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• Alzheimer Disease
• Abnormally folded APP ( APP gene is coded on chromosome 21)
• Widespread cor@cal atrophy
• Narrow gyri and widening of sulci
• Demen@a
Associated Diseases
• Gastrointes@nal Disease
• Duodenal atresia
• Hirschsprung Disease
• Cons@pa@on in nearly 50% of pa@ent.
• Leukemia
• Acute Lymphoblas@c Leukemia
• Acute Myeloid Leukemia
Diagnostic factors
• Prenatal Screening
• 1st Trimester ultrasound
• Increase nuchal translucency, hypo-plas@c nasal bone.
• Blood test: Free beta. hCG increase
PAPP-A decrease
• Quad screening ( Third Trimester)
• α-fetoprotein and estriol decrease,
• β-hCG and inhibin A increase.
Confirmatory test
• Amniocentesis
• Chorionic villus sampling.
• Not done before 10 weeks gesta@on.
Treatment