Consequences of chromosome gain: A new view on trisomy syndromes

M Krivega, CM Stiefel, Z Storchova - The American Journal of Human …, 2022 - cell.com
Chromosome gains are detrimental for the development of the human embryo. As such,
autosomal trisomies almost always result in spontaneous abortion, and the rare embryos …

Surveillance guidelines for children with trisomy 18

JW Kepple, KP Fishler… - American Journal of …, 2021 - Wiley Online Library
Trisomy 18 is the second most common aneuploidy syndromes in live born infants. It is
associated with high mortality rates, estimated to be 75%–95% in the first year of life, as well …

Trisomy 18 and trisomy 13 syndromes

JC Carey - Cassidy and Allanson's management of genetic …, 2021 - Wiley Online Library
The trisomy 18 and trisomy 13 syndromes represent important and common conditions of
human aneusomy. Together, their combined prevalence in live born infants approaches …

Cardiac surgery in patients with trisomy 13 and 18: an analysis of the society of thoracic surgeons congenital heart surgery database

DS Cooper, KW Riggs, F Zafar, JP Jacobs… - Journal of the …, 2019 - Am Heart Assoc
Background Congenital heart disease is common in patients with Trisomy 13 (T13) and
Trisomy 18 (T18), but offering cardiac surgery to these patients has been controversial. We …

Cardiac surgery in trisomy 13 and 18: a guide to clinical decision-making

HG Carvajal, CP Callahan, JR Miller, BL Rensink… - Pediatric …, 2020 - Springer
There has been substantial controversy regarding treatment of congenital heart defects in
infants with trisomies 13 and 18. Most reports have focused on surgical outcomes versus …

[HTML][HTML] Perinatal outcomes of fetuses and infants diagnosed with trisomy 13 or trisomy 18

DME Cortezzo, LK Tolusso, DT Swarr - The Journal of Pediatrics, 2022 - Elsevier
Objectives To identify factors associated with prenatal, perinatal, and postnatal outcomes,
and determine medical care use for fetuses and infants with trisomy 13 (T13) and trisomy 18 …

Interdisciplinary care of children with trisomy 13 and 18

MS Weaver, V Anderson, J Beck… - American journal of …, 2021 - Wiley Online Library
Children with trisomy 13 and 18 (previously deemed “incompatible with life”) are living
longer, warranting a comprehensive overview of their unique comorbidities and complex …

Improving survival in patients with trisomy 18

S Tamaki, S Iwatani, A Izumi… - American Journal of …, 2022 - Wiley Online Library
The effects of medical and surgical interventions on the survival of patients with trisomy 18
have been reported, leading to changes in perinatal management and decision‐making …

Association of birth defects with child mortality before age 14 years

ML Sattolo, L Arbour, M Bilodeau-Bertrand… - JAMA Network …, 2022 - jamanetwork.com
Importance Causes of death in children with birth defects are poorly understood. Objective
To determine mortality rates by cause of death in children with and without birth defects …

The common trisomy syndromes, their cardiac implications, and ethical considerations in care

KA Kosiv, MR Mercurio, JC Carey - Current Opinion in Pediatrics, 2023 - journals.lww.com
As the care and management of congenital heart disease changed in trisomy 21, so too it
has with trisomy 13 and 18. Physicians and parents should develop goal-directed treatment …