth J. Thomson, and _Exploding the Gene Myth_, by Ruth Hubbard and Elijah Wald (Beacon Press, 1992). Q2. Disabilities Q2a. What disabilities can be detected by these tests? ----------------------------------------- From Robbrenner@aol.com (Robert Brenner MD): 2a. There are too numerous birth defects to list. In general prenatal testing can pick up all chromosomal abnormalities, many structural abnormalities, and many metabolic abnormalities. ----------------------------------------- Two of the most common disabilities which are tested for are Down Syndrome and neural tube defects. Some information on these follows. Neural tube defects are one of the leading disabilities among newborns. The main neural tube defects are anencephaly and spina bifida. Infants with anencephaly are born with a malformed brain and skull; they are stillborn or die shortly after birth. Spina Bifida occurs when the spinal cord does not completely close. Until the 1960's, many newborns died of hydrocephalus. Now 80-95% survive to adulthood. The degree of disability varies depending on how severely the spinal cord has been affected and where on the spinal cord the problem occurs. It may involve a slight limp, or paralysis and use of a wheelchair. People with spina bifida may be incontinent, and some have kidney and urinary tract problems. Intelligence is not affected unless the complication of hydrocephalus is present. If hydrocephalus is present, intelligence may be either impaired or normal, depending on the degree of hydrocephalus, and the success of surgical intervention. Neural tube defects are influenced both by genetics and by the environment. There is a lot of geographic variation in frequency, with incidence in the United Kingdom several times that in the Unites States. In the United Kingdom, incidence is highest in northern Ireland and lowest in southern England. The frequency of neural tube defects is *reduced* by taking folic acid during pregnancy (women planning to be pregnant should start this before pregnancy, so as to be taking it during the time when they do not yet know they are pregnant). Spina bifida may be ameliorated by delivery by a scheduled C-section (see below). ----------------------------------------- From Trish Jalbert (tjalbert@best.com): In a nutshell, Down Syndrome is the presence of three 21st chromosomes. There are actually three types of Down Syndrome, the most common being Trisomy 21 which is simply the presence of the pesky extra chromosome tacked on to the other two (95% of cases). In Translocational DS the extra chromosome is translocated, or stuck on to, one of the other chromosomes (3 to 4%). In Mosaicism, the person has the extra chromosome in only some of his or her cells (1%). It is important to find out which type of DS someone has, since Translocational DS is hereditary. The parents can be carriers without showing any signs of Down Syndrome themselves. One really important fact for us guilt-machine moms is that new research shows that in 70 to 80% of the time, it is the egg that contributes the extra 21st and the rest of the time it's the sperm. (Sperm with problems just aren't very hearty , I have been told.) So it's not always the mom! There are numerous effects. Some 12% of babies with Down Syndrome have gastrointestinal defects, and some 40% have heart defects. Both of these types of defects are correctable with surgery, although it is scary to have your baby have such a problem. DS kids also seem to have a susceptibility to infections. There can be hearing problems, thyroid problems and a few other things. DS babies also tend to have low muscle tone, which means that they may learn to crawl, walk and such like later than their regular peers. Most everyone is aware of the cognitive delays. Although I don't particularly like to judge anybody by their IQ score, DS people tend to have IQ's from 40 to 70, which counts as moderate to mild impairment. Some people score higher, some lower. I cannot stress enough, however, that DS babies, children and adults are more like their relatives and like the rest of us than they are different. My daughter looks *just like* my husband. (It's actually rather eerie.) Many people seem to have heard of the stereotype of DS kids as being extremely loving people. While no stereotype accurately represents a person, I think every one is hitting on the fact that DS kids do develop quite well socially. This is *not* like parenting a child who is autistic. My daughter, who was extremely ill at birth due to meconium aspiration as well as a heart defect, recognized my husband and me very early on and acted much differently when we were at the hospital visiting her. (she spent 7 weeks in intensive care at birth.) My husband and I have a joke about things like this. We like to say "You know, DS kids usually don't (fill in blank)." The reality now is that we *don't know* the potential of today's babies born with DS. Children with DS have only recently been offered adequate schooling and in the past were also sometimes denied the love of their families, since many were sent to live in institutions. Kids and adults with DS are now astonishing us all. Remember Chris Burke on "Life Goes On?" Yes, babies with DS probably take extra work. Although a large number of them are perfectly healthy, a lot of parents do have major medical problems to deal with. When that is done, there is early intervention to think about, then school. Many kids with DS are now being fully included in regular classrooms, although that option is not for all families. Many adults can live is supported environments on their own- parents will not always have to care for their DS child. For me, all of the hassle has been worth it- I already cannot imagine my life without Miranda, who is now 3 months old. She is a very sweet baby- even unbiased people think so, so it must be true! ;-) And I am writing this on the eve of her heart surgery, something that would task any parent's coping. It still has all been worth it. [Note from LG: Miranda died during that heart surgery. Trish would like me to reassure people that what happened to Miranda was rare, rare enough that a paper is being written about her. Trish is still willing to answer people's emailed questions about Down Syndrome.] ----------------------------------------- Q2b. What disabilities can not be detected by any currently available prenatal test? ----------------------------------------- From Robbrenner@aol.com (Robert Brenner MD): 2b. There are many birth defects that can't be picked up on prenatal testing, specifically mental retardation and cerebral palsy. The list is too numerous to mention. ----------------------------------------- Q2c. For which disabilities can early detection help with pre-natal care and delivery? In most cases, prenatal