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Table 1 Assay validation on cfDNA and paternal samples

From: Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

Description

cfDNA and biological father DNA

Confirmed invasive prenatal diagnosis

Confirmed by Sanger

Total

2033

  

Trisomy 21

22

22/22

–

Trisomy 18

4

4/4

–

Trisomy 13

1

1/1

–

SCA

2

2/2

–

Microdeletion syndromes

5

5/5

–

Number of samples with no mutations

1497

 

496/496a

Number of samples with mutations

536

 

–

Number of mutations

613

 

–

Number of unique mutations

87

 

87/87

  1. aAll 496 targeted mutations were confirmed in 5 randomly selected normal (wild-type) samples
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Molecular Cytogenetics

ISSN: 1755-8166