Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital

"It's probably nothing, but…" Couples' experiences of pregnancy following an uncertain prenatal genetic result

Research output: Contribution to journalJournal articleResearchpeer-review


  1. Borderline ovarian tumors in Denmark 1997-2018: Time trends in incidence by histology, age and educational level

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Differentiated timing of induction for women with intrahepatic cholestasis of pregnancy - a historical cohort study

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Length of hospital stay after cesarean section in Denmark from 2004 to 2016: a national register-based study

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Genetisk screening af kommende forældre

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

INTRODUCTION: A common concern regarding the introduction of chromosomal microarray in prenatal testing is the concomitant identification of an uncertain copy number variant (CNV) where significance and clinical implication for the unborn child can be difficult or impossible to predict. Following the identification of an uncertain CNV, prospective parents may decide to continue the pregnancy. The aim of this study was to explore how prospective parents manage uncertainty and experience pregnancy in light of an uncertain CNV result.

MATERIAL AND METHODS: Qualitative interviews with 16 women and 10 partners who had received a prenatally diagnosed, uncertain CNV. Participants were recruited from the Aarhus University Hospital, Denmark and most were interviewed in their homes 1-14 weeks after birth. Data were analyzed using thematic analysis.

RESULTS: Following the CNV diagnosis, some couples focused on the severe syndromes ruled out by the result, whereas others were more concerned with the new potential risks, for example, learning disabilities. Most couples did not remember the actual diagnosis, but all described a number of attention points generated by the CNV result. During pregnancy, the couples used various strategies to limit worry and enjoy their pregnancy, such as limiting information seeking, reducing talk of the CNV, and deferring thoughts of potential consequences. Furthermore, ultrasound was considered a valuable resource for reducing worry as it provided reassurance about the development of the baby. Inherited CNVs caused relief on one hand, but also feelings of responsibility for the child's potential challenges. After birth, worry decreased considerably, but all couples paid some extra attention to the child's development, while also being alert to the risk of wrongfully interpreting the child's development in terms of the CNV. Eleven couples expressed satisfaction with knowing about the child's CNV, whereas five couples would rather not have known.

CONCLUSIONS: The results indicate that health professionals should be mindful of terminology, remember to point out what has been ruled out by the CNV result, and discuss potential coping strategies with the couple. Furthermore, these couples may have a higher need for ultrasound during pregnancy to help reduce worry. More research is needed on the families' long-term coping.

Original languageEnglish
JournalActa Obstetricia et Gynecologica Scandinavica
Issue number6
Pages (from-to)791-801
Number of pages11
Publication statusPublished - Jun 2020

    Research areas

  • chromosomal microarray analysis, copy number variants, experiences, parents, penetrance, pregnancy, prenatal testing, uncertain significance

ID: 59247126