section name header

Table 1-6

Reasons to Consider Referral for Genetic Counseling

  • Mother age 35 or older at estimated date of delivery

  • Fetal anomalies detected via ultrasonography

  • Abnormal first trimester serum/nuchal translucency screening

  • Abnormal triple/quad screening or abnormal α-fetoprotein test results

  • Parental exposure to teratogens (includes certain drugs, radiation)

  • Family history of genetic disease (includes chromosome, single gene, and multifactorial disorders)

  • Personal or family history of birth defects or mental retardation

  • Certain parental medical conditions (eg, cancer, congenital heart disease)

  • Membership in ethnic group in which certain genetic disorders are frequent when appropriate screening for or prenatal diagnosis of the disease is available (eg, sickle cell anemia, Tay-Sachs disease, Canavan disease, thalassemia)

  • Consanguinity

  • Infertility

  • Recurrent pregnancy loss

  • Stillbirth or neonatal death

  • Infant, child, or adult with dysmorphic features, developmental and/or growth delay, ambiguous genitalia, or abnormal sexual development