Literature DB >> 18154892

Is Down syndrome a disappearing birth defect?

Veronica R Collins1, Evelyne E Muggli, Merilyn Riley, Sonia Palma, Jane L Halliday.   

Abstract

OBJECTIVE: To assess trends in the prevalence of Down syndrome (DS) from 1986 to 2004 in Victoria, Australia (population approximately 5 million). STUDY
DESIGN: The Victorian Birth Defects Register and the Prenatal Diagnosis Database were linked to ascertain all cases of DS. Total and birth prevalence estimates were calculated per year and presented as 3-year moving averages.
RESULTS: The total number of cases of DS increased from 113 in 1986 to 188 in 2004. The number of births declined over the first decade of the study, particularly in younger women, but total numbers have fluctuated between 45 and 60 births since 1996. In women under age 35 years, total prevalence was 10/10,000 until 1997 and then increased to 12.5/10,000. In older women, total prevalence increased from 70/10,000 to 90/10,000 in this time frame. Birth prevalence declined at first but remained relatively stable in the later years of the study. The proportion of cases diagnosed prenatally increased from 3% to 60% in younger women.
CONCLUSIONS: Our findings demonstrate the continuing need to devote resources to support individuals with DS and their families.

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Year:  2007        PMID: 18154892     DOI: 10.1016/j.jpeds.2007.07.045

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  8 in total

1.  Functional genomic analysis of amniotic fluid cell-free mRNA suggests that oxidative stress is significant in Down syndrome fetuses.

Authors:  Donna K Slonim; Keiko Koide; Kirby L Johnson; Umadevi Tantravahi; Janet M Cowan; Zina Jarrah; Diana W Bianchi
Journal:  Proc Natl Acad Sci U S A       Date:  2009-05-27       Impact factor: 11.205

2.  Trends in maternal age distribution and the live birth prevalence of Down's syndrome in England and Wales: 1938-2010.

Authors:  Jianhua Wu; Joan K Morris
Journal:  Eur J Hum Genet       Date:  2013-01-30       Impact factor: 4.246

Review 3.  Down syndrome.

Authors:  Stylianos E Antonarakis; Brian G Skotko; Michael S Rafii; Andre Strydom; Sarah E Pape; Diana W Bianchi; Stephanie L Sherman; Roger H Reeves
Journal:  Nat Rev Dis Primers       Date:  2020-02-06       Impact factor: 52.329

Review 4.  Clinical practice. The care of children with Down syndrome.

Authors:  Michel E Weijerman; J Peter de Winter
Journal:  Eur J Pediatr       Date:  2010-07-15       Impact factor: 3.183

5.  Pregnancy Outcome following Prenatal Diagnosis of Chromosomal Anomaly: A Record Linkage Study of 26,261 Pregnancies.

Authors:  Myrthe Jacobs; Sally-Ann Cooper; Ruth McGowan; Scott M Nelson; Jill P Pell
Journal:  PLoS One       Date:  2016-12-01       Impact factor: 3.240

6.  Trends in Down's syndrome live births and antenatal diagnoses in England and Wales from 1989 to 2008: analysis of data from the National Down Syndrome Cytogenetic Register.

Authors:  Joan K Morris; Eva Alberman
Journal:  BMJ       Date:  2009-10-26

7.  Are de novo rea(21;21) chromosomes really de novo?

Authors:  Bérénice Hervé; Thibaud Quibel; Stéphane Taieb; Mireille Ruiz; Denise Molina-Gomes; François Vialard
Journal:  Clin Case Rep       Date:  2015-08-26

Review 8.  Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?

Authors:  Melissa Hill; Angela Barrett; Mahesh Choolani; Celine Lewis; Jane Fisher; Lyn S Chitty
Journal:  Prenat Diagn       Date:  2017-12       Impact factor: 3.050

  8 in total

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