Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations

Aude Anquetil; Suonavy Khung Savatovsky; Laurent Gavard; Anne Bazin; Fabien Guimiot; Christele Dubourg; Laurent Mandelbrot; Olivier Picone

doi:10.1002/ccr3.4838

Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations

Clin Case Rep. 2021 Sep 22;9(9):e04838. doi: 10.1002/ccr3.4838. eCollection 2021 Sep.

Authors

Aude Anquetil^{1

2}, Suonavy Khung Savatovsky³, Laurent Gavard¹, Anne Bazin⁴, Fabien Guimiot^{2

3}, Christele Dubourg^{4

5}, Laurent Mandelbrot^{1

2}, Olivier Picone^{1

2}

Affiliations

¹ Assistance Publique- Hôpitaux de Paris Service de Gynecologie Obstetrique Hôpital Louis Mourier Colombes France.
² Université de Paris Paris France.
³ Assistance Publique- Hôpitaux de Paris Unité Fonctionnelle de Fœtopathologie Hôpital Robert-Debré Paris France.
⁴ Service de Génétique Moléculaire et Génomique CHU Rennes France.
⁵ CNRS IGDR UMR 6290 Univ Rennes Rennes France.

Abstract

Testing the partner of a BRCA2 carrier must always be discussed. If both members of the couple are BRCA2 carriers, they should be informed about the high risks of polymalformative syndromes.

Keywords: BRCA2; Fanconi anemia; Genetic counseling; Genetics; Polymalformative symdrome; Prenatal diagnosis; VACTERL‐H; ultrasound.

Publication types

Case Reports