Incidental Genetic Finding in a Fetus-Reference-Cited by-同舟云学术

Incidental Genetic Finding in a Fetus

Published:2023-12-28 Issue: Volume: Page:
ISSN:2168-6165
Container-title:JAMA Ophthalmology
language:en
Short-container-title:JAMA Ophthalmol

Author:

Arazi Mattan¹,Friedman Eitan²,Fabian Ido Didi¹³

Affiliation:

1. The Goldschleger Eye Institute, Sheba Medical Center, and the Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

2. The Meirav High Risk Clinic, Sheba Medical Center, and the Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

3. International Centre for Eye Health, London School of Hygiene & Tropical Medicine, London, United Kingdom

Abstract

A 37-year-old woman presented with suspected polycystic kidney detected on routine fetal ultrasonography, and an incidental finding of a heterozygous c.501-2 A&lt;G sequence variant in the RB1 gene was noted. What would you do next?

Publisher

American Medical Association (AMA)

Subject

Ophthalmology

Link

https://jamanetwork.com/journals/jamaophthalmology/articlepdf/2813173/jamaophthalmology_arazi_2023_cg_230019_1702417251.54292.pdf

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