Background There have been an increasing number of publications related to trisomy 18
associated with a shift in the philosophy of care. The objective of this review is to understand …

Advances in prenatal/neonatal genetic screening practices and next generation sequencing
(NGS) technologies have made the detection of molecular causes of pediatric diseases …

Rare genetic diseases (RGDs) affect a significant number of individuals, particularly in
pediatric populations. This study investigates the efficacy of identifying RGD diagnoses …

Objective To describe characteristics, treatments and clinical outcomes of patients with
trisomy 18 and oesophageal atresia, using a nationwide database in Japan. Design …

Abstract Changes in medical intervention over the last decade have improved outcomes for
individuals with trisomy 18, the second most common human aneuploidy syndrome at birth …

Objectives Recommendations for surgical repair of a congenital heart defect in children with
trisomy 13 or trisomy 18 remain controversial, are subject to biases, and are largely …

Abstract Background Trisomy 18 syndrome (T18) is the second most common autosomal
trisomy and has a high risk of fetal loss and stillbirth. Aggressive surgical treatments for the …

Objective To quantify admissions to neonatal units in England and Wales with potential
need for palliative care. Design, setting and patients Diagnoses and clinical attributes …

Mortality in individuals with trisomy 18 has significantly decreased over the past 20 years,
but there is scant literature addressing the prognosis and cause of death in individuals with …

In this retrospective cohort study, we investigated the impact of tracheostomies on the long‐
term survival of children with trisomy 13 syndrome at a Japanese tertiary pediatric center …