Literature DB >> 30263999

An 8-week-old infant with trisomy 13: dilemmas for medical decision making.

Patrick Staso1, Scottie Paitl1, Dilip R Patel1.   

Abstract

Patau syndrome, trisomy 13, is a rare genetic condition with notable physical and mental characteristics and an average reported lifespan of 9 months. For years, trisomy 13 was regarded as a lethal condition; however, a few infants survive for many years, creating a dilemma for both the medical practitioner and the family in terms of the appropriateness and timeliness of specific medical interventions. Even in the face of severe mental and physical limitations, most families of children with trisomy 13 report their experiences as enriching. Appropriate and timely surgical interventions and medical treatments have been shown to increase survival for some infants. Early palliative care helps to limit physical and emotional suffering, and allow the family to create a legacy that their baby's life had meaning, regardless of how long they survive. We present a case of an 8-week-old infant with trisomy 13 to illustrate some of the medical decision making dilemmas faced by both medical practitioner and the family.

Entities:  

Keywords:  Patau syndrome; Trisomy 13; aneuploidy; ethics; palliative care; survival

Year:  2018        PMID: 30263999      PMCID: PMC6155741          DOI: 10.21037/acr.2018.01.03

Source DB:  PubMed          Journal:  AME Case Rep        ISSN: 2523-1995


  14 in total

1.  A Case Study of Trisomy 13: Balancing Hope and Reality.

Authors:  Christina O Stafford
Journal:  Adv Neonatal Care       Date:  2015-08       Impact factor: 1.968

2.  Trisomy 13 and 18 and quality of life: treading "softly".

Authors:  Lawrence J Fenton
Journal:  Am J Med Genet A       Date:  2011-06-10       Impact factor: 2.802

3.  Developmental status of 22 children with trisomy 18 and eight children with trisomy 13: implications and recommendations.

Authors:  Deborah A Bruns
Journal:  Am J Med Genet A       Date:  2015-04-05       Impact factor: 2.802

4.  Trisomy 13 (Patau syndrome) with tetralogy of Fallot--to treat or not to treat?

Authors:  Roie Tal; Yitzhack Schwartz; Jenny Zolotushko; Avraham Lorber
Journal:  Int J Cardiol       Date:  2013-12-30       Impact factor: 4.164

5.  Long-term survival of full trisomy 13 in a 14 year old male: a case report.

Authors:  G Imataka; S Hagisawa; A Nitta; H Hirabayashi; H Suzumura; O Arisaka
Journal:  Eur Rev Med Pharmacol Sci       Date:  2016-03       Impact factor: 3.507

6.  The experience of families with children with trisomy 13 and 18 in social networks.

Authors:  Annie Janvier; Barbara Farlow; Benjamin S Wilfond
Journal:  Pediatrics       Date:  2012-07-23       Impact factor: 7.124

7.  Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18.

Authors:  Annie Janvier; Barbara Farlow; Keith J Barrington
Journal:  Am J Med Genet C Semin Med Genet       Date:  2016-08-23       Impact factor: 3.908

8.  Trisomy 13: Changing Perspectives.

Authors:  Gabriel Macias; Cheryl Riley
Journal:  Neonatal Netw       Date:  2016

Review 9.  Trisomy 13 and 18: Selecting the road previously not taken.

Authors:  Martin J McCaffrey
Journal:  Am J Med Genet C Semin Med Genet       Date:  2016-08-13       Impact factor: 3.908

10.  Better prognosis in newborns with trisomy 13 who received intensive treatments: a retrospective study of 16 patients.

Authors:  Keiko Tsukada; George Imataka; Hiroshi Suzumura; Osamu Arisaka
Journal:  Cell Biochem Biophys       Date:  2012-07       Impact factor: 2.194

View more
  1 in total

1.  Opioid-free anesthesia for a child with trisomy 13 with obstructive sleep apnea: a case report.

Authors:  Makiko Yamamoto; Izumi Miyazaki; Hiroaki Kishikawa; Atsuhiro Sakamoto
Journal:  JA Clin Rep       Date:  2020-06-11
  1 in total

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