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CC BY-NC-ND 4.0 · Journal of Fetal Medicine 2021; 08(01): 75-79
DOI: 10.1007/s40556-021-00295-6
Brief Communication

Prenatal Diagnosis of Radial Ray Defect Associated with Fanconi Anemia: a Case Report

Authors

  • Reema Kumar Bhatt 

    1   Army Hospital Research and Referral, Delhi, India

  • Aradhana Dwivedi

    1   Army Hospital Research and Referral, Delhi, India

  • Ratna Puri Dua

    2   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, 110060, Rajinder Nagar, New Delhi, India

  • L. B. Singh

    3   Dept of Obstetrics and Gynecology, Army Hospital Research and Referral, Delhi, India

  • Samarth Kulshrestha

    2   Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, 110060, Rajinder Nagar, New Delhi, India
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Abstract

Fanconi anemia (FA) is a rare genetic disorder with multisystem involvement. Confirmatory genetic testing is possible by diagnostic clues on examination of the proband within the differential diagnosis. We describe a fetus with radial ray defect in a primigravida. Cytogenetic testing for breakages confirmed Fanconi anemia as the etiology. Molecular testing by next generation sequencing did not reveal a point change in any of the twenty-one genes known to be associated with FA. A confirmed fetal autopsy phenotype and the cytogenetic report allowed for the identification of a homozygous deletion of exon 4–6 in the FANCC gene on re-analysis of the molecular dataset. This case exemplifies the utility of a step wise approach to the diagnosis of prenatally diagnosed radial ray defects and the importance of genetic counseling and prenatal testing.

Keywords

Fanconi anemia - FANCC gene - Chromosome breakage - Next generation sequencing - Prenatal diagnosis - Radial ray defect


Publication History

Received: 14 May 2020

Accepted: 09 December 2020

Article published online:
05 May 2023

© 2021. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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