When to seek genetic counseling

What kind of training does a genetic counselor have?

Genetic counselors have a minimum of a master's degree in genetic counseling or a related field, including extensive training in human clinical genetics and counseling. The American Board of Genetic Counseling (ABGC) offers a certification examination for this discipline.

What family factors suggest the need for genetic counseling?

We recommend that prospective parents speak with a genetic counselor if either parent has an autosomal dominant disorder (any disorder seen in several generations) or is a known carrier of a balanced chromosome abnormality. Also, we recommend a session if both parents are carriers for an autosomal recessive disorder or if the mother is a known or suspected carrier of an X-linked disorder (hemophilia, for example).

Having a previous child with, or a family history of the following are also reasons to seek genetic counseling:

• mental retardation neural tube defects (such as spina bifida)
• chromosome abnormalities (such as Down syndrome)
• cleft lip/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 (miscarriages stillbirths or infant deaths)

What pregnancy factors suggest the need for genetic counseling?

• maternal age of 35 years or greater at the time of 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
• other maternal factors including:
  • schizophrenia
  • depression
  • seizures
  • alcoholism
  • diabetes
  • thyroid disorder
• other diseases in which birth defects are associated with the disease 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

Are there any other reasons to seek genetic counseling?

Yes. People of certain ethnic groups and geographic areas are at greater risk for certain genetic disorders. People of Eastern European Jewish descent are at risk for having a baby with Tay Sachs disease, and people of African descent are more likely to have a baby with sickle cell disease. Genetic counseling is also recommended in cases of consanguinity (parents are blood relatives) and incest.