Embryo swap scandal reinforces role of genetic counselors

In what should have been the best moment of her life, a New York woman looked down at her newborn twins for the first time and realized she had given birth to someone else’s babies.

Her journey to parenthood had not been easy. A.P. and her husband Y.Z. sought the assistance of a fertility clinic when they were unable to conceive a pregnancy naturally. Despite the more than 20 fertility clinics in New York City alone, the couple chose to travel to the Los Angeles CHA Fertility Center, whose website promised “scientific excellence, hope and new life.”

They chose to have in vitro fertilization (IVF) with preimplantation genetic testing (PGT) to reduce the risk for specific genetic conditions. This type of genetic testing on their embryos detects extra or missing chromosomes and therefore identifies the sex of the embryo.

In the couple’s second IVF attempt in 2018, CHA claimed they transferred two of the couple’s healthy female embryos into A.P.’s uterus to achieve a twin pregnancy. After the twins were born and clearly not Asian like A.P. and Y.Z., genetic testing revealed the embryos transferred for A.P.’s pregnancy actually belonged to two other couples. One of these couples has publicly expressed the paradoxical joy and trauma of receiving a call that they have a child and meeting their baby in a hotel lobby.

Surprisingly, the delivery room was not the first sign of alarm. Reports indicate that a prenatal ultrasound showed that A.P. was pregnant with twin boys and when asked about the sex discrepancy, CHA merely noted the inaccuracy of ultrasound.

To be fair, neither ultrasound nor PGT is a perfect predictor of fetal sex, but this scenario should have raised red flags. A genetic counselor should have been involved at this moment to discuss with the couple options for prenatal genetic screening or diagnostic testing, and perhaps the swap could have been uncovered earlier.

This raises several questions. Were A.P. and Y.Z. offered prenatal genetic screening or testing when the ultrasound predicted the twins were male? Did CHA counsel her about the limitations of PGT? Would they have pursued genetic testing after delivery if the babies happened to be Asian? What would have happened if one of the babies had a genetic condition or birth defect?

Although most people who choose to have IVF do not have to confront all of these perplexing questions, genetic counselors help them understand the risks, benefits, and limitations of PGT. This information will help them make informed decisions about what genetic information they would like to know both prior to and during a pregnancy.

The American College of Obstetricians and Gynecologists recommends couples who have undergone IVF with normal PGT results be offered genetic testing and screening during a pregnancy.

Genetic counselors educate patients about available testing options and help families understand how genetic test results impact them. As genetic testing becomes increasingly more accessible and more desired prior to and during a pregnancy, the demand for genetic counselors has skyrocketed and has nearly doubled since 2006.

To answer the growing need, Baylor College of Medicine’s new Genetic Counseling Program will graduate its inaugural class in spring 2020. The curriculum includes two medical ethics courses to prepare students to address such complex questions as raised by this case thoughtfully and responsibly in their careers.

Genetic counselors play a vital role in teasing out the answers to the complex questions raised by the case of the swapped embryos. Specialized training in assessing and incorporating the needs and desires of multiple parties along with available genetic risk information provides genetic counselors with a skill set attuned to the unique questions raised by this situation.

This is not the first time an embryo swap has made us question the meaning of parenthood. It will take a collaborative effort from bioethicists, legal experts, physicians, and genetic counselors to reduce the risk of this nightmare recurring – and, more broadly, to empower individuals undergoing IVF to make educated healthcare decisions.

-By Sarah Huguenard, M.S., CGC, Department of Molecular and Human Genetics, Baylor College of Medicine