Schmidt W, Schroeder T M, Buchinger G, Kubli F
Clin Genet. 1982 Sep;22(3):105-27. doi: 10.1111/j.1399-0004.1982.tb01422.x.
We report on 12 early prenatal diagnoses of "Potter syndrome" and other severe fetal kidney diseases by ultrasonic observations of persistent oligohydramnios and absence of kidney function; seven pregnancies were terminated. These cases are discussed together with others observed in a total of 23 families. Special attention is given to the difficulty of classifying the various kidney diseases pathoanatomically, and also of determining the recurrence risk in the affected families. For genetic counselling, the possibility of early prenatal diagnosis is a practical solution to this problem. Routine ultrasound supervision of pregnancies can already detect a first, sporadic case of the various kidney diseases.
我们报告了通过超声观察持续性羊水过少和肾功能缺失对12例“波特综合征”及其他严重胎儿肾脏疾病进行的早期产前诊断；7例妊娠被终止。这些病例与在总共23个家庭中观察到的其他病例一起进行了讨论。特别关注了对各种肾脏疾病进行病理解剖学分类的困难，以及确定受影响家庭的复发风险的困难。对于遗传咨询而言，早期产前诊断的可能性是解决这一问题的切实可行办法。孕期的常规超声监测已能够检测出各种肾脏疾病的首例散发病例。
