Rizzo N, Pittalis M C, Pilu G, Orsini L F, Perolo A, Bovicelli L
Second Department of Obstetrics and Gynaecology, Bologna University, School of Medicine, Italy.
Prenat Diagn. 1990 Jan;10(1):17-23. doi: 10.1002/pd.1970100104.
Experience with prenatal karyotyping of 237 fetuses with sonographic evidence of malformation is reported. Abnormal karyotype was found in 40 cases (16.8 per cent): chromosomal aberrations were found in 19 of the 178 fetuses with an isolated structural anomaly (10.6 per cent) and in 21 of the 59 fetuses with multiple malformations (35.6 per cent). Detailed cytogenetic and morphological information concerning fetuses affected by omphalocele, duodenal atresia, hydrocephalus, multicystic kidney, unilateral hydronephrosis and cystic hygroma is reported. The need for a very careful ultrasound evaluation of fetal anatomy in these pregnancies is stressed, as the risk of a chromosomal anomaly depends mainly on the existence of more than one ultrasonically diagnosed structural defect.
本文报告了对237例有超声畸形证据的胎儿进行产前核型分析的经验。40例（16.8%）发现核型异常：178例孤立结构异常胎儿中有19例（10.6%）发现染色体畸变，59例多发畸形胎儿中有21例（35.6%）发现染色体畸变。报告了有关受脐膨出、十二指肠闭锁、脑积水、多囊肾、单侧肾积水和囊状水瘤影响的胎儿的详细细胞遗传学和形态学信息。强调在这些妊娠中对胎儿解剖结构进行非常仔细的超声评估的必要性，因为染色体异常的风险主要取决于超声诊断出的结构缺陷是否不止一种。
