Research Progress of Copy Number Variation Sequencing in Prenatal Diagnosis

doi:10.12280/gjfckx.20200527

Abstract

Abstract:

It′s reported that congenital heart disease, polydactyly (toe), cleft lip, congenital hydrocephalus and clubfoot rank among the top five in birth defects. Chromosomal microdeletions and microduplications are related to these diseases. Prenatal diagnosis is the main mean to prevent birth defects, which is to use advanced technology to diagnose fetal congenital diseases before birth. Research has shown that copy number variation sequencing (CNV-seq) can diagnose prenatal chromosomal microdeletions and microduplications. It increased the detection rate of chromosomal abnormalities to 2.8%. CNV-seq is a whole genome sequencing technology developed based on high-throughput sequencing. It has a wide range of detection and high resolution, it covers genome-wide microdeletion and microduplication abnormalities. It has been gradually applied to the detection of fetal congenital diseases and abortion tissues. It can also be used to identify chromosomal abnormalities of unknown origin. The paper reviews the research progress of CNV-seq in prenatal diagnosis.

Key words: Copy number variation sequencing, Prenatal diagnosis, Chromosome deletion, Chromosome duplication, DNA copy number variations

LI Feng-jin, YAO Xin-yu, ZHANG Yu-ping. Research Progress of Copy Number Variation Sequencing in Prenatal Diagnosis[J]. Journal of International Obstetrics and Gynecology, 2021, 48(1): 75-78.

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