Fertility Care and Family Building for Orthodox Jewish Patients
Expanded Genetic Carrier Screening Panel for Ashkenazi Jewish Patients at RMA of New York – Long Island
For many Orthodox Jewish couples, genetic carrier screening is an important consideration when planning a family. Some couples undergo screening before marriage to identify overlapping recessive genes that can cause inherited genetic disorders that occur at higher frequencies among people of Ashkenazi Jewish ancestry.
If both partners carry the same recessive gene mutation, there is up to a 25% chance per pregnancy that their child will inherit the condition.
Understanding Genetic Carrier Screening
Traditional Ashkenazi Jewish genetic screening panels test for several inherited conditions, including:
- Tay-Sachs disease: A progressive, terminal neurological disorder.
- Canavan disease: A progressive neurological disorder that affects brain development and function.
- Cystic fibrosis: A genetic condition that causes thick mucus buildup in the lungs and digestive tract.
- Familial dysautonomia: A disorder affecting the autonomic and sensory nervous systems.
- Gaucher disease: A condition in which fatty substances accumulate in certain organs and tissues.
- Bloom syndrome: A genetic disorder associated with growth delays, immune system complications, and increased cancer risk.
- Fanconi anemia: A genetic disorder that can cause bone marrow failure and increases cancer risk.
- Neimann-Pick disease (Type A): A progressive condition involving the accumulation of fatty substances in cells, particularly affecting the nervous system and other organs.
- Mucolipidosis IV: A genetic disorder that can cause significant neurological and developmental impairment.
At RMA of New York – Long Island, we offer expanded genetic carrier screening that tests for more than 400 conditions. This broader panel can identify additional inherited conditions beyond those included in traditional ancestry-based screening.
Patients who have previously undergone genetic testing may choose to rely on their existing results or discuss expanded screening with their physician. For patients who wish to incorporate religious guidance into their family-building decisions, we welcome the involvement of their Rabbi or preferred religious advisor.
How IVF and PGT-M Can Help Reduce the Risk of Inherited Conditions
For couples with overlapping recessive genes for an inherited condition, Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) may be an option for reducing the risk of having an affected child.
PGT-M is performed alongside in vitro fertilization (IVF). After eggs are fertilized, we culture embryos in the laboratory until they reach the appropriate developmental stage for biopsy. We collect a small cell sample from each embryo and analyze it for the specific genetic condition identified through the parents’ carrier screening.
The embryos are typically frozen while testing is completed. Once results are available, our team can identify embryos that are not affected by the condition and determine the best embryo for transfer based on the genetic findings and other clinical considerations.
PGT-M gives couples additional information to guide their family-building decisions, to reduce the risk of passing a specific inherited condition to their child.
Culturally Responsive Fertility Care for Orthodox Jewish Patients
Genetic screening and fertility treatment can raise important medical, personal, and religious considerations. At RMA of New York – Long Island, we recognize that each patient’s needs, observances, and preferences are unique.
Dr. Michelle Goldsammler, who sees patients at our Melville and Lake Success locations, is Long Island’s only female Orthodox reproductive endocrinologist. Her clinical expertise and understanding of Orthodox Jewish traditions uniquely qualify her to provide individualized, culturally responsive fertility care.
Dr. Goldsammler and all of our providers welcome the opportunity to communicate with patients’ Rabbi or preferred religious advisor and incorporate their guidance into the treatment process whenever the patient wishes or requests it.
We are committed to helping every patient navigate fertility care with medical expertise, respect for individual beliefs, and a personalized approach to building a family.
Schedule a consultation with one of our physicians to discuss our expanded genetic carrier screening and how PGT-M can reduce the risk of passing inherited genetic conditions to your children.