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300 Longwood Avenue
Boston, MA 02115
(617) 355-6000
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My Child Has:
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When to Seek Genetic Counseling
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Genetic counseling is a professional assessment of a person or couples risk factors regarding their family history and/or a pregnancy. The goal of genetic counseling is not only risk assessment, but also to explain the cause and inheritance of a disorder, the availability of testing, the prognosis, medical management and treatment. Genetic counseling sessions typically last one hour or longer, depending upon the complexity of the case.
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Genetic counseling can be provided by a geneticist, a physician with special training and Board Certification in genetics, or by genetic counselors. 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 every three years.
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The following lists reasons to seek a referral for genetic counseling and/or genetic evaluation with a genetic physician:
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- Family history factors
Previous child with, or family history of:
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)
- other disorders which could be considered genetic
- either parent with an autosomal dominant disorder, or any disorder seen in several generations
- both parents carriers for an autosomal recessive disorder, diagnosed either by the birth of an affected child or by carrier screening
- motheris 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 factors such as:
schizophrenia
- depression
- seizures
- alcoholism
- diabetes
- thyroid disorder
- 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
persons 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 in 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
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Contact Children's Hospital Boston Cardiovascular Program physicians for a second opinion.
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The information on this website should not be taken as medical advice, which can only be given to you by your personal health care professional. |
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Copyright © Children's Hospital Boston. All rights reserved. |
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