Neurofibromatosis : Type I (NF1) is caused by mutation in the neurofibromin gene on chromosome 17q11.2. A Chromosome Microarray Analysis done on CVS or Amniocentesis can detect it prenatally. Your OB, perinatologist or fetal-maternal medicine specialist will have to obtain a prior authorization for the lab to do a CMA rather than standard Chromosome Analysis. See http://www.ctf.org.
Answered 1/4/2020
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Neurofibromatosis: Yes. Prenatal testing with amniocentesis or chorionic villus sampling can detect Neurofibromatosis Type 1. NF-1 occurs as a gene mutation on chromosome 17. Half the cases are inherited as autosomal dominant and half of the cases can be spontaneous.
Answered 5/9/2014
4.1k views
I'd advise it: One of you may be a mosaic and have many germ cells affected.
Answered 9/1/2014
3.8k views
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