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. Author manuscript; available in PMC: 2024 Apr 10.

Published in final edited form as: J Genet Couns. 2022 Oct 6;32(1):250–259. doi: 10.1002/jgc4.1639

TABLE 2.

Karyotypes stratified by timing of diagnostic testing

Diagnostic karyotype	Full cohort of NIPT Positive for SCA^a (n = 152)	CVS prenatal diagnostic testing (n = 13)	Amnio prenatal diagnostic testing (n = 52)	Deferred to postnatal diagnostic testing (n = 87)^b
47,XXY	104 (68%)	10 (10%)	37 (36%)	57 (55%)^a
47,XXX	27 (18%)	1 (4%)	11 (41%)^a	15 (56%)
47,XYY	15 (10%)	2 (13%)	3 (20%)	10 (67%)
48,XXYY	6 (4%)	-	1 (17%)^a	5 (83%)^a
All SCAs	152 (100%)	13 (9%)	52 (34%)	87 (57%)

Abbreviations: amnio, amniocentesis; CVS, chorionic villus sampling; NIPT, noninvasive prenatal testing.

^a

Includes Discordant NIPT versus Diagnostic Results, see Table 4.

^b

85% of all diagnostic confirmations deferred to postnatal were conducted prior to 2 months of age and were confirmed in cord blood or peripheral blood.