The genetic implication for preceding generations of the prenatal diagnosis of interrupted aortic arch in association with unsuspected DiGeorge anomaly.
We present a case of prenatally diagnosed interrupted aortic arch with a ventricular septal defect in the presence of maternal congenital heart disease, which led to the detection of segmental monosomy of chromosome 22q11.2 in both patients. The implications of detecting a microdeletion and the importance of a multidisciplinary approach to prenatal diagnosis and counseling are discussed.
Puder
K S
KS
Department of Obstetrics and Gynecology, Children's Hospital of Michigan, Hutzel Hospital, Detroit, USA.
Humes
R A
RA
Gold
R L
RL
Bawle
E V
EV
Goyert
G L
GL
D000328:Adult; D001013:Aorta, Thoracic / Q000002:abnormalities*; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D017353:Gene Deletion; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D016216:Ultrasonography, Prenatal