Errors During PGD Testing Raise Wrongful Conception Concerns

By Krystina Steffen, staff writer – December 15, 2011

With advances in science and technology, having a healthy baby is more of a possibility. Preimplantation genetic diagnosis, also known as PGD, is a welcome relief for a couple who wants to have a child but is concerned about passing on genetic disorders or chromosome abnormalities. With newer techniques of in vitro fertilization, PGD involves taking cells from the embryo to determine if there are any abnormalities so that the doctor will only implant healthy cells in the woman’s uterus.

PGD has also been utilized by some medical centers to determine the sex of the child, the possibility of the child being born deaf or small stature and tissue typing. [1] For family planning or health reasons, PGD is sought after by some couples for peace of mind. It comes at an expensive price tag in the $10,000 range on up for IVF and PGD, and insurance does not typically cover it. PGD testing has been in use since the early 1990s and analyzes polar bodies during the process of meiosis or single cells from embryos after fertilization. [2] The small amount of DNA is amplified and can detect hereditary cancer, genetic mutations, and Down syndrome, for example. It can also show clues that can help a patient decrease their risk of miscarriage. [3]

Sometimes testing is done for just one specific genetic abnormality. At other times, PGD testing is done to see if an embryo has too many or too few chromosomes, which is an aneuploidy screening. PGD testing for aneuploidy uses fluorescence in situ hybridization (FISH) where DNA is labeled with glowing molecules, known as fluorochromes, which attach to certain chromosomes. Technicians can then count chromosome copies to look for abnormalities. PGD testing can be done on embryos three to five days after fertilization and be implanted back in the woman within the next two days. [4]

Prenatal testing, in general, is such a big market that in 2010 it accounted for a $1.3 billion industry. [5] Currently, most of the PGD patients are women of older child-rearing ages. This will only increase as statistics show women are waiting longer to have a child. After women reach age 37, there is a tendency to have chromosomally abnormal eggs. [6] Other patients seek out PGD testing due to recurrent miscarriages, failed IVF attempts, or genetic disorders in their families. By going the extra lengths and costs for IVF and PGD, a couple can transfer chromosomally normal embryos and reduce their risk for birth defects and miscarriage.

But reducing risk does not mean eliminating all risk. Sometimes a strong embryo can be harmed during the embryo biopsy procedure, lessening the effectiveness of the procedure. At other times, PGD can give false results and differences in techniques from varying medical centers and technicians doing this type of testing can alter the outcome. False results occur on an estimated five to 15 percent of embryos, including ones that show they are truly normal but testing shows abnormal, and vice versa. [7] Sometimes an affected embryo is implanted instead of an unaffected embryo.

In these circumstances, wrongful birth lawsuits emerge as do issues of medical malpractice and professional negligence. Errors in the process or with staff are alleged to have caused improper PGD testing and led the couple to proceed with the pregnancy. For some, had it not been for the health care professional’s negligence, they would have never conceived the child. For the expense and time commitment involved, the couple would have continued to test for normal cells to be implanted. The matter then becomes who is liable for the failure to detect a genetic disorder, sex of the baby, or other priority of the couple that also paid big money to get a healthy child.

Notable cases since the 1990s with PGD involve babies born with disorders after a fertility center claimed an embryo was normal. The courts favor these matters as a wrongful conception issue. [8] As with other types of injury cases, a couple can seek compensation for the cost of the failed procedure, pregnancy costs, pain and suffering, lost wages, and loss of consortium.

In the Family Court Review Journal, a recent article about “When Parents Can Choose to Have the ‘Perfect’ Child: Why Fertility Clinics Should be Required to Report Preimplantation Genetic Diagnosis Data” urges policymakers to have more oversight of fertility clinics and regulate PGD practices. [9] Since the United States does not currently regulate PGD testing, some are concerned about clinics’ desires for profitability in contrast to downplaying risks and failure rates for this experimental testing. At a minimum, consent forms outlining the risks of PGD and disclosures about it being an experimental test should be more prominent as the quest for the perfect baby is sought by a couple.

“Other countries regulate assisted reproduction to protect the well-being of all participants, including the children whom it helps create and the families and society into which they are born,” said Marcy Darnovsky, the associate executive director of the Center for Genetics and Society. [10] “Drawing lessons from their successes could help temper the commercial pressures in the U.S. assisted reproduction sector, without in any way diminishing reproductive rights.”

Others are apprehensive that as PGD becomes utilized more, it will lead to designer babies and a growing disparity between those that can afford to have perfect children and those who cannot. This, coupled with self regulation, can lead to unintended consequences that regulatory agencies and medical boards should be proactive about. Especially with varying levels of skill from clinic to clinic and technician proficiency, even in the same clinic, more oversight is needed to ensure that patient safety and medical standards are being upheld.

Darnovsky warns that prenatal genetic testing “…could radically alter the experience of pregnancy and parenting…and we’d better start thinking about it now – before hype, fear, and the polarized politics of abortion distort the discussion.” [11] The American Society for Reproductive Medicine and the American College of Obstetricians and Gynecologists provides fertility professionals with best practices for PGD. But guidelines are not enough; oversight by qualified regulatory groups would be better for patient safety.

Sources

[1] http://scholarship.law.wm.edu/cgi/viewcontent.cgi?article=1319&context=wmjowl&sei-redir=1&referer=http%3A%2F%2Fscholar.google.com%2Fscholar%3Fhl%3Den%26q%3DPGD%2Btesting%26as_sdt%3D2%252C10%26as_ylo%3D2011%26as_vis%3D0#search=%22PGD%20testing%22

[2] http://pgdtesting.net/

[3] http://www.ivf1.com/pgd/

[4] http://www.advancedfertility.com/preimplantation_genetic_diagnosis.htm

[5] http://www.liebertonline.com/doi/abs/10.1089/gen.31.18.03

[6] http://www.advancedfertility.com/preimplantation_genetic_diagnosis.htm

[7] Id.

[8] http://www.dnapolicy.org/resources/Overviewofcourtdecisions_Crockin.pdf

[9] http://onlinelibrary.wiley.com/doi/10.1111/j.1744-1617.2011.01418.x/abstract

[10] http://scienceprogress.org/2009/05/baby-business-and-public-policy/

[11] http://www.geneticsandsociety.org/article.php?id=5957

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