Morse R P, Rawnsley E, Crowe H C, Marin-Padilla M, Graham J M
Department of Maternal and Child Health, Dartmouth-Hitchcock Medical Center, Hanover, NH 03756.
Prenat Diagn. 1987 Oct;7(8):573-9. doi: 10.1002/pd.1970070808.
We report here an unusual recurrence of bilateral renal agenesis (BRA) in three consecutive siblings. Chromosome analysis was normal, as were renal ultrasound studies on both parents and their surviving child. Ultrasound was employed prenatally to diagnose Potter's syndrome in both of the recurrences, and autopsy confirmed BRA in otherwise normal fetuses. Recurrence of BRA points to the usefulness of ultrasound in monitoring subsequent pregnancies in couples who have had one such occurrence. Ultrasound studies should also be performed in non-affected family members to detect the presence of asymptomatic anomalies of the genitourinary system, but a negative family study does not preclude recurrence of BRA.
我们在此报告连续三个兄弟姐妹中出现的双侧肾缺如（BRA）异常复发情况。染色体分析正常，其父母及其存活的孩子的肾脏超声检查结果也正常。在两次复发中均采用超声进行产前诊断波特综合征，尸检证实其他方面正常的胎儿存在BRA。BRA的复发表明超声在监测有过一次此类情况的夫妇后续妊娠中的有用性。还应对未受影响的家庭成员进行超声检查，以检测泌尿生殖系统无症状异常的存在，但家族检查结果为阴性并不能排除BRA复发。
