Wisser J, Hebisch G, Froster U, Zerres K, Stallmach T, Leumann E, Schinzel A, Huch A
Department of Obstetrics, University Hospital Zurich, Switzerland.
Prenat Diagn. 1995 Sep;15(9):868-71. doi: 10.1002/pd.1970150914.
Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary disease with a high neonatal mortality. Currently, prenatal diagnosis is possible only during the second half of pregnancy, when bilaterally enlarged, echogenic kidneys are visible by ultrasound. We describe a case in which a diagnosis of ARPKD was sought in the first half of pregnancy. High-resolution ultrasonography revealed echogenic, normal-sized kidneys at 15 + 4 weeks. Microsatellite DNA analysis of a chorionic villus sample, parental blood, and blood of an affected sibling showed that the fetus had the maternal haplotype and a recombination of the paternal haplotype. Thus, no distinction between homo- and heterozygosity for the ARPKD mutation in the fetus was possible. A further ultrasound examination at 19 + 4 weeks confirmed the previous results, indicating that the fetus was likely to be affected. After termination of the pregnancy, the diagnosis was confirmed on microscopic examination.
常染色体隐性多囊肾病（ARPKD）是一种罕见的遗传性疾病，新生儿死亡率很高。目前，产前诊断仅在妊娠后半期可行，此时通过超声可看到双侧增大的、回声增强的肾脏。我们描述了一例在妊娠前半期寻求ARPKD诊断的病例。高分辨率超声检查显示在孕15 + 4周时肾脏回声增强、大小正常。对绒毛膜绒毛样本、父母血液及患病同胞的血液进行微卫星DNA分析，结果显示胎儿具有母亲的单倍型和父亲单倍型的重组。因此，无法区分胎儿中ARPKD突变的纯合性和杂合性。在孕19 + 4周时进行的进一步超声检查证实了先前的结果，表明胎儿可能患病。终止妊娠后，经显微镜检查确诊。
