ultrasound appearance in Down's syndrome
Last reviewed 04/2021
Typical appearance on ultrasound of a fetus with Down's syndrome are:
- short femur
- double stomach bubble, as a result of duodenal atresia
- nuchal oedema - when this occurs at 10-14 weeks gestation this may reflect
fetal heart failure (which in turn may reflect a serious anomaly of the heart
or great arteries). There is a strong association between chromosomal abnormality
and increasing nuchal thickness (fetal nuchal translucency). A study has revealed
that, at 10-13 weeks gestation, 84% proven trisomy 21 fetuses had a nuchal
translucency of greater than 3 mm - this compares with 4.5% of chromosomally
normal fetuses (1)
- renal pyelectasis
- sandal gap
- clinodactyly
- macroglossia
- cardiac malformation eg atrioventricular septal defect
Reference:
- Nicholaides K (1994). Br J Obst Gynae, 101, 982.
- Roberts L et al (1994). Prenatal diagnosis. Medicine International, 22(1), 25-8.