Table 2.

Clinical indications and outcomes for cases with full or partial concordance between the fetal karyotype and NIPT result

NIPT resulta	NIPT indication	Karyotype method	Karyotype result	Concordance
Monosomy 13	U/Sb	Postnatal blood	46,XX: 9.3 Mb deletion on Chr 13q	Full
Trisomy 18, XXY	AMA, U/S	CVS	48,XXY + 18	Full
Trisomy 21, XXX	AMA	Amnio	48,XXX + 21	Full
Monosomy 21	AMA	Amnio; maternal blood	Fetal: 47,XX,del(21)(q11.2‐q21),+r(21)(p11.2‐q21) Maternal: 46,XX,del(21)(q11.2q21)[4]/46,XX,del(21)(q11.2q21)r(21)(p11.2‐q21)[26]	Partial
Trisomy 21, monosomy X	U/S	Amnio	47,XX + 21	Partial
Trisomy 21, monosomy X	+MSS	Amnio	47,XX + 21	Partial
Trisomy 21, monosomy X	AMA	CVS	47,XX + 21	Partial
Trisomy 21, monosomy X	AMA	Amnio	47,XX + 21	Partial
Trisomy 21, monosomy X	AMA, U/Sc	CVS	47,XX + 21	Partial
Trisomy 21, monosomy X	+MSS	Amnio	47,XX + 21	Partial
Trisomy 21, monosomy X	AMA, +MSS, U/Sd	Amnio	47,XX + 21	Partial
Trisomy 21, monosomy X	AMA	Postnatal	47 + 21, sex not reportede	Partial
Trisomy 13, trisomy 18 suspected	n.s.	POC	47 + 13, sex not reported	Partial
Trisomy 18, trisomy 21	+MSS, U/Sf	Postnatal blood	Fetal: 47 + 21 Placental: mosaic 47 + 18	Partial
Trisomy 18, trisomy 21 suspected	U/Sg	POC	47 + 18, sex not reported	Partial
Trisomy 18, trisomy 21 suspected	Previous History	POC	47,XX + 18	Partial

AMA, advanced maternal age (>35 years at estimated date of conception); Amnio, amniocentesis; Chr, chromosome; CVS, chorionic villus sampling; n.s., not specified; +MSS, positive maternal serum screen; U/S, abnormal ultrasound findings.

^aUnless otherwise stated, all autosomal aneuploidies were reported as aneuploidy detected.

^bDandy–Walker malformation, clinodactyly.

^cIncreased nuchal translucency.

^dAbsent nasal bone, duodenal atresia.

^eCo‐twin demise reported at 9 weeks.

^fEchogenic intracardiac focus, short long bones.

^gChoroid plexus cyst, unspecified congenital heart defect, agenesis of the corpus callosum, and diaphragmatic.