AUTHOR=Jing Xiaosha , Liu Hongqian , Zhu Qian , Liu Sha , Liu Jianlong , Bai Ting , Deng Cechuan , Xia Tianyu , Liu Yunyun , Cheng Jing , Wei Xiang , Xing Lingling , Luo Yuan , Zhou Quanfang , Chen Lin , Li Lingping , Wang Jiamin 

TITLE=Clinical Selection of Prenatal Diagnostic Techniques Following Positive Noninvasive Prenatal Screening Results in Southwest China

JOURNAL=Frontiers in Genetics

VOLUME=12

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.811414

DOI=10.3389/fgene.2021.811414

ISSN=1664-8021

ABSTRACT=<p><bold>Background:</bold> This study aims to evaluate prenatal diagnosis methods following positive noninvasive prenatal screening (NIPS) results.</p><p><bold>Methods:</bold> According to the positive noninvasive prenatal screening results, 926 pregnant women were divided into three groups: main target disease group (high risk for trisomy 21, trisomy 18, or trisomy 13), sex chromosome aneuploidy (SCA) group, and other chromosomal abnormalities group [abnormal Z-scores for chromosomes other than trisomy (T)21/T18/T13 or SCAs]. The verification methods and results were then retrospectively analysed.</p><p><bold>Results:</bold> In the main target disease group, the positive rate of chromosomal abnormalities confirmed by quantitative fluorescence polymerase chain reaction (QF-PCR) was 75.18% (212/282), which was not significantly different from that by karyotyping (79.36%, 173/218) and copy number variation (CNV) detection methods (71.43%, 65/91). The positive rate of additional findings confirmed by karyotyping and copy number variation detection methods in main target disease group was 0.46% (1/218) and 8.79% (8/91), respectively. The positive rate of chromosomal abnormalities confirmed by karyotyping and CNV detection methods were 27.11% (45/166) and 38.46% (95/247) in the SCA group and 4.17% (1/24) and 20% (36/180) in the other chromosomal abnormalities group, respectively. Fetal sex chromosome mosaicism was detected in 16.13% (20/124) of the confirmed SCA cases. There were no significant differences in the detection rates of chromosomal microarray analysis (CMA) and CNV sequencing (CNVseq) among the three groups (<italic>p</italic> &gt; 0.05).</p><p><bold>Conclusion:</bold> QF-PCR can quickly and accurately identify aneuploidies following NIPS-positive results for common aneuploidy, and in combination with karyotyping and CNV detection techniques can provide more comprehensive results. With the NIPS-positive results for SCA or other abnormalities, CMA and CNVseq may have the same effect on increasing the detection rate. The addition of fluorescence <italic>in situ</italic> hybridization assay may help to identify true fetal mosaicism.</p>