Any Klinefelter’s parents here who can put my mind and heart at ease about what may come (or be straight about the challenges)? Do you know whether you’ll do an amnio? We are going to try to get in with the genetic counselor tomorrow just to see what the accuracy is. 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 is paucity of data on the accuracy of gNIPT as a first-tier aneuploidy screening test in a population of unselected pregnant women. It is important that pregnant women are given full information on the possible health problems that might arise for babies affected by an additional chromosome. My son was born at the end of August and I’m still waiting for the genetic results. The actual chance for the pregnancy to have XXY syndrome depends on many factors, including the patient’s clinical and family history. 1 in 6,000 random bad luck apparently, it is caused by an extra X in a random sperm or egg. Only one was a true positive. Sending love—I know the wait is brutal. DOI: 10.1002/14651858.CD011767.pub2, Copyright © 2020 The Cochrane Collaboration. What does this mean? We searched 13 databases (including MEDLINE, Embase and Web of Science) from 1 January 2007 to 12 July 2016 without any language, search filter or publication type restrictions. Hi everyone, We got the results back from our Qnatal exam (NIPT), and it came back positive for an extra X chromosome, which is called Klinefelter syndrome. In pooled analyses (1048 T21 cases, 332 T18 cases, 128 T13 cases and 15,797 unaffected pregnancies), the clinical sensitivity (95% confidence interval (CI)) of MPSS was 99.7% (98.0% to 100%), 97.8% (92.5% to 99.4%), 95.8% (86.1% to 98.9%) and 91.7% (78.3% to 97.1%) for T21, T18, T13 and 45,X, respectively. We keep going back and forth on whether to do an amnio or not. I keep wondering whether it’s possible to get so lucky twice . 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. The other trisomy or SCA conditions have varying degrees of disability but the chance of a baby being affected is much less. 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. How accurate are the bloods for sex chromosomes disorders. But she did get a false positive. How bad is 30%? However, when a gNIPT detects an abnormal chromosome number, then a confirmation using invasive tests (like amniocentesis or CVS) is still needed before pregnancy-related decisions can be made. Or advise on how to feel? Best of luck to you and wishing you a healthy, happy pregnancy as well! It was my first pregnancy. We searched for studies (up to July 2016) that assessed the accuracy of the new test. Studies could include pregnant women of any age, ethnicity and gestational age with singleton or multifetal pregnancy. We had genetic counseling and elected to terminate. The risk they are telling us is 30%. Due to limited data, comparative meta-analysis of MPSS and TMPS was not possible for T13. The views expressed in community are solely the opinions of participants, and do not reflect those of What to Expect. NIPT provides accuracy % for other syndromes like Down , but not DiGoerge Syndrome and other microdeletion syndromes. However, as you said, this is not life-threatening and does not mean you won't be able to carry your baby to term as with many of the other results from these tests. Sounds like you've done your research and that's the best you can do for now. 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. In the population of unselected pregnant women, MPSS was evaluated by only one study; the study assessed T21, T18 and T13. However, the symptoms vary from mild to severe so that some infants lead relatively normal lives. We have our appointment with the high risk OB tomorrow, so hoping to learn more in the coming weeks. No advice to give, but wanted to let you know I am in the same situation. I have opted not to do the amnio due to risk of miscarriage since I feel this is not something that would lead me to terminate a pregnancy. I have no personal experience to help you with this. we just got a call from our doctor this morning with the same results. this is really heartening, thank you. I felt better after reading that in the largest study, a group of 35,000 pregnant women nationwide, the risk of miscarriage showed to be much lower than previously thought, about 1:1600. Hello!I am writing on this to comfort other mommas out there. No. Quite a range, so I take it all with a grain of salt. We assessed the accuracy for the screening of Down syndrome (trisomy 21), Edward syndrome (trisomy 18), Patau syndrome (trisomy 13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome. Sending hugs your way! No problems feeding, no hypotonia, no physical abnormalities. 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. Two approaches used for gNIPT are massively parallel shotgun sequencing (MPSS) and targeted massively parallel sequencing (TMPS). Apparently the 1:100-200 figures come from studies as far back as the 70s. However, there were some problems with how the studies were conducted which makes us cautious about our findings. Thank you! I’m anxious about it anyway, of course, but we feel we need to do it so that we can be prepared if the diagnosis is confirmed. Maternal karyotype was mosaic (45, X[4], 46, XX[26]) in one case. However, the genetic counselor said they and most other doctors disagree with the way Natera calculates this, so they have their own method. ❤️, 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. (Unless he tests for multiple Xes, which is more rare and severe and doesn’t seem to be the case so far.) This may result in gNIPT appearing to perform better than it really does. When they were exploring causes for the infertility troubles, that’s when he discovered he had Klinefelter’s. Sounds like you’re taking a positive and healthy approach to it all, and I’m trying to as well! The most common trisomy is Down syndrome which occurs in about one in 1000 babies. Our last NT ultrasound came back normal (@12+ weeks of pregnancy). Children with Downs have slow growth, characteristic facial features and mild to moderate intellectual disability, with some requiring specialist education later in life. thank you! Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S, Légaré F, Giguère Y, Turgeon AF, Witteman W, Rousseau F, Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S, Légaré F, Giguère Y, Turgeon AF, Witteman W, Rousseau F. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. OP’s posts ... Hi @mumtolots4 we had a positive NIPT screening for Klinefelter's last December. I’m going for further genetic testing on Thursday. Mine said since the baby seems healthy overall that I do not have to, but it would definitely be reassuring.

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