Trisomy syndrome - Edwards Syndrome

 

Edwards Syndrome

Trisomy 18

2^nd mc autosomal trisomy in live births                                                

3 main types of trisomy 18 are

·         Trisomy 18 d/t meiotic dysjunction – 90% cases

·         Translocation involving chromosome 18

·         Trisomy 18 mosaicism

High risk with advanced maternal age

F:M ratio among affected is 3:1

Clinical presentation

·         IUGR

·         Hypertonia

·         Prominent occiput

·         Small mouth

·         Micrognathia

·         Pointy ears

·         Short sternum

·         Horse-shoe shaped kidney

·         Rocker bottom foot

·         Flexed finger with index finger overlapping the 3^rd and 5^th finger overlapping 4^th

·         CVS abnormalities in 50% cases with VSD & PDA predominant

·         GIT abnormalities in 75% cases

     Meckel diverticulum & malrotation common

     Omphalocele also present

·                Choroid plexus cyst

 

Prenatal diagnosis – 

IUGR with polyhydramnios with abnormal hand positioning (clenched hand) s/o Edwards

 Prognosis –

Most cases die in utero and live births also have short life span – only 5-10% survive 1^st year.

Severe intellectual disability is apparent in survivors over one year of age

Although not accepted universally, Edwards cases are not intervened or intensive care is withdrawn because of the lethality of the disorder, the severe intellectual disability in those that survive beyond one year of age, and the lack of a cure.