Literature DB >> 8723068

Rates of Down syndrome at livebirth by one-year maternal age intervals in studies with apparent close to complete ascertainment in populations of European origin: a proposed revised rate schedule for use in genetic and prenatal screening.

C A Hecht1, E B Hook.   

Abstract

Precision and accuracy in determining rates of Down syndrome at livebirth are indispensible to algorithms which determine eligibility for prenatal cytogenetic diagnostic services. We derived Down syndrome rates by single year of maternal age which we propose as a revised rate schedule for background risk. Data on European-origin populations were obtained from 5 sources judged most likely to have complete ascertainment of cases. A "constant plus exponent" regression model and variants extending the analysis to higher powers of maternal age were applied to several ranges of maternal age. Confidence intervals about the rates were calculated. This analysis results in rates significantly higher than those in widespread use though the confidence intervals show a need for caution in assuming precision. Sources of variation in rates are also considered.

Mesh:

Year:  1996        PMID: 8723068     DOI: 10.1002/(SICI)1096-8628(19960424)62:4<376::AID-AJMG10>3.0.CO;2-L

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  16 in total

1.  International variation in reported livebirth prevalence rates of Down syndrome, adjusted for maternal age.

Authors:  A D Carothers; C A Hecht; E B Hook
Journal:  J Med Genet       Date:  1999-05       Impact factor: 6.318

2.  Current estimate of Down Syndrome population prevalence in the United States.

Authors:  Angela P Presson; Ginger Partyka; Kristin M Jensen; Owen J Devine; Sonja A Rasmussen; Linda L McCabe; Edward R B McCabe
Journal:  J Pediatr       Date:  2013-07-23       Impact factor: 4.406

3.  Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan.

Authors:  Takahiro Yamada; Akihiko Sekizawa; Yosuke Fujii; Tatsuko Hirose; Osamu Samura; Nobuhiro Suzumori; Kiyonori Miura; Hideaki Sawai; Fumiki Hirahara; Jun Murotsuki; Yoshimasa Kamei; Haruhiko Sago
Journal:  J Hum Genet       Date:  2018-05-30       Impact factor: 3.172

4.  An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies.

Authors:  Bernhard Steiner; Rahim Masood; Kaspar Rufibach; Dunja Niedrist; Oliver Kundert; Mariluce Riegel; Albert Schinzel
Journal:  Eur J Hum Genet       Date:  2014-07-09       Impact factor: 4.246

5.  Study of stillbirth and major congenital anomaly among newborns in the high-level natural radiation areas of Kerala, India.

Authors:  G Jaikrishan; K R Sudheer; V J Andrews; P K M Koya; M Madhusoodhanan; C K Jagadeesan; M Seshadri
Journal:  J Community Genet       Date:  2012-08-09

6.  The Incidence of Cardiac Lesions among Children with Down's Syndrome in Jamaica - A Prospective Study.

Authors:  C Scott; M Thame
Journal:  West Indian Med J       Date:  2015-08-26       Impact factor: 0.171

7.  Selected birth defects data from population-based birth defects surveillance programs in the United States, 2006 to 2010: featuring trisomy conditions.

Authors:  Cara T Mai; James E Kucik; Jennifer Isenburg; Marcia L Feldkamp; Lisa K Marengo; Erin M Bugenske; Phoebe G Thorpe; Jodi M Jackson; Adolfo Correa; Russel Rickard; C J Alverson; Russell S Kirby
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2013-11

Review 8.  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

9.  Possible risk factors for Down syndrome and sex chromosomal aneuploidy in Mysore, South India.

Authors:  Suttur S Malini; Nallur B Ramachandra
Journal:  Indian J Hum Genet       Date:  2007-09

10.  Primary prevention of Down's syndrome.

Authors:  Howard S Cuckle
Journal:  Int J Med Sci       Date:  2005-07-01       Impact factor: 3.738

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