Original Article
Analysis of prenatal diagnosis of 728 advanced maternal age women
Jin Qiujie, Zhai Wen, Cai Bo, Wang Xiaobin, Cai Na, Wu Qiuhua, Qiang Rong
Published 2021-10-15
Cite as Int J Genet, 2021, 44(5): 314-320. DOI: 10.3760/cma.j.cn231536-20210303-00031
Abstract
ObjectiveTo investigate the types and rates of fetal chromosomal abnormalities in advanced maternal age women of different ages and different clinical indications, and to provide theoretical help for the selection of fetal chromosomal detection methods and genetic counseling in advanced maternal age women.
MethodsA total of 728 advanced maternal age women were selected from the Medical Genetics Center of Northwest Women and Children’s Hospital, who underwent karyotype analysis and array-based comparative genomic hybridization(aCGH)detection.Pregnant women were divided into groups according to age and clinical indications, and the types and proportions of chromosome abnormalities in each group were analyzed.
ResultsA total of 728 elderly pregnant women were included in this study, among which 62 cases (62/728, 8.5%)carried abnormal chromosomal aneuploidy and 81 cases(81/728, 11.1%)carried chromosomal copy number variation(CNVs). We added 728 non-elderly pregnant women as control.Then pregnant women were grouped by age, and the chromosome abnormality rate of different age pregnant women was analyzed.The fetal abnormal chromosome aneuploidy rate of aged<35 age group, age 35 to 39 years old group, age ≥ 40 age group, are 6.5%, 7.5% and 10.8% respectively, which increased with the age of pregnant women, but there was no statistically significant(P=0.150). However, the detection rate of CNVs did not change regularly among different age groups.The rate of fetal chromosomal abnormality was significantly different among theadvanced maternal age women with different clinical indications(P<0.001). The detection rate of fetal chromosomal abnormality was the highest in the advanced maternal age women with abnormal NIPT results(44.2%), followed by the advanced maternal age women with abnormal ultrasound(23.8%), the abnormal rate in the advanced maternal age women with adverse pregnancy history was 14.6%, and the incidence of fetal chromosomal abnormality was the lowest in the simple advanced maternal age women(10.6%). In addition, the chromosomal abnormalities detected in advanced maternal age women with adverse pregnancy history were all CNVs.
ConclusionThe incidence of fetal chromosomal aneuploidy increased with the age of pregnant women, and the incidence of CNVs was not related to the age of pregnant women.The chromosomal abnormality rate of the advanced maternal age women with other clinical indications was significantly higher than that of the advanced maternal age women alone.In addition, this study shows that aCGH technology can greatly improve the detection rate of fetal chromosomal abnormality in the advanced maternal age women.
Key words:
Advanced maternal age women; Prenatal disgnosis; Fetal chromosomal abnormalities; aCGH
Contributor Information
Jin Qiujie
Center of Medical Genetics, Northwest Women’s and Children’s Hospital, Xi’an 710061, China
Zhai Wen
Center of Medical Genetics, Northwest Women’s and Children’s Hospital, Xi’an 710061, China
Cai Bo
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
Cai Na
Center of Medical Genetics, Northwest Women’s and Children’s Hospital, Xi’an 710061, China
Wu Qiuhua
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
