June 5, 2018

5 transfusions and a bone marrow transplant is a lot for any patient. Especially one who hasn't been born.

Daily Briefing

    Researchers at the University of California, San Francisco (UCSF) are investigating a new fetal therapy that could be a game changer for treating prenatal disorders—like the one doctors detected in Elianna Constantino when her mother was 18 weeks pregnant, Denise Grady reports for the New York Times.

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    Details on the disease

    In utero, Elianna was diagnosed with alpha thalassemia major, which meant that her red blood cells were unable to carry oxygen throughout the body. There are several forms of the thalassemia disease, and alpha thalassemia major is its worst form. The condition can lead to severe anemia, brain damage, and heart failure.

    About 100,000 infants each year are born with severe forms of the disease, and millions of people are genetic carriers—people who are typically healthy themselves but may pass the gene for the disease on to their offspring. The gene appears most commonly in populations form Asia, Africa, the Mediterranean, and the Middle East. According to Grady, many thalassemia carriers don't know they carry the gene.

    Most fetuses with the disease die in the womb from heart failure, with some pregnancies ending in miscarriage. Other times, as the fetus gets weaker, a phenomenon called mirror syndrome begins, which endangers the life of the mother.

    Babies with untreated alpha thalassemia major who survive until birth also face significant health challenges, such as severe brain damage from insufficient oxygen.

    Currently, there are two main types of treatment, but both can be time consuming and costly, Grady reports. The first involves blood transfusions into the umbilical cord to keep the fetus viable and stave off brain damage. Babies that undergo the treatment and make it full-term will require transfusions every three-to-four weeks for the rest of their life. The transfusions cost about $50,000 each, and come with risks such as dangerous iron build-up, according to Grady.

    The other option is a bone marrow transplant after birth that could cure the disease. However, the procedure can cost about $150,000 and can only be done if a matching donor is found.

    According to Tippi MacKenzie, a pediatric and fetal surgeon at UCSF Benioff Children's Hospital, many doctors don't even tell their patients about the transfusions, and according to Elliott Vichinsky, one of MacKenzie's research partners, most parents are told to terminate the pregnancy.

    A procedure with potentially major implications

    MacKenzie is leading new research to hopefully give parents a new option to cure the disease. Her research focuses on in-utero bone marrow transplants—with the mother as the donor—coupled with blood transfusions.

    According to Grady, if the treatment works, it could lay the foundation for prenatal bone marrow transplants to cure not only alpha thalassemia major but other hereditary conditions as well, such as sickle cell anemia and hemophilia.

    Grady reports that bone marrow is thought of as a potential cure for alpha thalassemia major because it's filled with stem cells that can make replacement for the cells that are defective or missing. Unlike postnatal transplants, the fetus does not have to undergo an "arduous" round of chemotherapy to receive a transplant from the mother in the womb, according to Grady. While the mother is not a complete genetic match, during pregnancy, the fetus' immune system is "at peace" with the mother's—making the mother an "ideal donor," Grady writes.

    According to MacKenzie, her research "moves the field of fetal surgery, which currently consists of big operations for anatomic disorders, in a new direction of molecular and cellular therapies given non-invasively."

    Elianna and her mother, Nichelle Obar, are the first patients to receive treatment as part of MacKenzie's maternal-fetal bone marrow transplant research, Grady reports. For the treatment, Elianna was given five blood transfusions while in the womb in order to stay alive as well as the bone-marrow transplant from Obar.

    So far, there have been no adverse effects to the baby or her mother, though there haven't been any apparent benefits from the procedure either, Grady reports. Elianna, who's about three months old, still needs a blood transfusion every three weeks, Grady reports. While tests have found some of Obar's stem cells in Elianna's blood, doctors are unsure whether they will start to help her, Grady reports.

    Obar said Elianna is doing well. "I'm not disappointed at all," Obar said. "If it works, great. If it didn't, we're OK with it. We'll celebrate all the little accomplishments. I'm glad we did it" (Grady, New York Times, 5/25).

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