The nuchal translucency scan finds more than one thing
A thickened measurement is not only about chromosomes.
The nuchal translucency is a fluid space at the back of the baby's neck measured between about 11 and 14 weeks. A thickened measurement raises the chance of chromosomal conditions, but also of structural problems, particularly heart defects, even when the chromosomes turn out to be normal.
This is worth knowing in advance, because a woman told her nuchal measurement is increased often hears only "Down syndrome," has a normal cfDNA or diagnostic result, and is reassured, when what she actually needs next is a detailed cardiac ultrasound.
Where this comes from:
151. Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med. 2005;353(19):2001-2011.
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