Severe terminal transverse limb reduction defects in homozygous Southeast-Asian alpha-thalassaemia-1

A rare occurrence of a homozygous a-thalassaemia fetus with severe terminal transverse limb reduction defects involving all limbs is reported. When prenatal testing, either by DNA analysis or haemoglobin electrophoresis, indicating a fetus with homozygous alpha-thalassaemia, a complete sonographic survey of fetal limbs is mandatory, and terminal transverse limb reduction defects should be included in genetic counselling prior to in utero fetal therapy.