Is fetal isolated double renal collecting system an indication for chromosomal microarray?

Singer, Amihood; Maya, Idit; Frumkin, Ayala; Zeligson, Sharon; Josefsberg, Sagi; Berger, R; Shachar, Shay Ben; Sagi‐Dain, Lena

doi:10.1080/14767058.2019.1613364

Cited by 5 publications

(12 citation statements)

References 27 publications

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“…16 The clinical phenotype of patients can have differences in penetrance and expression. In addition, this segment is similar to the 2.8 Mb deletion in the 22q11.21 segment, which was reported by Singer et al 8 Verbitsky et al 17 Previous studies have demonstrated that for fetal structural abnormalities detected by ultrasound in normal CMA results, WES can provide a diagnostic rate of approximately 8.5%-11.6%. 7 The application and effectiveness of WES in duplex kidney fetuses remain unclear, and no pathogenic genes were demonstrated in the isolated duplex kidney in our data.…”

Section: Genesupporting

confidence: 79%

“…Singer et al 8 reported no obvious correlation between chromosomal abnormalities and isolated duplex kidney. In our study, we noted no statistically significant difference in the CMA detection rates between isolated and non-isolated duplex kidney.…”

Section: Discussionmentioning

confidence: 97%

“…With their rapid development and widespread use, CMA and WES have increased the additional diagnostic rates of structural abnormalities in fetal ultrasound by 6%-10% and 8.5%-11.6%, respectively. 6,7 Recently, Singer et al reported the rate of chromosomal anomalies in fetuses with isolated duplex kidney, 8 and the CMA detected two (1.4%) clinically significant variants among 143 pregnancies with duplex kidney, which was not significantly different from the risk of abnormal CMA results (1.7%) in those whose indications were advanced maternal age or positive aneuploid screening results. 9 Therefore, Singer et al suggested that a duplex kidney may be considered an anatomical variant rather than an abnormal ultrasonic detection.…”

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confidence: 98%

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Prenatal diagnosis and outcomes in fetuses with duplex kidney

Ma,

Huang,

et al. 2024

Intl J Gynecology & Obste

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ObjectiveDuplex kidney is a relatively frequent form of urinary system abnormality. This study aimed to elucidate the value of chromosomal microarray analysis (CMA) and whole exome sequencing (WES) for duplex kidney and the perinatal outcomes of duplex kidney fetuses.MethodsThis retrospective cohort study included 63 patients with duplex kidney diagnosed using antenatal ultrasound between August 2013 and January 2023. We reviewed the clinical characteristics, genetic test results, and pregnancy outcomes of the patients.ResultsAmong the 63 cases based on the inclusion criteria, the CMA detected seven (11.1%) clinically significant variants and nine variants of uncertain significance (VUS), and the pathogenic/likely pathogenic (P/LP) copy number variations (CNVs) in the recurrent region that were associated with prenatal duplex kidney included 17q12, 17p13.3, and 22q11.2. No significant disparity was observed in the CMA detection rate between the unilateral and bilateral groups, or between the isolated and non‐isolated groups. WES identified three (50%) P/LP single‐gene variants in six fetuses with duplex kidney. We detected the following pathogenic genes in the duplex kidney fetuses: KMT2D, SMPD4, and FANCI. Pregnancy termination in cases where clinically significant variants were detected by genetic testing was different in statistical significance from that in cases with negative results (9/10, 90.0% vs 8/48, 16.7%, P < 0.001).ConclusionThis study elucidated the value of CMA and WES for fetal duplex kidney, proving that CMA and WES may be useful tools in prenatal diagnosis and genetic counseling.

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Section: Genesupporting

confidence: 79%

Section: Discussionmentioning

confidence: 97%

mentioning

confidence: 98%

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Prenatal diagnosis and outcomes in fetuses with duplex kidney

Ma,

Huang,

et al. 2024

Intl J Gynecology & Obste

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“…49 In this cohort, 78 clinically significant CMA results (1.4%) were found. 49 A similar analysis was conducted on previous studies based on the Israeli MOH CMA database, [33][34][35][36][37][38][39][40][41][42][43][44][45][46] aimed to assess the risk of clinically significant CMA results in various US anomalies, compared to background risk.…”

Section: Comparison To Control Cohortmentioning

confidence: 99%

“…The Israeli Ministry of Health (MOH) cohort of CMA performed due to fetal sonographic anomalies was previously described and used to evaluate the risk of clinically significant CMA results in various types of anomalies. [33][34][35][36][37][38][39][40][41][42][43][44][45][46] In this study, we investigated the frequency of CMA with clinically significant findings in pregnancies with CCA or PFA and compared it to pregnancies with normal US.…”

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confidence: 99%

Chromosomal Microarray Analysis in Pregnancies With Corpus Callosum or Posterior Fossa Anomalies

et al. 2021

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ObjectiveWe investigated the detection rate of clinically significant chromosomal microarray analysis (CMA) results in pregnancies with sonographic diagnosis of fetal corpus callosum anomalies (CCA) or posterior fossa anomalies (PFA).MethodsAll CMA tests in pregnancies with CCA or PFA performed between January 2015 and June 2020 were retrospectively evaluated from the Israeli Ministry of Health database. The rate of CMA with clinically significant (pathogenic or likely pathogenic) findings was calculated and compared to a local Israeli cohort of 5,541 pregnancies with normal ultrasound.ResultsOne hundred eighty-two pregnancies were enrolled: 102 cases with CCA and 89 with PFA (9 cases had both). Clinically significant CMA results were found in 7/102 of CCA (6.9%) and in 7/89 of PFA (7.9%) cases. The CMA detection rate in pregnancies with isolated CCA (2/57, 3.5%) or PFA (2/50, 4.0%) was lower than in nonisolated cases, including additional CNS and/or extra-CNS sonographic anomalies (CCA-5/45, 11.1%; PFA-5/39, 12.8%), but this was not statistically significant. However, the rate among pregnancies that had extra-CNS anomalies, with or without additional CNS involvement (CCA-5/24, 20.8%; PFA-5/29, 17.2%), was significantly higher compared to all other cases (p = 0.0075 for CCA; p = 0.035 for PFA). Risk of CMA with clinically significant results for all and nonisolated CCA or PFA pregnancies was higher compared to the background risk reported in the control cohort (p < 0.001), but was not significant for isolated cases.ConclusionsOur findings suggest that CMA testing is beneficial for the genetic workup of pregnancies with CCA or PFA, and is probably most informative when additional extra-CNS anomalies are observed.

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First-Trimester Genitourinary Development and Anomalies

Blumenfeld

2023

First-Trimester Ultrasound

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Is fetal isolated double renal collecting system an indication for chromosomal microarray?

Cited by 5 publications

References 27 publications

Prenatal diagnosis and outcomes in fetuses with duplex kidney

Prenatal diagnosis and outcomes in fetuses with duplex kidney

Chromosomal Microarray Analysis in Pregnancies With Corpus Callosum or Posterior Fossa Anomalies

First-Trimester Genitourinary Development and Anomalies

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