Kwinecka-Dmitriew Barbara, Zakrzewska Monika, Latos-Bieleńska Anna, Skrzypczak Jana
Klinika Rozrodczości Uniwersytetu Medycznego w Poznaniu.
Ginekol Pol. 2010 Dec;81(12):896-901.
Examination of fetal tissue from spontaneous miscarriages shows that 50-70% of them were caused by abnormal karyotype. The most frequent genetic abnormalities include abnormal number of chromosomes, aberration of chromosomes structure and chromosome mosaic anomalies.
The aim of the study was to find out whether there is any difference in the frequency of chromosomal aberrations in patients who miscarried for the first time comparing to patients with recurrent miscarriages.
Examination was performed on 129 miscarriage material samples from 128 women. Fluorescent hybridization in-situ (FISH) was used for genetic examination.
We received 120 results in which 45 (37,5%) were abnormal. The most frequent chromosomal aberration was trisomy followed by triploidy and monosomy of chromosome X. Among 59 samples from first miscarriage we found 25 abnormal karyotypes. In the 61 samples from the second, third and the next miscarriages we found 20 chromosomal abnormalities.
Frequency of chromosomal aberrations in the tissue from the first miscarriage is significantly higher than in samples from second or following miscarriages, which means that genetic factors are less likely to induce recurrent miscarriages. Genetic results confirm that most chromosomal abnormalities arise de-novo.
对自然流产的胎儿组织检查表明,其中50 - 70%是由染色体核型异常引起的。最常见的遗传异常包括染色体数目异常、染色体结构畸变和染色体嵌合异常。
本研究的目的是找出首次流产患者与复发性流产患者染色体畸变频率是否存在差异。
对128名女性的129份流产材料样本进行检查。采用荧光原位杂交(FISH)进行基因检测。
我们得到了120份结果,其中45份(37.5%)异常。最常见的染色体畸变是三体,其次是三倍体和X染色体单体。在首次流产的59份样本中,我们发现25例染色体核型异常。在第二次、第三次及后续流产的61份样本中,我们发现20例染色体异常。
首次流产组织中的染色体畸变频率显著高于第二次或后续流产的样本,这意味着遗传因素诱发复发性流产的可能性较小。基因检测结果证实,大多数染色体异常是新发的。