Choi Tae Yeong, Lee Hye Min, Park Won Kyoung, Jeong So Yeong, Moon Hwa Sook
Genetics Laboratory, Good Moonhwa Hospital, Busan, Korea.
Department of Laboratory Medicine, Good Moonhwa Hospital, Busan, Korea.
Obstet Gynecol Sci. 2014 Nov;57(6):518-25. doi: 10.5468/ogs.2014.57.6.518. Epub 2014 Nov 20.
The purpose of this study was to determine the frequency and distribution of cytogenetically abnormal miscarriages in couples with spontaneous abortions (SA) or recurrent miscarriages (RM).
Karyotyping of specimens from 164 abortuses with SA and 86 abortuses with RM was successfully performed according to the standard cytogenetic methods using G-banding technique.
Among the total 164 cases of SA group, 81 (49.4%) were euploid and the rest (83, 50.6%) showed chromosomal abnormalities. In RM(≥2) and RM(≥3) group, 31 (36.0%)/27 (34.6%) cases were euploid and 55 (64.0%)/51(65.4%) cases were abnormal, respectively. A statistically significant difference was found in the rate of cytogenetic abnormality between SA and RM groups (P<0.05). In all groups, women with advanced maternal age (≥35 years) had a higher rate of chromosome anomalies compared with women younger than age 35 (normal:abnormal = 32.4%:67.6% for ≥35 years and 53.8%:46.2% for <35 years in SA; 19.2%:80.8%/21.7%:78.3% for ≥35 years and 43.3%:56.7%/40.0%:60.0% for <35 years in RM(≥2) and RM(≥3), respectively; P<0.05). In SA group, an increase of normal karyotypes was noted with increased gestational age (<10 week, 38.0%; 10-15 week, 53.5%; 16-20 week, 65.7%). In RM group, most of cases were in <10 week and the frequency of trisomies with chromosomes 1 to 10 were increased compared with that of SA.
There was a statistically significant difference in the frequency and distribution of chromosomal abnormalities between SA and RM groups. Our results will provide useful information for diagnosis and genetic counseling of patients with SA or RM.
本研究旨在确定自然流产(SA)或复发性流产(RM)夫妇中细胞遗传学异常流产的频率和分布情况。
采用G显带技术,按照标准细胞遗传学方法成功对164例SA流产标本和86例RM流产标本进行了核型分析。
在SA组的164例病例中,81例(49.4%)为整倍体,其余83例(50.6%)显示染色体异常。在RM(≥2)组和RM(≥3)组中,分别有31例(36.0%)/27例(34.6%)为整倍体,55例(64.0%)/51例(65.4%)为异常。SA组和RM组之间细胞遗传学异常率存在统计学显著差异(P<0.05)。在所有组中,高龄产妇(≥35岁)的染色体异常率高于35岁以下的女性(SA组中,≥35岁正常:异常 = 32.4%:67.6%,<35岁为53.8%:46.2%;RM(≥2)组和RM(≥3)组中,≥35岁为19.2%:80.8%/21.7%:78.3%,<35岁为43.3%:56.7%/40.0%:60.0%;P<0.05)。在SA组中,随着孕周增加,正常核型数量增加(<10周,38.0%;10 - 15周,53.5%;16 - 20周,65.7%)。在RM组中,大多数病例在<10周,与SA组相比,1至10号染色体三体的频率增加。
SA组和RM组之间染色体异常的频率和分布存在统计学显著差异。我们的结果将为SA或RM患者的诊断和遗传咨询提供有用信息。