Family Health History and Planning for Pregnancy

interracial young couple

Thinking about having a baby? If you have a family health history that includes a birth defect, developmental disability, newborn screening disorder, or genetic condition, you might be more likely to have a baby with this condition.  Learning more about your family health history before you get pregnant can give you time to address any concerns. Remember to consider the family health history of both potential parents, not just mom. Be sure to discuss any concerns with your doctor.

Based on your family health history, your doctor might refer you for genetic counseling. Other reasons for genetic counseling include having had

  • Infertility (trouble getting pregnant),
  • 2 or more miscarriages,
  • A previous pregnancy or child with a genetic condition or birth defect, or
  • A baby who died at less than 1 year of age.

After genetic counseling, you might decide to have genetic testing for conditions that could affect your baby. Results from these tests could impact your pregnancy planning. Testing before you get pregnant can give you time to think about what the results mean for you and consider all your options.

Carrier Screening
carrier parents with four children (one non-carrier, two carrier children and on child with the disease

Parents can have a baby with a genetic condition even though neither parent has it. Babies inherit two copies of each gene, one from each parent. For some genetic conditions, the baby will only have the condition if both copies of the gene related to the condition do not work properly. In cases like these, each parent has one copy of the gene that works properly and one that does not. If the baby inherits both non-working copies of the gene, the baby has the condition. Thus, the parents are “carriers” for the condition, meaning that they don’t have the condition themselves but can have children with it.

If a genetic condition runs in your family, you might be a carrier for that condition. Likewise, you might be a carrier for genetic conditions that are more common in your racial or ethnic group. Examples include sickle cell disease in Black people and Tay-Sachs disease in people of Ashkenazi and Eastern European Jewish descent. Your doctor might ask if you want to have screening, called carrier screening, to check if you are a carrier for conditions that are more common in your racial or ethnic group. Talk to your doctor if you want to know about carrier screening for genetic conditions that run in your family, such as fragile X syndromeCurrent recommendations 1external icon state that all women should be offered carrier screening for cystic fibrosisexternal icon and spinal muscular atrophyexternal icon and should be checked for hemoglobinopathies such as sickle cell disease and thalassemia.

If the results show that you are a carrier for a genetic condition, the other parent would also need to have carrier screening to know if you could have a baby with the condition.

1 Recommendations are from the American College of Obstetricians and Gynecologists and the American College of Medical Genetics

Family Health History Checklist: Planning a Pregnancy

□ Gather family history information before seeing the doctor.

□ Use the US Surgeon General’s online tool for collecting family histories, called “My Family Health Portrait.”

□ Tell your doctor if you have any family members with a genetic condition, chromosomal abnormality, developmental disability, birth defect, newborn screening disorder, or other problem at birth or during infancy or childhood, especially if you have had a previous pregnancy or child affected by one of these conditions.

o Talk to those family members, if possible, to find out their specific diagnoses.

o Ask for a copy of their genetic or diagnostic test results, if any, to share with your doctor.

□ Alert your doctor if you have had a previous premature birth, miscarriage, stillbirth, or a child who died from sudden infant death syndrome (SIDS).

□ Follow your doctor’s recommendations. For example, if you have had a previous pregnancy or child affected by spina bifida or anencephaly, your doctor might recommend that you take a higher than normal dose of the B vitamin, folic acid, before and during pregnancy.