Bright and enlarged fetal kidneys: One phenotype different genotypes, and counseling dilemmas

• Published in: Journal of clinical ultrasound
• Main Authors: Paliwal, Preeti, Thakur, Seema, Sharma, Shreyasi
• Format: Journal Article
• Language: English
• Published: 05.09.2024
• ISSN: 0091-2751; 1097-0096; 1097-0096
• DOI: 10.1002/jcu.23797

Abstract Introduction In the present study we describe atypical cases with bright and enlarged fetal kidneys identified on fetal ultrasound with different genetic etiologies. Methods Exome sequencing was undertaken after prenatal counseling and after the initial diagnosis of enlarged fetal kidneys was made on ultrasound for four cases and the results were then correlated. Results In the present study we identified underlying variants in ACE, ETFA, PKD1 , and MKS1 gene where the atypical presentation of fetal kidneys was noted either as a part of spectrum of syndrome or alone. Conclusions In the era of exome sequencing, targeted gene sequencing is getting replaced and for better. However not all answers are direct, and sometimes the variant categorization is dependent on the acumen and agreement of all those involved in the process. It includes those involved the diagnostic as well those catering to the patients. It is very important to be updated on the relevance of multiple gene in causing similar phenotypes particularly in the prenatal context were coming up with a timely diagnosis is very important for any sort of intervention.