关键词: Anembryonic pregnancy Chromosomal abnormality Maternal age Product of conception

Mesh : Humans Female Pregnancy Retrospective Studies Adult Chromosome Aberrations Thailand / epidemiology Chromosome Disorders / diagnosis genetics Trisomy / diagnosis genetics Young Adult

来  源:   DOI:10.1016/j.ejogrb.2024.04.041

Abstract:
OBJECTIVE: This study evaluated the BACs-on-Beads™ (BoBs) efficiency assay in detecting chromosomal anomalies in products of conception (POC) specimens associated with anembryonic pregnancy (AP) among Thai pregnant women.
METHODS: Retrospective analysis applied the BoBs™ assay to examine AP samples from 2010 to 2022. The incidences of AP with chromosomal abnormalities were reported.
RESULTS: Assessment of villi from anembryonic pregnancy samples found normal chromosome complement in 50% of the cases, while the remainder showed chromosomal abnormalities. Trisomy 16 was found in 15% of the cases and trisomies 22, 15, and 19 in 9.6%, 3.8%, and 3.8%, respectively. Advanced maternal age was associated with a higher incidence of aneuploidy.
CONCLUSIONS: The BoBs™ assay effectively detected diverse chromosomal abnormalities in villi samples from POC. The diagnostic utility of the BoBs™ assay was highlighted in identifying chromosomal irregularities in AP cases. Trisomy 16 possessed the most chromosomal abnormalities in the AP samples.
摘要:
目的:这项研究评估了BACs-on-Beads™(BoBs)效率测定在泰国孕妇中检测与胚胎妊娠(AP)相关的受孕产物(POC)标本中的染色体异常。
方法:回顾性分析应用了BoBs™测定法来检查2010年至2022年的AP样品。报告了AP染色体异常的发生率。
结果:从胚胎妊娠样本中对绒毛进行评估,发现50%的病例染色体补体正常,而其余则显示染色体异常。在15%的病例中发现了三体16,在9.6%的病例中发现了三体22、15和19,3.8%,和3.8%,分别。高龄产妇与非整倍体的发生率较高有关。
结论:BoBs™检测有效地检测了来自POC的绒毛样品中的多种染色体异常。在鉴定AP病例中的染色体不规则性方面强调了BoBs™测定的诊断效用。在AP样品中,三体性16具有最多的染色体异常。
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