Genetic Counseling and You!

You may have heard of genetic counseling before, but may not know exactly what it is. In this blog you can read about what genetic testing entails, what it tests for, and if you're a candidate for this test.

Genetic Counseling and You!

You may have heard of genetic counseling before, but may not know exactly what it means. Genetic counseling is a family planning process that allows you to find out if you and/or your partner carry specific genes or traits that could result in certain health conditions in your offspring. Through genetic counseling, you can understand the risk of your baby having a genetic condition if you decide to start a family. Our providers are trained in extracting your and your partner’s genetic information, and personal and family health history so that we can determine if you, your partner ,or a member of your family is a carrier for a genetic condition. Not sure if you should receive genetic counseling? Our medical team can also help consult if genetic counseling is right for you.


What is the reason for genetic counseling? 

There are a few reasons why you may want to consider genetic counseling. For starters, if you’re planning to become pregnant, going for genetic counseling can reveal any factors that may affect your ability to get pregnant. Secondly, genetic counseling identifies the tests you would need performed during your pregnancy in order to detect any problems or conditions that may arise during infancy or childhood. Lastly, genetic counseling can help address potential concerns you may have for your child from infancy to adulthood. Such testing is able to show signs and symptoms of disorders that are related to genetics including birth defects, developmental disabilities, autism, vision, or hearing problems. 


Am I a candidate for genetic counseling?

If you, your partner, or someone in either of your families know they have a condition that can be inherited, you’re a candidate for genetic counseling. Although knowing your family's medical history is important in determining if you should seek genetic counseling, you may also want to consider it if any of the following apply to you:

  • Have had ultrasounds or screening test that suggest there may be a problem
  • Have had 2 miscarriages, still-birth, or an infant who died 
  • Have had a child with a genetic disorder or a birth defect
  • Are pregnant or planning to become pregnant after the age of 35
  • Increased risk of passing a genetic disease due to a person’s ethnic background (such as Ashkenazi Jewish people


What other diseases/conditions can be found from genetic counseling?

The following diseases and conditions are commonly detected during genetic counseling but are not limited:

  • Tay-Sachs disease
  • Bloom Syndrome
  • Canavan disease
  • Cystic Fibrosis
  • Familial Dysautonomia
  • Fanconi Anemia
  • Gaucher Disease
  • Torsion Dystonia
  • Niemann-Pick Disease
  • Mucolipidosis IV


Although most of these diseases are severe and can cause early death, they can also be treated or have reduced symptoms to extend the life-span of your child. If you are worried that you or your partner may be a carrier for one of the above genetic diseases, we highly recommend coming to our Cedarhurst, NY or Lake Success, NY Long Island locations to speak with Dr. Joan Altman-Neumann or Dr. Cassandra Henderson. Our genetic test consists of a blood sample and a follow-up consultation with either Dr. Altman-Neumann or Dr. Henderson to review the results of the test. Book an appointment with our compassionate medical team of compassionate and trained professionals will be able to address any of your pregnancy risks or concerns!



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