Our Research

The Center for Maternal-Fetal Precision Medicine is developing research projects and clinical trials aimed at understanding, and ultimately curing, a host of fetal and congenital diseases.

Ongoing mouse studies conducted at the MacKenzie lab include investigations into the underlying immune basis of Gastroschisis and trials of in utero hematopoietic stem cell transplantation.

Ongoing research projects involving human subjects include analysis of maternal and fetal tissues after birth to investigate the immune basis of preterm labor and various congenital anomalies, including Congenital Diaphragmatic Hernia and Gastroschisis.

We are beginning an initiative to understand and diagnose differential causes of Non-Immune Hydrops Fetalis (NIHF). Many fetal issues can cause NIHF and, particularly without a specific causal diagnosis, the clinical outcome is not well understood. However, some known causes of NIHF may be treatable in utero, and we are beginning to explore treatment for two of these causes, MSP 7 and Alpha Thalassemia Major.

We are planning a clinical trial for fetuses with Alpha Thalassemia Major. Early genetic diagnosis and the positive outcomes of chronic transfusion have led many families to seek the alternative of intrauterine transfusion (IUT) for fetuses with Alpha Thalassemia Major. Fetuses treated with IUT throughout pregnancy starting at an early gestational age (18-25 weeks) have positive outcomes at birth. After the birth of the neonate with Alpha Thalassemia Major, the treatment options are chronic transfusion or bone marrow transplant (BMT). For families who are considering IUT, we are developing a trial of in utero hematopoietic stem cell transplantation, along with in utero transfusion, as a strategy that can tolerize the fetus to transplanted stem cells and prevent complications of postnatal transplantation such as graft vs host disease.

Selected Publications

2015

Baer, R. J., Chambers, C. D., Jones, K. L., Shew, S. B., MacKenzie, T. C., Shaw, G. M., & Jelliffe‐Pawlowski, L. L. (2015). Maternal factors associated with the occurrence of gastroschisis. American Journal of Medical Genetics Part A.

Kaimal, A. J., Norton, M. E., & Kuppermann, M. (2015). Prenatal testing in the genomic age: clinical outcomes, quality of life, and costs. Obstetrics & Gynecology, 126(4), 737-746.

Kuppermann, M., Pena, S., Bishop, J. T., Nakagawa, S., Gregorich, S. E., Sit, A., ... & Norton, M. E. (2015). Effect of Enhanced Information, Values Clarification, and Removal of Financial Barriers on Use of Prenatal Genetic Testing: A Randomized Clinical Trial. Obstetrical & Gynecological Survey, 70(1), 7-9.

MacKenzie, T. C., David, A. L., Flake, A. W., & Almeida-Porada, G. (2015). Consensus statement from the first international conference for in utero stem cell transplantation and gene therapy. Frontiers in pharmacology, 6.

Norton, M. E., Chauhan, S. P., Dashe, J. S., & Society for Maternal-Fetal Medicine (SMFM. (2015). Society for Maternal-Fetal Medicine (SMFM) Clinical Guideline# 7: nonimmune hydrops fetalis. American journal of obstetrics and gynecology, 212(2), 127-139.

Norton, M. E., Jacobsson, B., Swamy, G. K., Laurent, L. C., Ranzini, A. C., Brar, H., ... & Wapner, R. J. (2015). Cell-free DNA analysis for noninvasive examination of trisomy. New England Journal of Medicine, 372(17), 1589-1597.

Walters, M. C., & MacKenzie, T. C. (2015). A booster shot to cure hemoglobinopathies. Blood, 126(10), 1159-1161.

2014

Derderian, S. C., Jeanty, C., Fleck, S. R., Cheng, L. S., Peyvandi, S., Moon-Grady, A. J., ... & MacKenzie, T. C. (2015). The many faces of hydrops. Journal of pediatric surgery, 50(1), 50-54.

Derderian, S. C., Togarrati, P. P., King, C., Moradi, P. W., Reynaud, D., Czechowicz, A., ... & MacKenzie, T. C. (2014). In utero depletion of fetal hematopoietic stem cells improves engraftment after neonatal transplantation in mice. Blood, 124(6), 973-980.

Norton, M. E. (2014). Oral agents effective for severe hypertension in pregnancy. BJOG: An International Journal of Obstetrics & Gynaecology, 121(10), 1220-1220.

Norton, M. E., Jacobsson, B., Swamy, G., Laurent, L. C., Ranzini, A., Brar, H., ... & Wapner, R. (2014). Non-invasive Examination of Trisomy using Directed Cell Free DNA Analysis: The NEXT Study. Prenat Diagn, 34(Suppl 1), e2.

Rosenstein, M. G., Newman, T. B., & Norton, M. E. (2014). Does augmentation or induction of labor with oxytocin increase the risk for autism?. American journal of obstetrics and gynecology, 210(5), 495.

Wegorzewska, M., Le, T., Tang, Q., & MacKenzie, T. C. (2014). Increased maternal T cell microchimerism in the allogeneic fetus during LPS-induced preterm labor in mice. Chimerism, (ahead-of-print), 1-6.

Wegorzewska, M., Nijagal, A., Wong, C. M., Le, T., Lescano, N., Tang, Q., & MacKenzie, T. C. (2014). Fetal intervention increases maternal T cell awareness of the foreign conceptus and can lead to immune-mediated fetal demise. The Journal of Immunology, 192(4), 1938-1945.

See all PubMed entries for Tippi MacKenzie.

See all PubMed entries for Mary Norton.