Fabry disease

Living with

Is there any research demonstrating an association between Fabry disease and an enlarged nuchal translucency?

There are no formal studies that give us much information about the relationship between nuchal translucency in pregnancy and Fabry disease. An nuchal translucency (NT) is a fluid filled area at the back of a baby's neck seen on ultrasound between 11-14 weeks of pregnancy. An NT is great indicator of the health of the baby and pregnancy. An large or enlarged NT can be a sign that the baby has a heart problem, a separate genetic condition, or a chromosome abnormality caused by having missing or extra chromosomes, such as Down syndrome or Turner syndrome. Some babies with a large NTs early in pregnancy are completely fine at birth with no heath problems. Prenatal genetic counselors are available to talk to patients about the risks associated with a large NT and help them make decisions about testing. At this point, doctors believe a large NT in pregnancy is unlikely to be related to Fabry disease.


J Prenat Med. 2011 Apr-Jun; 5(2): 23-26. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3279164/

A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy. JIMD Rep. 2015; 21: 57-63. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470955

Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ.Fabry disease in infancy and early childhood: a systematic literature review. http://www.ncbi.nlm.nih.gov/pubmed/25232851

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