Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature

Jones, Gabriela; Mousa, H.; Rowley, Helen; Houtman, P; Vasudevan, Pradeep

doi:10.1002/pd.4701

Cited by 24 publications

(30 citation statements)

References 28 publications

(68 reference statements)

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“…Recently, Jones et al reported two families presenting with prenatally detected hyperechogenic kidneys and postnatally diagnosed with 17q12 microdeletion syndrome. In their review, a diagnosis of 17q12 deletion with documented prenatal findings was reported in 25 cases (14 publications).…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…Prenatal diagnosis of echogenic kidneys comprises clinical dilemma regarding counseling of the future parents, especially in presence of a normal amniotic fluid amount and normal CMD, in which a normal renal function is usually expected in the neonate. [12][13][14][15] Recently, Jones et al 12 reported two families presenting with prenatally detected hyperechogenic kidneys and postnatally diagnosed with 17q12 microdeletion syndrome. In their review, a diagnosis of 17q12 deletion with documented prenatal findings was reported in 25 cases (14 publications).…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…The linkage between diagnosis of renal cortical hyperechogenicity and/or cysts leading to the diagnosis of 17q12 deletions and afterwards to the diagnosis of autism spectrum disorders (ASDs) was described in adults. 12 However, data regarding prenatal correlation between the unique and rare finding of normal-sized cortical fetal echogenic kidneys and anomalies of the TCF-2 gene are scarce. 13,14 We describe herein our experience with prenatal diagnosis of 17q12 syndromefrom renal sonographic findings to molecular diagnosis of 17q12 microdeletion and early diagnosis of neurodevelopmental disorders, mainly ASD.…”

Section: Introductionmentioning

confidence: 99%

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Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism

et al. 2016

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism

et al. 2016

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Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys

et al. 2021

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Objectives: To determine etiologies and outcomes of fetal hyperechogenic kidneys (HEK). Methods: We conducted a retrospective chart review of HEK in British Columbia (January 2013-December 2019) and literature review. Results: We identified 20 cases of HEK without other anomalies (isolated) in our provincial cohort, one was lost to follow-up. Eight had testable genetic etiologies (autosomal dominant polycystic kidney disease [ADPKD], autosomal recessive polycystic kidney disease [ARPKD], Bardet-Biedl syndrome [BBS], and HNF1Brelated disorder). The remaining seven did not have an identifiable genetic etiology. Of cases without a genetic etiology with postnatal follow-up (n ¼ 6) there were no abnormalities of blood pressure, creatinine/estimated glomerular filtration rate or urinalysis identified with follow-up from 2-71 months. We report 11 cases with extrarenal anomalies (nonisolated), with outcomes and etiologies. We identified 224 reported cases of isolated HEK in the literature. A potentially testable genetic etiology was found in 128/224 (57.1%). The neonatal death rate in those with testable etiologies was 17/128 (13.3%) compared to 2/96 (2.1%) when testable etiologies were excluded. Conclusions: Genetic etiologies (ARPKD, ADPKD, BBS, HNF1B-related disorder, Beckwith-Wiedemann syndrome, tubular dysgenesis, familial nephroblastoma, and cytogenetic abnormalities) account for approximately half of prenatally isolated HEK; once excluded there are few neonatal deaths and short-term renal outcomes may be normal. There remains a paucity of knowledge about long-term renal outcomes. Key Points What is already known about this topic? � Fetal hyperechogenic kidneys are associated with a wide range of etiologies and outcomes � There is a paucity of evidence regarding long-term renal outcomes What does this study add? � Testable genetic etiologies account for approximately half of cases without other anomalies on prenatal ultrasound � In live births of hyperechogenic kidneys without other anomalies on prenatal ultrasound, if genetic testing excludes select genetic etiologies

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Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound

Liu

et al. 2022

Prenatal Diagnosis

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Objectives: This retrospective study aimed to investigate the correlations between phenotypes of fetal renal abnormalities on prenatal ultrasound and genetic aetiologies detected using chromosomal microarray analysis (CMA) and whole-exome sequencing (WES). Methods:Fetuses with renal abnormalities were subjected to CMA and were further analysed by WES when CMA-negative. The detection rates for chromosomal abnormalities and monogenic variants among different types of isolated renal abnormalities and those with extrarenal abnormalities (non-isolated cases) were determined and compared.Results: CMA detected chromosomal abnormalities in 78 of 577 fetuses (13.52%).WES detected monogenic variants in 31 of 160 fetuses (19.38%) that had nondiagnostic CMA results. In cases of isolated hyperechogenic kidney, polycystic kidney disease, and multicystic dysplastic kidney, the detection rates of copy number variants (CNVs) by CMA and monogenic variants by WES were not significantly different (p > 0.05). However, monogenic variants were more frequently detected than CNVs when kidney abnormalities were accompanied by reduced amniotic fluid (p < 0.05). Other renal abnormalities identified on prenatal ultrasound had different detection rates. Conclusions:Our findings contribute to the overall knowledge of genetic variants associated with prenatally identified renal anomalies and may aid in decision making regarding prenatal genetic testing options for affected pregnancies. Key pointsWhat's already known about this topic?� Fetal renal abnormalities are some of the common and most easily detectable anomalies on ultrasound. The disease has a wide range of prenatal phenotypes with distinct prognoses and etiologies. Studies have shown that fetal renal abnormalities may be related to certain genetic disorders or syndromes. However, one of the major challenges to the use of genetic information in the clinical setting remains the lack of strict genotype-phenotype correlation.

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Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature

Abstract: Prenatal testing should be offered to all cases of hyperechogenic kidneys, with unknown cause.

Cited by 24 publications

References 28 publications

Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism

Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism

Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys

Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound

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