PRENATAL SONOGRAPHIC DIAGNOSIS OF AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY-DISEASE (ARPKD) DURING THE EARLY 2ND-TRIMESTER

Autosomal recessive polycystic kidney disease (ARPKD) is a rare heredi tary disease with a high neonatal mortality. Currently, prenatal diagn osis is possible only during the second half of pregnancy, when bilate rally enlarged, echogenic kidneys are visible by ultrasound. We descri be a case in which a diagnosis of ARPKD was sought in the first half o f pregnancy. High-resolution ultrasonography revealed echogenic, norma l-sized kidneys at 15+4 weeks. Microsatellite DNA analysis of a chorio nic villus sample, parental blood, and blood of an affected sibling sh owed that the fetus had the maternal haplotype and a recombination of the paternal haplotype. Thus, no distinction between homo- and heteroz ygosity for the ARPKD mutation in the fetus was possible. A further ul trasound examination at 19+4 weeks confirmed the previous results, ind icating that the fetus was likely to be affected. After termination of the pregnancy, the diagnosis was confirmed on microscopic examination .