Table 1.

Characteristics of five infants with increased nuchal translucency (NT) thickness in first trimester and abnormal findings on postnatal comparative genomic hybridization (CGH) array, which were excluded from analysis

Patient number	Clinical features	NT (mm)	CGH array findings	DQ score
139	Comprehension disorder	2.8	Del 16p11,2	73
195	Global hypotonia	3.8	Familial Coffin–Lowry syndrome	59
223	Axial hypotonia, dysmorphia, ptosis	8.2	Noonan syndrome with cardiomyopathy	99
225	Hypotonia	4.8	Del 17q21‐31	51
232	Global hypotonia	6.4	Del 15q13.1q13.3	79

All patients were excluded from analyses because they would have been diagnosed with current antenatal techniques. Del, deletion; DQ, developmental quotient.