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Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.
Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S, Légaré F, Giguère Y, Turgeon AF, Witteman W, Rousseau F. Badeau M, et al. Cochrane Database Syst Rev. 2017 Nov 10;11(11):CD011767. doi: 10.1002/14651858.CD011767.pub2. Cochrane Database Syst Rev. 2017. PMID: 29125628 Free PMC article. Review.
BACKGROUND: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47, …
BACKGROUND: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau …
Reducing false positive rate of fetal monosomy X in non-invasive prenatal testing using a combined algorithm to detect maternal mosaic monosomy X.
Phan MD, Vo BT, Nguyen TV, Tran NT, Trinh HNT, Nguyen TTQ, Nguyen NH, Tran TT, Tran UV, Dao TTH, Pham AH, Tran TH, Truong KD, Hoang TTD, Do TT, Nguyen HN, Giang H. Phan MD, et al. Prenat Diagn. 2019 Mar;39(4):324-327. doi: 10.1002/pd.5430. Epub 2019 Feb 20. Prenat Diagn. 2019. PMID: 30719744 No abstract available.
Sonographic screening for fetal aneuploidy: first trimester.
Souter VL, Nyberg DA. Souter VL, et al. J Ultrasound Med. 2001 Jul;20(7):775-90. doi: 10.7863/jum.2001.20.7.775. J Ultrasound Med. 2001. PMID: 11444737 Review.
RESULTS: Although early studies showed wide variation in detection of fetal Down syndrome when using nuchal translucency, more recent studies showed sensitivities of approximately 70% to 80%, for a 5% false-positive rate. ...Together with maternal age, …
RESULTS: Although early studies showed wide variation in detection of fetal Down syndrome when using nuchal translucency, more recent …
Sphenofrontal distance in euploid and aneuploid fetuses.
Abele H, Sonek J, Goldschmid D, Wagner P, Hoopmann M, Kagan KO. Abele H, et al. Ultrasound Obstet Gynecol. 2017 Aug;50(2):187-191. doi: 10.1002/uog.17284. Epub 2017 Jul 9. Ultrasound Obstet Gynecol. 2017. PMID: 27550089 Free article.

Only one (12.5%) fetus with Turner syndrome and none with triploidy had SFD < 5(th) percentile. CONCLUSION: In aneuploid fetuses, the SFD is smaller than in their euploid counterparts. However, for a false-positive rate of 5%, the detection

…

Only one (12.5%) fetus with Turner syndrome and none with triploidy had SFD < 5(th) percentile. CONCLUSION: In aneuploid fe

…
The use of nuchal translucency in contemporary obstetric practice.
Said S, Malone FD. Said S, et al. Clin Obstet Gynecol. 2008 Mar;51(1):37-47. doi: 10.1097/GRF.0b013e318160f2ea. Clin Obstet Gynecol. 2008. PMID: 18303498 Review.
Nuchal translucency sonography is the most powerful single prenatal marker for Down syndrome. Its detection rate is 75% at a 5% false-positive rate. The combination of nuchal translucency and maternal serum-free beta-human chorionic gonadotropin …
Nuchal translucency sonography is the most powerful single prenatal marker for Down syndrome. Its detection rate is 75% at a 5 …
Cytogenetics and Molecular Investigations detect a Mosaic Variant of Turner Syndrome only Suspected by Non-Invasive Prenatal Testing: Two Case Reports with Negative Ultrasound Examinations.
Libotte F, Carpineto SL, Dello Russo C, Viola A, Margiotti K, Restaldi F, Novelli A, Mesoraca A, Giorlandino C. Libotte F, et al. J Med Life. 2020 Oct-Dec;13(4):624-628. doi: 10.25122/jml-2020-0092. J Med Life. 2020. PMID: 33456614 Free PMC article.
Although non-invasive prenatal test (NIPT) has become a standard screening procedure for all pregnant women, invasive sampling procedures remain important in confirming NIPT-positive findings. In the present study, we report discordant results of Turner syndrome …
Although non-invasive prenatal test (NIPT) has become a standard screening procedure for all pregnant women, invasive sampling procedures re …
The Value of Detailed First-Trimester Ultrasound Anomaly Scan for the Detection of Chromosomal Abnormalities.
Tekesin I. Tekesin I. Ultraschall Med. 2019 Dec;40(6):743-748. doi: 10.1055/a-0640-3148. Epub 2018 Sep 21. Ultraschall Med. 2019. PMID: 30241105 English.
RESULTS: 4005 fetuses were analyzed. 3856 were euploid, 149 aneuploid (trisomy 18: 40; trisomy 13: 14; triploidy: 3; Turner syndrome: 17; trisomy 21: 75 cases). 70-100 % of the fetuses with trisomy 18 and 13, triploidy and Turner syndrome but only 34.7 …
RESULTS: 4005 fetuses were analyzed. 3856 were euploid, 149 aneuploid (trisomy 18: 40; trisomy 13: 14; triploidy: 3; Turner syndro …
High false-positive non-invasive prenatal screening results for sex chromosome abnormalities: Are maternal factors the culprit?
Zhang B, Zhou Q, Chen Y, Shi Y, Zheng F, Liu J, Yu B. Zhang B, et al. Prenat Diagn. 2020 Mar;40(4):463-469. doi: 10.1002/pd.5529. Epub 2019 Aug 18. Prenat Diagn. 2020. PMID: 31318441
OBJECTIVE: To explore the impact of maternal sex chromosome aneuploidies (SCAs) and copy number variation (CNV) on false-positive results of non-invasive prenatal screening (NIPS) for predicting foetal SCAs. ...The ratio of cffDNA (ChrX)/cffDNA can tentatively disti …
OBJECTIVE: To explore the impact of maternal sex chromosome aneuploidies (SCAs) and copy number variation (CNV) on false-positive …
Relationships among maternal monosomy X mosaicism, maternal trisomy, and discordant sex chromosome aneuploidies.
Tang X, Du Y, Chen M, Zhang Y, Wang Z, Zhang F, Tan J, Yin T, Wang L. Tang X, et al. Clin Chim Acta. 2024 Feb 1;554:117770. doi: 10.1016/j.cca.2024.117770. Epub 2024 Jan 8. Clin Chim Acta. 2024. PMID: 38199578
In cases with 47, XXX false-positive results, 60 % (6/10) of them were maternal 47,XXX (5 cases) or maternal mosaicism 47,XXX (1 case). One (1/6, 16.7 %) case of maternal mosaicism monosomy X was detected in the false positive results of 47, XXY/47, XY …
In cases with 47, XXX false-positive results, 60 % (6/10) of them were maternal 47,XXX (5 cases) or maternal mosaicism 47,XXX …
Discordance between ultrasound and cell free DNA screening for monosomy X.
Kagan KO, Hoopmann M, Singer S, Schaeferhoff K, Dufke A, Mau-Holzmann UA. Kagan KO, et al. Arch Gynecol Obstet. 2016 Aug;294(2):219-24. doi: 10.1007/s00404-016-4077-y. Epub 2016 Mar 29. Arch Gynecol Obstet. 2016. PMID: 27022934 Review.
We performed a systematic review to assess the detection and false-positive rate. RESULTS: Seven studies fulfilled the inclusion criteria. In summary, there were 153 pregnancies with monosomy X and 4116 euploid ones. The detection and false-positive …
We performed a systematic review to assess the detection and false-positive rate. RESULTS: Seven studies fulfilled the …
48 results