Is prenatal diagnosis possible with Freeman Sheldon syndrome?
With advanced planning and appropriate testing, it may be possible to find out if a fetus or child will be affected.
If the genetic changes (mutations) in an affected family member have been identified, prenatal genetic testing may be possible during pregnancy. Genetic testing may be performed on a sample obtained by chorionic villus sampling (at about 10 to 12 weeks gestation), or by amniocentesis (usually performed at about 15 to 18 weeks gestation). If the condition is confirmed in the fetus by either method, planning for an affected child and/or pregnancy management options may be discussed with a health care provider.
As an alternative to prenatal diagnosisduring the pregnancy, preimplantation genetic diagnosis (PGD) before a pregnancy may be an option if the mutations in the family are known. PGD is done after in vitro fertilization (IVF) to diagnose a genetic condition in an embryo before it is introduced into the uterus. When having PGD, only embryos known to be unaffected are introduced into the uterus for a possible pregnancy.
People interested in genetic testing, prenatal diagnosis, and/or PGD should speak with a genetic counselor or other genetics professional regarding their testing options. A genetics professional can help by:
thoroughly evaluating the family history
addressing questions and concerns
assessing recurrence risks
facilitating genetic testing if desired
discussing reproductive options
Last updated: 10/7/2016
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