Edward syndrome (Trisomy 18)

 

Majority are non-dysjunction resulting in 47,XX,+18 or 47,XY,+18

 

Rapid testing with FISH or full Karyotype (Micro-Array) confirms additional chromosome 18

 

Antenatal scans show multiple congenital anomalies and majority are miscarried in 1^sttrimester

 

Anomalies include

– Symmetrical IUGR at birth with Microcephaly

– Prominent occiput with low-set ears and tight palpebral fissures

– Congenital heart disease (usually VSD),

– Hypoplastic nails, Overlapping digits and rocker-bottom feet

– Hypertonia and short sternum

 

 

Counseling at suspicion is necessary either antenatal or after birth

 

Majority die within days after birth, though some survive for a few months

 

Management is supportive, but prognosis is poor.