Abstract
In this study, we aimed to compare the efficiency of non-invasive prenatal testing (NIPT), karyotyping, and chromosomal micro-array (CMA) for the diagnosis of fetal chromosomal anomalies in the second and third trimesters. Pregnant women, who underwent amniocenteses for prenatal genetic diagnoses during their middle and late trimesters, were recruited at the Prenatal Diagnosis Center of Taizhou City. Maternal blood was separated for NIPT, and amniotic fluid cells were cultured for karyotyping and CMA. The diagnostic efficiency of NIPT for detecting fetal imbalanced anomalies was compared with karyotyping and CMA. A total of 69 fetal chromosomal imbalances were confirmed by CMA, 37 were diagnosed by NIPT and 35 were found by karyotyping. The sensitivities of NIPT and karyotyping for diagnosing aneuploidy were 96.3% and 100% respectively. Only one mosaic sexual chromosome monosomy was misdiagnosed by NIPT, whereas the sensitivity of NIPT and karyotyping was 70% and 30%, respectively, for detecting pathogenic deletions and duplications sized from 5–20 Mb. Taken together, our results suggest that the efficiency of NIPT was similar to the formula karyotyping for detecting chromosome imbalance in the second and third trimesters.
Highlights
The prevalence of chromosomal anomalies declines following development of the fetus
Between January 2016 and July 2017, 829 of 1053 pregnant women with indications for chromosomal micro-array (CMA) undergoing invasive procedures were accepted for the trial
813 women were accepted both for the invasive procedures and non-invasive prenatal testing (NIPT) testing
Summary
The prevalence of chromosomal anomalies declines following development of the fetus. Initially, the incidence of aneuploidy in the human embryo is more than double in women with a mean age of 38 years (Kuliev et al, 2005; Gianaroli et al, 2010). The incidence of submicroscopic chromosomal anomalies even exceeded aneuploidy in the fetuses with ultrasonically detected abnormalities at the third trimester (American College of Obstetricians and Gynecologists Committee on Genetics, 2013). CMA has a significantly shorter laboratory turnaround time and lower failure rate, which is critical for patients with indications of anomalies in ultrasound results (Petersen et al, 2017). As for those women with abnormal serum screening results and advanced maternal age, complete replacement of the traditional karyotyping method by CMA is controversial (Hay et al, 2018), considering both the financial burden as well as the difficulty in detecting balanced structural abnormalities and mosaics
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