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Prenatal
(and Preconception) Genetic Counseling and Consultation Services
What is Genetic
Counseling?
Genetic
counseling is a consultation with a specially trained health
care provider. The discussion includes information about the
risk for a genetic condition or birth defect. The goal of the
discussion is to help a person, couple or family understand
possible risks, as well as available testing and management
options. A genetic counselor provides individualized counseling
and will discuss any concerns that individuals, couples or
families may have for themselves, their children, or their
pregnancies.
What may happen during a
prenatal genetic counseling session?
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The reason for your visit is discussed.
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Your family, medical and pregnancy histories
are reviewed.
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Both family-specific and standard general
population risks for the fetus are considered and evaluated
in order to estimate your risk for having a child affected
with a birth defect or a genetic condition. Any identified
risk factors will be discussed.
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Information about available testing options,
including the risks, benefits and limitations of each test,
is discussed.
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You are provided with the opportunity to ask
questions about any genetic concerns you may have.
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Based on your knowledge and judgment, you
decide whether to have any genetic testing.
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The decision to pursue or decline any genetic
procedure or testing is entirely yours.
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Options for
ethnicity-based carrier testing for couples may be
reviewed. Carrier screening available to couples in the
pre-conception or prenatal periods include (but is not
limited to):
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Ethnicity |
Testing |
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Caucasian |
Cystic fibrosis |
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African-American, Southeast Asian
Mediterranean, Middle Eastern |
Hemoglobinopathies (including Sickle cell disease and
alpha- & beta-Thalassemia) |
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Ashkenazi Jewish |
Cystic fibrosis, Tay-Sachs disease,
Canavan disease, Gaucher disease, Familial dysautonomia,
Fanconi anemia type C, Niemann-Pick disease type A,
Bloom syndrome, Mucolipidosis IV (new: Glycogen
Storage Disease Type 1A and Maple Syrup Urine Disease) |
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French Canadian |
Cystic fibrosis, Tay-Sachs disease |
How does the genetic counselor work with my doctor(s)?
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Either your
primary care doctor or a specialist can refer you for
genetic counseling. You can also refer yourself if you have
any concerns.
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After the
genetic counseling session, the genetic counselor sends a
summary report to your doctor(s).
Who should
consider prenatal genetic counseling?
(PLEASE
NOTE: This list is meant to provide examples and may not include
every possible indication for referral for genetics services.)
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Women who
will be 35 years or older at the time of delivery
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Men who will
be 40 years or older at the time of delivery
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Anyone with
maternal blood testing that indicates an increased risk for
Down syndrome, trisomy 18 or spina bifida.
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Anyone with
abnormal or suspicious fetal ultrasound findings
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Anyone with
positive carrier screening for common conditions, like
cystic fibrosis or sickle cell anemia.
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Anyone with
a family history of a birth defect, handicap, mental
retardation or genetic condition
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Anyone who
is concerned that a job, lifestyle or medical history may
pose a risk to a pregnancy (examples: exposure to infection,
medicines, chemicals, alcohol or street drugs).
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Anyone with
two or more unexplained miscarriages or early infant deaths
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Anyone with
infertility issues that may have been caused by a genetic
abnormality
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Couples who
are first cousins or other close blood relatives
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Anyone who
is planning a pregnancy and wants a genetic consultation
prior to conception.
Locate genetics services in New Jersey
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