ultrasound appearance in Down's syndrome

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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.

Last reviewed 04/2021

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