Yakut Sezin, Toru Havva Serap, Çetin Zafer, Özel Deniz, Şimşek Mehmet, Mendilcioğlu İnanç, Lüleci Güven
Department of Medical Biology and Genetics, SANKO University, School of Medicine, GAZİANTEP, TURKEY.
Turk Patoloji Derg. 2015;31(2):111-8. doi: 10.5146/tjpath.2015.01303.
About 15% of clinically recognized pregnancies result in spontaneous abortion in the first trimester and the vast majority of these are the result of chromosome abnormalities. Studies of chromosomal constitutions of first trimester spontaneous abortions have revealed that at least 50% of the abortions have an abnormal karyotype. In this study we aimed to report the single centre experience of anomalies detected in spontaneous abortions.
We present rare numerical and structural cytogenetic abnormalities detected in spontaneous abortion materials and the histopathological findings of rest material of abortion specimens in our study population.
Among 457 cases, 382 were successfully karyotyped while cell culture of 75 cases failed. Cytogenetic abnormalities were detected in 127 of 382 cases (33.24%). Autosomal trisomies were the predominant chromosomal abnormalities with a frequency of 48.8%. Structural chromosomal abnormalities were infrequent in conception materials. The mean age of the mothers was highest in trisomy group, the difference being significantly important (ANOVA p < 0.001). The most frequent chromosomal abnormalities were Turner syndrome, triploidy and trisomy of chromosome 16 followed by trisomy of chromosomes 22 and 21 and tetraploidy. Double trisomies and structural chromosomal abnormalities were rare. Trisomies were more frequent in advanced maternal age.
Detection of chromosomal abnormalities in spontaneous abortion materials is very important to clarify the causes of loss of pregnancy. Detection of structural chromosomal abnormalities in the cases and their carrier parents can provide proper genetic counseling to these families. These families can be directed towards pre-implantation genetic diagnosis to prevent further pregnancies with complications.
临床上确认的妊娠中约有15%在孕早期发生自然流产，其中绝大多数是染色体异常所致。对孕早期自然流产的染色体构成研究表明，至少50%的流产存在核型异常。在本研究中，我们旨在报告自然流产中检测到的异常情况的单中心经验。
我们展示了在研究人群的自然流产材料中检测到的罕见的数量和结构细胞遗传学异常，以及流产标本剩余材料的组织病理学发现。
在457例病例中，382例成功进行了核型分析，75例细胞培养失败。在382例病例中的127例（33.24%）检测到细胞遗传学异常。常染色体三体是主要的染色体异常，频率为48.8%。结构染色体异常在受孕材料中不常见。三体组中母亲的平均年龄最高，差异具有显著意义（方差分析p<0.001）。最常见的染色体异常是特纳综合征、三倍体和16号染色体三体，其次是22号和21号染色体三体以及四倍体。双三体和结构染色体异常很少见。三体在高龄产妇中更常见。
检测自然流产材料中的染色体异常对于明确妊娠丢失的原因非常重要。在病例及其携带者父母中检测到结构染色体异常可为这些家庭提供适当的遗传咨询。可以指导这些家庭进行植入前基因诊断，以防止进一步出现有并发症的妊娠。
