Reproductive Genetics

Clinical research is a basic component of the Division of Reproductive Genetics. The research focus of the division is to further our knowledge and understanding of the interface between women's health care and the latest advances in medical genetics.

Fetal and Newborn Down syndrome and related disorders

The FASTER trial: First And Second Trimester Evaluation of Risk for Aneuploidy; NICHD 1 R01 HD38652-01 (Dr. Susan Gross - Site Principal Investigator)
This study has just been completed and has demonstrated the utility of first trimester ultrasound and serum testing for the detection and screening of Down syndrome in pregnancy. The Division of Reproductive Genetics is now implementing this program to residents of Bronx and Westchester counties.

New York State Department of Health Empire State Grant Training Program. The Individual and Epidemiologic Experience of Down Syndrome, Trisomy 18, and Neural Tube Defects after Almost 20 Years of Antenatal Maternal Serum Screening (Dr. Susan Gross - Program Director).
There are two aims of this current study. The first aim is to understand the experience of women and families who have had a child with Down syndrome, Trisomy 18 or neural tube defects. The second aim is to look at the broader statistical data from the New York State databases to ascertain whether there has been any change with respect to the incidence of these disorders. Such information will be analyzed and use to enhance the detection and management of these disorders and, most importantly, improve the current perinatal care provided to such families and their children.

Differential Gene expression in Down syndrome placentae; NIH R03HD040342-01A1 (Dr. Susan Gross - Principal Investigator)
This study looks at placental alterations in cases of Down syndrome pregnancies using the latest molecular genetic techniques. The aims of this study are to determine whether more efficient markers can be developed to detect or diagnose Down syndrome in pregnancy and to improve our understanding of placental function in such pregnancies. There is a much higher risk of stillbirth and birth defects in pregnancies affected with Down syndrome, and such knowledge may help us improve the outcomes of these newborns.

Breast Cancer Genetics

Inherited Predisposition at BRCAI and BRCAII, Environmental and Breast Cancer Among Jewish Women; DOD Breast Cancer Research Program grant #DAMD17-98-1-8257 (Dr. Susan Gross - Site Principal Investigator)
This first phase of this study investigated the incidence of the breast/ovarian cancer genes in the Ashkenazi Jewish population. These results have been published in Science (King MC et al. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003 Oct 24;302(5645):643-6.) This study is ongoing; we are currently recruiting high risk families who do not carry any of the specific mutations previously identified in this population. Further analysis is still required to identify the other genes that may be responsible for familial cases of breast/ovarian cancer.

Cancer genetic counseling and testing for high-risk minority women – inequities in the provision of care. (Dr. S. Klugman –Principal Investigator)
Our division is dedicated to the provision of quality medical genetics services, particularly for those of the underserved communities within the Bronx. We are investigating disparities in access to such care in the area of counseling for heritable cancer syndromes, including breast, ovarian and colon cancers. The aim of this study is to identify these barriers and thereby develop rational policies and approaches to improve care and consequent outcomes in women with significant history of cancer in their families.