how accurate is nipt for klinefelter syndrome

The educational health content on What To Expect is reviewed by our medical review board and team of experts to be up-to-date and in line with the latest evidence-based medical information and accepted health guidelines, including the medically reviewed What to Expect books by Heidi Murkoff. If your baby does have KS, I recommend checking out The Focus Group/Dr. But I know a guy who has KS... he didn’t know he had it until he was a full grown man and he and his wife were having fertility treatment. Hang in there :). thank you so much for letting me know I’m not alone in this! Thanks for reading, and wishing everyone healthy, happy pregnancies. My son was born at the end of August and I’m still waiting for the genetic results. You are not alone in this!!!! Our last NT ultrasound came back normal (@12+ weeks of pregnancy). We decided not to go with the invasive testing like CVS. Sending hugs your way! Ten were false positives, with 46, XX found on fetal or newborn karyotype. Genomics-based non-invasive prenatal testing methods appear to be sensitive and highly specific for detection of fetal trisomies 21, 18 and 13 in high-risk populations. I’m feeling much more positive and optimistic, though of course getting the diagnosis confirmed was a blow, and we’re still dealing with it in waves. hi Katie. It’s hard because KS seems to be such a spectrum, with no way of knowing where he’ll fall until long after he’s born. There are different methods in use for gNIPT. ❤️, I don't really have any advice per se, but our doctor informed us that there are high instances of false positives and there may not even be anything wrong. I’m surprising my husband because we are expecting to have a boy as our first child. In addition, in this review most studies enrolled pregnant women with increased chance of having babies with abnormal chromosome number, so our findings do not directly apply to general populations of pregnant women. Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. To evaluate and compare the diagnostic accuracy of MPSS and TMPS for gNIPT as a first-tier test in unselected populations of pregnant women undergoing aneuploidy screening or as a second-tier test in pregnant women considered to be high risk after first-tier screening for common fetal aneuploidies. Also look into programs if it is determined that the test is accurate. Your patient’s NIPT result suggests the presence of an extra copy of the X chromosome. What does this mean? The women must have had a screening test for fetal aneuploidy by MPSS or TMPS and a reference standard such as fetal karyotype or medical records from birth. Thanks for checking back in :) My son was born in early September and we got the results back about two weeks later—he does have Klinefelters. Hello!I am writing on this to comfort other mommas out there. However, there were some problems with how the studies were conducted which makes us cautious about our findings. gNIPT method appears to perform well in identifying unborn babies with abnormal number of chromosomes. Hope your appointment went well. We were able to see our little boy in a more detailed ultrasound, which came back normal—which doesn’t impact his chances of having KS, just that he doesn’t have other physical abnormalities. Do you know if you will? We still don’t have a definitive answer, and won’t until we do an amniocentesis, which I’m not sure we’re going to do, but we feel more at peace with it either way. Best of luck to you and wishing you a healthy, happy pregnancy as well! However, the genetic counselor said they and most other doctors disagree with the way Natera calculates this, so they have their own method. With these invasive tests, pregnant women are exposed to a higher chance of losing their baby even if the baby is unaffected by Down syndrome. We did the Natera test. My mother got a false positive for Down syndrome (and one other disorder that I can’t remember) when she was pregnant with me. I’ll let you know how that goes. NIPT results: Klinefelter syndrome. Sounds like you've done your research and that's the best you can do for now. Sixty-five studies of 86,139 pregnant women (3141 aneuploids and 82,998 euploids) were included. How accurate is the new test (genomics-based non-invasive prenatal testing (gNIPT)) for detecting abnormal chromosome number in an unborn baby's genetic material (DNA) found in the mother's blood? How accurate are the bloods for sex chromosomes disorders. When they were exploring causes for the infertility troubles, that’s when he discovered he had Klinefelter’s. The most common trisomy is Down syndrome which occurs in about one in 1000 babies. My patient’s NIPT is positive for XXY syndrome (Klinefelter syndrome). The gNIPT results were confirmed by a reference standard such as fetal karyotype or neonatal clinical examination. Hoping for the best but trying as best we can to prepare in case we get confirmation. Children with Downs have slow growth, characteristic facial features and mild to moderate intellectual disability, with some requiring specialist education later in life. How bad is 30%? Ahh, I’ll be thinking of you! This educational content is not medical or diagnostic advice. The corresponding clinical specificities (95% CI) were 99.9% (99.8% to 100%), 99.9% (99.8% to 100%), 99.8% (99.8% to 99.9%) and 99.6% (98.9% to 99.8%). We use cookies to improve your experience on our site.

Baked Eggplant And Zucchini Parmesan, Philips Air Purifier Ac1215 Filter Replacement, Blackberry Lemon Muffins, Social Effects Of The Industrial Revolution In Britain, Latin Verb Conjugation Practice, Genie Universal Remote Compatibility Chart,