Diagnosis of fetal malformation.
Many structural abnormalities in the fetus can be reliably diagnosed by an ultrasound scan, and these can usually be made before 20 weeks. Common examples include hydrocephalus, anencephaly, myelomeningocoele, achondroplasia and other dwarfism, spina bifida, exomphalos, Gastroschisis, duodenal atresia and fetal hydrops. With more recent equipment, conditions such as cleft lips/ palate and congenital cardiac abnormalities are more readily diagnosed and at an earlier gestational age.
First trimester ultrasonic ’soft’ markers for chromosomal abnormalities such as the absence of fetal nasal bone, an increased fetal nuchal translucency (the area at the back of the neck) are now in common use to enable detection of Down syndrome fetuses.