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Pre-Pregnancy Screening and Carrier Screening

geneticscreeninggenomeThere are certain gene mutations that can be carried, that may not affect the individual carrier, but that can be passed along to offspring.  When someone is a carrier, they have a gene mutation on one copy of the gene, but the other copy is normal; so that person is typically without symptoms or health problems.  If both parents are carriers, an infant has a 25% chance of inheriting both gene mutations, and therefore being affected by the condition.

Some of these genetic conditions can be tested in the parents, before attempting pregnancy. Testing of a few of the more common conditions (Cystic Fibrosis, Fragile X Syndrome, and Spinal Muscular Atrophy) is recommended for all patients by professional organizations such as American Congress of Obstetricians and Gynecologists (ACOG) and American College of Medical Genetics and Genomics (ACMG).  There are other recommendations that are specific for certain ethnicities, such as African American, Mediterranean, or Ashkenazi Jewish.

 Testing Recommended for All Patients               Ethnicity Specific Testing

 For more information about the conditions visit GoodStart Genetics