Clinical Laboratory, First Medical Center of Chinese PLA General Hospital, Beijing, China.
Department of Obstetrics and Gynecology, First Medical Center of Chinese PLA General Hospital, Beijing, China.
Curr Top Med Chem. 2021 Oct 5;21(14):1301-1306. doi: 10.2174/1568026621666210714160232.
Chromosomal abnormalities are one of the genetic disorders caused by abnormal chromosome number or structure and can endanger multiple organs, morphology and function of the systems in the human body. This study aims to investigate the relationship between prenatal diagnosis indications and abnormal karyotypes to improve prenatal screening.
The karyotype analyses were carried out on 4646 pregnant women with prenatal diagnosis indications referred to the first medical center of Chinese PLA General Hospital from 2012 to 2019. The incidence, distribution, and statistical features of chromosomal abnormality of different prenatal diagnosis indications were analyzed, and the relationships with the prenatal diagnosis indications were assessed.
A total of 351 fetal chromosomal abnormalities were detected in 4646 karyotypes, with an incidence of 7.6%. The chromosomal abnormality incidence in the single indication group, two indications group, and three indications group was 5.8%, 16.1%, and 70.0%, respectively, indicating a statistically significant difference (p < 0.05). Advanced maternal age (AMA), high-risk maternal serum screening (MSS), and non-invasive prenatal DNA testing (NIPT) were the important indications for predicting abnormal karyotype. The number of prenatal diagnosis indications was highly correlated with fetal chromosomal abnormalities. The overall incidence of chromosomal abnormalities showed a tendency to increase with age. The incidence of Trisomy 21 was 3.2%, accounting for 42.5% of all chromosomal abnormalities, and the incidence tended to increase with maternal age.
Prenatal karyotype analysis of pregnant women with prenatal diagnosis indications can effectively prevent the birth of defective children. AMA, MSS and NIPT were the important indications for predicting abnormal karyotype. In addition, the number of prenatal diagnosis indications is highly correlated with chromosomal abnormalities.
染色体异常是由染色体数目或结构异常引起的遗传疾病之一，可危及人体多个器官、系统的形态和功能。本研究旨在探讨产前诊断指征与异常核型的关系，以提高产前筛查效果。
对 2012 年至 2019 年期间在中国人民解放军总医院第一医学中心就诊的 4646 例具有产前诊断指征的孕妇进行染色体核型分析。分析不同产前诊断指征的染色体异常发生率、分布及统计学特征，并评估其与产前诊断指征的关系。
在 4646 例核型中检出 351 例胎儿染色体异常，发生率为 7.6%。单项指征组、两项指征组和三项及以上指征组的染色体异常发生率分别为 5.8%、16.1%和 70.0%，差异有统计学意义（p<0.05）。高龄孕妇（AMA）、高危孕妇血清学筛查（MSS）和无创产前 DNA 检测（NIPT）是预测异常核型的重要指征。产前诊断指征数量与胎儿染色体异常高度相关。染色体异常的总发生率随年龄增长呈上升趋势。21 三体的发生率为 3.2%，占所有染色体异常的 42.5%，且随孕妇年龄增长呈上升趋势。
对有产前诊断指征的孕妇进行产前核型分析，可有效预防缺陷儿的出生。AMA、MSS 和 NIPT 是预测异常核型的重要指征。此外，产前诊断指征的数量与染色体异常高度相关。
