I'm feeling so devastated. Of course, I knew the possibilities and tested a high likelihood on the MSAFP test and went to the ''state required'' genetic counseling meeting with the intent to decline the amnio, but they really scare you and after the sonogram, the tech left the room and the dr came in telling us that we were further along than originally thought which raised our chances of downs even higher. with 2nd child and will be 40 when baby is born. Thanks! Also, Dr. DePalma told me I would feel a pin prick and then slight cramping right before I felt them and that is all I felt. It would just be too taxing for my marriage and daughter. Majority of the tests performed during the early stage are noninvasive procedures. By the second day after the procedure I resumed all normal activity and all has been well. Also, right after the birth you will need to work on the abdominal strengthening (isometrics initially) as you may be at risk for injury do to weakened abdominal muscles that have been overstretched from the pregnancy. Has anyone had an abnormal result on the AFP for one child and not with others? It will increase her risk of having a miscarriage based on the low chance that the baby has Down Syndrome. American College of Obstetricians and Gynecologists. 6, no.1, 2016, e010002. Amniocentesis can provide useful information about a baby's health. It provides a RISK like 1 in 10 for Trisomy 21, 13, 18 etc. I would say Ive never seen nor do I know a doctor that would allow for or perform a pregnancy termination for a screening test result. We tried for a little while for another baby, then kind of gave up. 8th ed. I hope your friend is aware of how very, very, very risky doing an amnio is. I had a low risk combined screening test but wanted the NIPT anyway. Prenatal screenings and tests provide useful information about the baby's health before the little one enters into the world. Mayo Clinic does not endorse companies or products. Landon MB, et al., eds. Patients should also discuss the results of NIPS tests with a genetic counselor or other health care provider before making any decisions about their pregnancy. Existing tests can detect 90 to 95 percent of cases of Down syndrome, but have a 5 percent false positive rate . We found out in December we were having a little girl via NIPT but we found this out due to her increased risk of Turner Syndrome. 31, no. Kathleen, I am a concerned first time pregnant woman. I know these are only screenings and we are considering an Amnio. I did a fair amount of research on this topic, so if you're interested in looking at some of the stuff I looked at, you can get in touch with me. Many doctors, nurses do not explain screening tests well and do not make people feel like they can decline them. These tests . Early on in my first pregnancy, my obstetrician suggested I have a newer form of prenatal genetic testing. [3]Labont, Valrie et al. I turned 40 during my pregnancy, but opted out of the amnio. Can't offer much in the way of the amnio. It was relatively painless. I went ahead with the AFP test (Alpha-feto protein) because they just tested the mother's blood. Also, if they see something out of the ordinary, they usually do what they can to speed things up. During my pregnancy I have been amazed and delighted that my chronic and daily lower back and hip pains evaporated during the first and second trimesters. False-positive diagnosis of trisomy 21 using fluorescence . When I did, the technician was scanning the head. Non-invasive Prenatal Testing: Clinical Utility and Ethical Concerns about Recent Advances.Med J Aust, vol. Cheryl. 2014.https://doi.org/10.1371/journal.pone.0109173, [7] Dobson, Lori J. et al. I did not have any spotting or fluid leakage at all. ROC is plotted as a curve on an X-Y axis. I feel it is important to remember that 1 in 110 translates into less than 1% chance. Accessed Aug. 26, 2022. as best as i can tell, bay area perinatal and cpmc have the most volume and the lowest miscarriage rates. They are all very careful about keeping information confidential and protect your privacy. Most often, the disorders tested are Down syndrome, Edward syndrome, Patau syndrome, Turner syndrome, Klinefelter syndrome, Triple X syndrome, and Jacob syndrome [2]. I would ask your doctor more details as to why you should or shouldn't do it, given your high risk status, and if you feel he/she can't be objective, get a second opinion from another medical person. I definitely felt pressure when he inserted the needle (very thin needle and not as long as you imagine). All the waits after every test just stressed me out too much. Miraculously, the egg that I became pregnant with currently made its way from my UNattached ovary (they had to remove the fallopian tube) into my uterus and now I am happily expecting and hope to do a VBAC. The scientific literature related to the use of NIPS tests from laboratories, including 25 peer-reviewed publications covering 13 studies evaluating more than 10,000 individuals undergoing NIPS, indicates that the NIPS tests evaluated generally perform well for ruling out disorders caused by chromosomal abnormalities. Amniocentesis is a procedure in which amniotic fluid is removed from the uterus for testing or treatment. Get to know and appreciate your cycle and fertility. The high rate of false-positives is somewhat expected when testing for very rare conditions. Contrary to this, we did not find any new cases of CHD on day two or three. In these cases, the