Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing

Huang, Ruibin; Fu, Fang; Zhou, Huayun; Zhang, Lu; Lei, Tingying; Cheng, Ken; Yan, Shujuan; Guo, Fei; Wang, You; Ma, Chunling; Li, Ru; Yu, Qiuxia; Deng, Qing; Li, Lushan; Yang, Xin; Han, Jin Hee; Li, Dong-Zhi; Liao, Can

doi:10.1007/s00439-023-02545-1

Cited by 7 publications

(8 citation statements)

References 53 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Fetal renal echogenicity is a relatively common prenatal sonographic finding, seen in 1.6 per 1000 ultrasound scans. 42,43 Of relevance to the current report, it can be associated with genetic syndromes such as PKD and other ciliopathies, as well as the renal cysts and diabetes syndrome. 6,13 With the lower yield for all other anomalies pooled together excluding BEK being less than 10% collectively, it appears that the most common prenatal presentation for a single gene disorder affecting the urinary tract is that of BEK.…”

Section: Discussionmentioning

confidence: 94%

See 1 more Smart Citation

When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta‐analysis

Sonner,

Reilly,

Woolf

et al. 2023

Prenatal Diagnosis

View full text Add to dashboard Cite

ObjectiveDetermine the incremental yield of prenatal exome sequencing (PES) over chromosome microarray (CMA) and/or karyotype for urinary tract malformations (UTMs).MethodA prospective cohort study encompassing data from the English Genomic Medicine Service North Thames Laboratory Hub for fetuses with bilateral echogenic kidneys (BEKs) was combined with data from a systematic review. MEDLINE, EMBASE, Web of Science, MedRxiv and GreyLit were searched from 01/2010‐02/2023 for studies reporting on the yield of PES over CMA or karyotype in fetuses with UTMs. Pooled incremental yield was determined using a random effects model. PROSPERO CRD42023364544.ResultsFourteen studies (410 cases) were included. The incremental yield for multisystem UTMs, any isolated UTMs, and BEKs was 31% [95% CI, 18%–46%; I2 = 78%], 16% [95% CI, 6%–26%; I2 = 80%] and 51% [95% CI, 27%–75%; I2 = 34%]. The most common clinical diseases and syndromes identified, based on the variant genes detected, were Bardet‐Biedl syndrome (BBS genes), dominant and recessive polycystic kidney diseases (PKD1, PKD2 and PKHD1) and renal cysts and diabetes syndrome (HNF1B).ConclusionThere was a notable incremental genetic diagnostic yield when PES was applied to multisystem UTMs and BEKs. There was a modest incremental yield when this technique was used for UTMs other than BEKs.

show abstract

Section: Discussionmentioning

confidence: 94%

“…This would, furthermore, justify this as inclusion criteria for the NHSE PES case selection. 23,43 ADPKD is the most common monogenic kidney disease, occurring in 1 in 500 to 1 in 1000 live births. 44 Early detection from before birth up to 15 years-of-age, however occurs in only 2%-5% of cases.…”

Section: Discussionmentioning

confidence: 99%

When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta‐analysis

Sonner,

Reilly,

Woolf

et al. 2023

Prenatal Diagnosis

View full text Add to dashboard Cite

show abstract

“…Several case series have been published in recent years describing molecular and cytogenetic analysis among fetuses with HEK. [2][3][4]9,11,[14][15][16] Among fetuses with isolated bilateral HEK, the most commonly identified etiologies include ARPKD, ADPKD, and HNF1b-related intra-genic variants or CNVs at locus 17q12 encompassing HNF1b. Beyond this short list, there is a significant genetic heterogeneity, as illustrated in Table 1, which focuses on genetic conditions that have been reported with isolated HEK, and their other potential sonographic features.…”

Section: Etiology Of Echogenic Kidneysmentioning

confidence: 99%

“…Among studies of HEK which performed SNP microarray analysis, incidence of 17q12 microdeletions and/or HNF1b disease-causing variants ranges from 2% to 30%. 3,4,14 A recurring deletion at 17q12 is most commonly 1.4 Mb, though there are deletions reported of a larger size (e.g. 1.9 Mb).…”

Section: Q12 Deletion and Hnf1bmentioning

confidence: 99%

“…Among published series with larger cohorts, approximately 25% of cases present as apparently-isolated HEK, while approximately 75% of cases are non-isolated, presenting with other renal or extra-renal anomalies. [2][3][4] Terms used in the description of abnormal renal development often overlap, creating imprecision for clinicians searching for similar cases in the literature. In general, renal dysplasia refers to abnormal growth or development of the renal tissue, which is distinct from renal aplasia, referring to the early failure of the maturation or arrested development of renal tissue.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Fetal hyperechoic kidneys: Diagnostic considerations and genetic testing strategies

Hertenstein,

Miller,

Estroff

et al. 2024

Prenatal Diagnosis

View full text Add to dashboard Cite

Isolated bilateral hyperechoic kidneys (HEK) on prenatal ultrasound presents diagnostic, prognostic, and counseling challenges. Prognosis ranges from normal outcome to lethal postnatally. Presence/absence of extra‐renal malformations, gestational age at presentation, amniotic fluid volume, and renal size may distinguish underlying etiologies and thereby prognosis, as prognosis is highly dependent upon underlying etiology. An underlying genetic diagnosis, clearly impactful, is determined in only 55%–60% of cases. We conducted a literature review of chromosomal (aneuploidies, copy number variants [CNVs]) single genes and other etiologies of fetal bilateral HEK, summarized how this information informs prognosis and recurrence risk, and critically assessed laboratory testing strategies. The most commonly identified etiologies are autosomal recessive and autosomal dominant polycystic kidney disease and microdeletions at 17q12 involving HNF1b. With rapid gene discovery, alongside advances in prenatal imaging and fetal phenotyping, the growing list of single gene diagnoses includes ciliopathies, overgrowth syndromes, and renal tubular dysgenesis. At present, microarray and gene panels or whole exome sequencing (WES) are first line tests employed for diagnostic evaluation. Whole genome sequencing (WGS), with the ability to detect both single nucleotide variants (SNVs) and CNVs, would be expected to provide the highest diagnostic yield.

show abstract

Revolutionizing genetic diagnostics: Innovative techniques for inherited disease detection

Dwivedi,

Yadav,

Sahu

et al. 2024

Gene Reports

View full text Add to dashboard Cite

Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing

Cited by 7 publications

References 53 publications

When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta‐analysis

When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta‐analysis

Fetal hyperechoic kidneys: Diagnostic considerations and genetic testing strategies

Revolutionizing genetic diagnostics: Innovative techniques for inherited disease detection

Contact Info

Product

Resources

About