https://www.thelancet.com/pdfs/journals/lancet/PIIS0140-6736(12)60820-4.pdf

National regional and worldwide estimates of preterm birth rates in the year 2010 with time trends since 1990 for selected countries: a systematic analysis and implications.

https://www.who.int/immunization/diseases/tetanus/lancet-2012-global-child-mortality.pdf

Global, regional, and national causes of child mortality: An updated systematic analysis for 2010 with time trends since 2000

https://www.thelancet.com/pdfs/journals/lancet/PIIS0140-6736(14)61698-6.pdf

Global, regional, and national causes of child mortality in 2000-13, with projections to inform post-2015 priorities: an updated systematic analysis.

Background Whole-exome sequencing is a diagnostic approach for the identification of molecular defects in patients with suspected genetic disorders. Methods We developed technical, bioinformatic, interpretive, and validation pipelines for whole-exome sequencing in a certified clinical laboratory to identify sequence variants underlying disease phenotypes in patients. Results We present data on the first 250 probands for whom referring physicians ordered whole-exome sequencing. Patients presented with a range of phenotypes suggesting potential genetic causes. Approximately 80% were children with neurologic phenotypes. Insurance coverage was similar to that for established genetic tests. We identified 86 mutated alleles that were highly likely to be causative in 62 of the 250 patients, achieving a 25% molecular diagnostic rate (95% confidence interval, 20 to 31). Among the 62 patients, 33 had autosomal dominant disease, 16 had autosomal recessive disease, and 9 had X-linked disease. A total of 4 probands re...

/pdf/clinical-whole-exome-sequencing-for-the-diagnosis-of-58btda0wd4.pdf

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

This second paper in the Born Too Soon supplement presents a review of the epidemiology of preterm birth, and its burden globally, including priorities for action to improve the data. Worldwide an estimated 11.1% of all livebirths in 2010 were born preterm (14.9 million babies born before 37 weeks of gestation), with preterm birth rates increasing in most countries with reliable trend data. Direct complications of preterm birth account for one million deaths each year, and preterm birth is a risk factor in over 50% of all neonatal deaths. In addition, preterm birth can result in a range of long-term complications in survivors, with the frequency and severity of adverse outcomes rising with decreasing gestational age and decreasing quality of care. The economic costs of preterm birth are large in terms of immediate neonatal intensive care, ongoing long-term complex health needs, as well as lost economic productivity. Preterm birth is a syndrome with a variety of causes and underlying factors usually divided into spontaneous and provider-initiated preterm births. Consistent recording of all pregnancy outcomes, including stillbirths, and standard application of preterm definitions is important in all settings to advance both the understanding and the monitoring of trends. Context specific innovative solutions to prevent preterm birth and hence reduce preterm birth rates all around the world are urgently needed. Strengthened data systems are required to adequately track trends in preterm birth rates and program effectiveness. These efforts must be coupled with action now to implement improved antenatal, obstetric and newborn care to increase survival and reduce disability amongst those born too soon.

/pdf/born-too-soon-the-global-epidemiology-of-15-million-preterm-3rsvljnus4.pdf

Born Too Soon: The global epidemiology of 15 million preterm births

Born too soon : the Global action report on preterm birth

March of Dimes: global report on birth defects, the hidden toll of dying and disabled children.

https://www.marchofdimes.org/materials/preventing-preterm-births-analysis-of-trends-and-potential-reductions-with-interventions-in-39-countries.pdf

Preventing preterm births: analysis of trends and potential reductions with interventions in 39 countries with very high human development index.

Urgent action is needed to address preterm birth given that the first country-level estimates show that globally 15 million babies are born too soon and rates are increasing in most countries with reliable time trend data. As the first in a supplement entitled "Born Too Soon", this paper focuses on the global policy context. Preterm birth is critical for progress on Millennium Development Goal 4 (MDG) for child survival by 2015 and beyond, and gives added value to maternal health (MDG 5) investments also linking to non-communicable diseases. For preterm babies who survive, the additional burden of prematurity-related disability may affect families and health systems. Prematurity is an explicit priority in many high-income settings; however, more attention is needed especially in low- and middle-income countries where the invisibility of preterm birth as well as its myths and misconceptions have slowed action on prevention and care. Recent global attention to preterm birth hit a tipping point in 2012, with the May 2 publication of Born Too Soon: The Global Action Report on Preterm Birth and with the 2nd annual World Prematurity Day on November 17 which mobilised the actions of partners in many countries to address preterm birth and newborn health. Interventions to strengthen preterm birth prevention and care span the continuum of care for reproductive, maternal, newborn and child health. Both prevention of preterm birth and implementation of care of premature babies require more research, as well as more policy attention and programmatic investment. This article is part of a supplement jointly funded by Save the Children's Saving Newborn Lives programme through a grant from The Bill & Melinda Gates Foundation and March of Dimes Foundation and published in collaboration with the World Health Organization (WHO). The original article was published in PDF format in the WHO Report "Born Too Soon: the global action report on preterm birth (ISBN 978 92 4 150343 30). The article has been reformatted for journal publication and has undergone peer review according to Reproductive Health's standard process for supplements and may feature some variations in content when compared to the original report. This co-publication makes the article available to the community in a full-text format.

/pdf/born-too-soon-preterm-birth-matters-2z0xm5dlh6.pdf

Christopher P Howson

Papers

Born too soon : the Global action report on preterm birth

March of Dimes: global report on birth defects, the hidden toll of dying and disabled children.

March of Dimes: global report on birth defects, the hidden toll of dying and disabled children.

Preventing preterm births: analysis of trends and potential reductions with interventions in 39 countries with very high human development index.

Born Too Soon: Preterm birth matters