treatment is not available, and prenatal testing is used to give parents a choice of whether to continue the pregnancy or have an abortion, or to give parents an opportunity to prepare to care for a child with a disability. In some cases, prenatal diagnosis can also affect medical treatment. First, while prenatal treatments are rare and often experimental, there are prenatal treatments for some problems. For example, fetal surgery can be done for diaphramatic hernia and complete bladder obstruction, steroid hormones can be given before birth for congenital adrenal hyperplasia, biotin dependence and MMA (methylmalonic acidemia), both life threatening, can be detected and treated in the womb. More commonly, prenatal diagnosis can be useful at delivery time. In particular, there is some evidence that children with spina bifida can benefit from being delivered by scheduled C-section. A study published in the New England Journal of Medicine on March 7, 1991 indicates that babies with spina bifida may be much less likely to be paralyzed if delivered by C-section. 16% of the babies in the study who were delivered vaginally or by C-section after labor had begun had no paralysis. But 45% of the babies delivered early by C-section had no or minimal paralysis. This may translate into whether or not children walk. ----------------------------------------- From Robbrenner@aol.com (Robert Brenner MD): 2c. Early detection can be of benefit with all types of birth defects in giving the couple the option to either terminate the pregnancy or prepare for the delivery of an affected child. Anencephaly is incompatible with life so that termination is quite reasonable. In those couples who object to termination, they can consider organ donation after the baby is born. Many chromosomal anomalies are also incompatible with life beyond 1 year of age (trisomy 18). There are also many structural defects such as diaphragmatic hernia, encephalocele, meningomyelocele, hydrocephalus, various cardiac and GI abnormalities where delivery in a tertiary care center with pediatric surgery available will benefit the baby. Please be aware that this list is far from complete but these are just a few common examples. ----------------------------------------- Q2d. What are some sources of more information about the disabilities which these tests detect? There are many organizations which can provide more information, support, and an opportunity to talk with parents with experience with particular disabilities. These include the March of Dimes, the National Organization for Rare Disorders (NORD), the Cooley's Anemia Foundation, the National Association for Sickle Cell Disease, the Cystic Fibrosis Foundation, the Spina Bifida Association of America, the National Tay-Sachs and Allied Diseases Association, the Support Organization For Trisomy 13/18 (SOFT), and others too numerous to name for a variety of disabilities. Addresses and phone numbers for some of these organizations can be found in _Prenatal Tests_ by Robin Blatt, as well as in _Reaching Out: A Directory of Voluntary Organizations in Maternal and Child Health_, published by the National Center for Education in Maternal and Child Health (1985); 8201 Greensborough Drive; Suite 600; McLein, Virginia 22102. In some cases, newsgroups and mailing lists can also be found on the net. For example, alt.support.spina-bifida, bit.listserv.downsyn-l, the our-kids mailing list for parents of developmentally disabled children (the address for which can be found in the misc.kids FAQ list). A list of mailing lists on the Internet is maintained by Stephanie da Silva and regularly posted to news.answers. A list of support newsgroups is maintained by John Grohol and also posted to news.answers regularly. Both of these files can be retrieved by ftp from rtfm.mit.edu, or requested from the mail server there (to find out how to use this mail server, send a message to mail-server@rtfm.mit.edu with the subject "help"). ----------------------------------------- From Trish Jalbert (tjalbert@best.com): There are lots of sources of info for Down Syndrome, since it is one of the most common birth defects, occuring in approximately 1 out of 800 live births. Actually, since about 75% of fetuses with Down Syndrome miscarry, researchers think that it actually occurs in 1 of 100 to 200 pregnancies. (I found this amazing.) It is very important to read RECENT literature, as much has changed in our knowledge base and in our attitudes about people with disabilities. Online resources include: *The Down-Syndrome Mailing List. I've temporarily misplaced the address for subscriptions- I'll dig it up and send it as soon as I can. *AOL's Support Groups- Look under the disABILITIES area. There are chat groups for parents, one specifically for parents of babies, and talk of adding one for sibs. Other resources: *The National Down Syndrome Congress 1-800-232-6372 *The National Down Syndrome Society 1-800-221-4602 Both the DS Congress and the DS Society will send you free info and put you in touch with local parent support groups. * A good basic book to read: Babies with Down Syndrome- A New Parents Guide, edited by Karen Stray-Gundersen, Woodbine House 1986 Also, I would welcome questions. If I don't know the answer, there are other people I know online who could answer. My e-mail address is: Tjalbert@aol.com ----------------------------------------- From Belinda J.F. Rossiter (rossiter@bcm.tmc.edu): I had asked whether there was any collection of information about genetic diseases on the Internet, written for the general public. The short answer is that no there isn't, as far as I can tell, unless you happen to be a Compuserve subscriber in which case you can access the NORD (National Organization for Rare Disorders) database. I'm sure that such a resource will eventually become generally available, but it's not clear who will actually do this. Here's what I found out in a bit more detail, with the aid of several helpful e-mail replies (thank you!): To my knowledge, there is no universally available Internet source of information about genetic diseases that is designed for the lay public. The OMIM (Online Mendelian Inheritance in Man), accessed through the Genome Data Base home page at "http://gdbwww.gdb.org/", is a comprehensive database of inherited traits but is too detailed and technical for a general reader. Various indexes of health resources on the WWW include the HealthNet WWW Demonstration Project at "http://debra.dgbt.doc.ca/~mike/healthnet/home.html" and the Health Resources list at "http://alpha.acast.nova.edu/medicine.html". These indexes contain links to many useful health-related resources, but I didn't find anything that provided lay information on genetic diseases. A few specific disease organizations, such as