Encounters with public and professional understandings of Down syndrome: A qualitative study of parents' experiences.

Background: The meanings of neurodevelopmental conditions are socially and culturally defined. We explored how parents of a child with Down syndrome experienced public and professional understandings of Down syndrome.

Method: Qualitative interviews with 25 parents of a child with Down syndrome living in Denmark.

Sustainability of personal social networks of people with Down syndrome.

Research continues to demonstrate that the characteristics of one's social network could have an impact on the development of Alzheimer's disease. Given the predisposition of people with Down syndrome to develop Alzheimer's disease, analysis of their social networks has become an emerging focus. Previous pilot research demonstrated that the personal networks of people with DS could be quantitatively analyzed, with no difference between self-report and parent-proxy report.

Impact of a prenatal screening program on the Down syndrome phenotype: An interrupted time series analysis.

Introduction: We hypothesized that children with Down syndrome who were born after the implementation of first-trimester combined screening for trisomy 13, 18, and 21 and a second-trimester ultrasound scan in Denmark would show a milder syndrome phenotype. We investigated the birth biometry, prevalence of congenital malformations, and early childhood morbidity of children with Down syndrome before and after implementation of this screening program.

Material And Methods: A nationwide register-based study of all live born singletons with Down syndrome in Denmark from 1995 to 2018.

Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study.

Objective: To examine the extent to which sex chromosomes are included in current noninvasive prenatal testing (NIPT) and the reporting practices with respect to fetal chromosomal sex and sex chromosome aberrations (SCAs), in addition to an update on the general implementation of NIPT.

Method: A questionnaire addressing the research objectives was distributed by email to fetal medicine and clinical genetics experts in Asia, Australia, Europe and the USA.

Results: Guidelines on NIPT are available in the majority of the included countries.

Is the first-trimester combined screening result associated with the phenotype of Down syndrome? A population-based cohort study.

Objective: To investigate if the Down syndrome phenotype differs according to the result of first-trimester combined screening (FTS).

Method: We included all Down syndrome cases diagnosed by karyotype in pregnancy or after birth in Denmark during 2005-2018. We compared screen positive (odds ≥1:300) and screen negative (odds <1:300) cases as well as screen result subgroups with respect to anthropometrics, congenital malformations, childhood diseases, and hospitalization.

Parenting a child with Down syndrome: A qualitative study of everyday practices in Danish families.

Genetic counseling about Down syndrome is suggested to include information on a future family life. However, there is an insufficient knowledge on the potential impact of parenting a child with Down syndrome on parents' everyday practices. We aimed to address this gap by exploring the experienced everyday practices of parents in families where a child has Down syndrome.

Increased prenatal detection of 22q11.2 deletion and 22q11.2 duplication after introduction of nationwide prenatal screening for trisomy 21, trisomy 13, and trisomy 18.

Objective: To evaluate time of diagnosis of 22q11.2 deletion and 22q11.2 duplication as well as trisomies 21, 13, and 18 before and after introduction of a prenatal screening program including combined first-trimester screening (cFTS) for the trisomies in Denmark in 2004.

Prevalence of mosaicism in uncultured chorionic villus samples after chromosomal microarray and clinical outcome in pregnancies affected by confined placental mosaicism.

Objective: To evaluate the prevalence of mosaicism in chorionic villus sampling (CVS) samples after chromosomal microarray (CMA) and clinical outcome of pregnancies affected by confined placental mosaicism.

Method: We retrieved all results from CMA, array-based comparative genomic hybridization, on CVS samples from January 2011 to November 2017 from Central and North Denmark Regions. Mosaic results from uncultured chorionic villi, cytotrophoblasts and mesenchymal cells, after CVS and follow-up on amniocytes, fetal tissue, or postnatal blood were studied and matched with clinical data from The Danish Fetal Medicine Database.

Preadmission antidepressant use and bladder cancer: a population-based cohort study of stage at diagnosis, time to surgery, and surgical outcomes.

Background: Among cancer patients, prior antidepressant use has been associated with impaired survival. This could be due to differences in stage at diagnosis, in receipt of treatment, or in treatment complications. The purpose of this study was, therefore, to examine if preadmission antidepressant use in patients with bladder cancer is associated with tumor stage at diagnosis, rate of cystectomy, and surgical outcomes, including survival.