SAN FRANCISCO — In the three months before she was even born, Elianna Constantino received five blood transfusions and a bone-marrow transplant. All were given with a needle passed through her mother’s abdomen and uterus, into the vein in her umbilical cord.
Elianna, born Feb. 1 with a robust cry and a cap of gleaming black hair, has a genetic disease that usually kills a fetus before birth. The condition, alpha thalassemia major, leaves red blood cells unable to carry oxygen around the body, causing severe anemia, heart failure and brain damage.
The transfusions in the womb kept her alive, but only treated her illness. The bone-marrow transplant has the potential to cure it. Whether it will succeed is still too soon to tell.
Elianna and her mother, Nichelle Obar, were the first patients in an experiment that pushes the limits of fetal therapy, a field already known for its daring.
If the treatment works, it could open the door to using bone-marrow transplants before birth to cure not just Elianna’s blood disease but also sickle cell anemia, hemophilia and other hereditary disorders, some so severe that the prenatal diagnosis may lead parents to end the pregnancy.
Bone marrow is considered a potential cure because it teems with stem cells, which can create replacements for cells that are missing or defective as a result of genetic flaws.
“This line of work 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,” said Dr. Tippi MacKenzie, a pediatric and fetal surgeon who is leading the study at the U.C.S.F. Benioff Children’s Hospital San Francisco, part of the University of California, San Francisco.
Ms. Obar, 40, and her husband, Chris Constantino, 37, are healthy but learned during her first pregnancy that they are thalassemia carriers. There are several forms of the disease, and worldwide about 100,000 children a year are born with severe cases. Millions of people are carriers, most commonly those from Asia, the Mediterranean, Africa or the Middle East.
Carriers are generally healthy, but when two have children together, the children are at risk for the disease. Ms. Obar’s ancestry is Filipino and Puerto Rican; her husband’s is Filipino. They live in Kilauea, on the Hawaiian island of Kauai.
Their first child, Gabriel, now 3, is healthy. But each child they conceive has a 1 in 4 chance of being affected, and during Ms. Obar’s second pregnancy, her doctors were on the lookout for the disease.
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