the Aneurysm Information Project at "http://www.columbia.edu/~mdt/" have their own WWW pages, but again not much if anything that is genetic. NORD (the National Organization for Rare Disorders) provides written material about hundreds of rare diseases (including but not restricted to genetic disorders) on request. Two of the objectives of this organization are (1) to educate the general public and medical profession about the existence, diagnosis, and treatment of rare disorders; and (2) to act as a clearinghouse for information about rare disorders and to network families with similar disorders together for mutual support. NORD has a WWW home page at "http://www.w2.com/nord1.html", through which it is possible to access a list of the diseases described and to order reprints at $5 per article. The database itself cannot be accessed through the Internet except by Compuserve subscribers. The other thing I found out is that the NIH is building a database of lay-type information on genetic and other diseases, called the Combined Health Information Database. The first upload should be later this year, and it should be generally available. ----------------------------------------- Several values questions (probably best addressed by a collection of personal stories): Q3. How have people decided whether the tests are worthwhile for them? ----------------------------------------- From Trish Jalbert (tjalbert@best.com): I really think that anyone who does do these tests and finds out that they are at risk of or are carrying a baby with a birth defect should educate themselves through literature rather than the word of medical staff so they will learn the whole truth about the situation. I took the AFP, which I had heard was a very unreliable test. I came up at being at increased risk for a Down Syndrome- I am 25, so it went from something like 1 in 1500 to 1 in 33. Still, I rationalized that that was a 3% risk. And they could not see any of the tell-tale features with an ultrasound-slightly short legs and skin folds on the back of the neck (these go away as the baby grows). I find that ironic, as Miranda has both! Two people I have met since her birth who have babies with DS came up with no increased risk. And lest all you young people think you are immune- more babies with DS are born to moms who are younger rather than older, since more babies are born to younger women period. It's just that the risk is higher as you age. After this, and a genetic counselor who told me that since I had felt her kick already and "you don't feel DS babies kick until really late" - big myth- I didn't have an amnio. We decided not to because we would have kept her anyway and we figured there was no point in risking it. Some people might want to know, however. I also took the other test, which shows if you have a kid with neural tube defects and such. I was far more concerned with that kind of stuff for some reason. I also had 4 ultrasounds, due to one reason and another- it was a difficult pregnancy for reasons unrelated to the DS. Ultrasounds are great- no risk to anyone, lots of info. Besides, you get cute pictures of your baby swimming around in there. ----------------------------------------- Anonymous response 2: We decided we mainly wanted to be prepared if something was going to be wrong with our baby. That is why we had pre-natal tests. I would do so again in any future pregnancies. I particularly feel ultrasounds are valuable as the dr. can detect if the baby is not growing correctly, etc. and also get a better idea as to estimated due date. ----------------------------------------- From Maurine Neiberg (maury@turing.eecs.uic.edu): We actually went through two rounds of thinking about prenatal testing. There's Cystic Fibrosis in my mothers family (2 of her cousins have it, and there were different presentations of the disease). I highly recommend getting tested for genetically linked diseases before you get pregnant. It turns out that CF is the most common genetically linked disease. In the Caucasian population CF occurs in 1 in 2000 births. In the general population, the chance of being a carrier of the CF gene is 1 in 22. There are 400 different genetic mutations responsible for CF, but labs only test for (approx.) the most common 25 or so mutations for your ethnic group. This testing detects approx. 89.1% of mutations. If you have CF in your family, there is greater risk, and you are best off if you can get ther records of any genetic testing the affected person or people have had. If you know which mutation to look for, you can absolutely test for it. Unfortunately, my relative with CF who is still living was either unable or unwilling to provide us with the information, so we just tested for the usual mutations. This is the other reason to think about testing before the pregnancy, since it'll give you more time to access your relatives medical records. There aren't many labs in the U.S. that do genetic (as opposed to chromosonal) testing. Ours were sent to Baylor, and we're still trying to get payment figured out. Even though there is only CF in my family, the genetics department here at Northwestern highly recommended that both of us be tested, and if only one of us were to be tested, it should be my husband, since we could be more sure that way. Genetic testing for CF cost $125 for each genetic analysis. We both tested negative for CF, and we got results when I was 15 weeks pregnant. Aside: A friend of mine who is now pregnant realized at her first prenatal visit that, since she is of French Canadian heritage that she could be a Tay Sachs carrier. Being Catholic, it hadn't ever occured to her. Her genetic counsellor told her that the test for being a Tay Sachs carrier is not reliable during pregnancy, so if her husband is a carrier, they should test the baby. It would be interesting to hear what others have to say about this. We also did the Triple-Screen, or what my practice calls a Pan-MSAFP at 15 weeks. It came back (4 days later) with an elevated risk for Downs Syndrome. I'm 30, so the apriori risk for Downs was approx. 