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Pediatric Genetic Evaluation, Counseling, Confidentiality and More

Medical Genetics FAQ

We offer prenatal testing as well as genetic screening, diagnosis and counseling services for pediatric and adult patients. Our experts works closely with specialists from pediatrics and obstetrics. We have an outstanding team of board-certified professionals that specialize in clinical and molecular genetics as well as genetic counseling. 

 

Why are genetic evaluation and counseling important?

It is estimated that 2-3% of all pregnancies result in a child with a birth defect, intellectual disabilty or genetic disease. Although many of these problems are obvious at birth, some become evident later in childhood or in adulthood. Common reasons for a referral to medical genetic services include:

  • When a child or adult has a medical or a learning problem, a genetic evaluation may be recommended to determine the cause and to help both the patient and the family adjust to the condition. 
  • When a pregnant woman is concerned about the possibility of having a child with a serious medical condition, genetic counseling and testing may be advised to further assess that possibility. 
  • When someone belongs to an ethnic group known to have a higher incidence of a certain genetic disease

What is a genetic evaluation?

  • A typical genetic evaluation starts by meeting with a counselor to discuss the reason for referral, the patient and family's concerns, and relevant family and medical history. A medical geneticist performs an examination followed by a discussion between the genetics team, patient and family about the possible diagnosis and recommended tests and referrals.
  • The evaluation and diagnosis will also include a prognosis and other discussions about heredity and reproductive options.

Who can benefit from a genetic evaluation?

  • Children or adults with birth defects such as cleft lip/cleft palate, congenital heart defects or other physical malformations
  • People with unexplained intellectual disabilty, developmental delay or growth problems
  • Individuals with known or suspected genetic conditions such as muscular dystrophy, sickle-cell anemia or Down syndrome

What is genetic counseling?

During a genetic counseling session, a counselor will discuss the reasons for referral, any concerns the patient may have and family history. In many cases, blood tests can assess the risk for certain conditions. Medical procedures may be recommended during pregnancy. Prenatal diagnosis may provide important information.

 

Who can benefit from genetic counseling?

  • Pregnant women and women planning a pregnancy who are in their mid-thirties and older
  • Pregnant women with abnormal screening tests or ultrasound results
  • Women who have been exposed to certain drugs or medications during pregnancy
  • Women with medical conditions such as diabetes, seizure disorders or lupus
  • Individuals in ethnic groups that have a higher risk of certain genetic diseases, such as Tay-Sachs disease, sickle cell anemia, thalassemia and cystic fibrosis.

Are laboratory tests covered by my insurance?

A genetic evaluation frequently involves specific blood tests or other procedures. Maimonides uses several off-site laboratories for genetic testing. Every effort is made to send tests to a laboratory that participates in your medical insurance plan. Any necessary exceptions will be discussed with you prior to ordering the test.

 

What about confidentiality?

All records and diagnostic results are kept in the strictest confidence by the Division of Medical Genetics. Your records, or those of your child, will not be released or discussed with anyone without your consent.