title: Fetal phenotype associated with the 22q11 deletion.
abstract: The 22q11 deletion syndrome is one of the most common human microdeletion syndromes, with a wide spectrum of abnormalities. The fetal phenotype associated with the 22q11 deletion is poorly described in the literature. A national retrospective study was performed from 74 feto-pathological examinations. The objectives were to evaluate the circumstances of the 22q11 deletion diagnosis and to describe fetal anomalies. Post mortem examinations were performed after 66 terminations of pregnancy and eight fetal deaths. The series included nine fetuses from the first trimester, 55 from the second trimester, and ten from the third trimester. A 22q11 FISH analysis was recommended for 57 fetuses after multidisciplinary prenatal diagnostic counseling and for 17 fetuses by a fetal pathologist. Conotruncal heart defects were the most common anomalies (65 fetuses), followed by thymus defects (62 fetuses), and malformations of the urinary tract (25 fetuses). This study identified several unusual and severe features rarely described in the literature. Neurological abnormalities were described in ten fetuses, with seven neural tube defects and five arhinencephalies. This series also included lethal malformations: two hypoplastic left heart syndromes, two bilateral renal agenesis, and one tracheal agenesis. Genetic analysis for a 22q11 deletion is usually indicated when a congenital conotruncal heart and/or thymus defect is detected, but might also be useful in case of other lethal or severe malformations that initially led to the termination of pregnancy.
authors.affiliation: Service de Génétique et Biologie de la Reproduction, Hôpital Maison Blanche, Centre Hospitalier Universitaire, Reims, France.
authors.forename: Anne-Claire
authors.initials: AC
authors.lastname: Noël
authors.forename: Fanny
authors.initials: F
authors.lastname: Pelluard
authors.forename: Anne-Lise
authors.initials: AL
authors.lastname: Delezoide
authors.forename: Louise
authors.initials: L
authors.lastname: Devisme
authors.forename: Laurence
authors.initials: L
authors.lastname: Loeuillet
authors.forename: Brigitte
authors.initials: B
authors.lastname: Leroy
authors.forename: Alain
authors.initials: A
authors.lastname: Martin
authors.forename: Raymonde
authors.initials: R
authors.lastname: Bouvier
authors.forename: Annie
authors.initials: A
authors.lastname: Laquerriere
authors.forename: Corinne
authors.initials: C
authors.lastname: Jeanne-Pasquier
authors.forename: Betty
authors.initials: B
authors.lastname: Bessieres-Grattagliano
authors.forename: Charlotte
authors.initials: C
authors.lastname: Mechler
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Alanio
authors.forename: Camille
authors.initials: C
authors.lastname: Leroy
authors.forename: Dominique
authors.initials: D
authors.lastname: Gaillard
mesh_terms: D058165:22q11 Deletion Syndrome / Q000175:diagnosis* / Q000235:genetics*; D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D005260:Female; D005333:Fetus; D056726:Genetic Association Studies; D005817:Genetic Counseling; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies
keywords: 22q11 deletion syndrome; DiGeorge syndrome; conotruncal cardiac defect; fetus; holoprosencephaly; kidney; neural tube defect; prenatal diagnosis; thymus; upper respiratory tract