When to Seek Genetic Counseling

Genetic counseling is a professional assessment of a person's or couple's risk factors regarding their family history, medical history, and/or pregnancy history. The goal of genetic counseling is not only to assess risk, but also to explain the cause and inheritance of a disorder, the availability of testing, the prognosis, medical management, and treatment. Genetic counseling sessions typically last one hour or longer, depending on the complexity of the case. Genetic counseling can be provided by a geneticist, by a doctor with special training and Board Certification in genetics, or by genetic counselors. Genetic counselors have a minimum of a master's degree in genetic counseling or a related field, which includes extensive training in human clinical genetics and counseling. The American Board of Genetic Counseling offers a certification examination for this discipline every year.

The following lists potential reasons to seek a referral for genetic counseling and/or genetic evaluation with a genetic doctor.

Family history factors:

  • Previous child or family history of:

    • Intellectual disability

    • Neural tube defects, such as spina bifida

    • Chromosome abnormalities, such as Down syndrome

    • Cleft lip or palate

    • Heart defects

    • Short stature

    • Single gene defects, such as cystic fibrosis or PKU

    • Hearing or visual impairments

    • Learning disabilities

    • Psychiatric disorders

    • Cancers

    • Multiple pregnancy losses, such as miscarriages, stillbirths, or infant deaths

    • Other disorders which could be considered genetic

  • Either parent with an autosomal dominant disorder, or any disorder seen in several generations

  • Both parents are carriers for an autosomal recessive disorder, diagnosed either by the birth of an affected child or by carrier screening

  • Mother is a known or presumed carrier of an X-linked disorder, such as hemophilia

  • Either parent is a known carrier of a balanced chromosome abnormality

Pregnancy factors:

  • Maternal age 35 years or greater at delivery

  • Maternal serum screening indicating an increased risk for neural tube defects, Down syndrome, or trisomy 18

  • Abnormal prenatal diagnostic test results or abnormal prenatal ultrasound examination

  • Maternal health factors, such as:

    • Schizophrenia

    • Depression

    • Seizures

    • Alcoholism

    • Diabetes

    • Thyroid disorder

    • Others in which birth defects may be associated either with the disease process or with common medications prescribed for the disease

  • Fetal or parental exposure to potentially teratogenic, mutagenic, or carcinogenic agents, such as drugs, chemicals, radiation, or infection

  • Advanced paternal age at the time of conception

  • Infertility cases where either parent is suspected of having a chromosome abnormality

  • Couples requiring assisted reproductive techniques to achieve a pregnancy, or individuals donating eggs or sperm for those purposes

Other factors:

  • People in specific ethnic groups or geographic areas with a higher incidence of certain disorders, such as Tay-Sachs disease, sickle cell disease, or thalassemias

  • Extreme parental concern or fear of having a child with a birth defect

  • Cases of consanguinity (parents are blood relatives) or incest where a pregnancy is involved

  • Premarital or preconception counseling in couples at high risk for genetic disorders based on family or personal medical history

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