LÜBECK -- The parents want to maintain their anonymity. Not only because they want to be able to enjoy life with their new baby girl without media hassle, but also because they did something that outrages some people – embryo screening, as pre-implantation genetic diagnosis (PGD) is also called.
PGD entails taking a DNA sample from an embryo created in vitro from the mother’s egg and the father’s sperm, analyzing it for genetic abnormalities, and then – only if it is free of the abnormalities tested for – implanting the embryo in the mother’s womb.
Initially illegal in Germany, PGD was pronounced legal by the German Supreme Court in 2010. The Bundestag, or federal parliament, passed a law the following year in favor of PGD practices.
The parents told Die Welt that it all began in 2008 when the wife became pregnant for the first time. An ultrasound scan of the embryo showed some deformities but the specialist they consulted couldn’t, in his genetic testing, find any reason for them. After waiting for a bit to see if the anomalies disappeared, which they did not, the couple decided to interrupt the pregnancy in its 13th week. However, an examination of the fetus was not conducted. A second pregnancy in 2009 ended with a miscarriage. “That was the second time our world collapsed,” the father says.
"I wouldn’t have aborted..."
When the wife became pregnant for a third time, the couple once again faced an anxiety-ridden wait for tests. Their worst fears were confirmed: the same abnormalities appeared as had in the first pregnancy. This time, though, they waited.
“My hope was that if the child turned out to have some sort of challenge, it would be one that still made it possible for him or her to have a good life,” the wife says. “I wouldn’t have aborted a child with Down syndrome.” It wasn’t Down syndrome, though. It was a major deformity that doctors could not explain but that made an abortion -- in what was by now the 18th week -- advisable. “This time we wanted answers,” the father says.
The aborted fetus was examined, and the parents given extensive tests. Results showed that the problem was the extremely rare Desbuquois syndrome. Although not affected themselves, both parents carried the genes. There was a 25% probability that any child of theirs would have heart, lung or skeletal problems so severe that it would die during the pregnancy or shortly after birth. “Once we realized that,” the mother says, “we turned to the Kinderwunschzentrum in Lübeck” – a center for reproductive medicine at the University of Lübeck hospital.
“It was pure chance that the couple turned to us just then,” says reproductive specialist Professor Georg Griesinger. “After intensive consultations and tests, researching exactly what medical technology could do in the case, and checking with our ethics commission, we came to the conclusion that PGD made sense.”
The person in charge of the PGD procedures was Professor Gabriele Gillessen-Kaesbach, a human geneticist. “Before we could begin, we had to bone up on Desbuquois syndrome and develop the appropriate testing procedures,” she says. “Each rare hereditary disease requires its own highly specialized procedure; it’s presently impossible to test an embryo for a wide spectrum of potential problems.” That’s something that the current German law forbids anyway. PGD may only be used to test the specific hereditary disease prospective parents are hoping their child can avoid.
So it was only after a considerable preparatory phase that the process could begin. The mother found the artificial insemination trying – the hormones she was given prior to removal of egg cells caused edema, and she had to be hospitalized for a week.
In April 2011, six of the egg cells were successfully inseminated and PGD was carried out on five embryos. Two of the embryos turned out not to be affected by the syndrome; the couple’s daughter was one of these. Three others carried the genes for Desbuquois syndrome but would not have themselves been affected by the syndrome; these were frozen, and are available to the mother for a future pregnancy if she so wishes.
Not expecting the “perfect” daughter
Before and during the whole process, the parents had long discussions with doctors and friends about what they were doing. All agreed that the point of the exercise was making sure that the child did not have the syndrome that would kill it before or shortly after birth. Their goal was not to have a “perfect” child. For that reason, says the husband, it’s terrible having to contend with accusations about breeding humans as one might prize animals or killing off the handicapped.
“It wasn’t about discrimination for us,” he says. “Why should we not be able to have a baby out of fear that it would be afflicted?”
In Lübeck, the approach to PGD is low key. Dr. Griesinger says his team will be treating two more cases soon, but – even further down the road – can’t imagine handling more than 20-25 such cases a year. Given the legal parameters set for the procedure, Griesinger estimates there will be 200-300 annual PDGs carried out nationwide in the coming years.
Many couples are turned away in Lübeck, either because chances are too small that they would pass on a hereditary illness, or the illness is not considered to be serious enough. “We wouldn’t do a PGD if one of the parents had an illness that was not life-threatening,” Dr. Gillessen-Kaesbach stresses, adding that a number of parents do not fit the bill for PGD because they are too old for artificial insemination.
Read the original story in German
Photo - mahalie