Increased nuchal translucency at 14 weeks is suggestive of:
Ans. is a, i.e. Down's syndromeRef. Fernando arias 3/e, p 38, USG in obs & gynae by colleen 4/e, p 41In the options we have Down syndrome as well trisomy 18 as, discussed in preceding text, in both these conditions NT is raised still the better option is Down syndrome.My answer is based on the following lines from USG in Obs. and Gynae by Callen."Johnson et al showed that simple nuchal translucency between 10 and 14 weeks were associated with a 60% incidence of abnormal karyotypes-mostly trisomy 21. Unlike the second trimester experience, in which large cystic hygromas were most often associated with Turner syndrome, the 45X karyotype represented a minority of the karyotype abnormalities in the group of fetuses with first trimester nuchal translucency thickeningRemember:Nuchal translucency (NT) is a sonographic marker of Down syndrome/aneuploidy in first trimester whereas nuchal fold thickness (NFT > 5 mm) is the most important sonographic marker of aneuploidy in the second trimester.Absent nasal bone is another marker of Down syndrome in 1st trimester. Nasal bone is absent in 68.8% of fetuses with Down syndrome.
Down's syndrome
Esophageal atresia
Trisomy 18
Foregut duplication cyst
Diagnosis in Obstetrics