Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation

Gondra, Leire; Decramer, Stéphane; Chalouhi, G. E.; Müller, Françoise; Salomon, Rémi; Heidet, Laurence

doi:10.1007/s00467-016-3421-6

Cited by 16 publications

(9 citation statements)

References 14 publications

(24 reference statements)

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“…Inefficient expression of HNF1B in the region of 17q12 is known to be a predominant factor leading to renal disease, which may result in fetal polyuria and polyhydramnios. The most common ultrasound finding in fetuses with 17q12 deletion was hyperechogenic kidneys [ 20 ], which was also present in our case. Thus, a view has been proposed when hyperechogenic kidney and polyhydramnios were observed prenatally, a possible diagnosis of 17q12 deletion should be considered [ 18 , 19 ].…”

Section: Discussionsupporting

confidence: 73%

Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios

Liu

Lin

et al. 2022

BMC Med Genomics

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Background Polyhydramnios, the excessive accumulation of amniotic fluid, is associated with an elevated risk of abnormal karyotype, particularly aneuploidy. Studies focusing on chromosomal microarray analysis (CMA) in pregnancies with polyhydramnios are limited. The aim of this study is to evaluate the implications of pregnancy with polyhydramnios by CMA testing and routine karyotyping. Methods Data from 131 singleton and 17 twin pregnancies that underwent prenatal CMA testing due to polyhydramnios between May 2017 and May 2021 were reviewed. Enrolled cases were grouped into isolated polyhydramnios (N = 39) and non-isolated polyhydramnios (N = 111). Non-isolated group was further categorized as subgroup of soft markers (n = 59) and non-soft markers (n = 52). Results CMA revealed an additional 10 (6.7%) chromosomal aberrations with clinical significance in 9 fetuses from singleton pregnancies and 1 from a twin pregnancy. Six microdeletion/microduplication syndromes were observed, of which 4 were located on chromosome 17. The incremental yields of clinically significant CMA findings in non-isolated polyhydramnios was 8.1%, and the values in fetuses along with soft markers and non-soft markers were 5.1% and 11.5% (p > 0.05), respectively. Only one incidental finding related to neuropathy with liability to pressure palsies was detected from 39 fetuses with isolated polyhydramnios. Conclusions Non-isolated polyhydramnios is associated with several microdeletion/microduplication syndromes, regardless of singleton or twin pregnancies. Our results suggest insufficient evidence to recommend CMA in pregnancies with isolated polyhydramnios.

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Section: Discussionsupporting

confidence: 73%

Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios

Liu

Lin

et al. 2022

BMC Med Genomics

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“…kidneys. 26 In this study, a heterozygous missense mutation (PKD1: In our study, we reported an incidental finding (PPM1D: c.1434delC) in a fetus with right renal dysplasia, which made a counseling challenges and deep ethical questions in the prenatal setting,…”

Section: Discussionmentioning

confidence: 68%

“…Accordingly, 7 cases were diagnosed with variations in PKD1 gene and 15 cases were affected by ARPKD 25 . Furthermore, Leire Gondra reported that HNF1B mutation represents the leading cause of polyhydramnios associated with hyperechogenic (and sometimes enlarged) kidneys 26 . In this study, a heterozygous missense mutation ( PKD1 : c.6571C > T) in a fetus with bilateral echogenic kidneys and two frame shift deletions (PKHD1:c.8301del and c.4481del) in a fetus with bilateral hyperechogenic and enlarged kidneys combined with oligohydramnios were identified.…”

Section: Discussionmentioning

confidence: 99%

Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole‐exome sequencing

Zhou

Yan

Shao

et al. 2020

Clinical Laboratory Analysis

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“…2 Other fetal malformations have been described, such as hyperechoic kidneys associated with a mutation in the HNF-1-β gene. 18 Placental anomalies are relatively common and should be investigated by ultrasound. In our series, we found one case of chorioangioma (benign tumor of the placenta) which can cause fetal hydrops if large.…”

Section: Discussionmentioning

confidence: 99%

“…It is to notice that none of the pathologies in this series were cardiac, which is one of the most common pathologies to develop hydramnios 2 . Other fetal malformations have been described, such as hyperechoic kidneys associated with a mutation in the HNF‐1‐ β gene 18 . Placental anomalies are relatively common and should be investigated by ultrasound.…”

Section: Discussionmentioning

confidence: 99%

Performance of diagnostic ultrasound to identify causes of hydramnios

Adam¹,

Enderle

Bouar³

et al. 2020

Prenatal Diagnosis

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Introduction We aimed to assess the diagnostic yield of ultrasonography in the identification of the etiology of hydramnios, and the added value of MRI or amniocentesis. Methods We conducted a single‐center retrospective study including pregnancies with confirmed hydramnios (defined as deepest pocket ≥8 cm) between January 2013 and May 2017. Twin pregnancies, secondary hydramnios discovered after the diagnosis of a causal pathology, and pregnancies of unknown outcome were excluded. All pregnancies underwent a targeted scan, and selected cases underwent MRI or amniocentesis. Results A total of 158 patients with confirmed hydramnios were included. Hydramnios was associated with a fetal pathology in 37 cases (23.4%), with diabetes in 39 (24.6%), isolated macrosomia in 16 (10.1%), and considered idiopathic in 66 (41.7%). Ultrasonography established a diagnosis of the underlying pathology in 73% of cases. Amniocentesis was done in 31 cases (20%) and it allowed diagnosis of chromosome anomalies, esophageal atresia, myotonic dystrophy congenital type, Prader‐Willi syndrome, and Bartter syndrome. MRI was done in 15 cases (10%) and it allowed one additional diagnosis of esophageal atresia. The diagnostic yields of MRI and amniocentesis were 91.7% and 95.2%, respectively. There were five false positive diagnoses at ultrasonography, and one false positive diagnosis at MRI. Conclusion Hydramnios can be associated with a wide variety of underlying pathologies. Diagnostic ultrasound can attain a diagnosis in the majority of cases. Amniocentesis offers a valuable complementary assessment.

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Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation

Abstract: In the absence of maternal diabetes, HNF1B mutation can be associated with polyhydramnios, probably due to fetal polyuria. Thus, HNF1B mutation represents a differential diagnosis of polyhydramnios associated with hyperechogenic (and sometimes enlarged) kidneys.

Cited by 16 publications

References 14 publications

Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios

Evaluation of genetic variants using chromosomal microarray analysis for fetuses with polyhydramnios

Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole‐exome sequencing

Performance of diagnostic ultrasound to identify causes of hydramnios

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