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the need

One in 22 babies have a major congenital anomaly, many diagnosed prenatally.

A major congenital anomaly is a difference in the health, development or genetics of the baby that may lead to a changed developmental path, pregnancy loss, stillbirth, early death or significant medical interventions in the postnatal period.

Unexpected findings during prenatal screening are more common than many think, especially when including minor congenital anomalies or genetic differences of uncertain significance.

Parents who receive a suspected or confirmed prenatal diagnosis of congenital anomaly experience significant mental health challenges:

  • 88% of mothers and 83% of fathers experienced prenatal diagnosis as a traumatic event. [1]
  • Suicidal ideation was significantly more prevalent in mothers who received a prenatal diagnosis than mothers with a typically-developing baby. [2]
  • 39% of mothers who continued their pregnancies met full diagnostic criteria for PTSD, [3] and 60% experienced ongoing symptoms. [4]
  • In another study, 85% of mothers reported re-experiencing symptoms of trauma & 35% met full diagnostic criteria for PTSD. [15]
  • Anxiety after a prenatal diagnosis was rated as moderate to severe in 1 in 2 women. [16]
  • At 6 weeks and 6 months postpartum, parents who received a prenatal diagnosis reported significantly increased psychological distress compared to parents who received a postnatal diagnosis. [5]
  • A ‘high chance’ screening result impacts long-term mental health even when the baby does not have an anomaly. [6]
  • Anxiety, depression and PTSD symptoms are frequent in the early stages of a pregnancy following a TFMR. [17]

The need to address the psychosocial consequences of prenatal screening and diagnosis is increasing due to:

  • the increasing incidence of prenatal diagnosis because of:
    • advancements in research and technology,
    • increasing uptake in NIPT screening, and
    • new carrier screening initiatives in which parents can access during early pregnancy (MacKenzie’s Mission)
  • consent for prenatal screening and testing is often passive and rarely fully informed, leaving parents ill-prepared for unexpected news,
  • the significant, lifelong impact on parents,
  • the well-known implications of poor antenatal mental health, and
  • the potential impact of poor maternal antenatal mental health on a baby’s neurodevelopment and outcomes, [7] confounding the increased likelihood of developmental differences in babies with congenital anomalies.

Despite this need, neither of the two national current clinical practice guidelines Clinical Practice Guidelines: Pregnancy Care [8] or Mental Health Care in the Prenatal Period, [9] provide guidance on preventing, treating or managing distress or mental illness related to prenatal diagnosis. While the National Stillbirth Action and Implementation Plan [10] notes that congenital anomalies are the leading cause of stillbirth, it makes no recommendations for support following a diagnosis. The recent ACSQHC Stillbirth Clinical Care Guideline draft also failed to acknowledge prenatal diagnosis as either a risk factor for stillbirth or recognise the needs of parents who receive a life-limiting anomaly diagnosis, who need care at that point – not just after stillbirth. We are pleased to say, ACSQHC added this important information after the consultation period – in which we submitted detailed information and recommendations. 

The ‘Chromosomal Anomalies’ section of the Clinical Practice Guidelines: Pregnancy Care recommends ongoing training for professionals and awareness of language used when a high chance of chromosomal anomaly is identified. It recommends a handout for parents receiving a prenatal diagnosis [11] which has several deficiencies, including outdated information, language that increases distress, and contact details for an organisation that no longer exists. No further information is offered in the practice guideline item on structural anomalies, nor mention of the impact on mental health.

In a submission to the Victorian Inquiry into Perinatal Services, [12] the Australian Sonographers Association identified a need for training on communication following a fetal anomaly diagnosis, highlighting the risk to women’s mental health and wellbeing. The inquiry committee made recommendations for bereavement training but no comment regarding prenatal diagnosis.

There is a significant training gap:

  • 32% of Australian sonographers had communicated a finding of a congenital anomaly to parents in the preceding month, yet only 13.3% had received training on the delivery of unexpected news before qualifying. [13]
  • While termination after an anomaly is explored in COPE’s Perinatal Loss in Practice training, no current modules explore the psychosocial aspects of communicating unexpected news, decision-making or continuing a pregnancy following prenatal diagnosis.
  • There is no available prenatal diagnosis-specific training for mental health professionals.
  • Australian fetal medicine specialists voiced compassion fatigue, burnout and a need for further training due to the emotional toll of supporting parents through distress. [14]

The absence of guidelines and training leaves healthcare providers inadequately prepared to provide non-stigmatising, evidence-informed care, increasing the risk of trauma and distress.