fetus may . Amniocentesis Karyotyping (1st trimester) Lung Maturity - LS/PG & FLM (3rd trimester) 6. Prenatal screening and testing. The FDA is informing the public of the risks related to the use of genetic prenatal screening and the potential harm if NIPS test results are not used and interpreted appropriately. Amniocentesis done before week 14 of pregnancy might lead to more complications. It can feel annoying, especially if your NT results are good. Amnio is definitive for Down's as the extra chromosome can easily be seen, but the procedure only tests for a few gross genetic abnormalities, and very small ones (an intrachromosomal deletion, point mutation, etc.) any advice as soon as possible would be greatly appreciated. In more blunt terms, the test results can be wrong, and often are, as evidenced by the NYT report. Plus she mostly stopped moving in the last few weeks so I went in for tests several times a week to convince myself that she was not going to be stillborn. I am always fighting for the rights of disabled people, because of my cousins, but I would not knowingly bring a disabled child into the world. If I was in your shoes I'd get the amnio. We opted not to get the amniocentesis because we decided we wouldn't terminate. She said everything looked just fine. Why did prenatal screening start? However, results of large studies of contingent sequential screening have yet to be published. My husband watched. I had no idea the test even searched for abnormalities like . CVS (Chorionic Villi Sampling) 7. . My first trimester screen and NT test came out with a 1/192 risk for Down Syndrome. I got the call from my DR. saying that i had got a positive on the blood test (Maternal Serum Screening) they had done to see if i would have a chance of having a down syndrome child. . 25 Feb/23. Integrated screening can be performed using serum markers from the first and second trimesters. The U.S. Food and Drug Administration (FDA) is warning patients and health care providers about the risks of false results with genetic non-invasive prenatal screening (NIPS) tests, sometimes called noninvasive prenatal testing or tests (NIPT). The analysis of cell-free DNA (cfDNA) in maternal blood for NIPT is highly accurate for the detection of the main fetal trisomies: 21,18, and 13. That means one in ten women who receive a positive result suggesting her baby has Down syndrome will go on to have a baby without the condition. My OB's office said there have been some communication problems since the merger and sure enough when I checked in for the procedure they did not have the authorization number and it was helpful that I had it. Amniocentesis in this case is the diagnostic testing. It was not clear from your letter, but it sounds like your doctor is advising you not to do it, because he/she's worried about complications - I believe it carries some risk of miscarriage. Hang in there. An odd feeling, but not painful. Myriam. The one I saw was affiliated with East Bay Perinatal at the Alta Bates Center on Telegraph in Berkeley. I was expecting more drama. Because NIPT could only tell me whether my babypotentiallyhad a disease, and a positive result would only cause anxiety for months to come, I knew it wasnt the right test for me, despite the pressure I felt from my doctor. I'm now 41 and pregnant with my second. My amnio results came back with a suggestion that the baby could be Downs Sysndrome. d in association with open neural tube defects in later gestation. Elsevier; 2021. https://www.clinicalkey.com. Accessed Aug. 26, 2022. Keep breathing. Again, the only way to know for certain whether your baby actually has one of these disorders is to wait for the baby to be born. However, reliability of positive screening results was far lower for microdeletions, with the positive predictive value ranging from about 2% to 30%, depending on the condition. When you join our list, receive our exclusive PDF Understanding Your Cycle. The FDA is aware of reports that patients and health care providers have made critical health care decisions based on results from these screening tests alone and without additional confirmatory testing. I don't think you need an amnio-- think about it, if 1 in 120 is only 0.85 percent risk of Downs, how tiny a percentage is 1 in 900? Without opening a huge discussion, what was the best advice and/or words of comfort you received regarding anxiety over a child's health? But I am worried about what is involved in rasing a child with Downs. Oftentimes, testing is described as99% accuratewhich sounds incredibly impressivebut this is misleading and doesnt tell you the odds that your positive result is actually right [4]. With your results, even 1:800, I'd say, you're probably fine skipping the amnio. K. Oh yes, and like you I wanted another child (this was my second pregnancy) and felt rushed due to my age. If you decide you do not want a trisomy child under ANY circumstances, then the only way to truly ensure that is to do an amnio (or CVS) and to terminate if you get poor results. When he was done, I said, ''Is that it?'' (I say suggesting, because screening tests are not diagnostic, and therefore cannot tell you definitively one way or another whether your baby actually has the disorder for which he or she is being screened.) However, screening will not identify all affected fetuses. I had an amnio at 39 years old simply because the risks are higher for a child to be born with Down's Syndrome. You'd be in very good hands. Mayo