Neonatal screening for critical cardiovascular anomalies using pulse oximetry.

INTRODUCTION: Babies with cardiac anomalies are often asymptomatic at birth, and many remain undetected despite routine newborn examination. We retrospectively assessed the effect of routine pulse oximetry in detection of such anomalies from a hospital birth population of 31 946 babies born between 1 April 1999 and 31 March 2009. METHOD: 29 925 babies who were not admitted to the neonatal unit at birth underwent postductal oxygen saturation measurement before discharge. If saturation was below 95% an examination was performed. If this was abnormal or saturation remained low, an echocardiogram was performed. All babies with cardiac anomaly diagnosed before 1-year were identified from the region's fetal abnormality database. RESULTS: Critical anomalies affected 27 infants (1 in 1180); 10 identified prenatally, 2 after echocardiogram was performed because of other anomalies, 2 in preterm infants, 2 when symptomatic before screening, 5 by oximetry screening, 1 when symptomatic in hospital after a normal screen and 5 after discharge home. Serious anomalies affected 50 infants (1 in 640); 8 identified antenatally, 7 because of other anomalies, 3 in the neonatal unit, 5 by pulse oximetry screening, 11 by routine newborn examination, and 16 after discharge home. CONCLUSIONS: Routine pulse oximetry aided detection of 5/27 of critical and 5/50 of serious anomalies in this sample, but did not prevent five babies with critical and 15 with serious anomalies being discharged undiagnosed. Results from screening over 250 000 babies have now been published, but this total includes only 49 babies with transposition, and even smaller numbers of rarer anomalies.

Changes in fetal prevalence and outcome for trisomies 13 and 18: a population-based study over 23 years.

OBJECTIVE: Changes in prenatal diagnosis and maternal age are likely to have an impact on live born prevalence of trisomies 13 and 18. We investigated trends in diagnosis, prevalence, and survival in these conditions. METHODS: A population-based study of one UK health region in 1985-2007 using a well-established congenital abnormality register. Individual records were reviewed and live birth and maternal age data obtained. RESULTS: Pregnancies with trisomies 13 and 18 increased from 0.08 to 0.23 per 1000 registered births and 0.20 to 0.65 per 1000 registered births, respectively. Prenatal diagnosis increased and was associated with high termination rates. Live born prevalence with trisomy 13 decreased from 0.05 to 0.03 per 1000 live births and with trisomy 18 from 0.16 to 0.10 per 1000 live births. Postnatal survival remains poor: one baby (3%) with trisomy 13 and four (6%) with trisomy 18 survived the first year. The percentage of mothers over 35 years increased from 6 to 15%. CONCLUSIONS: Changes in prenatal screening and maternal age have had dramatic effects on the live born prevalence of trisomies 13 and 18. Infant survival remains largely unchanged with the majority dying in the neonatal period.

Twenty-year trends in prevalence and survival of Down syndrome.

The aims of this study were (1) to determine trends in total prevalence and live birth prevalence of Down syndrome, (2) to analyse trends in factors likely to influence this prevalence and (3) to determine 1-year survival in Down syndrome. A retrospective review was made of prospectively collected data on all cases of Down syndrome within a malformation registry born in 1985-2004. Down syndrome affected 1188 pregnancies among 690 215 live births (1.72 per 1000 total births). The proportion increased over 20 years from 1.3 to 2.5 per 1000 total births (P<0.0001). There were 389 terminations for Down syndrome and 51 stillbirths. There were 748 live births with Down syndrome (1.08 per 1000 live births). The live birth prevalence declined in 1985-1994 and increased in 1995-2004 with no overall change. Total live births in the population declined by 20% over 20 years. Mothers delivering at 35 years of age or above increased from 6 to 15%. The uptake of maternal serum screening increased from zero in 1987 to 35% in 1993 but then plateaued. One-year survival of live births with Down syndrome increased, especially in babies with cardiovascular malformations, reaching almost 100%. The prevalence of pregnancies affected by Down syndrome has increased significantly, but there has been no overall change in live birth prevalence. Increasing maternal age and improved survival of children with Down syndrome have offset the effects of prenatal diagnosis followed by the termination of pregnancy and declining general birth rate.

Refining the role of oxygen administration during delivery room resuscitation: what are the future goals?

Oxygen was discovered more than 200 years ago and was thought to be both essential and beneficial for all animal life. Although it is now over 100 years since oxygen was first shown to damage biological tissues exposed to high concentrations, and more than 50 years since it was implicated in the aetiology of retinopathy of prematurity, the use of 100% oxygen was still recommended for the resuscitation of all babies at birth as recently as 2000. However, the 2005 International Liaison Committee on Resuscitation (ILCOR) recommendations allow for the initiation of resuscitation with concentrations of oxygen between 21 and 100%. There are strong arguments in favour of a radical curtailment of the use of oxygen in resuscitation at birth, and for devoting resources to defining the margins of safety for its use in the neonatal period in general.

Air or 100% oxygen in neonatal resuscitation?

For more than 100 years, three principles have guided the treatment of neonatal asphyxia: maintain body heat, free air passages of obstructions, and stimulate respiration by supplying air to the lungs for oxygenation of the blood. This article addresses the question of which gas, air or 100% oxygen, is best supplied to the lungs to stimulate respiration. Evidence-based studies are presented and discussed.