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Rapid DNA-Based Prenatal Diagnosis of Autosomal Dominant Polycystic Kidney Disease

Alberto E. Turco, MD; Bernard Peissel, MD; Sandro Rossetti, MD; Pier Franco Pignatti, MD
Arch Pediatr Adolesc Med. 1994;148(10):1101-1102. doi:10.1001/archpedi.1994.02170100099020.
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Autosomal dominant polycystic kidney disease (ADPKD) is a common and severe life-threatening condition. Patients with this disease could benefit from prevention and early detection.1 However, few clinicians have used genetic prenatal testing in ADPKD. Only a fraction of women with ADPKD would terminate a pregnancy in case of a positive diagnosis.2 Lack of knowledge of recent molecular diagnostic options may prevent couples who are at risk for ADPKD from seeking genetic counseling, and the notion that the respon

Genotypes of diagnostic markers 3'HVR, 26.6, and AC2.5. F represents father (affected); f, fetus; M, mother; and c, constant bands. Allele symbols are shown on the right. Left, 3'HVR Southern blotting pattern following digoxigenin labeling and luminescent detection (DIG Luminescent Detection Kit, Boehringer Mannheim Biochemica, Mannheim, Germany). Smaller-sized alleles F and H appear less intense. The fetus inherited the at-risk allele H. Center, 26.6. The fetus inherited the at-risk allele


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