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Table. 3 Comparison of the results of the conventional test with those of the RT-PCR-based NIPT

From: Novel method of real-time PCR-based screening for common fetal trisomies

 

Non-NIPT screening testa (n = 924)

RT-PCR-based NIPT (n = 924)

P

Sensitivity

5/5

100%

5/5

100%

(–)

Specificity

834/918

91%

905/918

99%

 < 0.0001

Screening positive rate

89/924

10%

18/924

1.9%

 
 

NGS based NIPT (n = 51)

RT-PCR-based NIPT (n = 51)

P

Sensitivity

3/3

100%

3/3

100%

(–)

Specificity

48/48

100%

47/48

98%

NS

Screening positive rate

3/51

6%

4/51

8%

 
 

Diagnostic test or no screening testb (n = 48)

RT-PCR-based NIPT (n = 48)

P

Sensitivity

N/A

12/13

92%

(–)

Specificity

N/A

35/35

100%

(-)

Screening positive rate

N/A

12/48

25%

 
  1. NIPT, non-invasive prenatal test; RT-PCR, real-time polymerase chain reaction; NGS, next generation sequencing; N/A, not applicable; NS, non-specific
  2. aIncluding 2 nuchal translucency, 14 Quad tests, 905 integrated tests, and 3 sequential tests (one had a sequential test, but the result was unknown)
  3. b47 performed an invasive diagnostic test as the primary test while 1 patient did not undergo screening test
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BMC Medical Genomics

ISSN: 1755-8794

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