Our Approach to Reproductive & Medical Genetics
One of the nation’s most recognized prenatal diagnosis programs, among the few of its kind integrated within a department of obstetrics and gynecology, Montefiore Einstein Reproductive and Medical Genetics is an internationally recognized leader, specializing in comprehensive genetic testing, evaluation and counseling services for individuals and families concerned about the risk of passing on genetic and hereditary conditions when having a child. We’re ranked in the top 1% of all U.S. hospitals for obstetrics and gynecology, and are among the highest performing hospitals in the nation for maternity care, according to U.S. News & World Report.
Our multidisciplinary team of world-renowned physicians—among a select few nationwide who are double board certified in obstetrics and gynecology and medical genetics—works closely with genetic counselors, neonatologists and specialists across maternal-fetal medicine, complex family planning, reproductive endocrinology and infertility, medical and gynecologic oncology, pediatrics and cardiology to provide seamless, coordinated care and unparalleled expertise in reproductive and genetic medicine. We are also integrated with the Children’s Hospital at Montefiore Einstein Pediatric Genetic Medicine—one of the nation’s first and best-known programs—which has been leading the way in genetic and genomic disease care for more than fifty years and continues to serve as a model for the field.
Our state-of-the-art Program integrates the latest advances in prenatal diagnosis with compassionate genetic counseling and personalized reproductive planning to empower informed decision-making, reduce genetic risk and enable preventative and interventional strategies to optimize outcomes before, during and after pregnancy. We also provide balanced counseling and treatment recommendations for individuals with familial inherited genetic mutations associated with increased cancer risk.
Global Leaders in Reproductive & Medical Genetics
At the forefront of academic research, education and clinical care, we offer the most advanced diagnostics—including next-generation sequencing, artificial intelligence (AI) and bioinformatic analysis—enabling the accurate and timely diagnosis of a broad range of genetic diseases and fetal conditions, from chromosome abnormalities and hereditary cancer syndromes to single-gene disorders. Using precise genetic diagnoses, we develop individualized care plans, guide family planning and prognostic counseling, tailor treatments and identify advanced therapeutic options to optimize health outcomes. Through personalized genetic counseling, we empower patients to understand their genetic risks and reproductive options, supporting informed, proactive decision-making before, during and after pregnancy.
Our team includes internationally recognized leaders and genetic counselors who provide individualized cancer risk assessment. We offer a full spectrum of next-generation genetic testing, risk assessment and balanced counseling. Our Program also provides management and treatment strategies that are evidence-based for cancer genetics.
Leading-Edge Genomic Testing for Hereditary Gynecologic Cancer Syndromes
We offer the latest hereditary breast and ovarian cancer (HBOC) panel testing—including BRCA1 and BRCA2 analysis—to assess inherited risk for breast, ovarian and related gynecologic cancers. These advanced genomic tests enable individualized risk assessment, targeted surveillance, early intervention and personalized preventative care strategies—empowering women and families to make informed decisions about their health and future. Results can guide enhanced screening protocols, lifestyle modifications, risk-reducing medications or surgeries and coordinated long-term care—designed to detect cancer earlier or reduce the likelihood of its development.
Advanced Diagnostics & Treatments
Our comprehensive, precision-driven Program integrates the most advanced prenatal genetic screening, carrier testing and preconceptional and perinatal diagnostics with compassionate genetic counseling and personalized reproductive planning—empowering informed decision-making, reducing genetic risk and enabling preventative and interventional strategies to optimize outcomes before, during and after pregnancy.
We use state-of-the-art screening and diagnostic technologies, including advanced fetal imaging such as 3D and 4D obstetrical ultrasound, fetal echocardiography and fetal magnetic resonance imaging (MRI). Some of the advanced noninvasive preconception and prenatal genetic testing we offer includes carrier screening before and during pregnancy, quadruple and penta screening, cell-free deoxyribonucleic acid (DNA) analysis, early risk assessment and massively parallel sequencing for noninvasive prenatal DNA testing (NIPT). For prenatal diagnosis using minimally invasive techniques, we specialize in performing chorionic villus sampling (CVS), amniocentesis and cordocentesis to collect fetal cells, advanced preimplantation genetic testing and sophisticated blastocyst biopsy to support accurate preimplantation embryo diagnostics and optimize reproductive outcomes.
