Genetic Screening

Protect the Next Generation with Preconception Testing, Genetic Screening

Capture5JPGGenetic screening provides valuable information about risk factors and predictors for conceiving a healthy baby. Advances in gene mapping allow for affordable, quick access to your genetic roadmap, and the likelihood of passing on inheritable genetic conditions to your baby.

At New York Fertility Services, we recommend preconception testing for all people, not just infertility patients, who plan to start a family.

Genetic Screening Empowers You to Know Your Carrier Status

Preconception testing, or carrier testing, identifies gene alterations that occur on an individual’s 22 non-sex chromosomes.

An autosomal recessive disorder requires two copies of the gene, one from each parent, for the disease to occur in their offspring. Unknowing, symptomless carriers of genetic disease can conceive a child together, and pass on the active disease or trait.

For example, when both partners carry the defective gene for Tay Sachs disease and have a baby — without taking preventative action:

There is a 25 percent chance the baby will have the active disease (2 abnormal genes).

There is a 50 percent chance the baby will be a carrier of the disease (1 abnormal, 1 normal gene).

There is a 25 percent chance the baby will not have or carry the disease (2 normal genes). 

There are more than 2,000 different diseases that we can test for, but our fertility center tends to focus on life-altering or life-threatening conditions:

  • Bloom Syndrome
  • Canavan Disease
  • Cystic fibrosis
  • Familial Dysautonomia (FD)
  • Fanconi Anemia Type C
  • Fragile X syndrome
  • Gaucher Disease
  • Glycogen Storage Disease Type 1a
  • Mucolipidosis Type IV
  • Niemann-Pick Disease Type A
  • Sickle Cell Anemia and Hemoglobin C
  • Spinal Muscular Atrophy (SMA)
  • Tay Sachs Disease

Who should consider genetic testing? Anyone planning to have children, but particularly those with a family history of genetic disease or those from specific ethnic backgrounds:

  • Ashkenazi Jewish Ancestry
  • Caucasian (Non-Ashkenazi Jewish ancestry)
  • French Canadian and Cajun Ancestry
  • Mediterranean Ancestry
  • Asian Ancestry
  • African American Ancestry

How Genetic Screening Works, and Next Steps for a Positive Result

A blood or saliva sample will reveal comprehensive information that a fertility specialist needs to know to either 1) put your mind at ease or 2) make a proactive plan.

Even if both partners are genetic disease carriers, you have options. Today’s advanced reproductive technology includes an IVF laboratory technique to identify unaffected embryos prior to transfer in an IVF cycle. The New York Fertility Services team is experienced at preimplantation genetic diagnosis PGD and preimplantation genetic screening PGS.

We also work with genetic counselors to help couples and individuals make decisions about whether to conceive with fertility treatment options, or consider adoption or child-free living.

Think of genetic screening as a safety net for your baby-to-be. Contact the reproductive medicine experts at New York Fertility Services to learn more about genetic screening prior to starting your family.