Sam Richmond

Presentation of congenital heart disease in infancy: implications for routine examination

AIM To investigate the performance of routine neonatal and 6 week examinations for detecting congenital heart disease. METHODS A retrospective review of findings on clinical examination was conducted of a cohort of live born infants with congenital heart disease in one health region in 1987–94 RESULTS Of 1590 babies with congenital heart disease, 523 (33%) presented before neonatal examination because of symptoms or non-cardiac abnormalities. 1061 underwent routine neonatal examination which was abnormal in 476 (45%), but only 170 were referred directly for diagnosis. Of 876 discharged with no diagnosis, 306 presented or died undiagnosed before 6 weeks. At 6 weeks 252 of 569 babies underwent a second routine examination which was abnormal in 164 (65%). CONCLUSIONS Routine neonatal examination fails to detect more than half of babies with heart disease; examination at 6 weeks misses one third. A normal examination does not exclude heart disease. Babies with murmurs at neonatal or 6 week examinations should be referred for early paediatric cardiological evaluation which will result either in a definitive diagnosis of congenital heart disease or in authoritative reassurance of normal cardiac anatomy and function. Key points u2002• More than half of babies with undiagnosed congenital heart disease which comes to light in infancy are missed by routine neonatal examination and more than one third by the 6 week examination u2002• Parents, community midwives, health visitors, general practitioners and paediatricians should recognise that a normal neonatal examination does not guarantee that the baby is normal and certainly does not exclude life threatening cardiovascular malformation u2002• Follow up of babies with murmurs without arranging for an early definitive (echocardiographic) diagnosis is of little value and can be risky u2002• Babies with murmurs at neonatal or 6 week examinations should be referred for early paediatric cardiological evaluation. This will result either in a definitive diagnosis of congenital heart disease or in authoritative reassurance of normal cardiac anatomy and function u2002• Babies with Down’s syndrome have a high prevalence of congenital heart disease and all should be referred for early echocardiographic examination.

Temporal variability in birth prevalence of cardiovascular malformations

OBJECTIVE To investigate changes over time in the prevalence at live birth of cardiovascular malformations and to compare “anatomical” and “physiological” diagnostic hierarchies within a population. DESIGN Retrospective and prospective ascertainment of all congenital cardiovascular malformations diagnosed in infancy. SETTING The resident population of one health region. PATIENTS All infants live born from 1985 to 1997 with cardiovascular malformations confirmed by echocardiography, cardiac catheterisation, surgery or autopsy. MAIN OUTCOME MEASURES Year to year variation in prevalence of individual malformations and of “complex”, “significant”, and “minor” groups. RESULTS 2671 babies with cardiovascular malformations were confirmed in a denominator population of 477u2009960 live births (5.6 per 1000). There was no change over 13 years in the birth prevalence of “complex” or “significant” defects, but a highly significant increase in “minor” defects (pu2009<u20090.0001), mainly small ventricular septal defects. Termination of pregnancy increased from no cases in 1985 to 16 in 1997 with no demonstrable effect on live born babies with heart defects. A one dimensional “anatomical” diagnostic hierarchy led to under ascertainment of pulmonary atresia by 27%, coarctation of the aorta by 39%, and interruption of the aorta by 100%. CONCLUSIONS The apparent increase in live born cardiovascular malformations results mainly from improved diagnosis of minor defects. There has been no change over time in birth prevalence of more serious defects. Spontaneous year to year variation in numbers will make it difficult to ascribe any short term changes to any particular intervention. A two dimensional diagnostic hierarchy is offered as a standard.

Increasing rates of cerebral palsy across the severity spectrum in north-east England 1964-1993

OBJECTIVES To report epidemiological trends in cerebral palsy including analyses by severity. DESIGN Descriptive longitudinal study in north-east England. Every child with suspected cerebral palsy was examined by a developmental paediatrician to confirm the diagnosis. Severity of impact of disability was derived from a parent completed questionnaire already developed and validated for this purpose. SUBJECTS All children with cerebral palsy, not associated with any known postneonatal insult, born 1964–1993 to mothers resident at the time of birth in the study area. MAIN OUTCOME MEASURES Cerebral palsy rates by year, birth weight, and severity. Severity of 30% and above defines the more reliably ascertained cases; children who died before assessment at around 6 years of age are included in the most severe group (70% and above). RESULTS 584 cases of cerebral palsy were ascertained, yielding a rate that rose from 1.68 per 1000 neonatal survivors during 1964–1968 to 2.45 during 1989–1993 (riseu2009=u20090.77; 95% confidence interval 0.2–1.3). For the more reliably ascertained cases there was a twofold increase in rate from 0.98 to 1.96 (riseu2009=u20090.98; 95% confidence interval 0.5–1.4). By birth weight, increases in rates were from 29.8 to 74.2 per 1000 neonatal survivors <u20091500 g and from 3.9 to 11.5 for those 1500–2499 g. Newborns <u20092500 g now contribute one half of all cases of cerebral palsy and just over half of the most severe cases, whereas in the first decade of this study they contributed one third of all cases and only one sixth of the most severe (χ2 and χ2 for trend pu2009<u20090.001). CONCLUSIONS The rate of cerebral palsy has risen in spite of falling perinatal and neonatal mortality rates, a rise that is even more pronounced when the mildest and least reliably ascertained are excluded. The effect of modern care seems to be that many babies <u20092500 g who would have died in the perinatal period now survive with severe cerebral palsy. A global measure of severity should be included in registers of cerebral palsy to determine a minimum threshold for international comparisons of rates, and to monitor changes in the distribution of severity.