Our team of world-renowned specialists offers personalized genetic counseling—evaluating family history, identifying potential risks and providing individualized guidance on reproductive planning and cancer prevention. We empower individuals and couples to make informed decisions about reproductive choices, antenatal care, delivery planning, postnatal preparedness and future family building. All genetic testing decisions are guided by evidence-based, shared decision-making, incorporating each patient’s family history, obstetric ultrasound findings and personal values and preferences. Our multidisciplinary approach ensures that each patient receives precise, informed and individualized genetic and reproductive care.
Rigorous Standards. Advanced Diagnostics. Reproductive Results.
Our on-site state-of-the-art laboratories perform thousands of genetic and genomic tests and procedures each year, spanning the complete spectrum of diagnostic testing, and applying the highest standards of safety, accuracy and identity protection. Montefiore Einstein is recognized as having one of the leading laboratories in the nation for genetic and genomic testing—delivering exceptional accuracy, innovation and the highest quality patient care.
Our laboratories are accredited, certified and licensed by numerous accrediting and regulatory agencies, including Clinical Laboratory Improvement Amendments (CLIA), the New York State Department of Health, the U.S. Food and Drug Administration (FDA) and the College of American Pathologists (CAP)—the global standard for quality and performance and the highest accreditation standard in laboratory practice.
We offer the full spectrum of advanced preconception and prenatal diagnostics and services, including:
- Carrier screening (basic, targeted and expanded panels): screening for inherited conditions, such as cystic fibrosis, Tay-Sachs disease and sickle cell anemia, and comprehensive testing that screens hundreds of genes
- Chromosomal analysis: karyotyping and chromosomal microarray analysis to detect structural and numerical chromosomal abnormalities
- Genetic testing for known conditions: targeted testing for individuals with a personal or family history of specific inherited genetic conditions, including cancer
- Preimplantation genetic testing (PGT): specialized testing of early embryos before implantation to identify genetic conditions, including single-gene disorders (PGT-M), structural chromosome rearrangements (PGT-SR) and whole chromosome abnormalities (PGT-A)
- Carrier screening (screening for inherited genetic conditions)
- Prenatal screening via cell-free DNA (cfDNA) for common aneuploidies (trisomy 21, 18, 13) and sex chromosome anomalies and 22q11 microdeletion syndrome
- Nuchal translucency (NT) ultrasound, and second-trimester serum markers to assess the risk for Down syndrome, trisomy 18 and open neural tube defects
- Quadruple screening (Quad screen): second-trimester maternal serum screening
- Fetal ultrasound (3D and 4D)
- Fetal echocardiography
- Amniocentesis: An invasive diagnostic procedure typically performed between 15 and 20 weeks of gestation—though it may be done later when indicated—to analyze amniotic fluid for prenatal diagnosis
- Chorionic villus sampling (CVS): An invasive diagnostic procedure typically performed between 10 and 13 weeks of gestation to analyze placental tissue for prenatal genetic testing
- Fetal blood sampling (cordocentesis)
- Karyotype, fluorescence in situ hybridization (FISH), and chromosomal microarray analysis
- Next-generation sequencing (NGS), including whole exome sequencing (WES) and whole genome sequencing (WGS)
- Emerging technologies, such as noninvasive fetal exome sequencing and rapid genome sequencing for complex prenatal diagnoses
- Targeted gene panels and testing for known familial variants
- Elective diagnostic counseling: available for individuals who seek definitive prenatal diagnosis regardless of screening outcomes
- Family history review
- Personalized risk assessment
- Psychosocial support
- Reproductive planning
For individuals with personal or family histories of hereditary cancer syndromes (e.g. hereditary breast and ovarian cancer syndrome—BRCA1/2 mutations, familial adenomatous polyposis, Lynch syndrome)
Research & Clinical Trials
We are leading collaborative research and spearheading numerous studies and clinical trials, including several funded by the National Institutes of Health (NIH). Through our clinical trials, our patients can access emerging technologies and innovative treatments that may otherwise be unavailable to the general public.
Our research focuses on advancing novel methods for prenatal screening, diagnostic testing and early detection, as well as developing and evaluating new modalities for diagnosis and management of hereditary cancer syndromes to inform screening, prevention strategies and genetic counseling. Through these initiatives, we aim to expand reproductive options, improve early identification of genetic conditions and optimize clinical outcomes for individuals and families affected by or at risk for genetic and hereditary conditions.
Our physician-scientists are recognized thought leaders in the field, contributing to the development of practice resources and clinical guidelines for the American College of Medical Genetics and Genomics (ACMG)—from prenatal and preconception screening for fetal chromosome abnormalities and autosomal recessive and X-linked conditions during pregnancy to the management of individuals with pathogenic variants. We also developed a novel functional variant assay designed to identify mismatch repair defects, that may help identify individuals at increased risk for hereditary cancer syndromes with a high level of precision.
