2871例高龄孕妇的产前诊断结果分析

Analysis on Prenatal Diagnosis Results of 2 871 Elderly Pregnant Women

目的探讨高龄孕妇进行产前诊断的意义。方法收集接受介入性产前诊断筛查胎儿染色体异常的高龄孕妇2 871例,对比不同年龄(35～39岁和≥40岁)孕妇的胎儿染色体异常类型及胎儿染色体微阵列分析结果。结果≥40岁组孕妇的胎儿染色体总异常率、常染色体非整倍体比例、性染色体异常率明显高于35～39岁组(P <0.05)。高龄孕妇中同时行胎儿染色体微阵列分析者803例,其中35～39岁孕妇561例,≥40岁孕妇242例,≥40岁组孕妇的胎儿总异常量比例、常染色体异常率、性染色体异常率均明显高于35～39岁组(P <0.05)。结论高龄夫妇生育二胎意愿的比例增加,做好孕前遗传咨询及生育指导,使其了解高龄妊娠与胎儿染色体异常的关系,从而有利于高龄孕妇积极配合进行产前诊断,以降低染色体异常儿出生的风险。

Objective To explore the significance of prenatal diagnosis in elderly pregnant women. Methods 2 871 elderly pregnant women with abnormal fetal chromosomes were screened by interventional prenatal diagnosis, and the distribution of abnormal types of chromosomes and the results of fetal chromosome microarray analysis at different ages （35 - 39 years old and ≥40 years old） were compared. Results The chromosome abnormality rate, autosomal aneuploidy proportion and sex chromosome abnormality rate in the ≥40 years old group were significantly higher than those in the 35 - 39 years old group （P〈0.05）. There were 803 cases of fetal chromosomal microarray at the same time, including 561 pregnant women aged 35 - 39 and 242 pregnant women aged 40 or above; The total abnormal volume proportion, autosomal abnormalities rate and sex chromosomal abnormality rate of the ≥ 40 years old group were significantly higher than those of the 35 - 39 years old group （P〈0.05）. Conclusions The proportion of children＇s childbearing wishes increases, genetic counseling and reproductive guidance before pregnancy can be done to understand the relationship between pregnancy and fetal chromosomal abnormalities, which will help the elderly pregnant women to actively cooperate with prenatal diagnosis in order to reduce the risk of abnormal birth of chromosomes.