INDIANA — Health experts are urging prospective and expecting parents to gather detailed family health histories for both partners, highlighting that genetic conditions, birth defects, and developmental disabilities can be passed down even when parents show no symptoms.
Learning about health backgrounds early allows couples to consult with healthcare providers before or during pregnancy to guide testing options and care strategies.
Understanding Carrier Screening
Parents can pass on a genetic condition without having it themselves if both carry a single non-working copy of a gene. To assess these risks, healthcare providers frequently offer carrier screening.
Current clinical guidelines recommend carrier screening for several conditions based on patient profile and heritage:
- Universal Screening: Recommended for all women for cystic fibrosis and spinal muscular atrophy, alongside checks for blood disorders such as sickle cell disease and thalassemia.
- Targeted Screening: Recommended for women with a family history of Fragile X syndrome or intellectual disabilities.
- Ancestry-Based Screening: Recommended for individuals of Ashkenazi Jewish, French-Canadian, or Cajun descent for specific conditions, including Tay-Sachs and Canavan disease.
When to Seek Genetic Counseling
A primary care provider may recommend specialized genetic counseling based on family medical history. Additional triggers for a referral include:
- A history of infertility or two or more miscarriages
- A previous pregnancy or a child affected by a birth defect or genetic condition
- The loss of a child under one year of age
Steps for Prospective Parents
Health officials advise individuals to gather diagnostic test results and specific medical histories from relatives—using tools like the online My Family Health Portrait – and share them with their physician.
Disclosing past miscarriages, stillbirths, or neural tube defects like spina bifida can significantly alter prenatal care recommendations, such as prescribing higher daily doses of folic acid prior to conception.
