Literature DB >> 8795354

Natural history of trisomy 18.

N D Embleton1, J P Wyllie, M J Wright, J Burn, S Hunter.   

Abstract

It has been suggested that survival in babies with trisomy 18 may be better than previously recognised, and that cardiac surgery may be justified. A population based study spanning seven years in one English health region is presented. The fetal prevalence at 18 weeks was 1 in 4274 and birth prevalence 1 in 8333 live births. Trisomy 18 was detected antenatally in 43% of cases, but almost 90% of those born without a diagnosis were known to be growth retarded in utero. More than 50% of liveborn infants were delivered by caesarean section. The median survival of those born alive was 3 days with no babies living longer than one year. Cardiac malformations were not universal but were present in more than 87% of those for whom there were data. However, in only three cases were cardiac problems implicated in the death of the infants. Cardiac surgery is not likely to improve the survival of infants with trisomy 18 and at present cannot be justified. The most common mode of death was central apnoea.

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Year:  1996        PMID: 8795354      PMCID: PMC1061148          DOI: 10.1136/fn.75.1.f38

Source DB:  PubMed          Journal:  Arch Dis Child Fetal Neonatal Ed        ISSN: 1359-2998            Impact factor:   5.747


  16 in total

1.  Prenatal detection of heart defects as an indication for chromosome analysis.

Authors:  G Schwanitz; K Zerres; U Gembruch; R Bald; F Gamerdinger; M Hansmann
Journal:  Ann Genet       Date:  1990

2.  Changing demography of trisomy 18.

Authors:  I D Young; J P Cook; L Mehta
Journal:  Arch Dis Child       Date:  1986-10       Impact factor: 3.791

3.  Rates and survival of individuals with trisomy 13 and 18. Data from a 10-year period in Denmark.

Authors:  H Goldstein; K G Nielsen
Journal:  Clin Genet       Date:  1988-12       Impact factor: 4.438

4.  Morbidity of trisomy 18 includes delivery by caesarean section.

Authors:  T J David; S Glew
Journal:  Lancet       Date:  1980-12-13       Impact factor: 79.321

5.  Survival and the sex ratio in trisomy 17-18.

Authors:  W W Weber
Journal:  Am J Hum Genet       Date:  1967-05       Impact factor: 11.025

6.  Survival in trisomy 18. Life tables for use in genetic counselling and clinical paediatrics.

Authors:  P E Carter; J H Pearn; J Bell; N Martin; N G Anderson
Journal:  Clin Genet       Date:  1985-01       Impact factor: 4.438

7.  Cardiac malformations in trisomy-18: a study of 41 postmortem cases.

Authors:  S Van Praagh; T Truman; A Firpo; A Bano-Rodrigo; R Fried; B McManus; M A Engle; R Van Praagh
Journal:  J Am Coll Cardiol       Date:  1989-06       Impact factor: 24.094

8.  The ultrasound triad of fetal hydramnios, abnormal hand posturing, and any other anomaly predicts autosomal trisomy.

Authors:  D E Carlson; L D Platt; A L Medearis
Journal:  Obstet Gynecol       Date:  1992-05       Impact factor: 7.661

9.  Avoidance of emergency surgery in newborn infants with trisomy 18.

Authors:  A P Bos; C J Broers; F W Hazebroek; J O van Hemel; D Tibboel; E Wesby-van Swaay; J C Molenaar
Journal:  Lancet       Date:  1992-04-11       Impact factor: 79.321

10.  Echocardiographic evaluation of the spectrum of cardiac anomalies associated with trisomy 13 and trisomy 18.

Authors:  N N Musewe; D J Alexander; I Teshima; J F Smallhorn; R M Freedom
Journal:  J Am Coll Cardiol       Date:  1990-03-01       Impact factor: 24.094

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  25 in total

1.  Intensive care in an adolescent with trisomy 18: an ethical dilemma.

Authors:  Marco Piastra; Elena Caresta; Antonio Chiaretti; Giancarlo Polidori; Manuela Pardeo; Gabriella De Rosa
Journal:  Eur J Pediatr       Date:  2003-09-20       Impact factor: 3.183

2.  Cardiovascular surgery for congenital heart disease associated with trisomy 18.

Authors:  Hiroyuki Yamagishi
Journal:  Gen Thorac Cardiovasc Surg       Date:  2010-05-07

3.  The self-fulfilling prophecy in intensive care.

Authors:  Dominic Wilkinson
Journal:  Theor Med Bioeth       Date:  2009

4.  Love and the Value of Life in Health Care: A Narrative Medicine Case Study in Medical Education.

Authors:  Jorge Alberto Martins Pentiado; Helcia Oliveira De Almeida; Fábio Ferreira Amorim; Adriano Machado Facioli; Eliana Mendonça Vilar Trindade; Karlo Jozefo Quadros De Almeida
Journal:  Perm J       Date:  2016-02-15

5.  Pediatric sub-specialist controversies in the treatment of congenital heart disease in trisomy 13 or 18.

Authors:  Andrew R Yates; Timothy M Hoffman; Edward Shepherd; Bethany Boettner; Kim L McBride
Journal:  J Genet Couns       Date:  2011-05-18       Impact factor: 2.537

6.  Radical surgery for a ventricular septal defect associated with trisomy 18.

Authors:  Jotaro Kobayashi; Yukihiro Kaneko; Yuusuke Yamamoto; Hitoshi Yoda; Keiji Tsuchiya
Journal:  Gen Thorac Cardiovasc Surg       Date:  2010-05-07

7.  Trisomy 18 in neonates: prenatal diagnosis, clinical features, therapeutic dilemmas and outcome.

Authors:  Barbara Goc; Zofia Walencka; Agata Włoch; Ewa Wojciechowska; Danuta Wiecek-Włodarska; Joanna Krzystolik-Ładzińska; Klaudiusz Bober; Janusz Swietliński
Journal:  J Appl Genet       Date:  2006       Impact factor: 3.240

8.  A visual tool inclusive of fetal ultrasound and autopsy findings to reach a balanced approach to counseling on trisomy 18 in early second trimester.

Authors:  Stefania Triunfo; Marta Bonollo; Priska Gaffuri; Manuela Viviano; Daniele Satta; Manuela Bergmann
Journal:  Arch Gynecol Obstet       Date:  2021-06-22       Impact factor: 2.344

9.  Factors Influencing Outcomes After Cardiac Intervention in Infants with Trisomy 13 and 18.

Authors:  Renuka Peterson; Nandini Calamur; Andrew Fiore; Charles Huddleston; Kimberly Spence
Journal:  Pediatr Cardiol       Date:  2017-09-25       Impact factor: 1.655

10.  Cardiac surgery in patients with trisomy 18.

Authors:  Yukihiro Kaneko; Jotaro Kobayashi; Ikuya Achiwa; Hitoshi Yoda; Keiji Tsuchiya; Yayohi Nakajima; Daiichi Endo; Hajime Sato; Tadashi Kawakami
Journal:  Pediatr Cardiol       Date:  2009-04-02       Impact factor: 1.655

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