Parents' perspectives on the unforeseen finding of a fetal sex chromosomal aneuploidy

Pieters, J.J.P.M.; Kooper, Angelique J. A.; Eggink, Alex J.; Verhaak, Chris M.; Otten, Barto J.; Braat, D.D.M.; Smits, A.P.T.; Leeuwen, Evert van

doi:10.1002/pd.2707

Cited by 18 publications

(14 citation statements)

References 22 publications

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“…In light of this highly individualized process and the limited window to terminate, an accurate understanding of risk is vital. Consistent with previous research, participants who believed they had resources to identify and manage problems early were more confident in proceeding with their pregnancy (McCoyd 2008; Pieters et al 2011). …”

Section: Discussionsupporting

confidence: 80%

“Something Extra on Chromosome 5”: Parents’ Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results

Walser

Werner‐Lin

Russell

et al. 2016

Journal of Genetic Counseling

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This study aims to explore how couples’ understanding of the nature and consequences of positive prenatal chromosomal microarray analysis (CMA) results impacts decision-making and concern about pregnancy. We interviewed 28 women and 12 male partners after receiving positive results and analyzed the transcripts to assess their understanding and level of concern about the expected clinical implications of results. Participant descriptions were compared to the original laboratory interpretation. When diagnosed prenatally, couples’ understanding of the nature and consequences of copy number variants (CNVs) impacts decision-making and concern. Findings suggest women, but less so partners, generally understand the nature and clinical implications of prenatal CMA results. Couples feel reassured, perhaps sometimes falsely so, when a CNV is inherited from a “normal” parent and experience considerable uncertainty when a CNV is de novo, frequently precipitating a search for additional information and guidance. Five factors influenced participants’ concern including: the pattern of inheritance, type of possible phenotypic involvement, perceived manageability of outcomes, availability and strength of evidence about outcomes associated with the CNV, and provider messages about continuing the pregnancy. A good understanding of results is vital as couples decide whether or not to continue with their pregnancy and seek additional information to assist in pregnancy decision-making.

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Section: Discussionsupporting

confidence: 80%

“Something Extra on Chromosome 5”: Parents’ Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results

Walser

Werner‐Lin

Russell

et al. 2016

Journal of Genetic Counseling

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show abstract

“…As suggested by Skotko, one explanation could be that the TOP decision is relatively common in this context and is thus a routine one for clinicians who feel comfortable in supporting couples in this situation. Couples who choose to continue the pregnancy may experience the decision‐making, diagnostic process, and interactions with clinicians quite differently . In Denmark, only 2‐9 couples annually choose to continue the pregnancy following a prenatal DS diagnosis .…”

Section: Discussionmentioning

confidence: 99%

Termination of pregnancy following a prenatal diagnosis of Down syndrome: A qualitative study of the decision‐making process of pregnant couples

Lou

Carstensen

Petersen

et al. 2018

Acta Obstet Gynecol Scand

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“…[15][16][17]22,36 This qualitative study provides important insight into parents' experiences of the vital role that the presence of obvious or explicit physical features in childhood has in facilitating a timely diagnosis for their child. Under-diagnosis and delay in diagnosis for individuals with KS is more likely in the presence of non-classical or nonspecific physical features, or when only non-physical features such as language and learning problems, or other features outlined in Table 2 are present.…”

Section: Discussionmentioning

confidence: 99%

“…Despite preexisting research regarding the diagnostic process for a variety of other conditions, [19][20][21] there is limited research focusing specifically on parents' experiences of the diagnostic process of KS and its impact. Of the few published studies that do relate to KS, the focus was on a specific time point of diagnosis such as prenatally, 22 or studied more than one condition, such as all sex chromosome abnormalities. 18 The aim of this study was to gain an in-depth understanding of parents' experiences of the diagnostic process and its impact.…”

Section: Introductionmentioning

confidence: 99%

A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis

et al. 2013

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Klinefelter syndrome (KS) is a common genetic condition that is currently under-diagnosed. The phenotype is broad, with physical, medical and psychosocial features ranging from mild to severe. When a child is diagnosed with KS, the parents may spend months to years searching for a diagnosis. This study used a qualitative methods approach to explore parents' experiences of having a child with KS and receiving a diagnosis. Fifteen semistructured one-to-one in-depth interviews were conducted to explore their experiences and views. The interviews were then transcribed, coded and thematically analysed. The interviews revealed that parents had diverse experiences related to: the timing of the diagnosis of their child and reasons why their child was investigated for KS; the information that was provided at the time of diagnosis; the supports that were available and the concerns that parents held for the future of their child. The conclusions from this study were that parents' experiences of having a child with KS and receiving a diagnosis were complex and multifaceted. This experience was shaped by the timing of when the diagnosis was received, who provided the diagnosis, what information was provided from health-care professionals and that which parents may have encountered on the internet. The long-term experiences for parents were also impacted by the level of support they received. These findings have implications for the process by which KS is recognised by the health-care community and supports available for families.

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Parents' perspectives on the unforeseen finding of a fetal sex chromosomal aneuploidy

Cited by 18 publications

References 22 publications

“Something Extra on Chromosome 5”: Parents’ Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results

“Something Extra on Chromosome 5”: Parents’ Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results

Termination of pregnancy following a prenatal diagnosis of Down syndrome: A qualitative study of the decision‐making process of pregnant couples

A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis

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