Perinatal and infant outcome of fetuses with prenatally diagnosed hyperechogenic kidneys

Yulia, Angela; Napolitano, R.; Aiman, Aiffa; Desai, Divyesh; Johal, Navroop; Whitten, Melissa; Ushakov, F.; Pandya, Pranav; Winyard, Paul J.D.

doi:10.1002/uog.22121

Cited by 18 publications

(39 citation statements)

References 18 publications

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“…Yulia et al 28 . recently summarized the characteristics and outcomes of 316 fetuses with hyperechogenic kidney.…”

Section: Discussionmentioning

confidence: 99%

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Association of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort

Qin

et al. 2022

Ultrasound in Obstet & Gyne

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Objectives To assess the clinical utility of prenatal chromosomal microarray analysis (CMA) in fetuses with abnormal renal sonographic findings, and to evaluate the association of pathogenic or likely pathogenic copy number variants (P/LP CNVs) with different types of renal abnormality. Methods This was a retrospective study of fetuses at 14–36 weeks screened routinely for renal and other structural abnormalities at the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region. We retrieved and analyzed data from fetuses with abnormal renal sonographic findings, examined between January 2013 and November 2019, which underwent CMA analysis using tissue obtained from chorionic villus sampling (CVS), amniocentesis or cordocentesis. We evaluated the CMA findings according to type of renal ultrasound anomaly and according to whether renal anomalies were isolated or non‐isolated. Results Ten types of renal anomaly were reported on prenatal ultrasound screening, at a mean ± SD gestational age of 24.9 ± 4.8 weeks. The anomalies were diagnosed relatively late in this series, as 64% of cases with an isolated renal anomaly underwent cordocentesis rather than CVS. Fetal pyelectasis was the most common renal ultrasound finding, affecting around one‐third (34.32%, 301/877) of fetuses with a renal anomaly, but only 3.65% (n = 11) of these harbored a P/LP CNV (comprising: isolated cases, 2.37% (4/169); non‐isolated cases, 5.30% (7/132)). Hyperechogenic kidney was found in 5.47% (n = 48) of fetuses with a renal anomaly, of which 39.58% (n = 19) had a P/LP CNV finding (comprising: isolated cases, 44.44% (16/36); non‐isolated cases, 25.00% (3/12)), the highest diagnostic yield among the different types of renal anomaly. Renal agenesis, which accounted for 9.92% (n = 87) of all abnormal renal cases, had a CMA diagnostic yield of 12.64% (n = 11) (comprising: isolated cases, 11.54% (9/78); non‐isolated cases, 22.22% (2/9); unilateral cases, 11.39% (9/79); bilateral cases, 25.00% (2/8)), while multicystic dysplastic kidney (n = 110), renal cyst (n = 34), renal dysplasia (n = 27), crossed fused renal ectopia (n = 31), hydronephrosis (n = 98), renal duplication (n = 42) and ectopic kidney (n = 99) had overall diagnostic rates of 11.82%, 11.76%, 7.41%, 6.45%, 6.12%, 4.76% and 3.03%, respectively. Compared with the combined group of CMA‐negative fetuses with any other type of renal anomaly, the rate of infant being alive and well at birth was significantly higher in CMA‐negative fetuses with isolated fetal pyelectasis or ectopic kidney, whereas the rate was significantly lower in fetuses with isolated renal agenesis, multicystic dysplastic kidney or severe hydronephrosis. The most common pathogenic CNV was 17q12 deletion, which accounted for 30.14% (22/73) of all positive CMA findings, with a rate of 2.51% (22/877) among fetuses with an abnormal renal finding. Fetuses with 17q12 deletion exhibited a wide range of renal phenotypes. Other P/LP CNVs in the recurrent region that were associated with prenatal renal ultraso...

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“…Yulia et al 28 . recently summarized the characteristics and outcomes of 316 fetuses with hyperechogenic kidney.…”

Section: Discussionmentioning

confidence: 99%

“…Yulia et al 28 recently summarized the characteristics and outcomes of 316 fetuses with hyperechogenic kidney. They found that the majority of these cases had other associated defects.…”

Section: Discussionmentioning

confidence: 99%

Association of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort

Qin

et al. 2022

Ultrasound in Obstet & Gyne

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“…20 In one study, fetuses with isolated HK and normal AF levels were found to have normal renal outcomes in infancy. 21 However, the long-term renal outcomes in such cases remain unknown.…”

Section: Discussionmentioning

confidence: 99%

“…If prenatal testing excludes genetic causes (i.e., all cytogenetic abnormalities, ARPKD, ADPKD, HNF1B ‐related disorder, tubular dysgenesis, and familial nephroblastoma), short‐term renal outcomes may be normal in the majority of isolated HK cases 20 . In one study, fetuses with isolated HK and normal AF levels were found to have normal renal outcomes in infancy 21 . However, the long‐term renal outcomes in such cases remain unknown.…”

Section: Discussionmentioning

confidence: 99%

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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“…It provides an example of the variable clinical expressivity of an identical sequence variant in members of the same family. Therefore, a genetic test result must be correlated with clinical and sonographical findings as well as family history to aedequately counsel and care for the families [1,2]. This case highlights also the importance of a multidisciplinary approach.…”

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confidence: 97%

Fetal hyperechogenic kidneys: the significance of family assessment

Tercanli

Filges

2023

Ultraschall Med

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Perinatal and infant outcome of fetuses with prenatally diagnosed hyperechogenic kidneys

Cited by 18 publications

References 18 publications

Association of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort

Association of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort

Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound

Fetal hyperechogenic kidneys: the significance of family assessment

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