怀孕前三个月产物的数量和结构染色体异常

IF 2.1 4区医学 Q2 OBSTETRICS & GYNECOLOGY

European journal of obstetrics, gynecology, and reproductive biology Pub Date : 2025-04-26 DOI:10.1016/j.ejogrb.2025.114005

Christina Katsidi , Haroula Tsarouha , Elisavet Kouvidi , Leandros Lazaros , Konstantinos Pantos , Konstantinos Sfakianoudis , Amelia Pantou , Emmanuel Kanavakis , Ariadni Mavrou , Periklis Makrythanasis

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引用次数: 0

摘要

目的：多重或复杂染色体异常罕见，与高龄产妇和妊娠早期自然流产有关。本研究调查的频率复杂的染色体异常的产品在怀孕的前三个月的概念。研究设计采用常规细胞遗传学或分子技术对473例妊娠早期流产组织样本进行分析。产妇平均年龄为39岁（23-55岁）。使用标准GTG条带法对每个样本进行至少10个中期分析。结果351例胎源培养标本中，339例（97%）可诊断。核型异常216例（64%），正常123例（36%）。非复杂染色体异常192例（89%），其中16号三体最常见，复杂染色体异常24例（11%）。多倍体和单体45，X各占8%。结构重排和镶嵌现象分别占2%和3%。单染色体异常与复合染色体异常的妊娠周呈正相关（p = 0.04136）。结论复杂染色体异常胚胎在高龄妇女（39岁）中更为常见，且比非复杂染色体异常胚胎早1周流产。此外，我们已经确定了更高数量的复杂染色体异常（11%比5 - 7%的文献）。在复杂的染色体异常中，双三体是最常见的发现，最常见的染色体是21、X和15。

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Numerical and structural chromosomal anomalies in first trimester products of conception

Objective

Multiple or complex chromosomal abnormalities are rare and are correlated with advanced maternal age and spontaneous abortion early in pregnancy. This study investigates the frequency of complex chromosomal abnormalities in products of conception in the first trimester of pregnancy.

Study design

473 samples from first trimester aborted tissues were analyzed with conventional cytogenetic or molecular techniques. The average maternal age was 39 years (range 23–55). From each sample at least ten metaphases were analyzed using standard GTG banding.

Results

From 351 fetal origin cultured samples diagnosis was possible at 339 (97 %). Abnormal karyotypes were detected in 216 embryos (64 %) and a normal karyotype was detected in 123 (36 %). Non-complex chromosomal abnormalities were detected in 192 cases (89 %) with single trisomy 16 being the most frequent and complex abnormalities were identified in 24 cases (11 %). Polyploidies and monosomy 45,X occurred in 8 % each. Structural rearrangements and mosaicism were detected in 2 % and 3 %, respectively. Statistical analysis showed association between the week of gestation of single and complex chromosomal abnormalities (p = 0.04136).

Conclusions

Our results confirm that embryos with complex chromosomal abnormalities were more frequent among older women (>39 years old) and were aborted one week earlier than embryos with non-complex chromosomal abnormalities. Additionally, we have identified a higher number of complex chromosomal abnormalities (11 % vs 5–7 % in literature). Among complex chromosomal abnormalities, double trisomy was the most common finding, and the most frequent chromosomes involved were 21, X, and 15.

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来源期刊

European journal of obstetrics, gynecology, and reproductive biology 医学-妇产科学

CiteScore

4.60

自引率

3.80%

发文量

898

审稿时长

8.3 weeks

期刊介绍： The European Journal of Obstetrics & Gynecology and Reproductive Biology is the leading general clinical journal covering the continent. It publishes peer reviewed original research articles, as well as a wide range of news, book reviews, biographical, historical and educational articles and a lively correspondence section. Fields covered include obstetrics, prenatal diagnosis, maternal-fetal medicine, perinatology, general gynecology, gynecologic oncology, uro-gynecology, reproductive medicine, infertility, reproductive endocrinology, sexual medicine and reproductive ethics. The European Journal of Obstetrics & Gynecology and Reproductive Biology provides a forum for scientific and clinical professional communication in obstetrics and gynecology throughout Europe and the world.