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泰国流产和宫内存活孕妇早孕期胎儿染色体异常的发生率和类型。

Incidence and Types of Fetal Chromosomal Abnormalities in First Trimester of Thai Pregnant Women between Miscarriages and Intrauterine Survivals.

机构信息

Human Genetic Laboratory, Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

出版信息

Cytogenet Genome Res. 2022;162(7):345-353. doi: 10.1159/000527977. Epub 2023 Mar 1.

Abstract

Abortion is a common pregnancy complication. Fetuses with several types of chromosomal abnormalities are aborted during the first trimester, while others have a better chance of surviving. This research aims to study and compare the incidence and types of fetal chromosomal abnormalities during the first trimester of Thai pregnant women between miscarriages and intrauterine survivals. Cytogenetic and BACs-on-Beads™ assays were assessed from 2010 to 2020 in Ramathibodi Hospital using first trimester samples of 265 chorionic villi as a retrospective study. Chromosomal abnormalities were observed in 135 cases (50.94%) including 38.11% miscarriages and 12.83% intrauterine survivals. In total, 75.56% single autosomal trisomies, 18.52% sex chromosome aneuploidies, 5.19% double aneuploidies, and 0.74% structural abnormalities were detected. In miscarriages, all chromosomes were involved in abnormalities except chromosomes 1, 5, 8, 9, 11, and 17, while survivals had only trisomy 13, 18, 21, and sex chromosome aneuploidy. Trisomy 16 and 18 were the most common abnormalities in miscarriages and intrauterine survivals, respectively. The highest rate of chromosomal aberrations was demonstrated in 8-9+6 and 12-13+6 weeks of gestation in miscarriages and intrauterine survivals, respectively. Correlation between chromosomal abnormalities and maternal age <35 years and ≥35 years was significant (p < 0.05) in intrauterine survival and first trimester groups.

摘要

流产是一种常见的妊娠并发症。在妊娠早期,有几种类型的染色体异常的胎儿被流产,而其他胎儿则有更好的生存机会。本研究旨在研究和比较泰国孕妇流产和宫内存活的妊娠早期胎儿染色体异常的发生率和类型。从 2010 年至 2020 年,Ramathibodi 医院使用 265 例绒毛膜绒毛的妊娠早期样本进行回顾性研究,通过细胞遗传学和 BACs-on-Beads™检测评估染色体异常。在 135 例(50.94%)中观察到染色体异常,包括 38.11%的流产和 12.83%的宫内存活。总共有 75.56%的单条常染色体三体,18.52%的性染色体非整倍体,5.19%的双非整倍体和 0.74%的结构异常。在流产中,除了染色体 1、5、8、9、11 和 17 外,所有染色体都参与了异常,而存活者只有三体 13、18、21 和性染色体非整倍体。三体 16 和 18 分别是流产和宫内存活中最常见的异常。在流产和宫内存活中,8-9+6 和 12-13+6 周的妊娠中染色体异常的发生率最高。在宫内存活和妊娠早期组中,染色体异常与母亲年龄<35 岁和≥35 岁之间存在显著相关性(p<0.05)。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/67fa/10273899/88c852791962/cgr-0162-0345-g01.jpg

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