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Genetics (Expert Forum)
Recently tested positive as carrier for CF
Answered by
AccessDNA
Welcome to the Genetics Forum! Questions in the Genetics Forum are being answered by genetic experts from AccessDNA. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.
This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
Doctor's Answer
by Jordanna Joaquina, MS, CGC, Oct 12, 2009 07:40PM
, Oct 12, 2009 07:40PMTo: rebecca20091
We are sorry for your loss and hope that you are getting the support you need. A stillborn pregnancy can be caused by many factors, both genetic and non-genetic.
Cystic fibrosis is an autosomal recessive condition, which means that typically two mutations are needed to be affected. Both parents of an affected individual are obligate carriers (they each have only one mutation). Two carriers have a 25% chance with each pregnancy to have an affected child, but typically do not have symptoms themselves. As such, the father of your previous pregnancy could also be tested for CF to see if he is also a carrier.
We recommend that you meet with a perinatologist, a physician who specializes in high risk pregnancies, given your stillbirth. We also recommend that you meet with a genetic counselor. A genetic counselor can review your personal and family history as well as discuss the benefits and limitations of CF genetic testing. You can find a genetic counselor at the National Society of Genetic Counselors website or through companies like mine, AccessDNA.
Cystic fibrosis is an autosomal recessive condition, which means that typically two mutations are needed to be affected. Both parents of an affected individual are obligate carriers (they each have only one mutation). Two carriers have a 25% chance with each pregnancy to have an affected child, but typically do not have symptoms themselves. As such, the father of your previous pregnancy could also be tested for CF to see if he is also a carrier.
We recommend that you meet with a perinatologist, a physician who specializes in high risk pregnancies, given your stillbirth. We also recommend that you meet with a genetic counselor. A genetic counselor can review your personal and family history as well as discuss the benefits and limitations of CF genetic testing. You can find a genetic counselor at the National Society of Genetic Counselors website or through companies like mine, AccessDNA.
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