Down syndrome * Genetic disease In chromosome 21, the most common chromosome abnormality in human, associated with a delay in congnitive ability ( mental retardation), physical growth, and a particular set of face characteristics. The average IQ around 50, There is 2 different hypothesis have been proposed to explain the mechanism of gen action in DS, -Development instability - Gene-dosage effect ----------- Clinical Manifestation: - Growth failure ( mental retardation) - Flat back head and broad face - Slanting eyes - Epicanthic eyefold - Short nose - Abnormal ears - Many " loops " in finger - Palm crease - Short and broad hand - Big wrinked tongue - Dental abnormality - Congenital heart disease - Enlarge colon - Intestinal blockage - Abnormal pelvis - Diminution muscle tone - Big toes widely spaced ( feet) ---------------- It could by - Trisomy 21 ( 95% ) - Mosaicism ( 3% ) - Chromosome translocation ( 2% ) ( ether 14/21 , 21/21 , 22/21 ) ( Robertsonian) ( if the father is the carrier the risk is 3% , if the mother the risk is 12% ) 75% is de nova And 25% is familia translocation With maternal age 45 the risk is 1 in 30 ---------------- Testing .... • First trimester Compound test - PAPP-A ..... If it low then the test is positive - Free B-hCG ..... If it high then the test is - Nuchal translucency (NT ) ..... If it high then the test is Screening Detectives rate of 65%, with 5% false But with the Papp-a and hCG is increase to 80% with the same false rate. //////// • Second trimester Quad mark test = - Alpha-fetoprotein (AFP) ... If it low then the test is - Unconjugated estriol ( uE3) ... Low= - hCG - inhapin A .... If it high = Or triple test without inhapin A, ( mother age, wight and ethnicity most censored) The triple test can detect 60% , with 5% false rate. ---------- Test during pragnancy ... If screening is positive = - Amniocentesis ( after week 5 ) - Chronic villus sampling ( between 9th and 14th week ) - Percutaneous umbilical blood sampling ( PUBS ) ( after week 18 ) -------- Support • Prenatal - Planing for children special need - Addressing lifestyle change - Identity supports groups and resources - Make decision about carrying the child to term • Postnatal - Guid to how to care - Referred to pediatrician for any complication - Support the easy life child with disability.

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