Resident Physiciansʼ Competencies and Attitudes in Delivering a Postnatal Diagnosis of Down Syndrome

Ferguson, James; Kleinert, Harold L.; Lunney, Carol A.; Campbell, Lynn

doi:10.1097/01.aog.0000235709.55395.6a

Cited by 29 publications

(33 citation statements)

References 10 publications

(13 reference statements)

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“…Upon their child's diagnosis, parents should be given information about symptoms and health complications of DS so that they can recognise and understand these features and seek appropriate support and treatment where necessary for the optimal well-being of the child (Skotko et al 2009). Such information provision could be improved by ensuring HCPs in Pakistan are trained with up to date, accurate knowledge of DS and are able to communicate this in a sensitive manner, where parents can understand the implications for their child (Choi et al 2011;Ferguson et al 2006;Skotko et al 2009). There are challenges in providing information about DS because of the variability of the symptoms and severity of the condition.…”

Section: Discussionmentioning

confidence: 99%

Pakistani mothers’ and fathers’ experiences and understandings of the diagnosis of Down syndrome for their child

Ahmed

Jafri

et al. 2014

J Community Genet

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Down syndrome (DS) is a relatively common chromosomal condition, which can be diagnosed prenatally. However, little is known about the diagnosis of the condition in developing countries. This qualitative study explored parents' experiences of the diagnosis of DS in Pakistan. Fifteen mothers and fifteen fathers of children with DS had semistructured interviews, which were analysed using thematic analysis. All the parents received their child's diagnosis after birth, ranging from the postnatal period to 7 years of age. Parents recalled receiving little or no information at the time of diagnosis, leading to misunderstandings about the cause and nature of their child's condition. Some parents referred to their child being "Mongol" and were unaware of "Down syndrome" as the more appropriate term for the condition. Use of such terms for DS restricted parents' ability to source further information about the condition. Many parents showed poor understanding of the aetiology and prognosis of the condition. Improved training for healthcare professionals in recognising key features of DS in the neonatal period or in early childhood could enable earlier diagnosis of the condition. In addition, provision of accurate information in a sensitive manner following diagnosis could enable parents to optimise their child's well-being.

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Section: Discussionmentioning

confidence: 99%

Pakistani mothers’ and fathers’ experiences and understandings of the diagnosis of Down syndrome for their child

Ahmed

Jafri

et al. 2014

J Community Genet

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“…These projects were funded by federal grants and efficacy was researched and published. 66,67 Down syndrome healthcare guidelines. "Healthcare Supervision for Children with Down Syndrome" (http:// pediatrics.aappublications.org/content/128/2/393).…”

Section: Provider Resourcesmentioning

confidence: 99%

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Gregg

Skotko

Benkendorf

et al. 2016

Genetics in Medicine

581

560

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guidelines and statements have assisted patients seeking prenatal screening information and health-care providers responsible for providing accurate and up-to-date information to their patients. [1][2][3] Until recently, noninvasive prenatal screening for aneuploidy relied on measurements of maternal serum analytes and/or ultrasonography. These have a false-positive rate of approximately 5% and detection rates of 50-95%, depending on the specific screening strategy used. Advances in genomic technologies led to noninvasive prenatal screening that relies on the presence of cell-free DNA derived from the placenta but circulating in maternal blood, which is referred to here as noninvasive prenatal screening (NIPS). Massive parallel sequencing of maternal and placental (also called fetal when speaking of the fraction of this DNA in maternal blood) fragments of DNA occurs simultaneously. Sequencing with quantification can be random, targeted, and followed by quantification or exploitation of single-nucleotide polymorphisms. [4][5][6][7][8] Alternatively, sequencing can take place by measuring the release of hydrogen ions as nucleotides are added to a DNA template (i.e., semiconductor sequencing). 9 Microarray technology can also be used to quantify DNA. 10 Bioinformatics that enable these methodologies is complex and proprietary. Since the introduction of NIPS in 2011, health-care providers and patients have experienced marketing pressures, rapidly evolving professional practice guidelines, and confusion regarding the appropriate role of Noninvasive prenatal screening using cell-free DNA (NIPS) has been rapidly integrated into prenatal care since the initial American College of Medical Genetics and Genomics (ACMG) statement in 2013. New evidence strongly suggests that NIPS can replace conventional screening for Patau, Edwards, and Down syndromes across the maternal age spectrum, for a continuum of gestational age beginning at 9-10 weeks, and for patients who are not significantly obese. This statement sets forth a new framework for NIPS that is supported by information from validation and clinical utility studies. Pretest counseling for NIPS remains crucial; however, it needs to go beyond discussions of Patau, Edwards, and Down syndromes. The use of NIPS to include sex chromosome aneuploidy screening and screening for selected copy-number variants (CNVs) is becoming commonplace because there are no other screening options to identify these conditions. Providers should have a more thorough understanding of patient preferences and be able to educate about the current drawbacks of NIPS across the prenatal screening spectrum. Laboratories are encouraged to meet the needs of providers and their patients by delivering meaningful screening reports and to engage in education. With health-care-provider guidance, the patient should be able to make an educated decision about the current use of NIPS and the ramifications of a positive, negative, or no-call result. Genet Med advance online publication 28 July 2016Key Words: cell-f...

