Genetics and
Maternal-Fetal
Medicine |
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Center for Genetics and Maternal-Fetal Medicine
FAQs
What is genetic counseling?
Genetic counseling is a process by which a specialist works with women and their families who have a significant medical and/or pregnancy history for birth defects or genetic conditions. This process involves imparting information to you and facilitating your decisions about reproductive options and preventive strategies. The family, medical and pregnancy histories are reviewed. Then the tests that are appropriate are discussed in detail including: the benefits, the limitations, and the potential risks of all procedures. If it is helpful, we also recommend support groups, and assist in referring to other specialists.
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Who should consider genetic counseling and/or prenatal diagnosis?
Women 35 years of age or older, since the risk of chromosome abnormalities increases with the mother's age.
Parents who have had a child with a chromosome abnormality such as Down Syndrome, or a neural tube defect (such as spina bifida or anencephaly).
Women who have had a positive maternal serum screening test (AFP or Triple Marker Test) result for a neural tube defect, Down syndrome, or Trisomy 18.
Parents who have a family history of a genetic condition such as some forms of mental retardation, cystic fibrosis, sickle cell anemia, muscular dystrophy, tay sachs or other conditions that are rare.
Families in which one parent has a chromosome rearrangement.
Couples with a history of multiple pregnancy losses.
In certain situations, women with exposures to medications, drugs, infections, or women with certain chronic illnesses.
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What is Prenatal Diagnosis?
Prenatal diagnosis is the process of detecting certain types of birth defects and inherited disorders before a baby is born.
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Are there any special instructions?
Before the genetic counseling appointment, it would be helpful for you to find out as much about your family history as possible.
On the day of the ultrasound, CVS and/or amniocentesis procedure, it would be best to wear a two piece outfit. You DO NOT need to have a full bladder and you can eat normally before your appointment.
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Are there risks from CVS or Amniocentesis?
These are relatively safe procedures. Currently, the risks are believed to be low enough to warrant their use for the types of family situations listed above. There will be full counseling regarding specific risks and complications during your session with us.
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How long does it take to obtain chromosomal results?
A report of the chromosomal analysis generally takes 12-16 days. We choose to work with the laboratory with the highest quality standards so that all possible chromosomal disorders can be ruled out, not just Down syndrome. A longer time is sometimes necessary if the cell growth is slow, if the diagnosis involves biochemical testing, or if the cell cultures must be sent to other laboratories for specialized examination.
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What happens if an abnormality is found?
You will be notified and given a full report of all of the findings from the tests. Our goal is to aid you and your care provider (physician and/or midwife) by providing information. All information is confidential.
The philosophy and principles of our center are non-judgmental and non-directive counseling. This means that we do not tell you what to do. We will explain to you all the information about the situation and explain all of your options. We support you and the decisions that you make.
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Does the test guarantee a normal baby?
No. Even though an ultrasound examination and amniocentesis are the most complete testing available, they cannot detect all abnormalities that affect children. Many other disorders such as deafness, blindness, some heart defects, and some mental retardation cannot be determined before birth. However, the risk for each of these problems is low in the general population.
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