Abstract

In the prenatal setting, women are offered fetal karyotyping for reasons including an abnormality on ultrasound scan. Full, conventional karyotyping has been available since the 1960s but is being superseded by chromosomal microarray testing (CMA). Often the results obtained from CMA give women and their partners more information on which to make decisions and prepare. However in some cases the results can be complex and even uncertain. It is vital that we seek to understand the effect this new technology (and the uncertainty it can create) is having on couples. Previous qualitative work in this field is limited to women’s experience of prenatal genetic testing or women’s experience of having an abnormal ultrasound scan.

We present qualitative research from 25 semi-structured interviews with women (and their partners) whose babies have fetal anomalies after CMA testing. Data was analysed using framework analysis. A thematic framework was then identified by recognising emerging themes. Five themes were identified; diagnosis, genetic testing, family and support, reflections of the treatment received and emotions.

Our results show that women recall being told about common trisomies but often no further testing. Women expected the conventional karyotyping and CMA result would be normal following a normal QFPCR result. There were frequent misconceptions by couples regarding aspects of counselling/testing. Communication of variants of unknown (clinical) significance (VOUS) presents a particularly difficult challenge. Good clear communication by health care professionals is paramount. Couples should have literature to take home summarising scan anomalies and reinforcing information about genetic testing.