Women’s Experiences Receiving Abnormal Prenatal Chromosomal Microarray Testing Results

Chromosomal microarrays (CMAs) can detect genetic copy-number variants undetectable by conventional cytogenetics. Chromosomal microarrays are offered prenatally when a fetal anomaly is present and karyotyping is normal, but CMAs are used increasingly for advanced maternal age, increased risk after screening, and by maternal request. The impact of positive CMA results may change a woman’s pregnancy experience. This pilot study was undertaken to determine the experiences of women who received positive results from prenatal CMAs. Patients were participating in a multicenter prospective study that enrolled 4450 women who received genetic counseling and were undergoing an invasive prenatal diagnostic procedure for karyotype analysis. During an informed consent session, women were told about the prenatal microarray study and the risks, benefits, and limitations of CMA testing. Interviews, with open-ended questions, were conducted to elicit the women’s perspectives about their experience with CMA testing. Fifty-eight women were eligible to participate; 23 of 24 who indicated an interest were interviewed. Thirteen women had amniocentesis, and 10 had chorionic villus sampling. Indications for the procedure were abnormal ultrasound in 7 and routine care in 16. An inherited deletion/duplication, known to be pathogenic or potentially clinically significant, was found in 2 and 10 cases, respectively. A de novo deletion/duplication, pathogenic or potentially clinically significant, was found in 7 and 4 cases, respectively. Sixteen women continued the pregnancy, and 7 decided on termination. Because the women had already decided to have an invasive procedure for fetal karyotype analysis, all said they had no reason to decline CMA; it was an offer “too good to pass up” to obtain more information about their baby’s health at no additional cost or risk. When patients received abnormal CMA results after first receiving normal cytogenetic results, many reported being blind-sided and shocked. Women who had CMA testing because of a fetal anomaly found on ultrasound anticipated abnormal results and were not as shocked. For most women, the abnormal CMA results left them initially shocked, anxious, confused, and overwhelmed by uncertainties. They thought that if they searched enough, they could find definitive information to aid them in making an informed decision about their pregnancy. Many women discussed the difficulty of emotionally and intellectually managing the uncertainties given how far along they were in their pregnancies. They felt they lacked enough time to gather and understand information. Several women who had testing because of a fetal structural anomaly were not as concerned about the uncertainties because the positive result justified pregnancy termination. All women needed support to manage, understand, and act on the microarray results. Most women received emotional support, information, answers to questions, and referrals from a health care provider, although some thought they did not get as much support for decision making about continuing or terminating their pregnancy. When women were given uncertain results, many considered this information knowledge they wished they did not have (“toxic knowledge”). Rather than being excited about the pregnancy, the women were anxious and constantly wondering if the variants would affect the baby’s health. This study revealed 5 pertinent elements dominating the experiences of women who had testing within a research protocol: an offer too good to pass up, blind-sided by the results, uncertainty and nonquantifiable risks, need for support, and toxic knowledge. Genetic counseling must include a thorough discussion of the uncertainties associated with abnormal microarray results, as well as the couple’s tolerance for uncertainty, along with an understanding of their social and moral values, views toward abortion, and attitudes about having a child with a disability. Providers must be sufficiently educated to adequately support women who are undergoing testing as it becomes a first-line invasive procedure.