Literature DB >> 16835915

Congenital malformations among liveborn infants with trisomies 18 and 13.

Stephen J Pont1, James M Robbins, T M Bird, James B Gibson, Mario A Cleves, John M Tilford, Mary E Aitken.   

Abstract

Trisomy 18 and trisomy 13 are associated with serious and/or fatal birth defects, with death frequently occurring in the first month of life. Previous studies are limited by small samples and are dated. This study characterized the comorbid birth defects associated with trisomy 18 and trisomy 13 among US liveborn infants using the Healthcare Cost and Utilization Project's Kids' Inpatient Database and Nationwide Inpatient Sample, two large, current and nationally representative databases. The occurrence of 39 commonly reported comorbid birth defects among infants with trisomies 18 and 13 was compared to the occurrence of malformations among newborns without trisomies. The prevalences of trisomy 18 and 13 were 1.29/10,000 and 0.85/10,000 live births, respectively. Among infants with trisomy 18, 61% were female, 45.4% with heart defects. Among those with trisomy 13, 53% were female, 38.4% had heart defects, 24.5% had orofacial anomalies, and 11.2% had central nervous system abnormalities. More than half of the newborns with both conditions died prior to discharge. This updated information can be used to inform clinical decision-making and may help providers better prepare families for infants with trisomies.

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Year:  2006        PMID: 16835915     DOI: 10.1002/ajmg.a.31382

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  25 in total

1.  Major anomalies and birth-weight influence NICU interventions and mortality in infants with trisomy 13 or 18.

Authors:  K Acharya; S Leuthner; R Clark; T H Nghiem-Rao; A Spitzer; J Lagatta
Journal:  J Perinatol       Date:  2017-01-12       Impact factor: 2.521

2.  Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis.

Authors:  Nitin Goel; Joan K Morris; David Tucker; Hermien E K de Walle; Marian K Bakker; Vijaya Kancherla; Lisa Marengo; Mark A Canfield; Karin Kallen; Nathalie Lelong; Jorge L Camelo; Erin B Stallings; Abbey M Jones; Amy Nance; My-Phuong Huynh; Maria-Luisa Martínez-Fernández; Antonin Sipek; Anna Pierini; Wendy N Nembhard; Dorit Goetz; Anke Rissmann; Boris Groisman; Leonora Luna-Muñoz; Elena Szabova; Serhiy Lapchenko; Ignacio Zarante; Paula Hurtado-Villa; Laura E Martinez; Giovanna Tagliabue; Danielle Landau; Miriam Gatt; Saeed Dastgiri; Margery Morgan
Journal:  Am J Med Genet A       Date:  2019-09-30       Impact factor: 2.802

Review 3.  The genetics of congenital heart disease… understanding and improving long-term outcomes in congenital heart disease: a review for the general cardiologist and primary care physician.

Authors:  M Abigail Simmons; Martina Brueckner
Journal:  Curr Opin Pediatr       Date:  2017-10       Impact factor: 2.856

4.  Congenital talipes equinovarus and congenital vertical talus secondary to sacral agenesis.

Authors:  Jonathan James Hyett Bray; Sebastien Crosswell; Rick Brown
Journal:  BMJ Case Rep       Date:  2017-05-05

5.  Major chromosomal anomalies among very low birth weight infants in the Vermont Oxford Network.

Authors:  Nansi S Boghossian; Jeffrey D Horbar; Joseph H Carpenter; Jeffrey C Murray; Edward F Bell
Journal:  J Pediatr       Date:  2011-12-16       Impact factor: 4.406

6.  CSAX: Characterizing Systematic Anomalies in eXpression Data.

Authors:  Keith Noto; Saeed Majidi; Andrea G Edlow; Heather C Wick; Diana W Bianchi; Donna K Slonim
Journal:  J Comput Biol       Date:  2015-02-04       Impact factor: 1.479

Review 7.  Global Birth Prevalence of Spina Bifida by Folic Acid Fortification Status: A Systematic Review and Meta-Analysis.

Authors:  Callie A M Atta; Kirsten M Fiest; Alexandra D Frolkis; Nathalie Jette; Tamara Pringsheim; Christine St Germaine-Smith; Thilinie Rajapakse; Gilaad G Kaplan; Amy Metcalfe
Journal:  Am J Public Health       Date:  2015-11-12       Impact factor: 9.308

8.  Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study.

Authors:  Robert E Meyer; Gang Liu; Suzanne M Gilboa; Mary K Ethen; Arthur S Aylsworth; Cynthia M Powell; Timothy J Flood; Cara T Mai; Ying Wang; Mark A Canfield
Journal:  Am J Med Genet A       Date:  2015-12-10       Impact factor: 2.802

9.  Appropriately grown baby with multiple congenital abnormalities: a case report.

Authors:  Devangi Thakkar; Narendra Aladangady
Journal:  Medscape J Med       Date:  2008-09-09

Review 10.  Genetics of congenital heart disease: the glass half empty.

Authors:  Akl C Fahed; Bruce D Gelb; J G Seidman; Christine E Seidman
Journal:  Circ Res       Date:  2013-02-15       Impact factor: 17.367

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