Fetal interventions for congenital renal anomalies

Irfan, Ahmer; O’Hare, Elizabeth; Jelin, Eric B.

doi:10.21037/tp-2020-fs-05

Cited by 8 publications

(2 citation statements)

References 81 publications

(106 reference statements)

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“…Renal anomalies are detected in 10%–20% of prenatal ultrasounds ( 1 ). These anomalies are most commonly described as bilateral enlarged and/or hyperechogenic kidneys and can be clustered into three major groups.…”

Section: Introductionmentioning

confidence: 99%

Fetal renal cystic disease and post-natal follow up—a single center experience

Botero-Calderon,

Lawrence,

O’Toole

et al. 2023

Front. Pediatr.

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IntroductionPrenatal sonographic evidence of large, echogenic, or cystic kidneys may indicate any one of a diverse set of disorders including renal ciliopathies, congenital anomalies of the kidney and urinary tract (CAKUT), or multisystem syndromic disorders. Systematic transition planning for these infants from in utero detection to post-natal nephrology management remains to be established.Aim of the workWe sought to evaluate the presentation and transition planning for infants identified in utero with bilateral renal cystic disease.MethodsOur retrospective observational study identified 72 pregnancies with bilateral renal cystic disease in a single center from 2012 to 2022; 13 of which had a confirmed renal ciliopathy disorder. Clinical and imaging data, genetic test results, and documentation of postnatal follow-up were collected and compared.ResultsIn our suspected renal ciliopathy cohort (n = 17), autosomal recessive polycystic disease (ARPKD) was the most common diagnosis (n = 4), followed by Bardet-Biedl syndrome (BBS, n = 3), autosomal dominant polycystic disease (ADPKD, n = 2), HNF1B-related disease (n = 2), and Meckel-Gruber syndrome (MKS, n = 2). Four cases were not genetically resolved. Anhydramnios was observed primarily in fetuses with ARPKD (n = 3). Polydactyly (n = 3) was detected only in patients with BBS and MKS, cardiac defects (n = 6) were identified in fetuses with ARPKD (n = 3), MKS (n = 2), and BBS (n = 1), and abnormalities of the CNS (n = 5) were observed in patients with ARPKD (n = 1), MKS (n = 2), and BBS (n = 3). In general, documentation of transition planning was incomplete, with post-natal nephrology management plans established primarily for infants with renal ciliopathies (n = 11/13; 85%).ConclusionPrenatal sonographic detection of echogenic kidneys should raise suspicion for a broad range of disorders, including renal ciliopathies and CAKUT. Multicenter collaboration will be required to standardize the implementation of transition guidelines for comprehensive nephrology management of infants identified in utero with enlarged, echogenic kidneys.

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Section: Introductionmentioning

confidence: 99%

Fetal renal cystic disease and post-natal follow up—a single center experience

Botero-Calderon,

Lawrence,

O’Toole

et al. 2023

Front. Pediatr.

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“…There is no regression in 90% of megacystis caused by lower urinary tract obstruction. 21 For this reason, fetal intervention has come to the fore in cases of megacystis. 22 There are three options for current fetal intervention: Vesicocentesis, vesicoamniotic shunt, and fetal cystoscopy.…”

mentioning

confidence: 99%

Evaluation of Vesicocentesis Procedure in Patients with Megacystis: A Retrospective Analysis

SEVER,

TUNCER CAN,

BAYRAKTAR

et al. 2023

J Clin Obstet Gynecol

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The fetus begins to produce urine at approximately 10 th gestational week. 1 The term 'enlarged bladder' can only be said after this week. There may be an obstruction that prevents bladder emptying, as well as the inability to empty the bladder functionally. 2 Even in some megacystis cases, there may not be any underlying pathological condition in the bladder.The incidence of megacystis has been reported to be between 1 in 5,000 to 1 in 25,000 pregnancies. 3,4 Although there are many factors that determine the prognosis of megacystis, the prognosis is poor especially in cases accompanied by oligohydramnios. [5][6][7][8][9] Megacystis can have many causes such as posterior urethral valve, Prune-belly syndrome, urethral atresia or stenosis, cloacal abnormalities, and megacystis-microcolon-intestinal-hypoperistatism syndrome. [10][11][12] The size of the bladder to be considered as megacystis is a matter of debate. 2 In the first trimester, while some clinicians accept the threshold value measured in the sagittal plane of bladder as 7 mm, there are other studies that accept it as 6 mm and 10 mm. [13][14][15][16][17][18][19] Normal bladder size was standardized to fetal size by calculating "the size of bladder in the sagittal plane/crown-rump length"; in normal fetuses, this consistently measured as <10%. 2 In addition, in a few other studies, it was stated that the absence of

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