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Understanding Infertility

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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.