Paoloni-Giacobino A, Extermann D, Extermann Ph, Dahoun S Y
Division of Medical Genetics, Geneva University Hospital, Switzerland.
Genet Couns. 2003;14(4):413-8.
The goal of the study was to assess the prognostic value of ultrasound finding of fetal cystic hygromas. Thirty cases of septated cystic hygromas were diagnosed at 10-15 weeks gestation by transabdominal ultrasound and followed through pregnancy. The rate of abnormal karyotype was found to be 61% and the global rate of unfavorable outcome, independently of karyotype result, as high as 96%. These data suggest that cautious genetic counselling should be offered when such cystic hygromas are noticed during the first 15 weeks of gestation, even with a normal karyotype.
该研究的目的是评估胎儿囊状水瘤超声检查结果的预后价值。通过经腹超声在妊娠10至15周时诊断出30例分隔性囊状水瘤,并对整个孕期进行随访。发现异常核型的发生率为61%,且无论核型结果如何,不良结局的总体发生率高达96%。这些数据表明,在妊娠前15周发现此类囊状水瘤时,即使核型正常,也应提供谨慎的遗传咨询。