Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities

Wan, Shanning; Zheng, Yijing; Dang, Yinghui; Song, Tingting; Chen, Biliang; Zhang, Jianfang

doi:10.1186/s13039-019-0431-7

Cited by 15 publications

(13 citation statements)

References 24 publications

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“…The phenotypes most commonly detected prenatally in association with 17q12 deletion are renal phenotypes 29,30 . In our cohort, 68.18% (15/22) of cases with 17q12 deletion presented with hyperechogenicity, consistent with previous reports [31][32][33][34][35] . A further 18.18% (4/22) of cases with 17q12 had MCDK, a rate lower than that of previous reports (60.53%) 32,33 .…”

Section: Discussionsupporting

confidence: 92%

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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Section: Discussionsupporting

confidence: 92%

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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“…The most frequently detected P/LP CNV in our cohort was 17q12 deletion (48.72%, 38/78), and this variant was mainly found to be associated with HK. Specifically, 52.63% (20/38) of the 17q12 deletion cases presented with HK, which is consistent with the rates reported in previous studies 14‐17 . Another 18 cases with the 17q12 deletion were associated with PKD and MCDK.…”

Section: Discussionsupporting

confidence: 90%

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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“…But there are some case reports of 17q12 recurrent deletion syndrome. It was usually reported in fetuses with congenital renal abnormalities [ 21 ].…”

Section: Discussionmentioning

confidence: 99%

Unusual manifestations of young woman with MODY5 based on 17q12 recurrent deletion syndrome

Cheng¹,

Zhong²,

Li³

et al. 2022

BMC Endocr Disord

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Background Maturity-onset diabetes of the young type 5 (MODY5) is a rare subtype of MODYs. It is caused by mutations of the hepatocyte nuclear factor 1 homeobox b gene (HNF1B). 17q12 recurrent deletion syndrome usually results in MODY5 because of the deletion of HNF1B. These patients often have other clinical manifestations besides diabetes. Refractory hypomagnesemia was a clue for further examination in this patient. But she lacked structural abnormalities of the genitourinary system and neurodevelopmental disorders that are common manifestations in patients with 17q12 recurrent deletion syndrome. Some atypical patients deserved attention. Case presentation A 21-year-old young woman was admitted to our hospital for severe malnutrition and gastrointestinal symptoms. At age 20, she was diagnosed with type 2 diabetes mellitus (T2DM) and was administered oral antidiabetic drugs. Soon afterward, the patient discontinued the medication on her own accord and then went to the hospital again due to diabetic ketoacidosis. After insulin treatment, diabetic ketoacidosis was cured and blood glucose was controlled satisfactorily. But intractable nausea, vomiting, and persistent weight loss were stubborn. Further examination revealed that the patient had hypokalemia and hard rectification hypomagnesemia. Genetic testing revealed about 1.85 Mb heterozygous fragment deletion on chromosome 17 and deletion of exons 1–9 of HNF1B heterozygosity missing was approved. Finally, the patient was diagnosed MODY5. Discussion and Conclusions The 17q12 recurrent deletion syndrome is characterized by MODY5, structural or functional abnormalities of the kidney and urinary tract, and neurodevelopmental or neuropsychiatric disorders. This patient did not have any structural abnormalities of the genitourinary system and neuropsychiatric disorders, which is rare. She had experienced a period of misdiagnosis before being diagnosed with 17q12 recurrent deletion syndrome, and hypomagnesemia was an important clue for her diagnosis. Therefore, diabetic physicians should be alert to a special type of diabetes if patients have unexplained signs and symptoms. The absence of well-known features of HNF1B disease does not exclude MODY5.

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Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities

Cited by 15 publications

References 24 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

Unusual manifestations of young woman with MODY5 based on 17q12 recurrent deletion syndrome

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