Abstract
ObjectiveTo investigate the clinical value of noninvasive prenatal testing (NIPT) for fetal chromosomal deletion, duplication, and sex chromosome abnormalities.MethodsThe 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.ResultsAmong 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.ConclusionNIPT 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.
Highlights
Fetal chromosomal abnormalities comprise one of the most important causes of birth defects
Chromosomal deletion Among the 6239 pregnant women who received noninvasive prenatal testing (NIPT), a total of 15 cases of chromosomal deletions of different fragment sizes were detected, 12 of which were confirmed by amniocentesis (Table 2)
Among the 12 confirmed cases, the results of 10 copy number variation (CNV) detections were almost consistent with the results of the NIPT; the size of 1 deletion was slightly different from that determined by the NIPT
Summary
Fetal chromosomal abnormalities comprise one of the most important causes of birth defects. Chromosomal abnormalities and gene mutations are the main causes of genetic disorders [1]. Of all fetal chromosomal abnormalities, most are chromosomal aneuploidy abnormalities [2,3,4]. (NIPT) has been welcomed by pregnant women and clinicians for fetal chromosomal aneuploidy screening due to its high detection rate, low false positive rate, and noninvasiveness [8, 9]. A large portion of the literature has focused on the study of common chromosomal aneuploidy and has rarely reported on other chromosomal abnormalities [10]. The present study aimed to explore the clinical application value of NIPT in the detection of fetal chromosomal abnormalities other than chromosomal aneuploidy
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