CENTER FOR FETAL MEDICINE

AND PRENATAL GENETICS

Rosemary Reiss, MD, Interim Director

MEMBERS

David Acker, MD

Karen Davidson, MD

Lisa Dunn-Albanese, MD

Mehmet Genc, MD, PhD

Julian Robinson, MD

Thomas Shipp, MD

Louise Wilkins-Haug, MD, PhD

Frederick Bieber, PhD, Geneticist

Kathy Bennett, RN, NIC

Genetic Counselors:

Diane Ahern, MS, Supervisor

Marney Brillinger, MS

Jennifer Hume, MS

Christine Jabbour, MS

Pamela Gerrol, MS

Sarah L. McElhinney, MS

Tomi Toler, MS

Karen McCarthy, RN

Susan Busey, RN

MISSION

Our mission is to provide comprehensive genetic assessment for pregnant women and their immediate families and therapy for fetal disease through the collaboration of a multidisciplinary staff of geneticists, genetic counselors, perinatologists, nurses, ultrasonographers and neonatologists. We encourage a close working relationship with referring physicians, enabling patients to obtain much of their care in their home environment. Research in prenatal screening and diagnostic services, fetal abnormalities and multifetal gestations remains an ongoing commitment.

TRANSITIONS

§  Dr. Joaquin Santolaya is departing June 2009 to become Director of Reproductive Genetics and Associate Director of the Tennessee Institute of Fetal-Maternal and Infant Health at the University of Tennessee Health Science Center.

§  Dr Rosemary Reiss assumed interim responsibilities directing the Center for Fetal Medicine. She has longstanding interest and skill in all facets of prenatal diagnosis, a strong understanding of the Center’s operations and a close working relationship with the genetic counselors.

§  Tomi Toler, MS joined the genetic counseling staff in June 2009 and will provide counseling in the Center and at satellite offices.

ACCOMPLISHMENTS IN AY 2008-2009

§  Aneuploidy Screening: Expansion of the current FIRST LOOK screening for aneuploidy incorporating nuchal translucency and serum markers is nearing completion. A new FIRST LOOK PLUS program will offer patients the option to incorporate second trimester serum markers affording women the advantage of results in the first trimester if significantly positive and a lower screen positive rate without a loss in detection of trisomy 21.

§  Genetic Counseling Program: In conjunction with expanded aneuploidy screening, problem-focused genetic counseling sessions will be available to specifically address screening options and diagnostic modalities such as chorionic villus sampling and amniocentesis. The genetic counselors will facilitate sample follow-up and result interpretation. The counselors maintained an active role in education, presenting at the Spinal Muscular Atrophy Conference, the Human Teratogen Conference, and in-services ranging from aneuploidy screening to fragile X. Counseling for the preimplantation genetic diagnosis program continues with a focus on couples seeking PGD for chromosome translocations and single gene disorders.

§  Community Consultative Program: Ultrasound, consultation and genetic counseling services continue to be provided for community hospitals with BWH affiliation. Under Dr. Julian Robinson’s leadership, he and Drs. Lisa Dunn-Albanese and Katherine Economy provide coverage for Newton-Wellesley Hospital five days a week. Jennifer Hume, MS accompanies them with a full range of counseling services. Consultative services west of Boston will grow to two days per week at Emerson Hospital. Consultative ultrasound and genetic counseling has been maintained at Exeter for nearly a decade.

§  Multifetal Pregnancy Program: Drs. Acker, Economy, Robinson and Wilkins-Haug each contribute their expertise to the care of women with multifetal gestations. Drawing on the BWH population, Nicole Smith, MD, a first year fellow, presented outcomes from the largest to be published cohort of monochorionic pregnancies at the annual MFM meeting, challenging practice methods previously established on smaller cohorts.

§  Fetal Treatment Program: Led by Dr. Wilkins-Haug, this program, focusing on intervention for fetal cardiac anomalies, continues to advance with the successful placement of an in utero atrial shunt in a fetus with hypoplastic left heart with intact atrial septum.

GOALS FOR AY 2009-2010

§  Participation in NAFTnet: Modeled on the successful European system of multicenter collaboration for rare fetal conditions, the North American Fetal Therapy Network represents an exciting opportunity to participate in numerous studies at the clinical and basic science level. Active involvement in NAFTnet studies over the next year will include natural history of lower urinary tract obstruction, determination of the sensitivity of free DNA for Rh (D) and Kell determination and participation in a study of twin to twin transfusion syndrome to assess early markers of survival.

§  Assessment of the Diagnostic Utility of Targeted Microarray in Prenatal Diagnosis: Microarray technology represents a shift in the current approaches to DNA molecular diagnosis. Comparison of subject DNA to a large number of specific DNA segments “printed” on a slide enables rapid and cost efficient interrogation of the genome. This technology has potential to expand diagnostic sensitivity by detecting duplications and deletions not visible with microscopy. Participation of the CFM in this study demonstrated a lower than expected but not insignificant contribution of microarray abnormalities among fetuses with ultrasound abnormalities but normal conventional karyotypes. Publication of this work will contribute to the growing body of literature advocating for appropriate and careful applications of microarray technology in the prenatal testing.

§  Assessment of Cell Free Fetal Nucleic Acids for Noninvasive Diagnosis of Down Syndrome: Assessment of fragments of fetal DNA and RNA, bound by nucleosomes but free from cells is possible from the maternal circulation as early as the first trimester. Unlike fetal cells in the maternal circulation, the free fetal nucleic acids clear the maternal circulation within hours after delivery. For disorders with an absolute difference from the maternal genotype, such as the identification of Rh+ fetal DNA in an Rh- mother, the sensitivity and specificity of the testing is consistently high. However, to apply free fetal DNA/RNA testing to aneuploidy diagnosis, in which ratios may be needed, unique methodologies are required. The CFM will participate in a large, multicenter trial assessing the clinical applications of cell free fetal DNA/RNA.