Brajenović-Milić B, Petrović O, Krasević M, Ristić S, Kapović M
Department of Biology, School of Medicine, University of Rijeka, Croatia.
Fetal Diagn Ther. 1998 May-Jun;13(3):187-91. doi: 10.1159/000020836.
The aim of this study was to describe the cytogenetic observations on abnormal human pregnancies (anembryonic pregnancy, early fetal loss, and hydatidiform moles), and to detect the most frequent or typical chromosomal aberration for anembryonic pregnancy and early fetal loss.
Abnormal pregnancies were divided into three clinical and morphological groups: (a) anembryonic pregnancy; (b) early fetal loss, and (c) hydatidiform mole. Of the 119 karyotyped tissue samples, 42 (35%) were from anembryonic pregnancies, 64 (54%) from early fetal losses, and 13 (11%) were from hydatidiform moles (6 complete and 7 partial moles). Long-term cultures of chorionic villi and GTG-banding techniques were used for chromosome analysis.
The overall frequency of chromosome anomalies among the 119 karyotyped spontaneous abortions was found to be 37.8%. Trisomy (double trisomy included) accounted for 35.6% of all aberrations, followed by polyploidy (33.3%), mosaicism (11.1%), structural abnormalities (4.4%), and monosomy X (2.2%). Although the difference was not statistically significant, single trisomy was the predominant chromosome abnormality found in anembryonic pregnancies (64.3 %) while in cases of early fetal loss, trisomy (double trisomy included) (38.9%) and triploidy (27.8%) were quite frequently present. The frequency of triploidy among all chromosomal abnormalities was 28.9%, and 53.8% of them were found in partial hydatidiform mole. The rest of them were almost exclusively found in early fetal losses. Complete hydatidiform moles (androgenetic in origin) were present in 13.3% of all aberrations, of which 83.3% had a 46,XX, and the rest of them had a 46,XY karyotype.
本研究旨在描述对异常人类妊娠（胚胎停育、早期自然流产和葡萄胎）的细胞遗传学观察结果，并检测胚胎停育和早期自然流产中最常见或典型的染色体畸变。
异常妊娠被分为三个临床和形态学组：（a）胚胎停育；（b）早期自然流产，以及（c）葡萄胎。在119个进行了核型分析的组织样本中，42个（35%）来自胚胎停育，64个（54%）来自早期自然流产，13个（11%）来自葡萄胎（6个完全性和7个部分性葡萄胎）。采用绒毛长期培养和GTG显带技术进行染色体分析。
在119个进行了核型分析的自然流产样本中，染色体异常的总体发生率为37.8%。三体（包括双三体）占所有畸变的35.6%，其次是多倍体（33.3%）、嵌合体（11.1%）、结构异常（4.4%）和X单体（2.2%）。尽管差异无统计学意义，但单三体是胚胎停育中最主要的染色体异常（64.3%），而在早期自然流产病例中，三体（包括双三体）（38.9%）和三倍体（27.8%）较为常见。所有染色体异常中三倍体的发生率为28.9%，其中53.8%见于部分性葡萄胎。其余几乎均见于早期自然流产。完全性葡萄胎（起源于雄激素）占所有畸变的13.3%，其中83.3%的核型为46,XX，其余为46,XY核型。
