Application value of NIPT for uncommon fetal chromosomal abnormalities
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RESEARCH
Application value of NIPT for uncommon fetal chromosomal abnormalities Lianli Yin1, Yinghua Tang2* , Qing Lu3, Aiping Pan2 and Mingfang Shi1
Abstract Objective: To investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities. Methods: The study included 6239 pregnant women with singletons in the first and second trimester of pregnancy who received NIPT from December 2017 to June 2019. For pregnant women at high risk of deletion, duplication, and sex chromosome abnormalities indicated by NIPT, amniocentesis was recommended for karyotype analysis and chromosome copy number variation detection to verify the NIPT results and analyze chromosome abnormalities. Women at low risk and with no other abnormal results continued with their pregnancies. Results: Among the 6239 pregnant women who received NIPT, there were 15 cases of chromosomal deletion (12 cases confirmed by amniocentesis), 16 cases of chromosomal duplication (9 cases confirmed by amniocentesis), and 17 cases of sex chromosome abnormalities (11 cases confirmed by amniocentesis). Of these cases, 32 were finally confirmed by amniotic fluid cell karyotype analysis. The coincidence rate was 66.7% (32/48). There were no abnormalities found for the remaining low risk pregnant women during follow-up. Conclusion: NIPT has good application value in predicting fetal chromosomal deletion, duplication, and sex chromosome abnormalities. It can improve the detection rate of fetal chromosomal abnormalities, but further prenatal diagnosis is needed. Keywords: Noninvasive prenatal testing, Birth defects, Chromosomal abnormalities Introduction Fetal chromosomal abnormalities comprise one of the most important causes of birth defects. Approximately 5 million babies are born with birth defects each year worldwide, and 70% of major birth defects are caused by genetic factors. Chromosomal abnormalities and gene mutations are the main causes of genetic disorders [1]. Of all fetal chromosomal abnormalities, most are chromosomal aneuploidy abnormalities [2–4]. At present, there is no effective method of treatment for chromosomal *Correspondence: [email protected] 2 Department of Clinical Laboratory, Guangxi Hospital of Traditional Chinese Medicine, The First Affiliated Hospital of Guangxi University of Chinese Medicine, No. 89‑9 Dongge Road, Nanning 530023, Guangxi, China Full list of author information is available at the end of the article
disorders. Prenatal screening is used to identify high risk pregnant women and carry out prenatal diagnosis, early detection, and termination of pregnancy to prevent the birth of children with defects caused by chromosomal abnormalities. Traditional serological prenatal screening methods are mainly aimed at disorders such as trisomy 21, trisomy 18, and trisomy 13, although they cannot be used to screen for other fetal chromosomal abnormalities, which often results in misdiagnosis. However, the detection of fetal birth defects has grad
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