1 in 750. The aposteriori risk was 1 in 210. We had thought carefully about how we felt about prenatal testing, and being trained scientists, understand the aprior and aposteriori risk assessment. I was sort of ambivalent about the triple-screen, but felt strongly that if it came back "bad" that we would do the amnio. I was suprised at how upset I was about the test results and about the amnio, since we had made the decision to do it much earlier. I think it was in part because the risk was so close to the risk of something bad happening from the amnio. We got the call about the Pan-MSAFP on Friday at 5:00, and thus had the whole weekend to fret about it. Our midwife told us to call her over the weekend, which helped some. It was her assesment that a level-2 U/S wouldn't take the place of amnio, and would be inconclusive at best, and that we were best off just doing the amnio and spending less time at the hospital. In retrospect, I think that she was absolutely right. We scheduled the amnio for Wed. morning. There were 3 couples going through this at once. They showed us a silly video that explained in very simple terms what is tested for and what is not, and what the procedure entails. We then all met with a genetic counsellor to answer general questions. We then split up for individual genetic counselling. At this point, we got to see the precise results of the triple-screen. The AFP itself was normal-high, and actually _decreased_ the risk of Downs. uEstriol gave us a slightly elevated risk of Downs, but the HCG is what changed the odds so much. It made me feel better to get all of the data. BTW, our genetic counselling was done by the head of the Genetics Department, in part the first time and in full the second time, and telling him that my husband is a mathematician helped us get more information. He also asked if I'd participate in a study they are doing to find fetal cells in maternal blood. They are looking for XY chromasomes in maternal blood and verifying with the amnio results. We were the only couple of the 3 who were asked to participate, but we may have been the most outwardly calm. We read and signed an informed consent form, which asked us in two different places wheter or not we wanted to know the sex of the baby, and if we wanted our practitioner to know. We decided against knowing, though my husband was definitively voting the other way. The informed consent form said that the risk from the amnio is 1 in 200, or .5%. We were told that Northwestern's results were actually better than that, as are the results in any teriary care center where they have a dedicated amnio team who does a lot of amnios, but the American College of Obstetrics and Gynecology (and perhaps the state) requires them to provide the 1:200 number on their informed consent form. Apparently this is different in New York City. A friend of mine who is 33, with an apriori risk of Downs of 1:600 was told that the risk of the amnio was the same as her apriori risk. I'm not sure if my friend got it right, or if she only heard what she wanted to hear. After the genetic counselling, we joined many people, including the 2 other couples we started with, in the U/S waiting room. After about 45 minutes, we were put in an U/S room, and the U/S tech did a very thourough U/S, though she kept stopping the action, so I was convinced that the baby wasn't moving. The U/S was projected only a large TV suspended from the ceiling, so my husband was out of the way, but could see everything. Then the Amnio doctor came in, found a spot above the baby's head, tapped me, which I could see on the amnio, and then prepped me. Amnio is an invasive procedure, so they try to have a sterile area. I was draped, and my stomach scrubbed, though I didn't have to undress. The doctor tapped again, and then administered a local anesthetic. The anesthesia is only for my skin and abdomine, and was not administered to the uterus, because they don't want the baby to be anesthitized. So when he inserted the amnio needle, which is huge (I primarily looked at the U/S, not at me) I didn't feel anything until he hit my uterus. Then it hurt. He said that it would be no worse than menstrual cramps, but this was a sharp pain, and I could feel the needle go through the uterus. Unlike when they take blood, I could not feel the amniotic fluid leave me. It was over very quickly. They told us about warning signs, and the doctor squrted some amniotic fluid on my fingers so that I could tell the difference between leaking amniotic fluid and urine. It looks like urine, (it's pale yellow) but has no real odor. The real danger in amnio is infection of the amniotic fluid. All risk of that is gone in 3 weeks. The other fear is leaking amniotic fluid. If all of the fluid leaks out, the baby will be stillborn. I leaked a very small amount, very slowly, and immediately went to the midwife's office. The U/S showed lots and lots of amniotic fluid, and that my cervix was tightly closed. I was told that if I was still leaking in 2 days to come back. The leaking stopped that night. ----------------------------------------- Anonymous response 3: I had three ultrasounds, mostly because my ob/gyn is an ultrasonographer. None of the ultrasounds caught that my daughter is missing her left arm below the elbow from amniotic banding. I am glad I didn't know, because I would have worried that the missing hand&arm was just the tip of the iceberg, and that she had a whole bunch of other things wrong with her. I have been told that it is actually more common for a distal limb defect to be one part of a larger genetic problem, than for it to be an isolated problem. Amniotic banding occurs in about 1 every 5,000 to 10,000 births. I assume you are familiar with this--if not, email me and I will send an explanation. In any future pregnancies, I plan on having a level 2 US, just for peace of mind. I'm not worried about this problem repeating itself, becauseI consider it to be a minor one. I'm more worried about something else being wrong. Once you have a baby who is not textbook perfect, it makes you feel very vulnerable. You no longer have that "it could never happen to me" safe feeling. It is as if the door to birth defect city has been opened, and now anything could happen. ----------------------------------------- Anonymous response 4: We've decided to go with the ultrasound alone. While there are no risks associated with the AFP, we wouldn't know what to do with a positive result other than worry. (We don't want to do an amnio, and we certainly wouldn't abort given just the [highly unreliable] AFP.) If something is drastically wrong, it will probably show up on the ultrasound. Else, we'll just have to cross that bridge when we come to it. ----------------------------------------- Anonymous response 6: I'd say with my first pregnancy that we were just naive and in awe of the process we were going through. My doctor didn't PUSH the AFP, but I went ahead and had it. It came back "borderline" high. Retest was the same. We went through a lot after that (although not near as much as some people, I'd say), and our first response to the possibility of having the test with a subsequent pregnancy was NO. But, overall, we feel like we truly did gain information, and while we didn't have to go so far as deciding whether to abort or not, I think it was a first step in preparing us for the problems we were to face (premature birth). ----------------------------------------- Anonymous response 7: For