Genetic Counselling

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.

Family history factors:

• Previous child or family history of:
      o    Intellectual disability
      o    Neural tube defects, such as spina bifida
      o    Chromosome abnormalities, such as Down syndrome
      o    Cleft lip or palate
      o    Heart defects
      o    Short stature
      o    Single gene defects, such as cystic fibrosis or PKU
      o    Hearing or visual impairments
      o    Learning disabilities
      o    Psychiatric disorders
      o    Cancers
      o    Multiple pregnancy losses, such as miscarriages, stillbirths, or infant deaths
      o    Other disorders which could be considered genetic
• Either parent with an autosomal dominant disorder, or any disorder seen in several generation.
•  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:
      o    Schizophrenia
      o    Depression
      o    Seizures
      o    Alcoholism
      o    Diabetes
      o    Thyroid disorder
      o    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.