How Benefits of Genetic Testing for Pregnant Women??

Carrier testing for genetic conditions is available to all reproductive age women and their partners. Persons are at higher risk of being a carrier if anyone in their family has had a genetic disease or if they belong to certain ethnic groups.
For example, the following groups face increased risks for these diseases:
  • European Caucasians (cystic fibrosis)
  • Eastern European Jews (cystic fibrosis, Tay-Sachs, Canavan and familial dysautonomia)
  • Black people and people of Mediterranean descent (sickle cell anemia and thalassemia)
  • People of Southeast Asian (thalassemia)
  • French Canadians (Tay-Sachs and cystic fibrosis).
Updated guidelines from The American Congress of Obstetricians and Gynecologists (ACOG) Committee on Genetics state that "it is reasonable to offer cystic fibrosis carrier screening to all patients." The American College of Medical Genetics and Genomics also issued practice guidelines recommending that testing for spinal muscular atrophy be offered to all couples, regardless of race or ethnicity.


Newer tests, called expanded genetic carrier screenings, can detect gene mutations for Fragile X syndrome and many other rare disorders. For example, Horizon from Natera screens for up to 274 autosomal recessive and X-linked genetic conditions and generally provides the results in 10-14 business days.

Benefits of pre-pregnancy testing

Genetic carrier screening gives women and their partners valuable information to make the reproductive choices that are right for them and their families. If the results are negative, they can be reassured that the chance that their children will be born with the disorders they were screened for is extremely small.
And if a couple is at risk of having a baby with a recessive disease, they can consider various options, such as:
  • Natural pregnancy with or without prenatal diagnosis, such as chorionic villus sampling (CVS) or amniocentesis
  • Preimplantation genetic diagnosis (PGD) with in vitro fertilization (IVF) to test and then transfer embryos free of the disease that both partners carry
  • Adoption
  • Use of a sperm or egg donor.
In addition, having this knowledge before a pregnancy gives a couple enough time to learn about and prepare for having a baby that may have a specific genetic condition. The test information could also help other prospective parents in their families know that they, too, could be carriers and might benefit from a screening test.