Dania M. Jacob ( ) 1

Trisomy 18 is the second most common trisomy and occurs when a baby has three of the eighteenth chromosome. It is this extra genetic material that causes the problems associated with Trisomy 18. Edward ' s syndrome affects around 1 in 3,000, but only 1 in 5,000 – 6,000 live births. Dania M. Jacob ( ) 2

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Trisomy 18 is caused by a miss - disjuncture during mitosis. Parents have done nothing before or during pregnancy to cause this disorder in their child. Dania M. Jacob ( ) 4

With each type, there is a range of possibilities. Some children are medically fragile while others thrive Some children walk while others are confined to wheelchairs. Dania M. Jacob ( ) 5

Full Trisomy 18: –The most common type of Trisomy 18 ( occurring in about 95% of all cases ) is full Trisomy. –With full Trisomy, the extra chromosome occurs in every cell in the baby ' s body. –This type of trisomy is not hereditary. Dania M. Jacob ( ) 6

Partial Trisomy 18: –Partial trisomies are very rare. They occur when only part of an extra chromosome is present. –Some partial Trisomy 18 syndromes may be caused by hereditary factors. –Affected people have two copies of chromosome 18, plus a " partial " piece of extra material from chromosome 18. Dania M. Jacob ( ) 7

Mosaic Trisomy 18: –Mosaic trisomy is also very rare. –It occurs when the extra chromosome is present in some ( but not all ) of the cells of the body. –Mosaic Trisomy is not inherited and is a random occurrence that takes place during cell division Dania M. Jacob ( ) 8

Heart defects : –VSD ( Ventricular Septal Defect ): a hole between the lower chambers –ASD ( Atrial Septal Defect ): a hole between the upper chambers –Coarctation of the aorta : a narrowing of the exit vessel from the heart Kidney problems Part of the intestinal tract is outside the stomach ( omphalocele ) The esophagus doesn ’ t connect to the stomach ( esophageal artesia ) Excess amniotic fluid ( polyhydramnios ) Clenched hands Pocket of fluid on the brain ( choroid plexus cysts ) Rocker bottom feet Delayed growth Small jaw ( mycrognathia ) Small head ( microcephaly ) Low - set ears Strawberry - shaped head Severe developmental delays Umbilical or inguinal hernia Dania M. Jacob ( ) 9

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18 – 20 week ultrasound anomaly Blood Tests Confirmed by Chorionic Villus sampling ( CVS ) or amniocentesis Dania M. Jacob ( ) 11

Most fetuses are miscarried or still born 1/3 of babies die with in a month Only between 5% – 10% survive beyond 1 year. Those with mosaic or partial Edward ’ s can live to adulthood Dania M. Jacob ( ) 12

Mar 2004 – Oct 2007 Dania M. Jacob ( ) 13