Friday, May 25, 2018

Five Blood Transfusions, One Bone Marrow Transplant — All Before Birth

Five Blood Transfusions

SAN FRANCISCO — within the three months before she was even born, Elianna Constantino received five blood transfusions and a bone-marrow transplant.

All got with a needle skilled her mother’s abdomen and uterus, into the vein in her duct.

Elianna, born Feb. 1 with a strong cry and a cap of gleaming black hair features a genetic disorder that sometimes kills a fetus before birth.

The condition, alpha Cooley's anemia, leaves red blood cells unable to hold oxygen round the body, causing severe anemia, coronary failure, and brain damage.

The transfusions within the womb kept her alive, but only treated her illness.

The bone marrow transplant has the potential to cure it. Whether it'll succeed remains timely to inform.

Elianna and her mother, Nichelle Obar, were the primary patients in an experiment that pushes the bounds of fetal therapy, a field is 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 disorder but also red blood cell anemia, hemophilia, and other hereditary disorders, some so severe that a diagnostic procedure may lead parents to finish the pregnancy.

Bone marrow is taken into account a possible cure because it teems with stem cells, which may create replacements for cells that are missing or defective as a result of genetic flaws.

“This line of labor moves the sector of fetal surgery, which currently consists of massive operations for anatomic disorders, during a new direction of molecular and cellular therapies are 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, a 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're thalassemia carriers.

There are several sorts of the disease, and worldwide about 100,000 children a year are born with severe cases.

Millions of people are carriers, most ordinarily those from Asia, the Mediterranean, Africa, or the center East.

Carriers are generally healthy, but when two have children together, the youngsters are in danger of the disease. Ms. Obar’s ancestry is Filipino and Puerto Rican; her husband is Filipino. They sleep in Kilauea, on the Hawaiian island of Kauai.

The first child, Gabriel, now 3, is healthy. But each child they conceive features a 1 in 4 chance of being affected, and through Ms. Obar’s second pregnancy, her doctors were on the lookout for the disease.

They found it. An ultrasound at 18 weeks showed that Elianna’s heart was twice the dimensions it should are, and fluid was accumulating around her lungs and other organs.

Blood flow through her brain was abnormally rapid, a symbol of severe anemia.

Everything pointed toward alpha Cooley's anemia — the worst sort of the disease.

Ms. Obar’s doctor and genetic counselor warned her and her husband that their daughter won't survive.

“Her heart was working so hard,” Ms. Obar said, with tears in her eyes.

By now in pregnancy, the trimester, an affected fetus has little or not working hemoglobin, the molecule that carries oxygen to cells everywhere in the body.

Tissues are suffocating, and therefore the heart struggles to compensate.

Some medical references describe the illness as “incompatible with life,” and most fetuses die within the womb from coronary failure.

The pregnancy may end in miscarriage, and fogeys might not know why. Many don't know they're carriers.


Sometimes, because the fetus weakens, a phenomenon called mirror syndrome occurs: The mother also becomes ill, with a severe high vital sign and other problems that will kill her unless the pregnancy is ended.

Infants with untreated alpha Cooley's anemia who somehow survive until birth nearly always have severe brain damage from lack of oxygen.

Transfusions of the duct during pregnancy can save the fetus and should prevent brain damage.

the kid will then require transfusions every three or four weeks for life; the procedures cost about $50,000 a year and pose their own risks, especially a dangerous buildup of iron.

A bone-marrow transplant after birth can cure the disease, but as long as an identical donor is found.

The transplant also has dangers and costs about $150,000.

Many obstetricians don't even tell patients about transfusions, Dr. MacKenzie said.

“Everyone now's told to abort,” said Dr. Elliott Vichinsky, one of her research partners and therefore the founding father of Northern California Comprehensive Thalassemia Center at the U.C.S.F. Benioff Children’s Hospital Oakland.

“We understand families should make that call if that’s right for them. We’re just saying they ought to tend the knowledge that there are other options.”

Some doctors are wary of transfusions because they think that albeit the kid survives, there's still too high a risk of serious brain damage.

A  report last year on a world registry of survivors found that 20 percent (11 of 55) had serious delays in their neurological development.

Another article found delays in 29 percent (4 of 14).

Dr. MacKenzie and Dr. Vichinsky said they didn't attempt to discourage parents who preferred abortion. But some parents would rather avoid it.

“These aren't unwanted pregnancies,” Dr. MacKenzie said. “We’re as pro-choice as you get.

These are wanted pregnancies for whom therapy might be offered.

And you'll have an option to terminate otherwise you can have an option to have therapy, but rock The bottom line is you've got to tend those choices.

and that we recognize that’s a really personal choice, but we as doctors got to be providing you with those choices.”

Ms. Obar’s genetic counselor mentioned termination — but also transfusions.

She and her husband chose transfusions.

The counselor also described Dr. MacKenzie’s study.

the prospect that the transplant might help their daughter appealed to them, though they understood it had been an experiment and there have been no guarantees.

At this early stage within the research, the first aim of the study was to seek out out whether the treatment was safe.

The general goal of fetal therapy is to act early enough to attenuate or maybe prevent lasting harm from severe problems that start within the womb.

With a bone-marrow transplant, the added advantage of giving it before birth is that the fetal system isn't yet fully developed, so it's unlikely to reject the transplant.

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