High false‐positive non‐invasive prenatal screening results for sex chromosome abnormalities: Are maternal factors the culprit?

2020 ◽  
Vol 40 (4) ◽  
pp. 463-469 ◽  
Author(s):  
Bin Zhang ◽  
Qin Zhou ◽  
Yingping Chen ◽  
Ye Shi ◽  
Fangxiu Zheng ◽  
...  
Keyword(s):  
False Positive ◽  
Prenatal Screening ◽  
Sex Chromosome ◽  
Chromosome Abnormalities ◽  
Maternal Factors ◽  
Non Invasive ◽  
Sex Chromosome Abnormalities

scholarly journals Cell-Free DNA Screening for Sex Chromosome Abnormalities and Pregnancy Outcomes, 2018–2020: A Retrospective Analysis

2022 ◽  
Vol 12 (1) ◽  
pp. 48
Author(s):  
Yanmei Lu ◽  
Shihao Zhou ◽  
Siyuan Linpeng ◽  
Siyi Ding ◽  
Shihong Li ◽  
...  
Keyword(s):  
Pregnancy Outcomes ◽  
Sex Chromosome ◽  
Chromosome Abnormalities ◽  
Fetal Diagnosis ◽  
Fetal Sex ◽  
Non Invasive ◽  
Total Incidence ◽  
Sex Chromosome Abnormalities ◽  
Structural Abnormalities

To evaluate the efficacy of non-invasive prenatal screening (NIPT) for detecting fetal sex chromosome abnormalities, a total of 639 women carrying sex chromosome abnormalities were selected from 222,107 pregnant women who participated in free NIPT from April 2018 to December 2020. The clinical data, prenatal diagnosis results, and follow-up pregnancy outcomes of participants were collected. The positive predictive value (PPV) was used to analyze the performance of NIPT. Around 235 cases were confirmed with sex chromosome abnormalities, including 229 cases with sex chromosome aneuploidy (45, X (n = 37), 47, XXX (n = 37), 47, XXY (n = 110), 47, XYY (n = 42)) and 6 cases with structural abnormalities. The total incidence rate was 0.11% (235/222,107). The PPV of NIPT was 45.37% (235/518). NIPT accuracy for detecting sex chromosome polysomes was higher than that for sex chromosome monomers. The termination of pregnancy rate for fetal diagnosis of 45, X, and 47, XXY was higher than that of 47, XXX, and 47, XYY. The detection rate of fetal sex chromosome abnormalities was higher in 2018–2020 than in 2010–2012 (χ2 = 69.708, P < 2.2 × 10−16), indicating that NIPT is greatly efficient to detect fetal sex chromosome abnormalities.

scholarly journals Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome

2015 ◽  
Vol 30 (10) ◽  
pp. 2419-2426 ◽  
Author(s):  
Mette Hansen Viuff ◽  
Kirstine Stochholm ◽  
Niels Uldbjerg ◽  
Birgitte Bruun Nielsen ◽  
Claus Højbjerg Gravholt ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Prenatal Screening ◽  
Sex Chromosome ◽  
Screening Program ◽  
Chromosome Abnormalities ◽  
Sex Chromosome Abnormalities

scholarly journals Non-invasive prenatal testing for sex chromosome abnormalities: a source of confusion

2015 ◽  
Vol 2015 (jan28 1) ◽  
pp. bcr2014207309-bcr2014207309 ◽  
Author(s):  
E. Kalafat ◽  
M. M. Seval ◽  
B. Turgay ◽  
A. Koc
Keyword(s):  
Sex Chromosome ◽  
Prenatal Testing ◽  
Chromosome Abnormalities ◽  
Non Invasive ◽  
Sex Chromosome Abnormalities

The epidemiology of sex chromosome abnormalities

2020 ◽  
Vol 184 (2) ◽  
pp. 202-215
Author(s):  
Agnethe Berglund ◽  
Kirstine Stochholm ◽  
Claus Højbjerg Gravholt
Keyword(s):  
Sex Chromosome ◽  
Chromosome Abnormalities ◽  
Sex Chromosome Abnormalities

Efficiency of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies

2021 ◽  
pp. 1-9
Author(s):  
Yunfang Shi ◽  
Xiaozhou Li ◽  
Duan Ju ◽  
Yan Li ◽  
Xiuling Zhang ◽  
...  
Keyword(s):  
Screening Tool ◽  
Sex Chromosome ◽  
Diagnostic Testing ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Chromosome Abnormalities ◽  
Noninvasive Prenatal Testing ◽  
Sex Chromosome Abnormalities ◽  
Sex Chromosome Aneuploidies ◽  
Mosaic Karyotype

<b><i>Objective:</i></b> This study was designed to investigate the efficiency of noninvasive prenatal testing (NIPT) for screening fetal sex chromosome aneuploidies (SCAs) through sequencing of cell-free DNA in maternal plasma. <b><i>Methods:</i></b> This is a retrospective study on the positive NIPT results for SCAs collected from our hospital between January 2012 and December 2018. Samples with positive NIPT results for SCAs were then confirmed by prenatal or postnatal karyotyping analysis. <b><i>Results:</i></b> After cytogenetic analysis, abnormal karyotypes were confirmed in 104 cases and the overall positive predictive value (PPV) of NIPT for SCAs was 43.40% (102/235). The most frequently detected karyotypes included 47,XXY (<i>n</i> = 42), 47,XXX (<i>n</i> = 20), 47,XYY (<i>n</i> = 16), and 45,X (<i>n</i> = 2). Meanwhile, 10 cases were confirmed with mosaic karyotype 45,X/46,XX and 14 cases with numerical or structural chromosome abnormalities, including a double trisomy 48,XXX,+18. Cytogenetic results from the other 131 cases showed normal XX or XY, which were discordant with NIPT results. Upon analysis of parental karyotypes, 29 (12.34%) showed false positivity in NIPT results that were caused by maternal sex chromosome abnormalities. <b><i>Conclusion:</i></b> NIPT is an effective screening tool for SCA with a PPV of 43.40%. Maternal karyotype abnormalities occurred in 12.34% of the cases with abnormal NIPT. Diagnostic testing of the fetus and the mother are recommended.

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