Amniocentesis and genetic diagnostic-key points, for prognostic of fetes carrier of cystic fibrosis mutation

We present a case of cystic fibrosis. A secondary gravida referred to our service with a pregnancy of 7 weeks of gestation. Two years ago, she gave birth to a boy with cystic fibrosis. She and her husband were perfect healthy persons. We perform genetic test to both parents and to first child. Parents were heterozygote for DF 508 mutation, and the children homozygote. The chances for this pregnancy were 50% heterozygote, carrier of cystic fibrosis, 25% homozygote and 25% healthy with no mutations. Bitest and first trimester screening were normal. At 15 weeks of gestation we performed amniocentesis. Because ADN f…