title: [Risk of missed diagnosis of 22q11.2 deletion in a fetal cardiac conotruncal malformation when another chromosomal abnormality is detected].
abstract: We present a rare case of prenatal diagnosis of two de novo chromosome structural rearrangements including a translocation (1;3) associated with a 22q11.2 deletion. The amniocentesis was performed because the systematic ultrasound examination revealed: right aortic cross with double aortic arch, with normal size of aorta and pulmonary artery. Our report emphasises that 22q11.2 deletion must be looked for when a fetal cardiac conotruncal malformation is diagnosed, even in the presence of another chromosomal abnormality. In prenatal diagnosis, this can have implication for patient management and genetic counselling.
authors.affiliation: Inserm U-782, service de gynécologie-obstétrique, hôpital Antoine-Béclère, AP-HP, université Paris-Sud, UMR-S0782, 157, rue de la Porte-de-Trivaux, 92140 Clamart, France. olivier.picone@abc.aphp.fr
authors.forename: O
authors.initials: O
authors.lastname: Picone
authors.forename: S
authors.initials: S
authors.lastname: Brisset
authors.forename: M-V
authors.initials: MV
authors.lastname: Senat
authors.forename: M-L
authors.initials: ML
authors.lastname: Maurin
authors.forename: R
authors.initials: R
authors.lastname: Frydman
authors.forename: G
authors.initials: G
authors.lastname: Tachdjian
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D005820:Genetic Testing; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic