The genetic implication for preceding generations of the prenatal diagnosis of interrupted aortic arch in association with unsuspected DiGeorge anomaly

Prenatal Diagnosis of Tetralogy of Fallot Associated with Chromosome 22q11 Deletion

“…Very few data are available concerning the prognosis for fetuses diagnosed prenatally as having a 22q11 deletion. Prenatal diagnosis of 22q11 deletion was reported in a fetus with a known affected sister and father (24), in a fetus of a patient with the deletion and velocardiofacial syndrome (13), in a fetus of a mother with congenital heart disease (25), and in a fetus with interrupted aortic arch type B (26). The discovery of a conotruncal heart defect associated with a 22q11 deletion during pregnancy might indicate a severe form of this syndrome, which is known to show a great phenotypic variability.…”

Increased nuchal translucency and CATCH 22

“…Amniocytes and maternal blood were obtained and fluorescence in situ hybridization was used to diagnose microdeletion of chromosome 22 in both the fetus and the mother (Pudder et al, 1995). Similarly, another case of monosomy 22 has been diagnosed prenatally after cardiac malformations of the fetus were noted at 25 weeks' gestation (Merino et al, 1995).…”

PRENATAL DIAGNOSIS OF THE 22q11 DELETION SYNDROME

“…In the velo-cardio-facial syndrome, ventricular septal defect was the anomaly present in two-thirds of the patients with cardiac involvement (Young et al, 1980). Since most patients with ventricular septal defects or tetralogy of Fallot have isolated defects, such a Prenatal diagnosis of 22q11 deletion was reported in a fetus with a known affected sister and father (Van Hemel et al, 1995), in a fetus of a patient with 22q11 deletion and velo-cardiofacial syndrome , and in the fetus of a mother with congenital heart disease (Puder et al, 1995). The present case is, to our knowledge, the first report of prenatal detection of a fetus with 22q11 deletion in the absence of a family history.…”