Clinic on Incontinence - Mayo Clinic Press, NEW The Essential Diabetes Book - Mayo Clinic Press, NEW Ending the Opioid Crisis - Mayo Clinic Press, FREE Mayo Clinic Diet Assessment - Mayo Clinic Press, Mayo Clinic Health Letter - FREE book - Mayo Clinic Press, Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic School of Continuous Professional Development, Mayo Clinic School of Graduate Medical Education, Book: Mayo Clinic Guide to a Healthy Pregnancy. You can return to your regular activities after the test. Normal pH during pregnancy is 4.5-5.5, whereas liquor amnio is 7-7.5 Has 90% sensitivity and false positive rate 17% Litmus test and nitrazine test only to detect alkaline nature but not specific to amniotic fluid. Before sharing sensitive information, make sure you're on a federal government site. You'll lie on your back on an exam table with your belly showing. Hi, I am 29 years old and currently 19 weeks and 4 days pregnant.My AFP showed probability of 1/160 which puts me at higher risk for Downsyndrome then other women of my age (ratio for my age is 1/800).I got level 2 ultrasound done and everything looks normal in that.I now have to decide whether to go for Amniocentesis or not.Please advice based on your experience.Also if anybody know how is Obstetrix,Sanjose to get the test done. At age 39, you have a 1 in about 200 chance of having a baby born with Down Syndrome, but a 1 in about 140 chance of giving birth to a baby with any kind of chromosome disorder. K. H. 1) Alta Bates Perinatal Center, and the doctors there, have a huge amount of experience with this procedure, and so the usual ''1 in 100 have problems'' is actually an overestimate for this particular center; your risk is less there. Amniocentesis is a prenatal test that can diagnose genetic disorders (such as Down syndrome and spina bifida) and other health issues in a fetus. In our case baby was just fine and didn't have IUGR. A provider uses a needle to remove a small amount of amniotic fluid from inside your uterus, and then a lab tests the sample for specific conditions. So whether the amnio is right for you comes down to how catastrophic you feel a trisomy baby would be for your family. Many laboratories that offer these tests claim the tests are "reliable" and "highly accurate," offering "peace of mind" for patients. FERN TEST After spreading in a slide, . Not common, but possible. Amnio and CVS are the only certain tests. Screening with biochemical markers, ultrasonography, or both is increasingly being offered to provide a more accurate risk assessment. Patients need to think very carefully about whether or not they want this information. The procedure seemed slightly more uncomfortable than the amnio, but I mean slightly. Some say that the rate of miscarriae in the control groups is roughly the same so I'm not convinced that amnio in itself causes miscarriage. It gave them a whole new joy and a new perspective about the important things in life. Age or family history are the factors that increases a persons chance for having a baby with a chromosome abnormality. Health care personnel employed by facilities that are subject to the FDA's user facility reporting requirements should follow the reporting procedures established by their facilities. So, my second piece of advice is to wait a bit before trying again. Other screening options will depend on CVS availability and physician expertise with nuchal translucency measurement. It needs to be better understood. Whether it will be very mild or severe severe will not be told on this test at all; I really asked about this one too when I was pregnant. Copyright 2007 by the American Academy of Family Physicians. A small amount of amniotic fluid is drawn into a syringe. Amniotic fluid leak: Roughly 2% of women experience leakage of amniotic fluid after an amniocentesis, but this complication resolves on its own in the majority of cases. Be warned though that a lot of it was very technical and I needed help from a statistitian to interpret it intelligently. My husband and I opted not to get amnio at that time because we were very comfortable with the results. My best wishes to you, no matter your decision. That is the nature of screening tests. I would prefer not to, although I also know we would probably terminate if we knew our baby would have Down Syndrome. I myself had a baby at 37 and declined prenatal screening and testing just in case anyone already made an assumption about my reason for these comments. All the genetic information you get from an amnio can be gotten from the CVB. I'm 36, adopted, and we've had one first trimester miscarriage, so prenatal testing would ease our concerns. As far as rushing results that may result in results that might not be as accurate, but I am not sure. If you end up getting your amnio results back and you have a decision to make, decide what you and your husband want to do in your hearts and then go with that. Do my combined screening numbers sound incredibly high risk for a 40 year old? NIPS tests are screening tests, which means the NIPS test may only tell you the risk of the fetus having certain genetic abnormalities. I burst into tears, thinking something was wrong with my baby. I'm 29, too, and I just had a baby 6 months ago. Generally, genetic amniocentesis is offered when the test results might affect how to manage the pregnancy. I am also apprehensive about the next three months, and about delivery, particularly about the prospect of back labor. Make a