us it was a combination of things. We decided to have a US done for the following reasons: a) fetal age. The doctor was insisting that I was X weeks pregnant, even if I was measuring a little small. I said I didn't think so, because I have genetic amenorhea, and I showed zilch for symptoms during the first eight weeks, according to his date. b) my fiance' had spent several years guarding nuclear missles in the military, at levels an order of magnitude higher than what is acceptable now. c) He also went to desert storm, along with the full compliment of shots. We had both heard that some nasty anomalities (like missing limbs) had been occuring in the desert storm babies. ----------------------------------------- From Dena Rollo (rollo@xylogics.com): I was 37 when Isabel was born, and did not even consider not having amnio done - I really wanted the information and the reassurance; fully expected to find out that the baby was perfectly healthy; and was sure that I'd choose to terminate the pregnancy if we found out otherwise. I also *really* wanted a girl, as did Michael (my partner), and I wanted to know the baby's gender, in order to prepare myself so I'd feel positive about a boy if that's what it was. But Michael didn't want to know gender, so I agreed to not find out. ----------------------------------------- Anonymous response 8: I decided to get the amnio based on my age (36 at the time) and the fact that I was single: if there was anything wrong, knowing about it ahead of time would give me a chance to prepare. ----------------------------------------- Anonymous response 9: At my visit, around week 12, the Specialist gave me a form and told me that some more routine blood tests were required. I was told to go and have the test done at the 17th week. This was rather confusing for me, because I did not agree with his method of calculating the pregnancy dates. I ovulate on the 21st day of my cycle, and pregnancy is always calculated from the LMP. So, I had the test done at 16 weeks, not 17. As I was unaware of the high outcome of false positives and negatives, I opted for the test, as I would have the pregnancy terminated if the baby was downs or had spina bifida. ----------------------------------------- Q4. Are there benefits for people who would not abort, and, if so, are they large enough to be worth doing the test? ----------------------------------------- From Robbrenner@aol.com (Robert Brenner MD): 4. Prenatal testing is beneficial even for those who aren't willing to terminate the pregnancy. I have addressed this issue in the above answers. (see answer to 2c) ----------------------------------------- From Trish Jalbert (tjalbert@best.com): I could see that some people would like to know beforehand so that they could prepare themselves. I had volunteered at camps for "retarded" (I *hate* that word) kids when I was in high school and college and felt comfortable with my image of kids with DS, so it was different for us. However, with Miranda's heart problems it would have been nice to know about the DS, because then they would have done an echocardiogram (ultrasound of her heart) and when we found out about the problems we might have scheduled a cesarean so as not to tax her. (I ended up with one anyway because she was late and ended up with really bad meconium problems. Too much for one kid!) It's all a personal decision. ----------------------------------------- Anonymous response 2: I can absolutely say I would never abort a baby but, as mentioned above, I do feel that I would like some advance notice if possible if there were to be any problems. As it turned out, our daughter was born 7 weeks early and it wasn't due to any cause that could have been pre-determined, yet I'm glad I had the tests for my own peace of mind. ----------------------------------------- Anonymous response 6: Boy, I don't know about this. I can't say unequivocally that I would never abort under any circumstances, but I have also never been put in the situation to have to make a decision like that. We were not having the test to see if we should abort or not - I feel like the more info we can have ahead of time, the better. ----------------------------------------- Anonymous response 7: a) Age was not something to abort for, and as it turns out, I was almost 5 weeks less pregnant than the doc wanted to believe, with an above average amount of amniotic fluid. I feel on this point the test was more than worth it so that our baby won't be induced early because the doctor thinks it is late. b & c) For these anomalities we probably would have aborted, but as each arm, leg, finger, toe, etc was counted we almost cried with joy. No anomalites whatsoever. The US was well worth it to us for peace of mind, instead of months agonizing over if there were anything wrong. Being able to see the baby moving around and such was a bonus for us. ----------------------------------------- From Dena Rollo: I *would* abort , so I'm not really qualified to answer this, but I do think there are benefits regardless - knowing that you're expecting a child with a specific defect/disability/problem can help prepare the family emotionally, and gives you time to make any necessary practical arrangements (will a parent have to stay home? will you need special equipment? help? institutional care?) or explore treatment options (early intervention can make a huge difference in outcome, and there's enough to deal with with a newborn without having to research this too!) as well as make special birthing arrangements, if necessary (you may need more medical intervention for the baby than is available at the facility you've chosen) ----------------------------------------- Anonymous response 8: To me, the biggest benefit is that your birth choices might be affected. For example, in the case of spinal bifida, you would probably be safer to have a scheduled c-section. At the very least you could have the neo-natologist standing by. ----------------------------------------- Anonymous response 9: There are probably no benefits for those having the test who would not abort unless the method of delivery will make a difference on the outcome of the severity (eg:Spina Bifida). ----------------------------------------- Q5. If you got bad news on a prenatal test, how did you respond? How did you go about deciding what to do about these results? ----------------------------------------- Anonymous response 1: We terminated a pregnancy in May 1994, due to information obtained from an amino. Our reasons for doing the amino we strickly age related, I was 37 at the time, had 1 miscarriage in 1989 and 1 healthy child in 1991. We had no family history of genetic disorders and believed that we were just doing the amino to determine the risks of caring a Downs baby. The