Women's Health Services


Women’s Genetic Screening, Testing, and Counseling

Genetic testing, the analysis of a person’s genes, can help a person learn if they, their partner or their baby may be at risk for certain medical conditions. At NewYork-Presbyterian, our expert clinical genetics specialists offer state-of-the-art genetics services for family planning, prenatal genetics evaluation, and risk assessment for hereditary breast or gynecologic cancers. Applying our vast expertise in genetic analysis and interpretation with the latest genetic testing technologies, we evaluate your risks, provide compassionate genetic counseling, and formulate a care plan tailored to your unique needs. This highly personalized approach, coupled with NewYork-Presbyterian’s unmatched genetic resources and services, equips you with evidence-based care and support to make informed decisions about you and your family’s health aligned with your personal values.

About Our Program

Our genetics team includes board-certified maternal-fetal medicine physicians with specialized education and training in clinical genetics, certified genetics counselors, nurse practitioners, and physician assistants. We closely collaborate with NewYork-Presbyterian Women’s Health clinicians to assist women in a wide range of reproductive genetics services, including family planning, pregnancy management, and evaluating and managing their lifetime risk for inherited breast and gynecologic cancers.

Preconception Screening and Family Planning

NewYork-Presbyterian offers comprehensive preconception (carrier) screening for women and their partners who are thinking about having a family and are concerned about the risk of having a child with a genetic disorder due to family history, ethnicity, or other factors. Knowing in advance about the risks for these genetic disorders can help inform your family planning decisions.

Genetic counseling is also helpful for individuals/couples who have unexplained infertility or recurrent miscarriages. For women considering in vitro fertilization (IVF), our genetics experts can explore the feasibility of performing preimplantation genetic testing  (PGT), a procedure used during IVF to help identify  chromosomal and other genetic abnormalities within embryos.

Prenatal Genetic Testing

Prenatal genetic testing gives expectant parents information about whether their fetus has a genetic disorder.  We offer a full range of prenatal genetic testing options, including non-invasive blood screening, ultrasound imaging tests, chorionic villus sampling (CVS), and amniocentesis to detect a variety of common genetic disorders such as Down syndrome, sickle cell disease, cystic fibrosis, spinal muscular atrophy, and Fragile X syndrome as well as many other rare conditions.

When a fetus is diagnosed with any congenital disabilities through ultrasound, our genetics team will complete a personalized assessment of the findings in the context of your history to determine if advanced genetic testing may be helpful to you and your doctors in your pregnancy.  Our team will explain all genetic testing options available to you to rule in or rule out a genetic diagnosis. Our team will empathically support you through the testing decisions, results disclosure, and medical management decisions.

Prenatal genetic testing is recommended if you or your partner have:

  • a family history of genetic disorders,
  • a baby with a genetic condition or birth defect in a previous pregnancy, or
  • a history of recurrent pregnancy loss.  

Prenatal genetic counseling and testing are also available if you are generally interested in learning more about your pregnancy’s genetic health.

Hereditary Breast and Gynecologic Cancer Testing and Counseling

We offer the latest comprehensive genetic testing panels and counseling for individuals with a personal or family history of breast and gynecologic cancers of the ovaries and uterus. Our experienced cancer genetic counselors will take a detailed personal and family history to provide a personalized risk assessment. Our genetics team will support your decision-making around cancer genetic testing by exploring your goals and beliefs and discussing how test results may impact your care and management.

Our Approach to Care

Comprehensive and Multidisciplinary Care Across a Woman’s Lifespan

At NewYork-Presbyterian, genetic testing and counseling are woven into many phases of women’s healthcare, including family planning, pregnancy, and managing the risk of hereditary breast and gynecological cancers. Our genetics specialists strive to form a close bond with each patient to know their medical background, concerns, and goals and offer personalized support and guidance to ensure that their decisions align with their values and beliefs. As integral members of the NewYork-Presbyterian Women’s Health team, our genetics team collaborates with obstetrician-gynecologists and specialists in reproductive endocrinology, maternal-fetal medicine, family planning, and gynecologic oncology to treat and manage genetic risks according to each patient’s unique needs. We also coordinate prenatal pediatric care for fetuses with congenital disabilities or known genetic conditions.

Receiving a genetic diagnosis or uncertain genetic results can be a difficult and confusing experience. For women and their partners coping with a genetic result and needing in-depth therapeutic support, we connect you to therapists specialized in women’s health who provide counseling and additional resources such as support groups. We help patients navigate a complex medical system and arrange any follow-up appointments with specialists. Through every phase of your care, our compassionate team provides continuous support and resources.

