Our Approach to Reproductive & Medical Genetics
The Montefiore Einstein Reproductive and Medical Genetics Program is committed to early detection. Our multidisciplinary team, which includes medical geneticists, prenatal imaging experts, and anatomic and molecular pathologists, helps parents assess the risk of passing an inherited condition to their child. Using advanced diagnostics, our team can identify genetic disorders that can cause birth defects and other medical conditions early, providing reassurance and peace of mind to patients. In addition, our genetic counselors are on hand to not only provide information but also crucial medical and emotional support to families affected by or at risk of a genetic disorder. Whether you’re considering starting a family or are already pregnant, we can offer you expert guidance, information and support.
Genetic Screening
Our comprehensive prenatal genetic screening, provided to women during pregnancy, provides a thorough understanding of the fetus's health. It offers support by helping determine if a fetus is at risk of being born with a genetic condition or congenital disability. This screening also aids in planning specialized management of the pregnancy and delivery for the best outcomes for both mother and infant.
Screenings may include:
- Carrier screening: This DNA test, which can be performed before or during pregnancy, tells parents if they carry a gene that can cause a congenital disorder.
- Cell-free DNA screening (also called noninvasive prenatal testing—NIPT): This prenatal blood test analyzes free-floating bits of DNA, known as cell-free DNA (cfDNA), from the fetus. Tests of this type screen specifically for an irregular number of chromosomes.
- Multiple marker screening (MMS): All women are offered a screening early in their pregnancy of several blood markers that can indicate increased fetal risk for certain genetic diseases and birth defects.
- Sequential screening: This procedure assesses the risk of specific genetic abnormalities and neural tube defects, such as spina bifida.
Prenatal Diagnosis
Our prenatal diagnosis services enable the early detection of a broad spectrum of fetal chromosomal abnormalities, genetic disorders, neural tube defects and infections. This proactive approach empowers parents to make responsible decisions for their child's health.
- Amniocentesis: a prenatal procedure that involves removing a small amount of amniotic fluid from the sac surrounding a fetus to diagnose genetic or chromosomal conditions
- Chorionic villus sampling (CVS): a form of prenatal diagnosis used to determine fetal chromosomal or genetic disorders
- Fetal blood sampling (cordocentesis): a prenatal procedure that takes a small amount of blood from a fetus's umbilical cord to help diagnose potential abnormalities
- Fetal ultrasound and echocardiography: a specialized ultrasound test performed during pregnancy to evaluate the position, size, structure, function and rhythm of the unborn
baby's heart
Reproductive & Medical Genetics Research
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Your Reproductive & Medical GeneticsTeam
Our multidisciplinary team of physicians, genetic counselors and research scientists utilize the most advanced approaches in genetics and reproductive medicine available today, providing a dedicated program for preventing, diagnosing and managing genetic conditions related to pregnancy.
