TABLE 2.

Sonographic findings of anatomy scan and NT in patients with prenatal diagnosis of 47, XXY

	n = 24	Specific finding	Gestational age at anatomy ultrasound	NT measurement
Normal	17 (70.8)	Normal anatomy	19 weeks 4 daysa	2.1 mma,b
Intracranial	3 (12.5)	1 vermian hypoplasia with ventriculomegalyc	18 weeks 2 days	3.9 mm
		1 mild bilateral intracerebral ventriculomegalyd	20 weeks 5 days	‐‐
		1 semilobar holoprosencephaly	20 weeks 4 days	‐‐
Skeletal	2 (8.3)	1 unilateral (right) clubbed foot	20 weeks 6 days	‐‐
		1 bilateral shortened femurs and humerie	19 weeks 5 days	2.1 mm
Cardiothoracic	1 (4.2)	1 deviated cardiac axis and cardiomegaly	16 weeks 6 days	‐‐
Gastrointestinal	1 (4.2)	1 echogenic bowel	20 weeks 3 days	‐‐

Note: Data presented as n (%).

Abbreviations: NT, Nuchal translucency, (--) NT ultrasound not performed.

^aMedian value presented for subjects with no second trimester anomalies.

^bNT not measured in 7 subjects with no ultrasound abnormalities on second trimester ultrasound.

^cLargest lateral ventricle measurement at second trimester anatomy ultrasound 12 mm.

^dLargest lateral ventricle measurement at second trimester anatomy ultrasound 11.6 mm.

^eMeasuring <10%ile at the second trimester anatomy ultrasound and <5%ile in a follow up third trimester ultrasound.