Original Article
Evaluation of the efficacy of extended non-invasive prenatal screening technology in advanced age pregnant women
Wang Rui, Yang Lihui, Liu Yuan, Wang Xiaobin, Qiang Rong, Shi Fengrui
Published 2023-06-15
Cite as Int J Genet, 2023, 46(3): 191-198. DOI: 10.3760/cma.j.cn231536-20230328-00026-1
Abstract
ObjectiveTo investigate the clinical screening efficacy of extended non-invasive prenatal screening (NIPT-plus) in elderly pregnant women.
MethodsA retrospective analysis of 1 435 elderly pregnant women (≥35 years) receiving NIPT-plus at Northwest Women’s and Children’s Hospital from October 2021 to July 2022.Analyze the NIPT-plus results and simultaneously classifying the detected fetal chromosomal abnormalities. We also calculate the proportion of chromosomal abnormalities. The results were verified by amniotic fluid cell chromosomecopy number variation sequencing(CNV-seq). The positive rate, sensitivity, specificity, positive predictive value, negative predictive value of the test data compared with the NIPT-plus results. Telephone follow-up for pregnancy outcomes.
Results1 435 elderly pregnant women with high risk included autosomal trisomy and sex chromosome aneuploidy (sex chromosome aneuploidies, SCAs), microdeletion/microduplication syndrome(MMS), additional chromosome copy number variations (copy number variations, CNVs) were 2.9% (41 / 1 435). Among 41 cases with high risk of NIPT-plus, 8 cases refused invasive prenatal diagnosis; There were 16 cases with prenatal diagnosis results consistent with NIPT-plus results and 17 inconsistent cases, of which 14 cases had no detectable NIPT-plus screen-detected positive results and 3 cases detected other chromosomal CNVs that differed from the positive results detected by the NIPT-plus screen. The positive predictive value of NIPT-plus for fetal 21-trisomy, 18-trisomy, sex chromosome abnormalities, the additional CNVs was 100%, 100%, 66.67%, 40% respectively.
ConclusionThis study obtained PPV data and pregnancy outcome follow-up of chromosome aneuploidy, MMS and additional CNVs for NIPT-plus in elderly pregnant women screening; When NIPT-plus screening suggests suspicious chromosome abnormalities, further invasive prenatal diagnosis is required to provide a reliable basis for clinical genetic consultation and dealing with the results of NIPT-plus screening in elderly pregnant women. NIPT-plus screening should be carried clinically out and popularized. It is necessary for elderly pregnant women to implement the mode of NIPT-plus screening before invasive prenatal diagnosis.
Key words:
Prenatal screening; Extended noninvasive prenatal screening; Elderly pregnant women
Contributor Information
Wang Rui
Center of Medical Genetics, Northwest Women’s and Children’s Hospital, Xi’an 710061, China
Yang Lihui
Center of Medical Genetics, Northwest Women’s and Children’s Hospital, Xi’an 710061, China
Liu Yuan
Center of Medical Genetics, Northwest Women’s and Children’s Hospital, Xi’an 710061, China
Wang Xiaobin
Center of Medical Genetics, Northwest Women’s and Children’s Hospital, Xi’an 710061, China
Qiang Rong
Center of Medical Genetics, Northwest Women’s and Children’s Hospital, Xi’an 710061, China
Shi Fengrui
Center of Medical Genetics, Northwest Women’s and Children’s Hospital, Xi’an 710061, China
