Table 1 Diagnostic performance of the cSMART assay

From: A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations

IPS fetal genotypes

NIPS fetal genotypes

 

Concordant

Discordant

Concordance rate

A1a1: maternal; A1a1: paternal (n=25)

 A1A1 (n=3)

3

0

100%

 A1a1 (n=17)

17

0

100%

 a1a1 (n=5)

5

0

100%

A1a1: maternal; A2a2: paternal (n=55)

 A1A2 (n=17)

16

1

94.1%

 A1a2 (n=11)

11

0

100%

 a1A2 (n=14)

11

3

78.6%

 a1a2 (n=13)

10

3

76.9%

All (n=80)

73

7

91.3%

  1. cSMART, circulating single-molecule amplification and resequencing technology; IPS, invasive prenatal screening; NIPS, noninvasive prenatal screening.
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