The program has been involved in prenatal dagnosis since the development of amniocentesis more than three decades ago. The Division provides both preconception and prenatal assessment of genetic risk and counseling. The program faculty are trained and board certified in both obstetrics and gynecology and genetics. The program employs genetic counselors who are masters degree prepared and are also board certified.
Lorraine Dugoff, MD
Chief, Division of Reproductive Genetics
Lorraine.Dugoff@uphs.upenn.edu
University of Pennsylvania Health System
Department of OB/GYN
3400 Spruce Street, 5 Dulles
Philadelphia, PA 19104
Phone: (215) 662-3232
Fax: (215) 349-5893
Clinical services include:
- Preconception genetic assessment and counseling
- Prenatal genetic counseling and screening for:<
- Down syndrome
- Hemoglobinopathies
- Cystic fibrosis
- Disorders with increase frequency in couples with Eastern European Jewish background
- Assessment of family history and genetic screening for gamete donors
- Other genetic diseases
- Genetic evaluation for reproductive losses
- Amniocentesis
- Chorionic villus sampling
- Ultrasound evaluation of pregnancy
- Gynecologic care of patients with genetic disorders
The Division offers services at several geographic sites within the University of Pennsylvania Health System, including the Hospital of the University of Pennsylvania, Pennsylvania Hospital and Chester County Hospital. The Division works closely with the Pediatric Genetics Division at the Children's Hospital of Philadelphia and the adult Medical Genetic Program at the Hospital of the University of Pennsylvania. In conjunction with the Division of Reproductive Endocrinology and Infertility, the program is able to offer the full range of reproductive options to avoid or reduce risk for couples who have special genetic risk.
The Division members conduct research in molecular cytogenetics of 22q-, the molecular basis of congenital heart defects, applications of cell-free DNA testing (NIPS) and in development and implementation of guidelines for prenatal genetic screening. The Division provides clinical education to fellows in Maternal Fetal Medicine and residents in Obstetrics and Gynecology.
Counselors
- Rose Giardine, MS
- Kristen Presser, MS
- Natalia Wisniewski, MS