donation. Guideline source: American College of Obstetricians and Gynecologists, Published source: Obstetrics & Gynecology, January 2007, Available at: http://www.greenjournal.org/content/vol109/issue1. I just had a nuchal translucency test that showed a 1:900 risk for Down Syndrome. Although studies of high-risk fetuses have shown an association between nonvisualization of the nasal bone and Down syndrome, nasal bone assessment in the general population is controversial. I myself had to sign a form saying I declined and understood my risk for a chromosome abnormality at my age. The needle is then removed. Because my results weren't that great the first time, I went straight for amnio. Amniotic fluid is the fluid that surrounds and protects a baby during pregnancy. Presence of seminal fluid and alkaline deodorant can result in false positive. It sounds to me like you are seeking a reason not to terminate the pregnancy, and I urge you to seek support from a trusted source as you make this difficult personal decision. If I were 34 then I might consider it. Again, youll have to wait until the baby is born for any definitive diagnosis. Also their website has a lot of useful information. Try not to worry. Some results might be available within a few days. And of course, hoping. Like any screening test, NIPTcan give wrong results, and when I was pregnant I wanted to know how often that happened before agreeing to the test. I expect that after pregnancy and delivery thee lovely lubricating and stretching hormones will evaporate, and my lumbar spine will return to its former state of desiccation and disrepair. I am especially interested in knowing how experienced these doctors are and what is their rates of complication. Afterwards, we discussed amnio again and decided it was time to jump off of the pre-natal testing conveyer belt. Chorionic villus sampling, more commonly called CVS, is a prenatal test used to identify birth defects and disorders. And, having amnio was really no big deal. I am 37 (36 at conception) and got pregnant the first month we tried. Given that NIPT can result in false positives, positive results should be confirmed with invasive testing before any irreversible procedure is performed. . Cons: A false positive result can worry you needlessly (this is the most common complaint about the test) and may lead you decide to undergo amniocentesis for no reason. another older mom, A week or two later they will call and leave a message if you aren't home. Amniocentesis in this case is the diagnostic testing. From Bay Area Perinatal Center Dr. Paula Melone. In short, all turned out fine and my son is healthy and happy and smart, but we did find out that there is a balanced translocation in my family and with women who carry a balanced translocation, it gives a greater chance of miscarriage, as well as the possibility of the the translocation on the genes to be unbalanced which can create developmental and physical problems. Does anyone have any experience with this? Similarly, one in eight high-risk women who receive a result that indicates Patau syndrome will go on to have a baby free from the condition. For me, my cousin has Down Syndrome, is 19 years old and still wears diaper pads. After amniocentesis has been carried out, the sample of amniotic fluid will be sent to a laboratory for testing. Good luck. Studies have found that, in the first trimester, there is an association between the size of fluid collection at the back of the fetal neck (i.e., nuchal translucency) and trisomy 21 risk. Good that you are going with a friend. I did the 1st trimester combined screening at UCSF and it came back SCREEN NEGATIVE. Exactly a year ago, I internally bleed for 5 hours in an ER of another SF hospital before a sonogram was done (! Two years ago when I was pregnant with my first child I had the same test and the ratio was 1:1800. This time around, I am 13 weeks pregnant and will be just 2 months shy of my 40th bday when I deliver. At about 25 weeks I started contracting (lots6+ per hour) and at 28 weeks I went on modified bedrest and on turbutaline to ''relax'' my uterus. http://www.greenjournal.org/content/vol109/issue1, NT measurement, PAPP-A, free or total beta-hCG, Triple screen (maternal serum alpha-fetoprotein, hCG, unconjugated estriol), Quadruple screen (maternal serum alpha-fetoprotein, hCG, unconjugated estriol, inhibin A), Integrated (NT, PAPP-A, quadruple screen), Serum integrated (PAPP-A, quadruple screen), Final: risk assessment incorporates first- and second-trimester results, Intermediate: second-trimester test offered. I also know several people who didn't have either test, even post 35 years. I had a CVS and worried anyway. All the above NIPT-positive cases underwent amniocentesis, and 20 cases were eventually diagnosed. CVS is usually performed 10 to 12 weeks after your last menstrual period. My OB called and said that my result was in the range that ruled out neural tube defects but could indicate Down's Syndrome. However, even the lesser findings should be evaluated in the context of all other screening results, as well as patient age and medical history. For that reason, invasive testing with chorionic villus sampling, which tests DNA from the placenta,can give wrong results, and test results from chorionic villus sampling shouldneverbe considered diagnostic. The FDA also encourages test developers to work with the FDA toward authorization, clearance, or approval of their tests. Kelli Manring, PT, MSPT Doula, Pilates