Abstract
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.
Original language | English |
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Pages (from-to) | 239-241 |
Number of pages | 3 |
Journal | American Journal of Obstetrics and Gynecology |
Volume | 173 |
Issue number | 1 |
DOIs | |
State | Published - 1995 |
Keywords
- DiGeorge anomaly
- congenital heart disease
- contiguous gene deletion syndrome
- interrupted aortic arch
- segmental aneusomy