What Diseases Does NIPT Screen For? Trisomies, Sex Chromosome Abnormalities, and Microdeletions

Primary Autosomal Trisomies

Trisomy 21 (Down Syndrome)

Three copies of chromosome 21. NIPT accuracy exceeds 99.9%.

Trisomy 18 (Edwards) and 13 (Patau)

Severe abnormalities. NIPT accuracy: 98-99%.

Sex Chromosome Abnormalities

• Turner Syndrome (45,X)
• Klinefelter Syndrome (47,XXY)
• Triple X (47,XXX)
• Jacobs (47,XYY)

Microdeletions

• 22q11.2 (DiGeorge): Heart defects, cleft palate, immune deficiency
• 1p36: Severe intellectual disability, seizures
• Angelman (15q11.2)
• Prader-Willi
• Cri-du-chat (5p)

What NIPT Cannot Screen

• Single-gene disorders (SMA, Cystic Fibrosis)
• Anatomical defects (heart holes, cleft lip)
• Autism

Conclusion

NIPT is a comprehensive genetic screen but does not replace detailed ultrasound.