The Diagnostic Performance of Nuchal Translucency Alone as a Screening Test for Down Syndrome: A Systematic Review and Meta-analysis - PubMed
6 hours ago
- #Down syndrome
- #Nuchal translucency
- #Prenatal screening
- Down syndrome (trisomy 21) is the most common chromosomal disorder, causing intellectual disability and physical abnormalities.
- Nuchal translucency (NT) measurement via first-trimester ultrasound is used as a screening test for Down syndrome, especially in low-resource settings.
- A systematic review and meta-analysis evaluated NT's diagnostic performance, analyzing 22 cohort studies (n=225,846) in low-risk women and 7 studies (n=9,197) in high-risk women.
- Pooled sensitivity for NT was 67.8% (low-risk) and 62.2% (high-risk), while specificity was 96.3% (low-risk) and 96.5% (high-risk).
- NT is specific but has low sensitivity for detecting Down syndrome, making it useful in low-resource settings but requiring cautious interpretation due to missed cases.