Hypernatraemic dehydration and breast feeding: a population study

As part of a population based regional review of all neonatal readmissions, the incidence of dehydration with hypernatraemia in exclusively breast fed infants was estimated. All readmissions to hospital in the first month of life during 1998 from a population of 32u2009015 live births were reviewed. Eight of 907 readmissions met the case definition, giving an incidence of at least 2.5 per 10u2009000 live births. Serum sodium at readmission varied from 150 to 175 mmol/l. One infant had convulsions. The sole explanation for hypernatraemia was unsuccessful breast feeding in all cases. The eight cases are compared with the 65 cases published in the literature since 1979. Presentation, incidence, risk factors, pathophysiology, treatment, and prevention are discussed.

A population-based study of the prenatal diagnosis of congenital malformation over 16 years

Objectiveu2003 A population‐based study of the trends in accuracy over time of prenatal diagnosis of congenital malformations.

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 690u2009215 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.

Presentation of obstructive left heart malformations in infancy.

This study documents the presentation of acutely life threatening congenital heart disease in infancy in order to assess the performance of screening examinations soon after birth and at 6 weeks of age. All cases of obstructive left heart malformations presenting in infancy in one health region from 1987-91 were analysed retrospectively. Altogether, 120 infants presented with either hypoplastic left heart syndrome, interruption of the aortic arch, coarctation of the aorta, or aortic valve stenosis. Twelve became symptomatic or died within 24 hours. Thirty four had an abnormal neonatal examination, eight of whom were referred. Six more became symptomatic before discharge. Ninety four babies went home, 51 developed heart failure before 6 weeks, and another seven died without diagnosis. Twenty five of 36 (69%) reaching 6 weeks without diagnosis had a second examination which was abnormal in 17. Two babies died undiagnosed after 6 weeks and the other 18 presented at up to 11 months of age. The neonatal and 6 week examinations perform poorly as screening tests for congenital heart disease. A normal neonatal examination does not exclude life threatening congenital heart disease.

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

Objective.u2003Changes 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.u2003A 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.u2003Pregnancies 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.u2003Changes 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.

The PREM score: a graphical tool for predicting survival in very preterm births

Objective: To develop a tool for predicting survival to term in babies born more than 8 weeks early using only information available at or before birth. Design: 1456 non-malformed very preterm babies of 22–31 weeks’ gestation born in 2000–3 in the north of England and 3382 births of 23–31 weeks born in 2000–4 in Trent. Outcome: Survival to term, predicted from information available at birth, and at the onset of labour or delivery. Method: Development of a logistic regression model (the prematurity risk evaluation measure or PREM score) based on gestation, birth weight for gestation and base deficit from umbilical cord blood. Results: Gestation was by far the most powerful predictor of survival to term, and as few as 5 extra days can double the chance of survival. Weight for gestation also had a powerful but non-linear effect on survival, with weight between the median and 85th centile predicting the highest survival. Using this information survival can be predicted almost as accurately before birth as after, although base deficit further improves the prediction. A simple graph is described that shows how the two main variables gestation and weight for gestation interact to predict the chance of survival. Conclusion: The PREM score can be used to predict the chance of survival at or before birth almost as accurately as existing measures influenced by post-delivery condition, to balance risk at entry into a controlled trial and to adjust for differences in “case mix” when assessing the quality of perinatal care.

Antenatal diagnosis of congenital heart disease and Down's syndrome: the potential effect on the practice of paediatric cardiology.

OBJECTIVE--To predict the effect of antenatal ultrasound screening for congenital heart disease and maternal serum screening of Downs syndrome on the practice of paediatric cardiology and paediatric cardiac surgery. DESIGN--A retrospective and prospective ascertainment of all congenital heart disease diagnosed in infancy in 1985-1991. SETTING--One English health region. PATIENTS--All congenital heart disease diagnosed in infancy by echocardiography, cardiac catheterisation, surgery, or necropsy was classified as complex, significant, or minor and as detectable or not detectable on a routine antenatal ultrasound scan. RESULTS--1347 infants had congenital heart disease which was complex in 13%, significant in 55%, and minor in 32%. 15% of cases were detectable on routine antenatal ultrasound. Assuming 20% detection and termination of 67% of affected pregnancies, liveborn congenital heart disease would be reduced by 2%, infant mortality from congenital heart disease by 5%, and paediatric cardiac surgical activity by 3%. Maternal screening for Downs syndrome, assuming 75% uptake, 60% detection, and termination of all affected pregnancies, would reduce liveborn cases of Downs syndrome by 45%, liveborn cases of congenital heart disease by 3.5%, and cardiac surgery by 2.6%. CONCLUSIONS--Screening for congenital heart disease using the four chamber view in routine obstetric examinations and maternal serum screening for Downs syndrome is likely to have only a small effect on the requirements for paediatric cardiology services and paediatric cardiac surgery.