Screening For Fetal Aneuploidies
“Screening Test” – the word means a test done to detect potential health issues from a group of asymptomatic people. So, how do we conduct such tests for fetal aneuploidies.
Downs syndrome is a chromosomal abnormality seen in some individuals.First described by Langdon Down in 1866 as a group of individuals with special features like slanting palpebral fissures, short nose etc. MAA FETAL MEDICINE CENTER
Down’s syndrome is one of the most commonly seen chromosomal aneuploidies. It is named after Sir Langdon Down who described it for the first time. MAA FETAL MEDICINE CENTER
World Down’s Syndrome Day Chromosome 21 disorder Development delays Intellect disability Low muscle tone (Hypotonia) Consult: Dr Satya Priya Fetal medicine specialist Maa fetal medicine center
Downs syndrome is a chromosomal abnormality seen in some individuals.First described by Langdon Down in 1866 as a group of individuals with special features like slanting palpebral fissures, short nose etc. MAA FETAL MEDICINE CENTER
We screen the mother to identify such issues. There are 2 types of screening tests.
Gestational Age Dependent – Double marker, Quadruple marker- cost effective, good screening tests.
Gestational Age Independent – NIPT – more sensitive, expensive, better screening tests.
Double Marker – done between 10 – 13 weeks 6 days- checks for β hcg and PAPP A levels – along with NT scan – 95% sensitive.
Quadruple Marker – done around 16 weeks – checks for β hcg, AFP, estriol and inhibin A – 90% sensitive.
NIPT – Non Invasive Pre Natal Testing – checks the fetal DNA isolated from maternal blood. Depends on fetal fraction- 99% sensitive.