Maternal mosaicism of sex chromosome causes discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing

Wang, Leilei; Meng, Qian; Tang, Xinxin; Yin, Ting; Zhang, Jinglu; Yang, Shunli; Wang, Xuyun; Wu, Haiqian; Shi, Qingxi; Jenkins, Edmund C.; Zhong, Nanbert; Gu, Ying

doi:10.1016/j.tjog.2014.10.009

Cited by 37 publications

(21 citation statements)

References 34 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…False positives for NIPT can occur for a number of reasons, including maternal mosaicism [Yao et al, ; Wang et al, ], maternal cancer [Osborne et al, ; Bianchi et al, ], a demised twin [Futch et al, ; Curnow et al, ], or most commonly, confined placental mosaicism [Choi et al, ; Hall et al, ; Pan et al, , ; Chen et al, ,; Mao et al, ; Zhang et al, ]. Mosaicism in general is a biological phenomenon when two or more chromosomally distinct cell lines arising from a single zygote are both found in an individual.…”

Section: Introductionmentioning

confidence: 99%

Confined placental mosaicism and its impact on confirmation of NIPT results

Mardy¹,

Wapner²

2016

American J of Med Genetics Pt C

View full text Add to dashboard Cite

Non-invasive prenatal testing (NIPT) has been widely used to screen for common aneuploidies since 2011. While NIPT is highly sensitive and specific, false positive results can occur. One important cause of false positive results is confined placental mosaicism (CPM). This can occur through a mitotic nondisjunction event or through aneuploidy rescue. CPM is usually associated with normal fetal outcomes, but has been associated with intrauterine growth restriction, pregnancy loss, or perinatal death in some cases. CPM may also be a marker for uniparental disomy. Given that NIPT can result in false positives, positive results should be confirmed with invasive testing before any irreversible procedure is performed. Whether to perform CVS or amniocentesis to confirm a positive NIPT result is controversial. While CVS can be performed earlier than amniocentesis, CPM can also cause false positive results. Our practice is to proceed with CVS, and to examine all cell lines using both an uncultured sample using fluorescence in situ hybridization (FISH) or short-term culture, as well as long-term culture of the sample. If the results all show aneuploidy, the results are reported to the patient. Otherwise, if the results are also mosaic, amniocentesis is recommended and analyzed by both FISH and karyotype. © 2016 Wiley Periodicals, Inc.

show abstract

Section: Introductionmentioning

confidence: 99%

Confined placental mosaicism and its impact on confirmation of NIPT results

Mardy¹,

Wapner²

2016

American J of Med Genetics Pt C

View full text Add to dashboard Cite

show abstract

“…Firstly, there are 58 homologous genes on X and Y chromosome, 29 genes are located at the ends of sex chromosomes. The sequencing length of expanded NIPT is as short as 36 bases, therefore, an error in sequencing these homologous genes might easily occur on X and Y chromosomes [16]; Secondly, X chromosome mosaicism is another contributing maternal factor to the difference in pregnant women [18].…”

Section: Discussionmentioning

confidence: 99%

Parental willing to take invasive diagnosis after Expanded Noninvasive Prenatal Testing (expanded NIPT) in a cohort of 24768 cases

Zhuang

et al. 2020

Preprint

View full text Add to dashboard Cite

BackgroundThe main aims of the study were to investigate the performance of expanded noninvasive prenatal test (expanded NIPT) in screening for common trisomies, sex chromosomal aneuploidies (SCAs), rare autosomal aneuploidies (RATs) and copy number variations (CNVs) and parental willing to taking invasive prenatal diagnosis after expanded NIPT in China. ResultsOf the 24,736 cases, successful follow-up was conducted in 92.2% (411/446) cases. The sensitivity of expanded NIPT test was 98.61%,90.91% and 100% and specificity was 99.91%,99.95% and 99.87% for the detection of trisomies 21, 18 and 13 respectively. Expanded NIPT detected 45, XO, 47, XXX,

show abstract

“…Most falsepositive results can be explained by confined placental mosaicism, since the primary source of fetal DNA in the maternal circulation is the placental cytotrophoblast. 1 Other causes of false-positive NIPS results are maternal mosaicism, 2 maternal copy-number variants, 3 maternal cancer, 4 or a vanishing twin. 5 We detected a roughly 20 megabase (Mb) deletion of 10 (q25 → qter) in eight independent samples tested.…”

Section: Introductionmentioning

confidence: 99%

Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results

Amsterdam

Straver

Maarle

et al. 2018

Genetics in Medicine

View full text Add to dashboard Cite

The recurring 10(q25→qter) deletion detected with NIPS is a false-positive result caused by a maternal low-level mosaic deletion associated with FRA10B expansions. This has important consequences for clinical follow-up, as invasive procedures are unnecessary. Expanded maternal FRA10B repeats should be added to the growing group of variants in the maternal genome that may cause false-positive NIPS results.

show abstract

Maternal mosaicism of sex chromosome causes discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing

Abstract: Our findings indicated that maternal mosaicism of sex chromosome could cause discordant sex chromosomal aneuploidies associated with NIPT. We highly recommended that maternal karyotype should be confirmed for the cases with abnormal results in NIPT.

Cited by 37 publications

References 34 publications

Confined placental mosaicism and its impact on confirmation of NIPT results

Confined placental mosaicism and its impact on confirmation of NIPT results

Parental willing to take invasive diagnosis after Expanded Noninvasive Prenatal Testing (expanded NIPT) in a cohort of 24768 cases

Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results

Contact Info

Product

Resources

About