I’ll be getting a more detailed sono tomorrow from a perinatologist, I guess to check for any other abnormalities, and to talk about next steps. My OB told me this is not diagnostic; the test is only 52% accurate for this particular abnormality, and only an amniocentesis will tell for sure. We keep going back and forth on whether to do an amnio or not. Any Klinefelter’s parents here who can put my mind and heart at ease about what may come (or be straight about the challenges)? 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. Yes, please keep me posted. Hi! 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. Mine said since the baby seems healthy overall that I do not have to, but it would definitely be reassuring. Good thing they are sending you to a high risk OB! The accuracy of gNIPT as a prenatal screening test has been mainly evaluated as a second-tier screening test to identify pregnancies at very low risk of fetal aneuploidies (T21, T18 and T13), thus avoiding invasive procedures. He said he lived a relatively normal life prior to the diagnosis with hardly any of the common symptoms of KS. Sending hugs your way! 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. I’m surprising my husband because we are expecting to have a boy as our first child. Sounds like you've done your research and that's the best you can do for now. I’ll share anything I learn with you as well ❤️. this is really heartening, thank you. 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? Best of luck to you! As hard as I know it is, focus on that positive - and I need to take my own advice as well! If your baby does have KS, I recommend checking out The Focus Group/Dr. She said that the NIPT result read "26% XXY" which they consider... Hi everyone. Also look into programs if it is determined that the test is accurate. I looked for another OB and also researched here and there. We conclude that given the current data on the performance of gNIPT, invasive fetal karyotyping is still the required diagnostic approach to confirm the presence of a chromosomal abnormality prior to making irreversible decisions relative to the pregnancy outcome. No study was judged to be at low risk of bias across the four domains of the QUADAS-2 tool but applicability concerns were generally low. Only one was a true positive. Amniocentesis is where fetal cells that float in the fluid surrounding the unborn baby are collected by putting a fine needle through the mother’s abdomen and collecting the fluid. There are 46 chromosomes (23 pairs) in humans. On the other, we’re dealing with the crushing emotions of learning our little boy may have challenges and pain that we didn’t see coming. What does this mean? My son was born at the end of August and I’m still waiting for the genetic results. 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. We looked for studies that included women of any age, ethnicity and gestational age who were carrying either a single baby or more than one. : CD011767. If you feel a message or content violates these standards and would like to request its removal please submit the following information and our moderating team will respond shortly. I’ll be thinking of you and hoping for the best for both of us! This educational content is not medical or diagnostic advice. 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. 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. Quite a range, so I take it all with a grain of salt. There are many treatment options and therapies so your baby can live a happy, healthy life! We use cookies to improve your experience on our site. We searched for studies (up to July 2016) that assessed the accuracy of the new test. Keeping you in my thoughts as well! However, no study compared the two approaches head-to-head in the same cohort of patients. However, most of the gNIPT studies were prone to bias, especially in terms of the selection of participants. In pooled analyses (88 T21 cases, 22 T18 cases, eight T13 cases and 20,649 unaffected pregnancies (non T21, T18 and T13)), the clinical sensitivity (95% confidence interval (CI)) of TMPS was 99.2% (78.2% to 100%), 90.9% (70.0% to 97.7%) and 65.1% (9.16% to 97.2%) for T21, T18 and T13, respectively. Current screening tests for these conditions require confirmation if the baby has the condition or not and for this an invasive test like amniocentesis is used. These results show that MPSS and TMPS perform similarly in terms of clinical sensitivity and specificity for the detection of fetal T31, T18, T13 and sex chromosome aneuploidy (SCA). Thanks for reading, and wishing everyone healthy, happy pregnancies. Forty-six out of 65 studies (71%) reported gNIPT assay failure rate, which ranged between 0% and 25% for MPSS, and between 0.8% and 7.5% for TMPS. Did your OB tell you what % chance your little boy has of having KS/how accurate the NIPT was? Hello!I am writing on this to comfort other mommas out there. 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. On one hand, we’re grateful that this isn’t a life-threatening diagnosis, and we are not considering terminating the pregnancy if it’s confirmed. 4 weeks ago we received a call from a genetics counselor that our baby had a high risk of XXY (Klinefelter's syndrome). 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. Introduction: Noninvasive prenatal testing (NIPT) is a reliable screening method for fetal aneuploidy detection of trisomy 18, 13, 21 along with few sex chromosome abnormalities monosomy X, XXX, XXY (Klinefelter), XYY (Jacob) syndromes and certain microdeletions which include cri-du-chat, DiGeorge, 1p36, Angelman, and Prader-Willi syndromes in comparison to the available screening methods. 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. We just saw a pediatric endocrinologist last week and are going to do a virtual consultation with Dr. Carole Samango-Sprouse, one of the leading specialists in XXY, in the next couple of weeks. I’m stYing hopeful for you and you will be in my thoughts!! Ahh, I’ll be thinking of you!

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