results of our amino came back in record time, one week. The genetic counselor called to let me know that they had found something, a marker, but were unable to determine how active it was at the time. Therefore they wanted to do testing on both my husband and I to determine more about the marker. We were told at that time that markers are not uncommon and do not necessarily mean bad news. We were there for the blood tests within the hour. The counsler promised they would do the tests over the weekend and let us know as soon as possible. This was a Friday afternoon, Monday afternoon I couldn't wait any longer and called the counsler, she knew and it was not good. The baby I was carrying had Trisomy7P, a seldom seen extra chromosome. I carry a translocation of the 7th and 15th chromosome, because the pieces that broke loose and reattached were of the exact same size I have experienced no abverse effects. So what did this mean for our unborn child, no one seemed to know exactly. We were referred to the prenatal genetics clinic. No one we talked to had any experience with this. After extensive research, it was discovered that there were only 3 report cases. The expected IQ for this child was some where below 20, with a life expectance of less than one year that would require extensive surgery to make that. We could expect severe heart defects, under development of lungs and liver, respiratory difficulties and more. The odds were this child would never leave the hospital. How did we make this decision, with alot help from God. We talked, we cried, we held our daughter tight and we prayed. My husband and I came to our decision independantly and for very different reasons, but we came to the same conclusion, we could not allow our baby to suffer needlessly. Exactly one week after learning the final results of our amino, I under went a D&E. I have never doubted our decision, but even now I must fight back the tears, I will never forget our daughter. ----------------------------------------- From Trish Jalbert (tjalbert@best.com): When we got the AFP results we went to the followup where they would have done the amnio if we wanted. Instead, after talking with the staff, we ended up in a coffee shop having what I think of as one of life's really big talks. We decided that people with disabilities are still people and we had wanted this baby. We figured it was still only a 3% risk. I think the statistics they give you are misleading. We should have looked instead at how much the risk had increased. When she was born and we found out about the DS it was a big shock and we cried a lot. But more pressing at the time was how sick she was from meconium- we almost lost her, so the DS seemed trivial, if you can believe it. Sometimes I'm still jealous of people with regular kids. But I love her, and I wouldn't give her away for anything, not even a regular kid. Guess we'll just have to make one of those next time. ----------------------------------------- Anonymous response 2: Depending on what the news was, I suppose I could have many different reactions. If I found out my child were going to have some specific life-long condition I would be very sad but would, in time, try to find out as much ahead of time as I could about what to do to best help the child. ----------------------------------------- Anonymous response 6: Well, "borderline" high on the AFP wasn't *devastating* news, and my doctor's approach was to do a very in-depth ultrasound first, and take a good look at the spine (and everything really), and go from there. Everything from the ultrasound looked perfect. Then he said it was up to us if we wanted to have an amnio. We immediately declined. We thought we had seen enough info from the ultrasound. AFTER we declined, the doctor said he agreed. He didn't try to sway us either way. This doctor also said that sometimes high AFP can indicate future growth problems in the fetus, so they would do two more ultrasounds at something like 26 and 28 weeks to make sure the baby was growing properly. These ultrasounds showed fine growth. I think all of this put our guard up somewhat. ----------------------------------------- From Dena Rollo: Isabel (my three year old (today!!) has a chromosomal translocation - we were referred for genetic counseling, more tests, etc. It was a devastating experience - words simply cannot convey how incredibly awful it was. At the end of all the tests, we were left with a 7% chance that the baby would be born with severe clinical problems. Although we had both thought we'd choose to abort, we weren't expecting such a "gray area" result - we'd thought that either the baby would be healthy, or definitely not. Faced with fairly "good" odds (that didn't seem good *at all* when it's your baby!) and the horror (to me) of a 2nd trimester abortion) and the information (at the height of our despair, I *needed* to know the baby's gender for some reason, and Michael said okay) that this was our much-longed-for girl, we decided to go ahead with the pregnancy. The last four months were grim, but Isabel was born healthy and beautiful, exactly three years ago today. Oddly enough, both Michael and I agree that , were we faced with the same decision today, we'd choose to abort, as we simply love Isabel too much to have taken that risk for her - but that's hindsight - and we're so glad we got so lucky!!!! ----------------------------------------- Anonymous response 8: I had the worse possible news during the ultrasound I had before the amnio. The amnio confirmed the radiologist's suspicion of a chromosomal abnormality: monosomy 13 -- the lack of one of the 13th pair of chromosomes. My son had multiple major abnormalities, the combination of which were fatal. They included hydrocephaly, spinal bifida, a hole in his heart, fluid in his chest cavity, one kidney. I was 4 months pregnant. My response was to 1) wait for confirmation by the amnio results, 2) research the hell out the the various "syndromes" the genetics counselor thought it might be and 3) get support (counseling). The 2 week wait for the amnio results was horrible, but it did give me a lot of time to gather information to make an informed decision. By the time I got the diagnosis, I knew I would terminate rather than let him be born only to die. I remember that there was some talk that this pregnancy could be dangerous to me, but I don't remember what the reasoning was for this. I was given two options: D and E or prostaglandin induction. I decided on the induction because I could not stand the thought of him suffering or being dismembered. The induction took 24 hours. The prostaglandins made me very ill (nausea mainly). He was born dead. I got to see him and say goodbye, and for that I am very grateful. This was easily the most painful thing I