Parental response to severe or lethal prenatal diagnosis: a systematic review of qualitative studies

Lou, Stina; Jensen, Lotte; Petersen, Olav Bjørn; Vogel, Ida; Hvidman, Lone; Møller, Anne; Nielsen, Charlotte

doi:10.1002/pd.5093

Cited by 34 publications

(59 citation statements)

References 62 publications

(191 reference statements)

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“…Our findings regarding parents' needs concur with results from an integrative review into mothers' experiences of prenatal diagnoses which found that HCPs' communication skills helped them cope 13 . Our results also converge with a review of qualitative studies into experiences of lethal prenatal diagnoses, which suggested that parents valued timely, written information about the diagnosis 14 . In line with a literature review into breaking bad news in prenatal settings, our results suggested that expectant parents wanted HCPs to communicate their findings in clear but sensitive terms 15 .…”

Section: Discussionsupporting

confidence: 83%

Delivering unexpected news via obstetric ultrasound: A systematic review and meta‐ethnographic synthesis of expectant parent and staff experiences

et al. 2020

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Expectant parents report negative experiences of receiving unexpected news via ultrasound. There is a need to improve communication in this setting, but a lack of understanding on how to achieve this. This systematic review aimed to synthesise findings from qualitative studies exploring experiences of expectant parents or healthcare professionals when a fetal abnormality or unexpected finding was identified via ultrasound. MEDLINE, EMBASE, CINAHL and PsycINFO were searched using three blocks of terms (fetal abnormalities; ultrasound; experiences). Qualitative studies exploring the disclosure of pregnancy complications during ultrasound examinations were included and analysed using meta‐ethnographic synthesis. The review was conducted according to PRISMA and eMERGe guidelines. The review identified 28 studies. News delivered via ultrasound can be viewed as a journey involving five phases (expectations of ultrasound scans; discovery; shock; decisions and planning; adaptation). How well this is navigated depends upon the extent to which information needs and support needs are met. Ultrasound is a uniquely challenging situation to communicate difficult news as there is the potential for news to be communicated immediately. Care quality could be improved by the provision of written information and the use of correct terminology to describe abnormalities.

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Section: Discussionsupporting

confidence: 83%

Delivering unexpected news via obstetric ultrasound: A systematic review and meta‐ethnographic synthesis of expectant parent and staff experiences

et al. 2020

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“…We have mainly experienced how WES provided couples with informed reproductive choices enabling compassionate care of the newborn. Parents express a better coping with the situation when knowing the diagnosis of the child 15,18 . We have also experienced that a normal result of WES caused some relief in the light of a decreased risk of many severe diagnoses.…”

Section: Discussionmentioning

confidence: 99%

“…The geneticist/counselor must have confidence in a pathogenic genetic result even without a supportive fetal phenotype, but must also be cautious of wrong interpretations and insist on reverse phenotyping when necessary. The health professionals need to develop skills in how to communicate with pregnant women in a new territory of uncertainty, urgency, and few options 18,26,27 . Additional collaborations need to be formed between neonatologists, midwives, and the prenatal and genetic teams.…”

Section: Discussionmentioning

confidence: 99%

Implementation of exome sequencing in fetal diagnostics—Data and experiences from a tertiary center in Denmark

Becher

Andreasen

Sandager

et al. 2020

Acta Obstet Gynecol Scand

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Introduction:Applying whole-exome sequencing (WES) for the diagnosis of diseases in children has shown significant diagnostic strength compared with chromosomal microarray. WES may also have the potential of adding clinically relevant prenatal information in cases where a fetus is found to have structural anomalies. We present results from the first fetal exomes performed in a tertiary center in Denmark. Material and methods: Couples/expectant parents were included in Central DenmarkRegion from July 2016 to March 2019. Inclusion was not systematic, but where one or more fetal malformations or severe fetal hydrops were detected, and a specific diagnosis had not been obtained by chromosomal microarray. WES was performed in ongoing pregnancies (N = 11), after intrauterine demise (N = 5), or after termination of pregnancy based on ultrasound findings (N = 19). In most cases, a trio format was applied comprising fetal and parental DNA.Results: WES was performed in 35 highly selected fetal cases. Pathogenic variants, or variants likely to explain the phenotype, were detected in 9/35 (26%). Variants of uncertain significance were detected in 7/35 (20%) and there was one secondary finding (3%). Out of the 11 ongoing pregnancies, four reached a genetic diagnosis (36%). Detection rate was highest in cases of multisystem anomalies (7/13, 54%).WES was completed in all three trimesters and both autosomal dominant, autosomal recessive and X-linked inheritance were revealed. Conclusions:We present data from 35 cases of exome sequencing applied in a setting of fetal malformations. Importantly, though, we wish to share our personal experiences with implementing WES into a prenatal setting. As a medical society, we must continue to share what we do not understand, what went wrong, what is difficult, and what we do not agree upon. A common understanding and language are warranted. We also advocate that more research is needed concerning the clinical value, as well as costs and patient perspectives, of using WES in pregnancy. We believe that WES will lead to improved prenatal and perinatal care. How to cite this article: Becher N, Andreasen L, Sandager P, et al. Implementation of exome sequencing in fetal diagnostics-Data and experiences from a tertiary center in Denmark. Acta Obstet Gynecol Scand. 2020;99:783-790.

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“…A recent systematic review found that parents who choose to continue the pregnancy following a severe diagnosis – such as DS – requested timely and adequate information, and continued and empathic interactions with clinicians . In Denmark, the number of women and couples who choose to continue the pregnancy is very low, and it is very important that the needs of this subpopulation are not overlooked and that the decision to continue is positively supported and legitimized by clinicians.…”

Section: Discussionmentioning

confidence: 99%

National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973–2016 in Denmark

Lou

Petersen

Jørgensen

et al. 2018

Acta Obstet Gynecol Scand

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Parental response to severe or lethal prenatal diagnosis: a systematic review of qualitative studies

Abstract: Clinicians can support parental coping following a severe prenatal diagnosis through continued dialogue and collaboration. Further research is needed on the experiences of parents who choose to terminate a pregnancy following prenatal diagnosis. © 2017 John Wiley & Sons, Ltd.

Cited by 34 publications

References 62 publications

Delivering unexpected news via obstetric ultrasound: A systematic review and meta‐ethnographic synthesis of expectant parent and staff experiences

Delivering unexpected news via obstetric ultrasound: A systematic review and meta‐ethnographic synthesis of expectant parent and staff experiences

Implementation of exome sequencing in fetal diagnostics—Data and experiences from a tertiary center in Denmark

National screening guidelines and developments in prenatal diagnoses and live births of Down syndrome in 1973–2016 in Denmark

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