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Women's Care

Genetic Counseling

Though most babies are born healthy, there is a 3-4% chance in any pregnancy for a baby to have some type of birth defect. Many couples wonder if there are factors in their health or family history that increase this chance. 

Genetic counselors are specially trained professionals who can evaluate a couple’s family and medical histories to determine if there is an increased chance for birth defects or inherited conditions. The genetic counselor can thoroughly explain the benefits, limitations and accuracy of any available tests. They can also discuss the appropriate timing of the tests and test procedures, including any risk to a developing baby. 

Genetic counseling is a process of providing information and educating parents, in a balanced and complete manner. The genetic counselors at the Division of Maternal Fetal Medicine support a couple’s right to choose what testing, if any, is appropriate for them. 

Reasons To Be Referred for Genetic Counseling Either Before or During Pregnancy:

• Maternal age will be 35 or over at the time of delivery

• Abnormal AFP blood test or ultrasound examination results 

• Family history of mental retardation or developmental disability 

• Family history of a structural birth defect such as a cleft lip/palate, neural tube defect, clubfoot, or congenital heart defect

• Known familial chromosomal abnormality

• Known hereditary conditions in the family and/or questions about recurrence risks

• Ethnic background associated with an increased chance for certain conditions, including Jewish, African-American, Asian or Mediterranean ancestry 

• Prenatal exposure to potentially harmful substances – for example alcohol or recreational drugs, radiation, chemicals, or certain medications 

• Blood relation between the couple

• Hereditary condition in the mother, for example PKU or homocystinuria

When the reason for genetic counseling is a family history of a genetic condition, it is helpful to have medical records documenting the specific diagnosis whenever possible. This allows the genetic counselor to provide the most accurate risk assessment and can help determine the most appropriate tests.

Return to main High Risk Obstetrics page

Health Information

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