Detection of fetal copy number variants by non‐invasive prenatal testing for common aneuploidies

Li, Ru; Wan, Jun-Hui; Zhang, Yongling; Fu, Fang; Ou, Yan-Mei; Jing, Xiangyi; Li, Jian; Li, Dong-Zhi; Liao, Can

doi:10.1002/uog.14911

Cited by 68 publications

(74 citation statements)

References 14 publications

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“…Various algorithmic modifications have been proposed or employed to improve the detection of smaller imbalances. These include adjustments for GC content (12,13), increasing the depth of sequencing (14)(15)(16), additional normalizing of data (17,18), selection of the most informative sequences in each region (principle component analysis) (15,19), use of a probabilistic statistical model for computing likelihood of an imbalance (20), and averaging across sub-regions often using sliding windows (15,18,21,22). This latter approach increases chance of detection but has the disadvantage of leading to some ambiguity in defining breakpoints.…”

Section: Methods To Detect Additional Abnormalitiesmentioning

confidence: 99%

Expanding non‐invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y

Benn

2016

Clinical Genetics

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Non-invasive prenatal testing (NIPT) based on cell-free DNA in maternal plasma is being expanded to include additional chromosome abnormalities beyond those involving chromosomes 21, 18, 13, X and Y. Review of population cytogenetic data provides insight into the likely number of additional abnormalities detectable. Additional clinically significant and cytogenetically recognizable abnormalities are present in less than 0.1% of newborns but clinically significant, or potentially significant, sub-microscopic imbalances are expected to be present in 1.7%. Cytogenetic studies on chorionic villus samples suggests that after excluding abnormalities involving chromosomes 21, 18, 13, X and Y, approximately 0.6% of NIPT results may be positive for an unbalanced abnormality attributable to mosaicism but most of these will not be confirmed at amniocentesis or in newborns. NIPT has also been developed for specific microdeletion syndromes and initial experience is now available. Laboratory procedures such as deeper sequencing and additional data analytics are rapidly evolving but even with existing protocols, it is already clear that NIPT does not necessarily need to be limited to trisomies 21, 18, 13 and the sex-chromosome abnormalities. Patient educational materials and genetic counseling services need to be available for women offered expanded NIPT.

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Section: Methods To Detect Additional Abnormalitiesmentioning

confidence: 99%

Expanding non‐invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y

Benn

2016

Clinical Genetics

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“…Noninvasive prenatal testing has been recommended as a first‐tier or second‐tier screening test for fetal common trisomies, with lower false‐positive rates and higher positive predictive values than serum biochemical screening . Noninvasive prenatal testing can also enable the detection of other aneuploidies, including sex chromosome aneuploidies (SCA) and structural chromosomal abnormalities . However, most of the published data have mainly focused on 3 common aneuploidies, SCA, and subchromosomal deletions/duplications.…”

Section: Introductionmentioning

confidence: 99%

Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice

Wan

Zhang

et al. 2018

Prenatal Diagnosis

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“…5,6 Accordingly, non-invasive detection of foetal CNVs was encouraged by the successful application of NGS on cffDNA in screening for aneuploidy. Li et al 7 Current researches suggest that the resolution of CNVs detected by NIPT can reach 1Mb with present technologies, and the accuracy in detecting CNVs > 10 Mb is sufficiently high. The latest large cohort study by Liang et al 11 documented that non-invasive screening for CNVs can be adopted as the first-tier prenatal approach.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of non‐invasive prenatal testing to detect chromosomal aberrations in a Chinese cohort

Cui

Liu

Zhang

et al. 2019

J Cellular Molecular Medi

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The aim of this study was to evaluate the clinical feasibility of non‐invasive prenatal testing (NIPT) to detect foetal copy number variations (CNVs). Next‐generation sequencing for detecting foetal copy number variations (CNVs) was performed on the collected samples from 161 pregnancies with ultrasound anomalies and negative NIPT results for aneuploidy. The performance of NIPT for detecting chromosome aberrations was calculated. The sensitivity and specificity of NIPT for detecting CNVs > 1 Mb were 83.33% and 99.34%; the PPV and negative predictive rate (NPV) were 90.91% and 98.68%. Non‐invasive prenatal testing can be performed to detect chromosomal aberrations in first trimester with high performance for CNVs, and occasional discordant cases are unavoidable.

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Detection of fetal copy number variants by non‐invasive prenatal testing for common aneuploidies

Abstract: Objective To evaluate the clinical performance of non-invasive prenatal testing (NIPT) in detecting fetal copy number variants (CNVs). Methods

Cited by 68 publications

References 14 publications

Expanding non‐invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y

Expanding non‐invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y

Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice

Evaluation of non‐invasive prenatal testing to detect chromosomal aberrations in a Chinese cohort

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