Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm

Simonini, Corinna, Froschen, Eva-Maria, Nadal, Jennifer, Strizek, Brigitte, Berg, Christoph, Geipel, Annegret and Gembruch, Ulrich . Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm. Arch. Gynecol. Obstet.. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-0711

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DOI:10.1007/s00404-022-06814-8

Abstract

Purpose Report on the diagnosis of prenatally detected fetal kidneys with bilateral polycystic appearance in a single center between 1999 and 2020 with special focus on renal morphology and biometry, amniotic fluid and extrarenal findings and proposal for an diagnostic algorithm. Methods Retrospective observational study including pregnancies with prenatally detected kidneys with bilateral polycystic appearance (n = 98). Cases and outcomes were compared according to prenatal findings with special focus on renal morphology, amount of amniotic fluid, and presence of extrarenal abnormalities. Results Most frequent diagnoses were autosomal recessive polycystic kidney disease (ARPKD, 53.1%), Meckel-Gruber syndrome (MKS, 17.3%) and autosomal dominant polycystic kidney disease (ADPKD, 8.2%). Other diagnoses included: Joubert-, Jeune-, McKusick-Kaufman- and Bardet-Biedl syndrome, overgrowth syndromes, Mainzer-Saldino syndrome and renal tubular dysgenesis. Renal abnormalities most frequently observed were hyperechogenic parenchyma, kidney enlargement, changes of corticomedullary differentiation and cystic changes of various degree. Oligo- and anhydramnios were mainly seen in ARPKD, RTD and second-trimester MKS. Extrarenal findings included skeletal (35.7%) and cardiac (34.7%) abnormalities as well as abnormalities of the central nervous system (27.6%). Conclusion Gestational age at manifestation, kidney size, visibility of cysts, echogenicity, amniotic fluid volume, and the presence of associated extrarenal malformations allow to differentiate between the most frequent underlying diseases presenting with bilateral polycystic kidneys on prenatal ultrasound by following a diagnostic algorithm.

Item Type:

Journal Article

Creators:

Creators	Email	ORCID	ORCID Put Code
Simonini, Corinna	UNSPECIFIED	UNSPECIFIED	UNSPECIFIED
Froschen, Eva-Maria	UNSPECIFIED	UNSPECIFIED	UNSPECIFIED
Nadal, Jennifer	UNSPECIFIED	UNSPECIFIED	UNSPECIFIED
Strizek, Brigitte	UNSPECIFIED	UNSPECIFIED	UNSPECIFIED
Berg, Christoph	UNSPECIFIED	UNSPECIFIED	UNSPECIFIED
Geipel, Annegret	UNSPECIFIED	UNSPECIFIED	UNSPECIFIED
Gembruch, Ulrich	UNSPECIFIED	UNSPECIFIED	UNSPECIFIED