TABLE 3.

Prenatal extracardiac findings associated with the fetal phenotype of 22q11.2

Central nervous system	38% (16/42)
Asymmetric lateral ventricles	31% (5/16)
Prominent cavum septum pellucidum	37.5% (6/16)
Mega cisterna magna	12.5% (2/16)
Neural tube defect	25% (4/16)
Gastrointestinal	9.5% (4/42)
Tracheoesophageal fistula (one with associated imperforate anus)	50% (2/4)
Umbilical cord hernia	25% (1/4)
Umbilical Vein Varix	25% (1/4)
Genitourinary	17% (7/42)
Dilated renal pelves/pyelectasis	71% (5/7)
Bilateral ureteocele	14% (1/7)
Unilateral multicystic dysplastic kidney	14% (1/7)
Pulmonary	7% (3/42)
Congenital diaphragmatic hernia	67% (2/3)
Congenital cystic adenomatoid malformation	33% (1/3)
Craniofacial dysmorphology	21% (9/42)
Bilateral cleft lip/palate	10% (1/10)
Small ears	60% (6/10)
Micrognathia	10% (1/10)
Hypotelorism	10% (1/10)
Bulbous nose	10% (1/10)
Skeletal	19% (8/42)
Bilateral talipes	25% (2/8)
Anomalous vertebrae	50% (4/8)
Pectus carinatum	12.5% (1/8)
Short long bones	12.5% (1/8)
Small/hypoplastic thymus	26% (11/42)
Polyhydramnios	31% (13/42)
Single umbilical artery	2% (1/42)

Cranial dysmorphology represents nine individual cases. One case had both hypertelorism and small ears.