Trisomy 18.pptx - TRISOMY 18 Edwards Syndrome EMILY MCBRIDE PATHOPHYSIOLOGY DR FAIRCHILD DEFINITION Congenital disorder involving physical deformities

Trisomy 18.pptx - TRISOMY 18 Edwards Syndrome EMILY MCBRIDE...

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DEFINITION Congenital disorder involving physical deformities caused by an extra copy of all or part of Chromosome 18
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CAUSES The main cause is Nondisjunction, an error in cell division during the formation of eggs and sperm. MOST cases are not inherited and occur completely at random
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TRISOMY 18 TYPES Full Trisomy 18 In all cells 95% affected Mosaic Trisomy 18 < 5% affected Some cells Partial Trisomy 18 Inherited rearrangement of Chromosome 18 & another Chromosome < 1% affected
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MANIFESTATIONS Ultrasound Nuchal translucency Heart defects Low set ears Physical Features Club feet, small fingernails, short sternum Craniofacial abnormalities Heart & Renal defects Neurodevelopmental delays
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COMPLICATIONS If these babies are born, they’ll have several life-threatening complications Defects in respiratory and stomach/ intestines Severe developmental delays Atrial septal defect Ventricular septal defect Rocker-bottom feet Low set ears Microcephaly Micrognathia Cleft palate Frail bodies, very small
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  • Winter '20
  • Down syndrome, Congenital heart defect, Congenital heart disease, Edwards syndrome

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