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Pediatrics Genetics of Common Disorders ca69cbcc

First trimester USG finding in Down syndrome-

A
Nuchal thickening
B
Nuchal translucency
C
Cardiac anomalies
D
GI anomalies
High-Yield Explanation
Ans. is 'b' i.e., Nuchal translucency Maternal serum screeningo 1st trimesterMaternal beta hCGo Higher than chromosomal ly normal fetuseso Difference increases with gestationPAPP-Ao Lower than chromosomally normal fetuseso Difference decreases with gestation: therefore not commonly used as a second-trimester testo 2nd trimesterTriple screeningMaternal free beta hCG: higher than chromosomally normal fetusesAFP: lower than chromosomally normal fetusesUnconjugated oestriol (uE3): lower than chromosomally normal fetusesUltrasoundo First trimesterNuchal translucency: thickness depends on the size of the fetus (CRL), but in general it is considered abnormal if >3 mm.There is recent evidence thai the inclusion of nasal bone measurement improves the specificity of 1st trimester datao Second trimesterApproximately 30% of babies with Down syndrome have detectable abnormalities on the mid-trimester ultrasound 1.

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