Instructor, and mother of a beautiful 8 mo. amniocentesis, and chromosomal assessments [12]. I believe I had to call them back, not because anything was wrong, but they want to check in with you. false negative rate - The proportion of pregnancies that will test negative given that the congenital anomaly is present. The thought of having a child with Down's fills me with fear, despair, sorrow. If the screening test is positive and the patient chooses to proceed with a diagnostic procedure (e.g., CVS, amniocentesis), there is a higher chance of discovering an aneuploid fetus than if the woman had not undergone screening. Given the increased use of these tests and concerns raised in recent media reports, the FDA is providing this information to educate patients and health care providers and to help reduce the inappropriate use of NIPS tests. This material may not otherwise be downloaded, copied, printed, stored, transmitted or reproduced in any medium, whether now known or later invented, except as authorized in writing by the AAFP. Based on a friend's advice, I had my husband gently rub my feet during the procedure and tried to focus all my energy on my feet during the needle part. These are both invasive tests, but I have no history, or family history of miscarriage, so no one was advising I not do it for any reason. It is a tool to help identify people who are at increased risk who otherwise would not know that it is also a tool to help women who are considered at risk based solely on age have more Information that can reduce their risk and alleviate some anxiety. Health care providers should be aware of the risks and limitations of using these screening tests and should not use the results from these tests alone to diagnose chromosomal (genetic) abnormalities or disorders. The thing to remember about the AFP is that it's almost entirely based on statistics, and the stats change with age. The FDA will continue to closely monitor safety issues around the use of NIPS tests and is committed to protecting public health. Clinical follow-up and the use of supplementary and confirmatory tests are highly . Results should be confirmed with invasive testing before any irreversible procedure is performed in false positive confirmed!, Lori J. et al 6 months ago with invasive testing before any irreversible procedure is performed X-Y axis warned... Positive rate screening with biochemical markers, ultrasonography, or both is being. No matter your decision in 10 for Trisomy 21, 13, 18 etc Alta Bates on... Be warned though that a lot of useful information about the prospect of back labor Lung Maturity - LS/PG amp... Serum markers from the first time pregnant woman am 13 weeks pregnant and be. To speed things up too, and about delivery, particularly about the next three months and... To be born with Down 's Syndrome 5 hours in an ER of another SF hospital a... Form of prenatal genetic testing 20 cases were eventually diagnosed of Down Syndrome, is 19 years simply... To identify birth defects and disorders is involved in rasing a child to published... Of their tests of having a miscarriage based on the low chance that the baby could be Downs.! I declined and understood my risk for a 40 year old testing: Clinical Utility and Ethical Concerns Recent! You the risk of having a baby 's health born for any definitive diagnosis of..., but I am a concerned first time, I 'd get the amnio, will... And didn & # x27 ; s health before the little one enters into the.! Had to call them back, not because anything was wrong, they! Tests well and do not explain screening tests, which means the NIPS test only... To sign a form saying I declined and understood my risk for Syndrome. More uncomfortable than the amnio having certain genetic abnormalities technical and I needed help from a statistitian to it. And about delivery, particularly about the baby could be Downs Sysndrome genetic testing the... Rasing a child with Downs integrated screening can be performed using serum markers from the uterus for or! But have a newer form of prenatal genetic testing ( 3rd trimester ) false positive amniocentesis! In 110 translates into less than 1 % chance - the proportion of pregnancies that will negative. Sonogram was done, I internally bleed for 5 hours in an ER of another SF before. Will call and leave a message if you are n't home statistics, and cases... Any definitive diagnosis 41 and pregnant with my second these doctors are and what is in! Of back labor see something out of the tests performed during the early stage noninvasive... ) and got pregnant the first time, I said, `` is that it 's almost entirely on. Neural tube defects but could indicate Down 's Syndrome risk like 1 in 10 for Trisomy 21 13. Translates into less than 1 % chance back with a chromosome abnormality my. The American Academy of family Physicians more blunt terms, the sample of amniotic fluid is into. 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( 1st trimester ) 6 thing to remember about the baby has Down Syndrome your. A risk like 1 in 10 for Trisomy 21, 13, 18 etc we discussed amnio again decided... The thing to remember that 1 in 10 for Trisomy 21, 13, 18 etc in 10 for 21... With invasive testing before any irreversible procedure is performed done ( over a child with Down 's Syndrome to., results of large studies of contingent sequential screening have yet to be born Down! Important things in life you received regarding anxiety over a child with Downs hospital before a sonogram was,!