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“…The residents' knowledge and comfort levels were assessed by using pre and post-test with an education CD-ROM. 7 After 6 years, DSI has been modified by Lunney et al and has been accepted as a research with web-based tutorial. In that study, Lunney has found the mean discomfort levels of residents 23.05 with the highest discomfort level 35.…”

Section: Discussionmentioning

confidence: 99%

“…Optimistic feelings encourage healthy parent child relationship and optimal emotions, growth and development. 13 The post-tests in Lunney and Ferguson researches' have shown that the comfort levels of residents have increased with the educations by CD-ROM or web-based tutorial 7 . Our survey differed from the original in that we could not test the knowledge level of residents about DS due to a technical impossibility.…”

Section: Discussionmentioning

confidence: 99%

“…Diagnostic Situations Inventory was developed by Ferguson et al from USA and was used for improving pediatrics and obstetrics residents' understanding of issues, comfort levels and patient needs regarding screening for and diagnosing DS. 7 The ultimate goal of this study was to generate a better perception about delivering news in a sensitive and appropriate manner to the families who have children with newly diagnosed DS among pediatrics residents in eastern countries.…”

Section: Introductionmentioning

confidence: 99%

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Communication skills of residents to families with Down syndrome babies

et al. 2016

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Background. Generally, pediatricians are the first health caregivers to deliver initial diagnosis of Down syndrome (DS) to the families. However, most of the parents are not satisfied with the contents and how they receive information when their child is born with DS. Pediatric residents should target educational interventions to help parents to overcome with these issues and to provide accurate information. The objective is to assess comfort levels and training requirements of pediatric residents to communicate with parents of babies born with Down syndrome. Methods. Diagnostic Situations Inventory (DSI) is a rating scale which included ten questions to assess discomfort level. A survey was sent via mobile, websites and all the social media which were available to all pediatrics residents in the country. Socio-demographic factors including information about training requirement were collected as well. Results. From the 326 participants, total mean discomfort level was 30.22 in DSI out of 50 which was the highest score. Discomfort level was significantly increased in female participants (p= 0.033). Being female (p= 0.014), having less residency level (p= 0.028), examining less number of patients with Down syndrome (p= 0.025) and having higher discomfort levels (p= 0.001) were found to be related with increased training requirement. From the residents, 84% declared the need for additional training. Conclusions. This study showed that pediatric residents had a high level of discomfort when communicating with parentes of newborn with Down Syndrome. Female residentes had a discomfort level significantly higher than male residentes.

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Resident Physiciansʼ Competencies and Attitudes in Delivering a Postnatal Diagnosis of Down Syndrome

Abstract: II-3.

Cited by 29 publications

References 10 publications

Pakistani mothers’ and fathers’ experiences and understandings of the diagnosis of Down syndrome for their child

Pakistani mothers’ and fathers’ experiences and understandings of the diagnosis of Down syndrome for their child

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Communication skills of residents to families with Down syndrome babies

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