What to Know About Genetic and Chromosomal Conditions

Posted On: May 7, 2020 By Tamar Goldwaser, MD

Genes and chromosomes are an integral part of who we are and the things we carry on from our families. Although they’re responsible for making sure we look like our siblings and parents, they can also be responsible for factors like your health and predisposition to certain conditions. Genetic and chromosomal conditions can have a life-long effect on your baby and their health, meaning it’s important to take the right steps for screening and preparation if your maternal fetal medicine specialist believes your baby might be at risk. Here’s what to know about these conditions and how your maternal fetal medicine specialist can help. 

What are genetic and chromosomal conditions? 

Genes carry instructions in your cells for how your body should grow and function throughout your life. Chromosomes are part of the structure of your cells that carry this information. Genetic conditions caused by changes in the typical DNA sequence, sometimes called mutations, can cause life-long health conditions like sickle cell disease or cystic fibrosis. Genetic conditions are also responsible for birth defects which change the shape and function of important organs or parts of the body. On the other hand, chromosomal conditions are usually caused by a change in the number of chromosomes present during development. One of the most common chromosomal conditions is Down syndrome. 

How do I find out if my baby is at risk? 

Firstly, it can be helpful to assess your family history and your partner’s to take stock of any genetic conditions that run in your families. Additionally, certain ethnic groups can be more predisposed to genetic or chromosomal conditions. Then, you should meet with a genetic counselor who can look at your specific circumstances to decide whether you could benefit from further testing. 

What kinds of tests are available? 

A carrier test is performed via a saliva or blood test  and is a simple way to determine if your baby may be at risk of inheriting genetic conditions If you or your partner are found to be a carrier for a specific genetic condition this doesn’t necessarily mean that you have the condition, but rather have the genes for it that could be passed on. Both you and your partner can opt for this test before pregnancy. 

Screening tests that can be performed during pregnancy include cell-free fetal DNA testing, which can look at  DNA from your pregnancy for any abnormalities that might mean your baby is at risk of a condition. Then, a diagnostic test can be performed to confirm any results found by a screening. These are often called amniocentesis and chorionic villus sampling. 

After your baby is born, your maternal fetal medicine specialist can check your baby’s blood for any conditions that might be present to confirm. 

Schedule an Appointment 

The best way to get your baby the care it needs is by partnering with an award-winning team of maternal fetal medicine specialists who can provide the right testing and screening options at each stage of pregnancy. To get started, we invite you to contact our New York City office by calling or filling out our online form. 

Carnegie Imaging for Women blogs are intended for educational purposes only and do not replace certified professional care. Medical conditions vary and change frequently. Please ask your doctor any questions you may have regarding your condition to receive a proper diagnosis or risk analysis. Thank you!

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