TABLE 1.

Genetic Diagnoses Identified in a Cohort of 517 Infant Deaths: United States, 2011–2018

Syndrome (No.)	ICD-10 Code
Chromosomal (60)
Down syndrome (18)	Q90
Edward syndrome (6)	Q91-Q91.3
Patau syndrome (5)	Q91.4-Q91.7
Turner syndrome (2)	Q96
Other trisomies (3)	Q92-Q92.1, Q92.8, Q92.9 Q99, Q99.8, Q99.9
Jacobsen syndrome (3)	None
22q11 deletion syndrome (8)	None
Large chromosomal rearrangements (6) or other deletion/duplication syndrome (9)	Q92, Q93, Q99
Monogenic (55)
Other (31)	8/32 a
Spinal muscular atrophy (9)	G12.9
CHARGE syndrome (3)	None
Autosomal recessive polycystic kidney disease (5)	Q61.1
Smith-Lemli-Opitz syndrome (3)	None
Ornithine transcarbamylase deficiency (2)	E72.4
Nonketotic hyperglycinemia (2)	E72.5

Note. ICD-10 = International Classification of Diseases, 10th Revision (Geneva, Switzerland: World Health Organization; 1992). Syndromes appearing more than once are tabulated; all others are grouped together.

^a4/8 are Q00-Q99 codes.