Question:medium
Increased nuchal translucency at 14 weeks gestation is seen in:
Increased nuchal translucency at 14 weeks gestation is seen in:
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Increased nuchal translucency is the classic first-trimester marker of trisomy 21.
Updated On: Jun 24, 2026
- Turner's syndrome
- Down's syndrome
- Hydrocephalus
- Skeletal dysplasia
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The Correct Option is B
Solution and Explanation
Nuchal translucency is the thin layer of fluid behind the fetal neck measured in the late first trimester. When that layer is thick, the test is flagging a higher chance of aneuploidy, and the diagnosis examiners pair it with most often is trisomy 21.
Why Down's syndrome: increased NT is the cornerstone ultrasound component of the combined first-trimester screen for trisomy 21, used together with PAPP-A and free beta-hCG. It is the single most frequently tested association.
Turner's syndrome does enlarge the neck fluid, but it tends to do so as a frank cystic hygroma, a different and bigger picture than a simple raised NT, so it is not the cleanest fit. Hydrocephalus is a later-pregnancy finding of enlarged ventricles, and skeletal dysplasias are recognised by short or abnormal bones rather than by NT, so neither belongs to the standard NT marker list.
The expected answer is therefore Down's syndrome.
\[\boxed{\text{Down's syndrome}}\]
Why Down's syndrome: increased NT is the cornerstone ultrasound component of the combined first-trimester screen for trisomy 21, used together with PAPP-A and free beta-hCG. It is the single most frequently tested association.
Turner's syndrome does enlarge the neck fluid, but it tends to do so as a frank cystic hygroma, a different and bigger picture than a simple raised NT, so it is not the cleanest fit. Hydrocephalus is a later-pregnancy finding of enlarged ventricles, and skeletal dysplasias are recognised by short or abnormal bones rather than by NT, so neither belongs to the standard NT marker list.
The expected answer is therefore Down's syndrome.
\[\boxed{\text{Down's syndrome}}\]
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