“If it helps …” the use of microarray technology in prenatal testing: Patient and partners reflections

Abstract

The objective was to gain insight into the experiences of women and their partners diagnosed with a fetal abnormality on prenatal ultrasound examination and receiving genetic testing including microarray. Twenty-five semi-structured interviews were performed with women +/- their partners after receiving the results of prenatal genetic testing. Framework analysis was performed to elicit themes and subthemes. Five main themes were recognized; diagnosis, genetic testing, family and support, reflections of the treatment received and emotions. Our results showed that women recall being told about QFPCR for trisomy 13, 18, and 21 but often no further testing. Women expected the conventional karyotype and microarray result would be normal following a normal QFPCR result. There were frequent misconceptions by couples regarding aspects of counseling/testing. Communication of variants of unknown (clinical) significance (VOUS) presents a particularly difficult challenge. Good clear communication by health care professionals is paramount. When counseling women and their partners for fetal chromosomal testing it should be reinforced that although the most common, trisomy 13, 18, and 21 only account for some of the chromosomal changes resulting in abnormal scan findings. Couples should have literature to take home summarizing scan anomalies and reinforcing information about genetic testing.

What results to disclose, when, and who decides? Healthcare professionals' views on prenatal chromosomal microarray analysis

“…Some participants in our study recognised the difficulty of communicating the complexity around potential CMA findings to parents prior to testing. Other studies have demonstrated that participants often do not recall being told, prior to testing, about the possibility of finding VOUS . Van der steen et al .…”

Comparing genetic counselor's and patient's perceptions of needs in prenatal chromosomal microarray testing

“…These findings and previous research suggest counselors should identify issues that are most important for the individual patient at the outset of the counseling session and then personalize counseling to address those issues . Although most patients want to understand a wide variety of items relating to prenatal testing, studies have shown that when genetic counseling sessions are information dense, or when patients are under emotional stress, understanding may be poor . Importantly, assistance with decision‐making is frequently lacking in genetic counseling sessions .…”

“…In support of patient autonomy, the vast majority of genetic counselors and geneticists (~80%) believe woman should be given a choice about what kinds of unexpected diagnoses are returned to them . Despite wanting as much information as possible about their fetus or neonate, including CMA results of uncertain clinical significance, when given such results prenatally, many women express distress and prolonged uncertainty about their child's development and seek out additional information, frequently from genetic counselors . Genetic counselors, however, may lack confidence interpreting ambiguous results, counseling patients about uncertain prenatal findings, and facilitating decision‐making around the possibility of terminating a pregnancy in the face of uncertain results …”

Expert Knowledge Influences Decision-Making for Couples Receiving Positive Prenatal Chromosomal Microarray Testing Results

“…These can be drawn on in medical contexts to ground decision making within a perceived environment of social support (Banks-Wallace 2002;Livo and Rietz 1986). Social network analysis is often used to address this knowledge deficit (Hillman et al 2013;McKechnie, Pridham, and Tluczek 2014;Atkinson, Featherstone, and Gregory 2013), but is insufficient to capture the broad range of resources needed in such an overwhelming gap in knowledge that has such high consequences, as is the case with receiving a prenatal VUS result. In particular, when there is no familial linkage between a genetic variant and a phenotype, as is the case of a de novo VUS, families have increased concern (Walser et al 2016) and must extend their information search beyond the boundaries of biomedical knowledge.…”