Beyond our clinical collaborations, our genetics team at Columbia University works directly with the genetics laboratories located at NewYork-Presbyterian, which allows the team to interpret complex genetic test results with unique expertise and to deliver them to our patients in a timely manner.

Our Services

Preconception Screening and Family Planning

Our genetic counselors provide services for patients pursuing preconception screening and family planning diagnostic procedures, including:

  • Carrier screening for an expanded number of genetic disorders such as spinal muscular atrophy, Tay-Sachs disease, sickle cell disease, thalassemia, Duchenne muscular dystrophy, cystic fibrosis, and fragile X syndrome, amongst 100s of others
  • Genetic testing and counseling for patients with infertility, recurrent pregnancy loss, or a previous pregnancy with a genetic concern or birth defect
  • Genetic testing and counseling for patients with a family or personal history of hereditary conditions or who want to learn more about risks to a future pregnancy
  • Creation of a  prenatal genetic testing and management plan
  • Preimplantation genetic testing (PGT) to evaluate an embryo before it is transferred using  in vitro fertilization (IVF) technologies
  • Exploring the option of transferring a mosaic embryo, an embryo found to possess both normal and abnormal cells during preimplantation genetic testing (PGT)

Prenatal Genetic Testing

We offer a full range of prenatal screening and diagnostic procedures and consultations for women and their partners who are seeking information about the health of their fetus, including:

  • Carrier screening for an expanded number of genetic disorders such as spinal muscular atrophy, Tay-Sachs disease, sickle cell disease, thalassemia, Duchenne muscular dystrophy, cystic fibrosis, and fragile X syndrome, amongst hundreds of others
  • Genomic testing through chorionic villus sampling (CVS) and amniocentesis for thousands of genetic conditions such as Down syndrome, Edwards' syndrome, DiGeorge syndrome, Kabuki syndrome, CHARGE syndrome, achondrogenesis, amongst others
  • Genetic testing and evaluation of complex multi-fetal pregnancies
  • Genetic counseling and personalized testing plan for fetal anomalies discovered through prenatal imaging such as ultrasound, echocardiogram, or MRI
  • Nuchal translucency screening and cell-free fetal DNA testing/non-invasive prenatal testing (NIPT)
  • Consultation regarding complex prenatal genetic testing results to aid in clinical management decisions and planning

Genetic Risk Assessment for Breast and Gynecologic Cancers

We offer genetic risk assessment and counseling for individuals with personal and family histories of breast and gynecologic cancers of the ovaries and uterus.  Our patients receive comprehensive information about the recommended cancer genetic testing approach with personalized counseling to support decision-making and next steps. We work closely with our patient’s providers to integrate the test results into the patient’s management care plan, which may include regular screenings and follow-up care.

Why Choose Us

Expertise in Women’s Genetics Across the Lifespan

The genetics teams of NewYork-Presbyterian/Columbia University Irving Medical Center and NewYork-Presbyterian/Weill Cornell Medical Center provide unmatched excellence in expert and innovative approaches to women’s genetics, including genetic counseling, preconception screening, prenatal screening, and prenatal diagnosis for congenital disabilities and genetic disorders, and screening for breast and gynecological cancers.

Our physicians are board-certified maternal-fetal medicine specialists with advanced training in clinical genetics and our genetic counselors are certified by the American Board of Genetic Counseling (ABGC).  Recognized both nationally and internationally for our expertise, patients with some of the most challenging genetic risks and conditions come to us for a second opinion or to re-evaluate the results of genetic tests results received at another institution. Many of our physicians have pioneered some of the most innovative methods used in prenatal diagnosis today, such as microarray analysis, chorionic villus sampling (CVS), exome/genome sequencing, and multi-fetal reduction.

Advancing the Field Through Research

Our physicians are at the forefront of discovering and implementing reproductive genetics technologies for women and their pregnancies.  Many of these studies have appeared in leading medical journals, and have led to obstetric care and genetics practice changes. You may have the opportunity to participate in research studies to improve care and clinical trials of innovative fetal therapies and prenatal genetic testing approaches.

Contact us

Our Providers are Conveniently Located in Manhattan, Queens, Brooklyn, & Westchester:

NewYork-Presbyterian Hospital & Weill Cornell Medicine, Upper East Side

NewYork-Presbyterian Komansky Children’s Hospital

Division of Medical Genetics, Department of Pediatrics

The Carmen and John Thain Center for Prenatal Pediatrics

NewYork-Presbyterian Morgan Stanley Children’s Hospital

NewYork-Presbyterian Allen Hospital

NewYork-Presbyterian Brooklyn Methodist Hospital