When both members of a couple are carriers of a cystic fibrosis mutation, there is a 1 in 4 chance that any child they have will be affected with cystic fibrosis, and a 1 in 2 chance that the child will be a carrier. New reproductive technology can help parents dramatically improve their odds of giving birth to a healthy child.
The specific reproductive technology aforementioned is called Preimplantation Genetic Diagnosis (PGD). This is an IVF procedure in which embryos are genetically tested before implantation into the uterus, allowing the selection and transfer of unaffected embryos which do not have the specific genetic condition of concern. Reproductive Biology Associates (RBA) offers PGD for individuals and families who are carriers of CF, or who have a history of CF, as well as for patients of advanced maternal age, or histories of other single gene disorders.
PGD offers a couple an alternative to agonizing over whether to terminate an affected pregnancy after prenatal diagnosis is made following amniocentesis or Chorionic villa sampling (CVS) at later stages of gestation. Since PGD is not 100% reliable and only tests for specific defects, parents should consider other prenatal genetic tests, such as amniocentesis or CVS, to confirm results.
To learn more about PGD and whether this might be an appropriate option for your family, contact RBA at 1-404-257-1900, or visit our website at http://rba-online.com. We have locations in Atlanta, Alpharetta, Lawrenceville, and Fayetteville. For specific questions about the genetics of PGD, or to discuss whether this might be appropriate for your individual situation, please contact our full-time genetic counselor at jamie.dokson@rba-online.com.
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