Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (arpkd) during the early second trimester |
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| Authors: | J Wisser MD G Hebisch U Froster K Zerres T Stallmach E Leumann A Schinzel A Huch |
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| Institution: | 1. Department of Obstetrics, University Hospital Zurich, Switzerland;2. Institute of Human Genetics, University of Bonn, Germany;3. Institute of Clinical Pathology, University of Zurich, Switzerland;4. Department of Pediatrics, University of Zurich, Switzerland;5. Institute of Medical Genetics, University of Zurich, Switzerland |
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| Abstract: | 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. |
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| Keywords: | autosomal recessive polycystic kidney disease prenatal ultrasound DNA marker analysis |
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