❤️. We are going to try to get in with the genetic counselor tomorrow just to see what the accuracy is. Any Klinefelter’s parents here who can put my mind and heart at ease about what may come (or be straight about the challenges)? The corresponding clinical specificity was above 99.9% for T21, T18 and T13. Having an extra chromosome is called trisomy and an excess (or less) of sexual chromosome is called sex chromosome abnormality (SCA). Enjoy this special time with your baby! We searched for studies (up to July 2016) that assessed the accuracy of the new test. Mine said since the baby seems healthy overall that I do not have to, but it would definitely be reassuring. 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. Sixty-five studies of 86,139 pregnant women (3141 aneuploids and 82,998 euploids) were included. Two Klinefelter syndrome cases were also accurately predicted by NIPT. Create an account or log in to participate. In the population of unselected pregnant women, MPSS was evaluated by only one study; the study assessed T21, T18 and T13. 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. The gNIPT results were confirmed by a reference standard such as fetal karyotype or neonatal clinical examination. 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. 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. Your patient’s NIPT result suggests the presence of an extra copy of the X chromosome. 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. Only one was a true positive. 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. Did you get further genetic testing done? 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. Among the 65 studies, 44 evaluated MPSS and 21 evaluated TMPS; of these, five studies also compared gNIPT with a traditional screening test (biochemical, ultrasound or both). 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. 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. I’ll share anything I learn with you as well ❤️. My patient’s NIPT is positive for XXY syndrome (Klinefelter syndrome). Of the 65 studies, 42 enrolled pregnant women at high risk, five recruited an unselected population and 18 recruited cohorts with a mix of prior risk of fetal aneuploidy. We assessed MPSS (massively parallel shotgun sequencing) that tests whole DNA and TMPS (targeted massively parallel sequencing) that tests targeted DNA. No problems feeding, no hypotonia, no physical abnormalities. My baby's NIPT results also came back as high risk for Klinefelter syndrome. 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. Do you know whether you’ll do an amnio? 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. The actual chance for the pregnancy to have XXY syndrome depends on many factors, including the patient’s clinical and family history. 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). Quite a range, so I take it all with a grain of salt. We use cookies to improve your experience on our site. : CD011767. 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. There are different methods in use for gNIPT. We did the Natera test. I was born perfectly healthy even after the doctors told her to abort me! I’m going for further genetic testing on Thursday. thank you! Our last NT ultrasound came back normal (@12+ weeks of pregnancy). 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. I’d love to just be able to talk about how we’re feeling. No. NIPT indicated monosomy X in 11 cases. 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. How are you and the little one doing? We keep going back and forth on whether to do an amnio or not. Yes, please keep me posted. 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. NIPT is a screening test; false positives can occur. Abnormal numbers of chromosomes can cause genetic disorders for which there are no cures. 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. As hard as I know it is, focus on that positive - and I need to take my own advice as well! Use of this site is subject to our terms of use and privacy policy. Where possible, hierarchical models or simpler alternatives were used for meta-analysis. I’m surprising my husband because we are expecting to have a boy as our first child. We had genetic counseling and elected to terminate. The clinical specificities were above 100% for T21, T18 and T13 and 99.8% (98.3% to 100%) for 45,X. 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. Wow. However, there were some problems with how the studies were conducted which makes us cautious about our findings. Scared... Find advice, support, and good company (and some stuff just for fun).