have ever experienced. ----------------------------------------- Anonymous response 9: If you got bad news on a prenatal test, how did you respond? My Specialist was unusually extra nice at my next appointment. He explained to me that my ultrasound pictures were great, test for spina bifida ok, but ... I scored a negative with the Downs Syndrome test - I scored 1/130 and I am only 29. Even though I was sure my dates would have been out a week he stated that the ultrasound confirmed that I was probably half a week behind his calculations and that it would make no difference to the outcome of the results. The Specialist had already booked me in for the amnio before I had fronted up t to find out the news. I went into a mad panic, could not eat for a few days as I was worrying about whether it was worththe risk of miscarrying from having an amnio, especially if there was nothing wrong with the child. I lost about 5 pounds that week, and alot of sleep. The day of the amnio arrived and got quite worked up. Even though I could not feel a thing, the psychological impact of it all caused me to faint (I was lying down too). I was then told that the results would take 3 weeks, and if I hadn't heard anything, it meant good news. How did you go about deciding what to do about these results? I agonised over this for a while whilst waiting for the results. The amnio was done 2 weeks before the Christmas break and my Specialist was retiring. I began to worry that by the time of my next appointment I would be about 24 weeks along in my pregnancy and that it would be too late to terminate. I actually had nightmares of having to give birth to it, and then hearing it try and gasp for breath once delivered. I tried to contact the Specialist, but no answer - closed for the Christmas holidays. Again, more weight was lost. Eventually, I managed to get through, he assured me that no news was good news and that he would not let me get too advanced before a termination, and described the procedure. Anyway, a week later and still not hearing any news was very unsettling (like to have it confirmed). I rang again and found out that all was OK. That was the best news ever. ----------------------------------------- Please add this to the FAQ file on Prenatal Testing - Overview and Personal Stories. You can include our first names, but please do not include our e-mail address. Thanks for your efforts with this issue. Your page was very helpful to us. We decided to go in for an amnio at 16 weeks because Mary would be almost 35 years old at delivery. However, after hearing statistics from our amnio specialist that differed somewhat from our OB concerning the risks and benefits of the procedure, and after seeing the fetus on ultrasound, we decided not to risk the amnio. At 17 weeks we had the AFP/Triple Screen and it showed and increased risk of Down Syndrome (1 in 138). We scheduled the amnio/US again. The procedure went well and there was "nothing obvious" on the US. Mary was anxious but Tony was quite sure it would turn out alright. After 12 days and much worry, we were devistated and shocked to find out our baby had DS. We immediately researched DS at the library and on the internet and met with a genetic/pediatric specialist. After much anguish and many tears we made the decision to end our pregnancy. It took all the courage we could muster to go through with it. Now, a day after saying good-bye to our little girl, we are beginning our recovery both physically and emotionally with the support of our friends and family. It was the most difficult decision of our lives, but we do not regret our choice or our pregnancy. This was our first pregnancy and to our amazement, we want to try again. Tony and Mary ----------------------------------------- Q6. Any people who have had children (siblings, etc.) with some of the defects screened for who would like to share their experiences? ----------------------------------------- From Trish Jalbert (tjalbert@best.com): I cannot stress enough how I feel about eugenics. Some people find it ironic- I am *very* pro-choice, but I am against aborting babies if they have non-fatal birth defects. (Something like Tay Sachs is different- what a horrid situation for baby and parents, and there's no hope at all.) I look at it this way: if you wanted a child, it is not responsible to abort just because there's a problem. Parents are supposed to love unconditionally, and aborting your baby because you don't like some aspect of them is certainly not unconditional. That said, I know some people couldn't handle life with a child with a disability. I struggle with how I feel about those folks. What I want to say is: then maybe you shouldn't be parents at all, since parenting isn't supposed to be easy. But I also want to be compassionate. There is always the option of adoption- there is a waiting list for DS babies! But I wouldn't want to be forced to have a baby I didn't want, and that's why I'm pro-choice in the first place. It's a hard call for me. I have only met one person since Miranda was born who told me point-blank that she would have aborted. I didn't particularly care for her before she told me this- she wasn't very nice to Miranda, so I suppose I had guessed already. No one has yet to tell me *I* should have aborted, thank goodness. I think that it's critical that before a decision to abort is made that the parents-to-be actually spend some time with parents and a child with the particular disability. The unknown causes a lot of fear, and I think people might find that there is less to worry about than they would have supposed. I wouldn't mind at all showing Miranda off. And I guess I already have a bit of a personal crusade to educate everyone else about what wonderful people people with Down Syndrome really are. Don't rely just on the genetics counselor or what you have heard before- this is YOUR CHILD. Spend some time, difficult though it may be, to make the decision. My attitude is that we are all different anyway, and that we would do well to accept each other a little better. This is this first step to accepting that you can't totally program your child, too. He or she is going to be who he or she is- not who you necessarily dream about them becoming. Sure I wish that Miranda had only 46 chromosomes. But she doesn't, and just because one of us gave her a little extra doesn't mean that we love her a little less. I am already in these 3 short months a much better person than I was before. ----------------------------------------- Anonymous response 2: My friend's nephew was born with the condition Trisomy 13 which they detected a few months before his birth. This condition is almost 100 per cent fatal and my friends brother and sister-in-law were, of course, extremely saddened by the news. Yet they