  1. Aite, L., Zaccara, A., Mirante, N., Nahom, A., Trucchi, A., Capolupo, I., & Bagolan, P. (2011). Antenatal diagnosis of congenital anomaly: a really traumatic experience? Journal of Perinatology, 31(12), 760-763. https://doi.org/10.1038/jp.2011.22
  2. Kaasen, A., Helbig, A., Malt, U. F., Naes, T., Skari, H., & Haugen, G. (2017). Maternal psychological responses during pregnancy after ultrasonographic detection of structural fetal anomalies: A prospective longitudinal observational study. PLoS One, 12(3), e0174412. https://doi.org/10.1371/journal.pone.0174412
  3. Rychik, J., Donaghue, D. D., Levy, S., Fajardo, C., Combs, J., Zhang, X., Szwast, A., & Diamond, G. S. (2013, Feb). Maternal psychological stress after prenatal diagnosis of congenital heart disease. Journal of Pediatrics, 162(2), 302-307 e301. https://doi.org/10.1016/j.jpeds.2012.07.023
  4. Horsch, A., Brooks, C., & Fletcher, H. (2013, Dec). Maternal coping, appraisals and adjustment following diagnosis of fetal anomaly. Prenatal Diagnosis, 33(12), 1137-1145. https://doi.org/10.1002/pd.4207
  5. Skari, H., Malt, U. F., Bjornland, K., Egeland, T., Haugen, G., Skreden, M., Dalholt Bjork, M., Bjornstad Ostensen, A., & Emblem, R. (2006, Nov). Prenatal diagnosis of congenital malformations and parental psychological distress–a prospective longitudinal cohort study. Prenatal Diagnosis, 26(11), 1001-1009. https://doi.org/10.1002/pd.1542
  6. Kristjansdottir, H., & Gottfredsdottir, H. (2014, Jun). Making sense of the situation: women’s reflection of positive fetal screening 11-21 months after giving birth. Midwifery, 30(6), 643-649. https://doi.org/10.1016/j.midw.2013.10.024
  7. Kasparian, N. A. (2019). Heart care before birth: A psychobiological perspective on fetal cardiac diagnosis. Progress in Pediatric Cardiology, 54. https://doi.org/10.1016/j.ppedcard.2019.101142
  8. Department of Health. (2018). Clinical Practice Guidelines: Pregnancy Care. Australian Government Department of Health. https://www.health.gov.au/resources/collections/pregnancy-care-guidelines-and-related-documents
  9. Centre of Perinatal Excellence. (2017). Mental health care in the perinatal period: Australian clinical practice guideline. https://www.cope.org.au/wp-content/uploads/2018/05/COPE-Perinatal-MH-Guideline_Final-2018.pdf
  10. Department of Health. (2020). National Stillbirth Action and Implementation Plan. https://www1.health.gov.au/internet/main/publishing.nsf/Content/1EA9D237C5483F12CA257BF0001FA12B/$File/National%20Stillbirth%20Plan.pdf
  11. SAFDA. (2006). Diagnosis of abnormality in an unborn baby: The impact, options and afterwards. https://www.genetics.edu.au/individuals-and-families/SAFDAImpactOptionsAfterwards.pd
  12. Parliament of Victoria. (2018). Inquiry into perinatal services: final report.
  13. Thomas, S., O’Loughlin, K., & Clarke, J. (2020). Factors that Influence the Communication of Adverse Findings in Obstetrics: A Survey of Current Sonographer Practices in Australia. Journal of Diagnostic Medical Sonography, 36(3), 199-209. https://doi.org/10.1177/8756479320905816
  14. Menezes, M. A., Hodgson, J. M., Sahhar, M., & Metcalfe, S. A. (2013). “Taking its toll”: the challenges of working in fetal medicine. Birth, 40(1), 52-60. https://doi.org/10.1111/birt.12029
  15. Horsch, A., Brooks, C., & Fletcher, H. (2013). Maternal coping, appraisals and adjustment following diagnosis of fetal anomaly. Prenatal Diagnosis, 33(12), 1137-1145. https://doi.org/10.1002/pd.4207
  16. Fontoura, F. C., Cardoso, M. V. L. M. L., Rodrigues, S. E., Almeida, P. C. d., & Carvalho, L. B. (2018). Anxiety of mothers of newborns with congenital malformations in the pre- and postnatal periods. Revista Latino-Americana De Enfermagem, 26, e3080-e3080. https://doi.org/10.1590/15188345.2482.3080
  17. Beauquier-Maccotta, B., Schultz, J., De Wailly, D., Meriot, M-E., Soubieuz, M-J. Ouss, L., Grosmaitre, C., Salomon, L.J., Golse, B., Ville, Y. & Missoner, S. (2022). Prenatal attachment, anxiety and grief during subsequent pregnancy after medical termination of pregnancy. Attachment to which child? Journal of Gynecology Obstetrics and Human Reproduction, 51,
    102353. https://doi.org/10.1016/j.jogoh.2022.102353