Detection of fetal trisomy 9 mosaicism by noninvasive prenatal testing through maternal plasma DNA sequencing

Lee, Chung‐Yuan; Su, Hsing-Ju; Cheng, Yu-Tzu; Ku, Yu-Lun; Ngo, Yeh Giin; Chen, Che-Min; Ou, Yu‐Che; Lee, Meng-Chih; Shaw, Sheng-Wen

doi:10.1016/j.tjog.2018.06.021

Cited by 12 publications

(4 citation statements)

References 14 publications

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“…Cases concerning Chr9 detected by NIPT are sporadic in the literature, and evidence regarding the efficacy of NIPT for the evaluation of Chr9 remains inconclusive. Three cases of fetal trisomy 9 mosaicism that were initially suspected after NIPT and verified by an invasive counterpart were reported by Lee et al (Lee et al, 2018 ). In a similar report, Ma et al predicted the approximate mosaic ratio of trisomy 9 using NIPT (Ma et al, 2015 ).…”

Section: Discussionmentioning

confidence: 92%

“…Numerous studies have confirmed the feasibility of NIPT for detecting common chromosomal aneuploidy (13/18/21), and a few publications have described the detection of rare chromosomal aneuploidy, mosaicism, and copy number variation using NIPT (Lee et al, 2018). Cases concerning Chr9 detected by NIPT are sporadic in the literature, and evidence regarding the efficacy of NIPT for the evaluation of Chr9 remains inconclusive.…”

Section: Discussionmentioning

confidence: 99%

“…The advent of new technologies provides additional options for the detection of mosaicism, while also creating significant new uncertainties. Few publications have described the technical potential of NIPT for rare chromosomal aneuploidies and mosaicism, and its accuracy and effectiveness have yet to be well documented (Lee et al, 2018 ). Different mosaic levels discovered using different techniques have frequently been reported when diagnosing chromosomal aneuploidy mosaicism (Hao et al, 2020 ).…”

Section: Introductionmentioning

confidence: 99%

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Application of various genetic analysis techniques for detecting two rare cases of 9p duplication mosaicism during prenatal diagnosis

Zhang

Zhou

Xiao

et al. 2023

Molec Gen & Gen Med

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BackgroundThe identification of genetic mosaicism and the genetic counseling needed following its discovery have been challenging problems in the field of prenatal diagnosis. Herein, we describe the clinical phenotypes and various prenatal diagnostic processes used for two rare cases of 9p duplication mosaicism and review the prior literature in the field to evaluate the merits of different methods for diagnosing mosaic 9p duplication.MethodsWe recorded ultrasound examinations, reported the screening and diagnosis pathways, and analyzed the mosaic levels of the two cases of 9p duplication using karyotype analysis, chromosomal microarray analysis (CMA), and fluorescence in situ hybridization analysis (FISH).ResultsCase 1 had a normal clinical phenotype for tetrasomy 9p mosaicism, and Case 2 showed multiple malformations caused by both trisomy 9 and trisomy 9p mosaicism. Both cases were initially suspected after non‐invasive prenatal screening (NIPT) based on cell‐free DNA. The mosaic ratio of 9p duplication found via karyotyping was lower than what was discovered by CMA and FISH, in both cases. Contrary to previous findings, the mosaic level of trisomy 9 found by karyotype analysis was greater than what was found by CMA, in terms of complex mosaicism involving trisomy 9 and trisomy 9p, in Case 2.ConclusionNIPT can indicate 9p duplication mosaicism during prenatal screening. Different strengths and limitations existed in terms of diagnosing mosaic 9p duplication by karyotype analysis, CMA, and FISH. The combined use of various methods may be capable of more accurately determining break‐points and mosaic levels of 9p duplication during prenatal diagnosis.

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Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Application of various genetic analysis techniques for detecting two rare cases of 9p duplication mosaicism during prenatal diagnosis

Zhang

Zhou

Xiao

et al. 2023

Molec Gen & Gen Med

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“…The trisomy is responsible for the symptoms and physical anomalies that characterize T9MS. A recent case study supported the role of noninvasive prenatal testing by maternal plasma DNA sequencing as a potential mode of screening for T9MS [9].…”

Section: Hospital Coursementioning

confidence: 95%

Trisomy 9 Mosaicism Syndrome in a Female Child

Khan¹

2020

IJIPEM

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Outstanding research paper awards of the 2018 Taiwanese Journal of Obstetrics and Gynecology

Wang

Chen

Kuo

2019

Taiwanese Journal of Obstetrics and Gynecology

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Detection of fetal trisomy 9 mosaicism by noninvasive prenatal testing through maternal plasma DNA sequencing

Abstract: This case shows strong evidence that NIPT can be a powerful screening tool to detect rare fetal trisomies at very early gestation.

Cited by 12 publications

References 14 publications

Application of various genetic analysis techniques for detecting two rare cases of 9p duplication mosaicism during prenatal diagnosis

Application of various genetic analysis techniques for detecting two rare cases of 9p duplication mosaicism during prenatal diagnosis

Trisomy 9 Mosaicism Syndrome in a Female Child

Outstanding research paper awards of the 2018 Taiwanese Journal of Obstetrics and Gynecology

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