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.

Phase 1 Clinical Trial: In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM)

In utero stem cell transplantation was developed as a strategy to address the challenges associated with transplantation after birth. In this approach, the mother's stem cells are transplanted into the fetus, taking advantage of the fact that the mother and fetus tolerate each other’s cells during pregnancy.

If the transplant is successful and the mother’s stem cells are “engrafted” (incorporated into the baby’s own bone marrow), the baby will be able to make normal blood cells. If the transplantation is not fully successful and engraftment is weaker, a “booster” transplant of the mother’s stem cells may be performed after delivery. Since even low engraftment could result in long lasting tolerance to the mother’s cells, this booster transplant can improve the baby's ability to make normal blood cells. A booster transplant is expected to be safer than current methods of stem cell transplantation after birth.

Mothers who choose to participate in this clinical trial will have stem cells harvested from their bone marrow. These cells will then be prepared for safe injection and transplanted into the fetus at the same time as an in utero transfusion (IUT). The fetus will have additional blood transfusions until birth. The success of the transplant will be evaluated after birth.

While we believe in utero transplantation can be performed safely, it is possible that it may not be effective. Potential risks of the procedure are that the fetus may become sick after the in utero transplantation or may not survive the therapy. Additionally, the mother may need a blood transfusion after donating bone marrow. In the event that in utero transplantation is not successful, repeated blood transfusions will be performed after birth and stem cell transplantation may be considered.

For more information visit the clinical trial information at ClinicalTrials.gov: In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM)

You can also download our PDF brochure: Alpha Thalassemia Major Clinical Trial Brochure and read our paper on Favorable outcomes after in utero transfusion in fetuses with alpha thalassemia major: a case series and review of the literature.

Selected Publications


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.


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.