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Screening for Fetal Chromosomes Antenatal Testing

Recommend 35 years by time delivery

High risk, family history

Triple screen 70% sensitivity

Quad Screen 80%

Nuchal translucency 1st trimester 11-13 weeks 70% alone

NT+B HCG & PAPP-A (glycoprotein like HCG produced by trophoblasts dec 0.43)

1st trimester 85%

Combined HCG/PAPP-A & AFP/Estriol/inhibin

Integrated Screen 94-96% (NT +HCG, PAPP-A & QUAD)

Serum Integrated 85& (PAPP-A & QUAD)

NT- useful multigestation since serum screening not accurate in twins. Not available with triplets or high order multiples

Positive 1st trimester screen

U/S 2nd trimester

Question-

Highest detection rate for Down’s syndrome

Nasal bone and tricuspid regurgitation clinical useful uncertain still research

Increased AFP > 2.0-2.5

Increased acetylcholine 100% with anencephaly and open spine bifida

 
Author
Dr. Khalil

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