were glad to have the fore-warning and when the time came for him to be born they were as prepared as they could be for his death. Sadly, he lived only an hour. They are still recovering from his death but I do not sense in any way that they regret knowing ahead of time that he would be born with this condition. It seemed to help them prepare for their altered reality. ----------------------------------------- Anonymous response 6: My son was born premature (at 32 weeks) and was diagnosed with a profound hearing loss before he left the NICU, but of course, none of this is actually screened for. I *do* think, to this day, that that AFP result was *some* indicator of problems to come. I'll never know that for sure, since the ultrasounds seemed to suggest a false positive, and he did not have spina bifida or anything like that. But, in my heart, I believe there is some connection. ----------------------------------------- From Dena Rollo: My mother's first child was born with multiple birth defects, and died when she was two, before my older sister or I was born. An abortion would have been much easier for my mother to deal with than was Kathy's birth and subsequent death, but prenatal testing was unavailable 45 years ago. I have worked extensively with retarded children and adolescents (many of them with Down's) and don't for a minute doubt that living with and loving children like these can be a wonderful experience for the child and for the rest of the family. But it should be the family's decision, in my opinion. ----------------------------------------- Q7. Any people who *have* one of the disabilities in question who would like to share their experiences? ----------------------------------------- Anonymous response 5: I don't have any experiences with testing but I have spina bifida. As a person with a disability, I want to point out (without getting into this long and unpleasant debate) that purely from a social science perspective, I think you are biasing your survey by using the term "birth defect". This highly offensive term implies people with disabilities are defective and reveals a bias (whether intended or not as I imagine it may not be your position at all) in favour of aborting fetuses diagnosed as having a disability. A better term would simply be disability so people could decide for themselves. And no, I am not some anti-choice bigot and thoroughly 100% pro-choice on all issues except aborting fetuses with disabilities. ----------------------------------------- Q8. Any other personal experiences which would be helpful to people considering prenatal testing for disabilities? ----------------------------------------- Anonymous response 6: I don't know how we would have reacted to a similar (or worse) AFP test outcome in my second pregnancy. At the time, we had a son with cancer, and couldn't have taken much more. Like I said above, *I* feel that that borderline high AFP was the first indicator that Aaron was going to have problems. And he did - premature birth, hearing loss, leukemia at 11 months old, and he died at age 23 months. I'm sure no doctor would concur that those things were related, but I'll always think they were. We were also glad to have the doctor check the fetus' growth at 26-28 weeks. It would be scary if we got bad results again (especially after what we went through with Aaron), but we are simply the type of people who want to know everything we can as early as we can. It helps us prepare and cope. ----------------------------------------- Anonymous response 8: Remember that you can get bad news! Bring someone with you for the test. If you get bad news you may not be able to function too well after the test. For example, I couldn't remember the phone number to work, to let them know I wasn't coming back afterwards. ----------------------------------------- Anonymous response 9: Have since learned that lots of people go through very similar experiences with the results of these tests. Thanks to this FAQ, I found it good to hear that there were so many people in the same situation that had happy outcomes. Once talking to others (you never hear any dark sides of pregnancy, only the childbirthing experiences), I also found out that it was very common to get false negatives on the AFP and triple screen. This was reassuring, but I still believed that I was going to be that unlucky one of the 130. ----------------------------------------- Q9. How have people decided whether or not they wished to be told the sex? ----------------------------------------- Anonymous response 2: I would have liked to have known ahead of time but my husband did not. We agreed that we would not ask and, as it turned out, it could not be seen on the ultrasound anyway. One woman I know who had amniocentisis learned the gender of her baby because she wanted her grandmother, who was dying, to know whether she was going to have a boy or girl. That was somewhat of a unique situation I thought. ----------------------------------------- Anonymous response 4: In general, information is a good thing. If someone else knows my baby's sex, I'm certainly not afraid to know it too! (And for those people who think the surprise is the fun part -- fine! We won't tell you!) On the other hand, we are not going to take any special steps to be sure that we find out. If the sex shows up clearly on the ultrasound, I won't hide my eyes. If not, we can wait. I'm not so bound up in the question of sex that it's a really critical question for me. ----------------------------------------- Anonymous response 6: I'm not set in one way or the other. With Aaron, we knew. It was what we wanted. With Katelyn, we didn't (and not because we chose not to - there was just no occasion to find out; we had no problems, so had only one very early ultrasound, and no amnio). It was pretty neat when I was in labor to *still* not know. My husband kept saying he wanted to know before the baby was born. I think if the occasion came up to find out, we'd find out, otherwise, it would be okay too. The closer it got to the time for the baby to be born, the easier it was to *not* know. :-) ----------------------------------------- Anonymous response 7: We decided we wanted to know. I think the philosophy behind it was that, whether now or at birth, the gender would be the same, so why not? The little one, however, was not being cooperative. The tech thinks it is a boy, but she couldn't be certain because the baby kept curling up and hiding the info from her. ----------------------------------------- From Dena Rollo: see above. ----------------------------------------- Anonymous response 9: I wanted to know the sex from the beginning and knew what it was before all the amnio etc was carried out. Of course it was nice having the amnio confirm the sex.