Delivering the Diagnosis of Sex Chromosome Aneuploidy

Experiences and Preferences of Parents and Individuals

Carolina Jaramillo, Christina Nyquist, Kirsten A. Riggan, Jason Egginton, Sean M Phelan, Megan Allyse

Research output: Contribution to journalArticle

Abstract

Increased prenatal diagnoses of sex chromosome aneuploidies (SCAs) amid limited knowledge of their prognoses heighten the need to understand how families contend with the implications of an SCA. To explore the experiences of parents and individuals who received a genetic diagnosis of an SCA (excluding Turner syndrome), we conducted semistructured qualitative telephone interviews with 43 participants affected by these conditions. Parents (n = 35) and individuals (n = 8) expressed almost unanimous interest in more optimistic portrayals of their condition from their providers, even when the prognosis is uncertain. While some participants reported success in receiving accurate information from their provider and identifying supportive resources, numerous families received outdated or misleading information about their condition and lacked direction in accessing follow-up care and support. Parents desire greater coordination of their child’s medical care and access to care that approaches an SCA holistically. Opportunities remain to improve the diagnosis and care of individuals with SCAs.

Original languageEnglish (US)
JournalClinical Pediatrics
DOIs
StateAccepted/In press - Jan 1 2018

Fingerprint

Sex Chromosomes
Aneuploidy
Parents
Aftercare
Turner Syndrome
Child Care
Prenatal Diagnosis
Interviews

Keywords

  • Jacob’s syndrome
  • Klinefelter syndrome
  • pediatric diagnosis
  • prenatal diagnosis
  • trisomy X

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Delivering the Diagnosis of Sex Chromosome Aneuploidy : Experiences and Preferences of Parents and Individuals. / Jaramillo, Carolina; Nyquist, Christina; Riggan, Kirsten A.; Egginton, Jason; Phelan, Sean M; Allyse, Megan.

In: Clinical Pediatrics, 01.01.2018.

Research output: Contribution to journalArticle

@article{9ebeb083168c48edb27219baac086345,
title = "Delivering the Diagnosis of Sex Chromosome Aneuploidy: Experiences and Preferences of Parents and Individuals",
abstract = "Increased prenatal diagnoses of sex chromosome aneuploidies (SCAs) amid limited knowledge of their prognoses heighten the need to understand how families contend with the implications of an SCA. To explore the experiences of parents and individuals who received a genetic diagnosis of an SCA (excluding Turner syndrome), we conducted semistructured qualitative telephone interviews with 43 participants affected by these conditions. Parents (n = 35) and individuals (n = 8) expressed almost unanimous interest in more optimistic portrayals of their condition from their providers, even when the prognosis is uncertain. While some participants reported success in receiving accurate information from their provider and identifying supportive resources, numerous families received outdated or misleading information about their condition and lacked direction in accessing follow-up care and support. Parents desire greater coordination of their child’s medical care and access to care that approaches an SCA holistically. Opportunities remain to improve the diagnosis and care of individuals with SCAs.",
keywords = "Jacob’s syndrome, Klinefelter syndrome, pediatric diagnosis, prenatal diagnosis, trisomy X",
author = "Carolina Jaramillo and Christina Nyquist and Riggan, {Kirsten A.} and Jason Egginton and Phelan, {Sean M} and Megan Allyse",
year = "2018",
month = "1",
day = "1",
doi = "10.1177/0009922818817310",
language = "English (US)",
journal = "Clinical Pediatrics",
issn = "0009-9228",
publisher = "SAGE Publications Inc.",

}

TY - JOUR

T1 - Delivering the Diagnosis of Sex Chromosome Aneuploidy

T2 - Experiences and Preferences of Parents and Individuals

AU - Jaramillo, Carolina

AU - Nyquist, Christina

AU - Riggan, Kirsten A.

AU - Egginton, Jason

AU - Phelan, Sean M

AU - Allyse, Megan

PY - 2018/1/1

Y1 - 2018/1/1

N2 - Increased prenatal diagnoses of sex chromosome aneuploidies (SCAs) amid limited knowledge of their prognoses heighten the need to understand how families contend with the implications of an SCA. To explore the experiences of parents and individuals who received a genetic diagnosis of an SCA (excluding Turner syndrome), we conducted semistructured qualitative telephone interviews with 43 participants affected by these conditions. Parents (n = 35) and individuals (n = 8) expressed almost unanimous interest in more optimistic portrayals of their condition from their providers, even when the prognosis is uncertain. While some participants reported success in receiving accurate information from their provider and identifying supportive resources, numerous families received outdated or misleading information about their condition and lacked direction in accessing follow-up care and support. Parents desire greater coordination of their child’s medical care and access to care that approaches an SCA holistically. Opportunities remain to improve the diagnosis and care of individuals with SCAs.

AB - Increased prenatal diagnoses of sex chromosome aneuploidies (SCAs) amid limited knowledge of their prognoses heighten the need to understand how families contend with the implications of an SCA. To explore the experiences of parents and individuals who received a genetic diagnosis of an SCA (excluding Turner syndrome), we conducted semistructured qualitative telephone interviews with 43 participants affected by these conditions. Parents (n = 35) and individuals (n = 8) expressed almost unanimous interest in more optimistic portrayals of their condition from their providers, even when the prognosis is uncertain. While some participants reported success in receiving accurate information from their provider and identifying supportive resources, numerous families received outdated or misleading information about their condition and lacked direction in accessing follow-up care and support. Parents desire greater coordination of their child’s medical care and access to care that approaches an SCA holistically. Opportunities remain to improve the diagnosis and care of individuals with SCAs.

KW - Jacob’s syndrome

KW - Klinefelter syndrome

KW - pediatric diagnosis

KW - prenatal diagnosis

KW - trisomy X

UR - http://www.scopus.com/inward/record.url?scp=85060345673&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85060345673&partnerID=8YFLogxK

U2 - 10.1177/0009922818817310

DO - 10.1177/0009922818817310

M3 - Article

JO - Clinical Pediatrics

JF - Clinical Pediatrics

SN - 0009-9228

ER -