Baena N, Guitart M, Ferreres J C, Gabau E, Corona M, Mellado F, Egozcue J, Caballín M R
Service of Genetics' Laboratory, Corporació Sanitària Parc Taullí, Laboratori Genètica, Parc Taulí, s/n, 08208, Sabadell, Spain.
Ann Genet. 2001 Apr-Jun;44(2):83-8. doi: 10.1016/s0003-3995(01)01042-5.
The aim of the study was to carry out cytogenetic analyses in pregnancy losses. Samples of cartilage and placenta tissue were obtained prospectively from 237 pregnancy losses of more than 16 weeks of gestation (130 stillbirths, 97 induced abortions and 10 early neonatal deaths). Cartilage culture was performed in 222 samples and placental culture was initiated in 224. The overall culture success rate was 83.5%, 72.3% in stillbirths, 97% in induced abortions and 100% in early neonatal death. An abnormal karyotype was detected in 52 cases: 6.9% in stillbirths, 43.6% in induced abortions and 20% in early neonatal deaths. The rate of discrepancy between the prenatal cytogenetic results in amniotic fluid and the post-termination karyotype was 3%. The tissue of choice for cytogenetic analysis was cartilage in induced abortions and early neonatal death, and placenta in stillbirth. The majority of cases had a chromosome abnormality: multiple congenital anomalies in 74.6%, and a single major anomaly in 9.7%.
本研究的目的是对妊娠丢失进行细胞遗传学分析。前瞻性地从237例妊娠16周以上的妊娠丢失病例（130例死产、97例人工流产和10例早期新生儿死亡）中获取软骨和胎盘组织样本。222份样本进行了软骨培养，224份样本开始进行胎盘培养。总体培养成功率为83.5%，死产中为72.3%，人工流产中为97%，早期新生儿死亡中为100%。52例检测到异常核型：死产中为6.9%，人工流产中为43.6%，早期新生儿死亡中为20%。羊水产前细胞遗传学结果与终止妊娠后核型之间的差异率为3%。细胞遗传学分析的首选组织在人工流产和早期新生儿死亡中是软骨，在死产中是胎盘。大多数病例存在染色体异常：74.6%为多发先天性畸形，9.7%为单一主要畸形。