In collaboration with our Department of Genetics, our basic science programs are advancing cellular and molecular research—from investigating the mechanisms responsible for birth defects in 22q11.2 deletion syndrome (22q11.2DS) to leading the nation’s largest pilot newborn screening study of its kind (ScreenPlus).
Care Navigation & Support Services
Whether you are looking for reproductive genetic counseling, prenatal diagnosis, preventative strategies or advanced management of hereditary conditions, our world-renowned team at Montefiore Einstein Reproductive and Medical Genetics is here to provide you with exceptional support, care and resources tailored to your needs.
Our full-service center offers a comprehensive range of traditional and holistic care across the full spectrum of reproductive health—from screening, prevention and diagnosis to treatment and recovery. This includes social and support services, genetic counseling and education, care navigation, mental health and wellness services and other personalized programs to meet the unique needs of each individual. Our expansive breadth of resources enables us to deliver highly specialized and coordinated care that takes into account the whole person, addressing each individual’s complex medical needs to preserve health, reduce genetic risk and optimize outcomes. Our team of compassionate and deeply knowledgeable doctors, nurses, specialists and support staff is dedicated to helping you at every step of your reproductive care journey.
Your Reproductive & Medical Genetics Team
Our multidisciplinary team of world-renowned physicians—among a select few nationwide who are double board certified in obstetrics and gynecology and medical genetics—works closely with genetic counselors to deliver comprehensive prenatal and preconception evaluation and care for individuals and families at risk for genetic and hereditary conditions. We are committed to empowering informed decision-making, reducing genetic risk and enabling preventative and interventional strategies to optimize outcomes before, during and after pregnancy. We believe that balanced counseling and risk-reduction strategies can offer the best approach to preventing certain cancers.
Susan D. Klugman, MD
Sara S. Rabin-Havt, MD
About Reproductive & Medical Genetics Conditions
Reproductive and medical genetics conditions encompass a broad range of inherited or de novo (spontaneously occurring) genetic disorders that may affect fertility, pregnancy, fetal and newborn health and development, and long-term outcomes—including adult-onset genetic conditions and hereditary cancer risk. Some genetic conditions are inherited and can be passed from one or both parents to a child through identifiable familial genetic mutations. Others arise de novo, resulting from new or spontaneous genetic mutations that are not inherited from either parent. Reproductive and medical genetics consultations may be appropriate for individuals or couples with a personal or family history of genetic conditions, birth defects, infertility, recurrent pregnancy loss, or hereditary cancer syndromes—as well as for those undergoing assisted reproductive technologies or with fetal anomalies identified on prenatal ultrasound. Advances in prenatal genetic testing, counseling, and perinatal care now allow many genetic conditions to be identified and managed before or during pregnancy—enabling informed reproductive decision-making, tailored risk-reduction strategies, and personalized care planning to optimize outcomes.
Conditions We Diagnose & Manage
We provide comprehensive diagnosis and management across a broad spectrum of genetic and hereditary conditions. Some of these include:
Inherited Genetic Conditions
These conditions are passed from parent to child through familial genetic mutations.
- Hereditary breast and ovarian cancer syndrome (BRCA1/BRCA2 mutations)
- Familial cancer analysis and risk counseling for other cancers such as colorectal, endocrine tumors, prostate cancer and others
- Lynch Syndrome (hereditary nonpolyposis colorectal cancer)
- Li-Fraumeni syndrome
- Familial adenomatous polyposis (FAP)
- Cowden syndrome
De Novo Genetic Conditions
These conditions result from new or spontaneous genetic mutations that are not inherited from either parent. The below conditions most often arise de novo.
Some of the reasons to consider a reproductive and medical genetics consultation include:
- Personal or family history of a genetic disorder in individuals who are currently pregnant or considering pregnancy
- Known or suspected genetic disorders in one or both partners
- Family history of genetic disorders, birth defects or infertility
- Fetal anomalies identified by prenatal ultrasound during a current or prior pregnancy
- Personal or family history of hereditary cancer syndromes
- Use of assisted reproductive technologies (ART) or recurrent IVF failure
- Male factor infertility
- Female factor infertility associated with suspected genetic or chromosomal abnormalities (e.g. primary ovarian insufficiency, Turner syndrome)
- Unexplained infertility
- History of recurrent pregnancy loss, preterm birth or stillbirth
- Consideration of multifetal pregnancy reduction
- Advanced maternal age
- High-risk pregnancy
