Jewish Genetic Screening

What you should know about Jewish genetic screening at New York Fertility Services

All persons with Jewish ancestry, even interfaith couples, benefit from a blood test to assess the risk for inheritable genetic disease in their children. Preconception carrier testing quickly and affordably analyzes DNA and the results can give you peace of mind or an actionable plan should both partners test positive for autosomal recessive conditions. New York Fertility Services recommends Jewish genetic screening.

Autosomes are the 22 pairs of chromosomes unique to each individual, with one autosome inherited from the mother, and one from the father.

Autosomal recessive disorders require a copy of the same defective gene from both parents in order for the child to develop the active disease. Jewish genetic screening targets autosomal recessive disorders commonly found in this population.

A genetic disease carrier has one copy of a gene mutation in his or her chromosomal pairs, but does not have the active disease.

A family medical history may alert you to the presence of inheritable disorders, but many parents are unaware of the risks, and may be symptomless carriers. In fact, nearly half of all Ashkenazi Jews in this country carry at least one Jewish genetic disease such as Tay-Sachs.

New York Fertility Services Medical Director Dr. Joel Batzofin explains the inherent risk of inheritable genetic disease:

When two people conceive a child, and they are both carriers of a defective gene:

• There is a 1 in 4, or 25 percent, chance that the child will have the active disease.
• There is a 50 percent chance of that child carrying the defective gene.
• There is a 25 percent chance that the child will have neither the defective gene nor the disease.

The Jewish genetic screening process

New York Fertility Services enlists third-party laboratories for inheritable genetic disease testing. We collect a blood sample from one partner at our Manhattan fertility clinic and submit it for testing. If the results return with a gene mutation from one partner, we will test the second partner.

CarrierMap searches an individual’s DNA for 200 genetic conditions, including 50 genetic conditions seen in individuals of Jewish ancestry/heritage. We recommend the expanded carrier screening rather than limiting the test to a 19-disease panel.

Autosomal recessive disorders that affect people of Jewish ancestry, from an Ashkenazi, Sephardic, Mizrahi or Pan-ethnic background, include:

  • Alpha Thalassemia
  • Beta Thalassemia
  • Canavan disease
  • Gaucher disease
  • Tay-Sachs

Ancillary testing is required to arrive at a conclusive diagnosis for these autosomal recessive disorders:

  • Alpha Thalassemia
  • Beta Thalassemia
  • Tay-Sachs

Preimplantation genetic diagnosis after Jewish genetic screening

Dr. Batzofin provides an advanced treatment option for couples planning a pregnancy after Jewish genetic screening reveals that both carry a defective gene. Preimplantation genetic diagnosis, or PGD, positions us to transfer only unaffected, chromosomally normal embryos in an IVF cycle.

The embryo biopsy is performed in the IVF lab on Day 3 after fertilization. We collect a single cell from the developing embryo and create genetic probes to search the DNA for single gene defects (as determined by previous Jewish genetic screening). We transfer the embryos on Day 5, or cryopreserve and schedule embryo transfer for future cycle. Research supports the use of PGD, and shows no adverse effects to the embryo or developing fetus.

If you would like to learn more about PGD or Jewish genetic screening, our New York fertility clinic offers educational events and complimentary consultations during our genetic screening events. Contact us for upcoming dates and materials that will assist you in your decision.