Couples prefer preimplantation genetic diagnosis to later testing

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People who know they are at high risk for passing on a serious genetic illness to their offspring prefer learning of their risk through preimplantation genetic testing rather than waiting to be tested after a woman becomes pregnant, according to a study published this week in the journal Fertility and Sterility.

Preimplantation genetic diagnosis is a technique that follows in vitro fertilization in which a single cell is removed from an embryo growing in the lab and is tested for evidence of gene mutations that cause serious illnesses or birth defects. If the test turns up no evidence of a defect, the embryo can be implanted in a woman’s uterus with the intention that she will become pregnant.

A couple can also undergo genetic testing after the pregnancy is established. If the child is afflicted with a genetic disease, the couple has the option of carrying the pregnancy to term and preparing for the special needs of their baby or to terminate the pregnancy.

The study, of 210 Dutch couples carrying genetic disorders, found 60% wanted some kind of diagnostic testing. Of those, 74% preferred PGD. The major reason couples choose PGD was because they objected to terminating a pregnancy. The major reason some couples choose prenatal testing (such as chorionic villus sampling or amniocentesis) was because they did not want to go through in vitro fertilization.

In vitro fertilization and preimplantation genetic diagnosis are expensive procedures, said Dr. Elizabeth Ginsburg, president of the Society for Assisted Reproductive Technology, in a news release.

Many U.S. patients, she said, ‘would prefer PGD to [prenatal diagnosis] but lack insurance coverage for assisted reproductive technologies.’

-- Shari Roan