A member asked:

I have a child with nf, she's spontanous, not me or my hubby have it, so if i do a cvs can we know if second child has nf too?

5 doctors weighed in across 3 answers
Dr. Johanna Fricke answered

Specializes in Pediatrics - Developmental and Behavioral

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

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I'd advise it: One of you may be a mosaic and have many germ cells affected.

Answered 9/1/2014

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