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What is the accuracy of prenatal ultrasound diagnosis in fetal cystic kidney disease?

  • Julio Mateus
    Affiliations
    1Thomas Jefferson University, Department of Obstetrics and Gynecology, Philadelphia, PA 2Alfred I. du Pont Hospital for Children, Division of Pediatric Urology, Wilmington, DE USA
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  • Silvia Narne
    Affiliations
    1Thomas Jefferson University, Department of Obstetrics and Gynecology, Philadelphia, PA 2Alfred I. du Pont Hospital for Children, Division of Pediatric Urology, Wilmington, DE USA
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  • Stuart Weiner
    Affiliations
    1Thomas Jefferson University, Department of Obstetrics and Gynecology, Philadelphia, PA 2Alfred I. du Pont Hospital for Children, Division of Pediatric Urology, Wilmington, DE USA
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  • Jorge Tolosa
    Affiliations
    1Thomas Jefferson University, Department of Obstetrics and Gynecology, Philadelphia, PA 2Alfred I. du Pont Hospital for Children, Division of Pediatric Urology, Wilmington, DE USA
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  • Alexa Herman
    Affiliations
    1Thomas Jefferson University, Department of Obstetrics and Gynecology, Philadelphia, PA 2Alfred I. du Pont Hospital for Children, Division of Pediatric Urology, Wilmington, DE USA
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  • Babu Cheku
    Affiliations
    1Thomas Jefferson University, Department of Obstetrics and Gynecology, Philadelphia, PA 2Alfred I. du Pont Hospital for Children, Division of Pediatric Urology, Wilmington, DE USA
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  • Bruce Filmer
    Affiliations
    1Thomas Jefferson University, Department of Obstetrics and Gynecology, Philadelphia, PA 2Alfred I. du Pont Hospital for Children, Division of Pediatric Urology, Wilmington, DE USA
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  • Ernesto Figueroa
    Affiliations
    1Thomas Jefferson University, Department of Obstetrics and Gynecology, Philadelphia, PA 2Alfred I. du Pont Hospital for Children, Division of Pediatric Urology, Wilmington, DE USA
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  • Vincenzo Berghella
    Affiliations
    1Thomas Jefferson University, Department of Obstetrics and Gynecology, Philadelphia, PA 2Alfred I. du Pont Hospital for Children, Division of Pediatric Urology, Wilmington, DE USA
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      Objective

      To assess the concordance between prenatal sonographic diagnosis and prognosis for fetal cystic kidney disease (FCKD) and definitive urologic postnatal or pathologic diagnosis.

      Study design

      Cases of FCKD diagnosed in utero by ultrasound at our institution and subsequently evaluated by a urologist at Dupont Children's Hospital or by a pathologist from 1991 to 2002 were retrospectively reviewed. Ultrasound diagnosis was established based on standard classification. Prenatal and postnatal prognosis was defined as good, fair, and poor. In pregnancy terminations, only diagnostic accuracy, and not prognosis, was considered.

      Results

      28 cases were identified: 11 (39.3%) multicystic dysplastic kidney disease (MCDKD), 4 (14.3%) autosomal recessive polycystic kidney disease (ARPKD), 3 (11.7%) unilateral MCKD with contralateral urinary malformation, 4 (14.2%) cystic kidneys with obstructive uropathy, and 6 (14.3%) cystic kidneys associated with structural abnormalities and genetic syndromes. 12 (42.9%) had similar bilateral pathology, 5 (17.9%) had unilateral cystic disease with contralateral urologic malformation, and 11 (39.3%) were unilateral. Oligohydramnios in 5 cases and bilateral cystic disease in 6 were associated 100% and 83.3% with fetal loss. The accuracy of prenatal diagnosis confirmed by autopsy report in 10 cases and postnatal urologic diagnosis in 16 was 78%. Misdiagnoses were due to hyperechogenicity of MCDKD interpreted as ARPCKD in 2 cases and complex urologic malformations in 4. The prognosis established by the perinatologist was concordant in 19 cases (90.4%) with the urologic postnatal diagnosis. Fetal survival rate was 57.1%.

      Conclusion

      The in utero diagnosis and clinical prognosis of FCKD made by the perinatologist had high accuracy and concordance with the post-natal diagnosis and prognosis made by pediatric urologists. Collaboration between pediatric urologists and perinatologists should be further developed to benefit the affected family.