Soler Anna, Morales Carme, Mademont-Soler Irene, Margarit Ester, Borrell Antoni, Borobio Virginia, Muñoz Miriam, Sánchez Aurora
Servei de Bioquímica i Genètica Molecular, Barcelona, Spain.
Cytogenet Genome Res. 2017;152(2):81-89. doi: 10.1159/000477707. Epub 2017 Jun 30.
In order to contribute to the knowledge of type and frequency of chromosome abnormalities in early pregnancy losses, we analyzed the cytogenetic results from a large series of first trimester miscarriages, using a diagnostic approach with a high success rate and no maternal contamination. A total of 1,119 consecutive chorionic villi samples were obtained before evacuation, and karyotypes were prepared after short-term culture (STC). In 603 samples, a long-term culture (LTC) was also performed. The overall and individual frequencies of the different types of chromosome abnormalities were established, including placental mosaicisms, and their relationship with maternal age and gestational weeks was assessed. An abnormal karyotype was detected in 70.3% of the samples. Single autosomal trisomy was the most frequent abnormality (64.6% of the abnormal cases), followed by triploidy (13.1%) and monosomy X (10.4%). Chromosome rearrangements were found in 5.2%, combined abnormalities in 8.9%, and placental mosaicism in 3.5% of the cases with STC and LTC performed. Individual trisomies behaved differently with respect to maternal age and intrauterine survival. Due to the combination of STC and LTC, our study offers reliable information on the incidence and type of chromosome abnormalities and placental mosaicism in miscarriages and contributes to define the cytogenetic implication in their etiology.
为了增进对早期妊娠丢失中染色体异常类型和频率的了解，我们分析了一系列孕早期流产的细胞遗传学结果，采用了成功率高且无母体污染的诊断方法。在清宫术前共获取了1119例连续的绒毛样本，并在短期培养（STC）后制备核型。在603例样本中，还进行了长期培养（LTC）。确定了不同类型染色体异常的总体和个体频率，包括胎盘嵌合体，并评估了它们与母亲年龄和孕周的关系。在70.3%的样本中检测到异常核型。单个常染色体三体是最常见的异常（占异常病例的64.6%），其次是三倍体（13.1%）和X单体（10.4%）。在进行了STC和LTC的病例中，5.2%发现了染色体重排，8.9%为复合异常，3.5%为胎盘嵌合体。不同的三体在母亲年龄和宫内存活方面表现不同。由于STC和LTC的结合，我们的研究提供了关于流产中染色体异常和胎盘嵌合体的发生率及类型的可靠信息，并有助于确定其病因中的细胞遗传学意义。
