When to Seek Genetic Counseling

Genetic counseling gives you information about health concerns that run in your family. It includes a review of family history, health history, and/or pregnancy history. The goal of genetic counseling is to:

• Check your risk for having a baby with possible health problems
• Explain the cause of a health problem and how it is passed on
• Discuss what tests are available
• Figure out the outlook of a health problem
• Manage your health needs
• Treat a health problem

Counseling sessions usually last about an hour. But sessions can vary based on your specific health and family history. Genetic counseling can be given by:

• A person with special training in genes and how they work (geneticist)
• A board certified genetics doctor with special training in genetics
• Genetic counselors

You may get genetic counseling for any of the following

Family history factors

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Family history factors mean health issues that run in families. You may need this if you had a previous child born with:

• Intellectual disability
• Neural tube defects, such as spina bifida
• Chromosome abnormalities, such as Down syndrome
• Cleft lip or palate
• Heart problems
• Short height
• Single gene defects, such as cystic fibrosis or PKU
• Hearing or vision problems
• Learning disabilities
• Mental health problems
• Cancers
• Other problems that could be considered genetic

You may also need this counseling if:

• You have had multiple pregnancy losses. These include miscarriages, stillbirths, or infant deaths.
• You or your partner has an autosomal dominant disorder, or any disorder seen in several generations.
• Both you and your partner are carriers for an autosomal recessive disorder. This may be diagnosed by the birth of an affected child or by carrier screening.
• The mother is a known or presumed carrier of an X-linked disorder, such as hemophilia.
• Either you or your partner is a known carrier of a balanced chromosome abnormality.

Pregnancy factors

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These include:

• Mother is age 35 or older at delivery
• Mother’s serum screening shows an increased risk for neural tube defects, Down syndrome, or trisomy 18
• Abnormal prenatal diagnostic test results or ultrasound exam
• Baby or parent being exposed to potentially harmful things, such as drugs, chemicals, radiation, or infection
• Older age of the father at the time of conception
• Infertility cases where either parent is thought to have chromosome abnormality
• Couples that need fertility treatments to get pregnant or people donating eggs or sperm for those purposes

Some health issues that affect the mother also may affect the fetus or child. These include:

• Schizophrenia
• Depression
• Seizures
• Alcoholism
• Diabetes
• Thyroid disorder

Other factors

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You may also need counseling for any of these things:

• You are a member of certain ethnic groups. Or you live in areas where certain diseases are more common. These include cystic fibrosis, Tay-Sachs disease, sickle cell disease, and thalassemias.
• You are very worried or fearful of having a child with a birth defect.
• The pregnancy involves blood relatives or incest.
• Your child may be at high risk for a genetic disorder based on your family or your personal health history. You may want to get premarital or preconception counseling.