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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 4.

Discordant results between NIPT and diagnostic karyotype

NIPT result Fetal fraction per NIPT report (%) Maternal age range at delivery (years) Maternal prepregnancy BMI (kg/cm2) Diagnostic test pursued Diagnostic test result
45,X NR 35–39 23.9 Amnio 47,XXX
47,XXX 10.7 35–39 29.4 Amnio 47,XXX[6]/46,XX[9]
47,XYY 6.3 35–39 21.2 Postnatal 47,XXY
Increased risk for trisomy 13/18/triploidy 3.2 30–34 29.8 Postnatal 47,XXY
Inconclusive 6 30–34 36.5 Amnio 47,XXY
47,XXY 6.9 20–24 29.4 Amnio 47,XXY[91%]/46,XX[9%]
47,XXY 6 30–34 20.5 Postnatal 48,XXYY
47,XXY NR 20–24 22.3 Amnio 48,XXYY
47,XYY 11.8 30–34 24 Postnatal 48,XXYY
47,XXY 7 30–34 26.4 Postnatal 48,XXYY
47,XYY 6.1 35–39 30.2 Postnatal 48,XXYY
47,XXY 4 35–39 36.6 Postnatal 48,XXYY

Abbreviations: BMI, body mass index; NIPT, noninvasive prenatal testing; NR, not reported.