Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision-making

2018 ◽  
Vol 38 (11) ◽  
pp. 841-848 ◽  
Author(s):  
Aarti Ramdaney ◽  
Jennifer Hoskovec ◽  
Jacqueline Harkenrider ◽  
Eleazar Soto ◽  
Lauren Murphy
Keyword(s):  
Decision Making ◽  
Clinical Experience ◽  
Sex Chromosome ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Patient Decision Making ◽  
Patient Decision ◽  
Sex Chromosome Aneuploidies

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.

scholarly journals Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Yibo Chen ◽  
Qi Yu ◽  
Xiongying Mao ◽  
Wei Lei ◽  
Miaonan He ◽  
...  
Keyword(s):  
Clinical Features ◽  
Sex Chromosome ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Trisomy 13 ◽  
Noninvasive Prenatal Testing ◽  
Detection Rates ◽  
Non Invasive ◽  
Cell Free Fetal Dna ◽  
Sex Chromosome Aneuploidies

Abstract Background Since the discovery of cell-free DNA (cfDNA) in maternal plasma, it has opened up new approaches for non-invasive prenatal testing. With the development of whole-genome sequencing, small subchromosomal deletions and duplications could be found by NIPT. This study is to review the efficacy of NIPT as a screening test for aneuploidies and CNVs in 42,910 single pregnancies. Methods A total of 42,910 single pregnancies with different clinical features were recruited. The cell-free fetal DNA was directly sequenced. Each of the chromosome aneuploidies and the subchromosomal microdeletions/microduplications of PPV were analyzed. Results A total of 534 pregnancies (1.24%) were abnormal results detected by NIPT, and 403 pregnancies had underwent prenatal diagnosis. The positive predictive value (PPV) for trisomy 21(T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies (SCAs), and other chromosome aneuploidy was 79.23%, 54.84%, 13.79%, 33.04%, and 9.38% respectively. The PPV for CNVs was 28.99%. The PPV for CNVs ≤ 5 Mb is 20.83%, for within 5–10 Mb 50.00%, for > 10 Mb 27.27% respectively. PPVs of NIPT according to pregnancies characteristics are also different. Conclusion Our data have potential significance in demonstrating the usefulness of NIPT profiling not only for common whole chromosome aneuploidies but also for CNVs. However, this newest method is still in its infancy for CNVs. There is still a need for clinical validation studies with accurate detection rates and false positive rates in clinical practice.

Impact of early diagnosis and noninvasive prenatal testing (NIPT): Knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs)

2020 ◽  
Vol 40 (4) ◽  
pp. 470-480 ◽  
Author(s):  
Carole A. Samango‐Sprouse ◽  
Grace F. Porter ◽  
Patricia C. Lasutschinkow ◽  
Selena L. Tran ◽  
Teresa Sadeghin ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Sex Chromosome ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Sex Chromosome Aneuploidies

scholarly journals Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing

2014 ◽  
Vol 60 (1) ◽  
pp. 251-259 ◽  
Author(s):  
Yanlin Wang ◽  
Yan Chen ◽  
Feng Tian ◽  
Jianguang Zhang ◽  
Zhuo Song ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Massively Parallel Sequencing ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Noninvasive Prenatal Testing ◽  
The Common ◽  
Chromosomal Aneuploidies ◽  
Sex Chromosome Aneuploidies

Abstract BACKGROUND In the human fetus, sex chromosome aneuploidies (SCAs) are as prevalent as the common autosomal trisomies 21, 18, and 13. Currently, most noninvasive prenatal tests (NIPTs) offer screening only for chromosomes 21, 18, and 13, because the sensitivity and specificity are markedly higher than for the sex chromosomes. Limited studies suggest that the reduced accuracy associated with detecting SCAs is due to confined placental, placental, or true fetal mosaicism. We hypothesized that an altered maternal karyotype may also be an important contributor to discordant SCA NIPT results. METHODS We developed a rapid karyotyping method that uses massively parallel sequencing to measure the degree of chromosome mosaicism. The method was validated with DNA models mimicking XXX and XO mosaicism and then applied to maternal white blood cell (WBC) DNA from patients with discordant SCA NIPT results. RESULTS Sequencing karyotyping detected chromosome X (ChrX) mosaicism as low as 5%, allowing an accurate assignment of the maternal X karyotype. In a prospective NIPT study, we showed that 16 (8.6%) of 181 positive SCAs were due to an abnormal maternal ChrX karyotype that masked the true contribution of the fetal ChrX DNA fraction. CONCLUSIONS The accuracy of NIPT for ChrX and ChrY can be improved substantially by integrating the results of maternal-plasma sequencing with those for maternal-WBC sequencing. The relatively high frequency of maternal mosaicism warrants mandatory WBC testing in both shotgun sequencing– and single-nucleotide polymorphism–based clinical NIPT after the finding of a potential fetal SCA.

A first look at women's perspectives on noninvasive prenatal testing to detect sex chromosome aneuploidies and microdeletion syndromes

2015 ◽  
Vol 35 (7) ◽  
pp. 692-698 ◽  
Author(s):  
Patricia K. Agatisa ◽  
Mary Beth Mercer ◽  
Angela C. Leek ◽  
Marissa B. Smith ◽  
Elliot Philipson ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Microdeletion Syndromes ◽  
Sex Chromosome Aneuploidies
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