Noninvasive prenatal testing for aneuploidy in twin pregnancies with maternal plasma DNA sequencing

AbstractMaternal plasma DNA sequencing based noninvasive prenatal testing (NIPT) has been proven to be highly accurate in the detection of trisomy 21, 18, 13, X and Y, however, few reports have been made on its detection efficiency of rare complex aneuploidies. Here, we report a case of fetal trisomy 9 mosaicism identified by using NIPT, which may provide useful information for the further integration of NIPT into prenatal screening and diagnosis practice.

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

Taiwanese Journal of Obstetrics and Gynecology ◽

10.1016/j.tjog.2018.06.021 ◽

2018 ◽

Vol 57 (4) ◽

pp. 594-597 ◽

Cited By ~ 1

Author(s):

Chung-Yuan Lee ◽

Hsing-Ju Su ◽

Yu-Tzu Cheng ◽

Yu-Lun Ku ◽

Yeh Giin Ngo ◽

...

Keyword(s):

Dna Sequencing ◽

Prenatal Testing ◽

Maternal Plasma ◽

Plasma Dna ◽

Noninvasive Prenatal Testing ◽

Trisomy 9

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Noninvasive Prenatal Testing by Nanopore Sequencing of Maternal Plasma DNA: Feasibility Assessment

Clinical Chemistry ◽

10.1373/clinchem.2015.245076 ◽

2015 ◽

Vol 61 (10) ◽

pp. 1305-1306 ◽

Cited By ~ 21

Author(s):

Suk Hang Cheng ◽

Peiyong Jiang ◽

Kun Sun ◽

Yvonne K Y Cheng ◽

K C Allen Chan ◽

...

Keyword(s):

Prenatal Testing ◽

Maternal Plasma ◽

Nanopore Sequencing ◽

Plasma Dna ◽

Noninvasive Prenatal Testing ◽

Feasibility Assessment

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Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases

Clinical Chemistry ◽

10.1373/clinchem.2016.268375 ◽

2017 ◽

Vol 63 (2) ◽

pp. 513-524 ◽

Cited By ~ 54

Author(s):

Winnie W I Hui ◽

Peiyong Jiang ◽

Yu K Tong ◽

Wing-Shan Lee ◽

Yvonne K Y Cheng ◽

...

Keyword(s):

Single Gene ◽

Family Members ◽

Prenatal Testing ◽

Maternal Plasma ◽

Nucleotide Polymorphisms ◽

Plasma Dna ◽

Sequencing Technology ◽

Noninvasive Prenatal Testing ◽

Haplotype Phasing ◽

Mutational Status

Abstract BACKGROUND Researchers have developed approaches for the noninvasive prenatal testing of single gene diseases. One approach that allows for the noninvasive assessment of both maternally and paternally inherited mutations involves the analysis of single nucleotide polymorphisms (SNPs) in maternal plasma DNA with reference to parental haplotype information. In the past, parental haplotypes were resolved by complex experimental methods or inferential approaches, such as through the analysis of DNA from other affected family members. Recently, microfluidics-based linked-read sequencing technology has become available and allows the direct haplotype phasing of the whole genome rapidly. We explored the feasibility of applying this direct haplotyping technology in noninvasive prenatal testing. METHODS We first resolved the haplotypes of parental genomes with the use of linked-read sequencing technology. Then, we identified SNPs within and flanking the genes of interest in maternal plasma DNA by targeted sequencing. Finally, we applied relative haplotype dosage analysis to deduce the mutation inheritance status of the fetus. RESULTS Haplotype phasing and relative haplotype dosage analysis of 12 out of 13 families were successfully achieved. The mutational status of these 12 fetuses was correctly classified. CONCLUSIONS High-throughput linked-read sequencing followed by maternal plasma-based relative haplotype dosage analysis represents a streamlined approach for noninvasive prenatal testing of inherited single gene diseases. The approach bypasses the need for mutation-specific assays and is not dependent on the availability of DNA from other affected family members. Thus, the approach is universally applicable to pregnancies at risk for the inheritance of a single gene disease.

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