Mats Mellander

Impact of pulse oximetry screening on the detection of duct dependent congenital heart disease: a Swedish prospective screening study in 39 821 newborns

Objective To evaluate the use of pulse oximetry to screen for early detection of life threatening congenital heart disease. Design Prospective screening study with a new generation pulse oximeter before discharge from well baby nurseries in West Götaland. Cohort study comparing the detection rate of duct dependent circulation in West Götaland with that in other regions not using pulse oximetry screening. Deaths at home with undetected duct dependent circulation were included. Setting All 5 maternity units in West Götaland and the supraregional referral centre for neonatal cardiac surgery. Participants 39 821 screened babies born between 1 July 2004 and 31 March 2007. Total duct dependent circulation cohorts: West Götaland n=60, other referring regions n=100. Main outcome measures Sensitivity, specificity, positive and negative predictive values, and likelihood ratio for pulse oximetry screening and for neonatal physical examination alone. Results In West Götaland 29 babies in well baby nurseries had duct dependent circulation undetected before neonatal discharge examination. In 13 cases, pulse oximetry showed oxygen saturations ≤90%, and (in accordance with protocol) clinical staff were immediately told of the results. Of the remaining 16 cases, physical examination alone detected 10 (63%). Combining physical examination with pulse oximetry screening had a sensitivity of 24/29 (82.8% (95% CI 64.2% to 95.2%)) and detected 100% of the babies with duct dependent lung circulation. Five cases were missed (all with aortic arch obstruction). False positive rate with pulse oximetry was substantially lower than that with physical examination alone (69/39 821 (0.17%) v 729/38 413 (1.90%), P<0.0001), and 31/69 of the “false positive” cases with pulse oximetry had other pathology. Thus, referral of all cases with positive oximetry results for echocardiography resulted in only 2.3 echocardiograms with normal cardiac findings for every true positive case of duct dependent circulation. In the cohort study, the risk of leaving hospital with undiagnosed duct dependent circulation was 28/100 (28%) in other referring regions versus 5/60 (8%) in West Götaland (P=0.0025, relative risk 3.36 (95% CI 1.37 to 8.24)). In the other referring regions 11/25 (44%) of babies with transposition of the great arteries left hospital undiagnosed versus 0/18 in West Götaland (P=0.0010), and severe acidosis at diagnosis was more common (33/100 (33%) v 7/60 (12%), P=0.0025, relative risk 2.8 (1.3 to 6.0)). Excluding premature babies and Norwood surgery, babies discharged without diagnosis had higher mortality than those diagnosed in hospital (4/27 (18%) v 1/110 (0.9%), P=0.0054). No baby died from undiagnosed duct dependent circulation in West Götaland versus five babies from the other referring regions. Conclusion Introducing pulse oximetry screening before discharge improved total detection rate of duct dependent circulation to 92%. Such screening seems cost neutral in the short term, but the probable prevention of neurological morbidity and reduced need for preoperative neonatal intensive care suggest that such screening will be cost effective long term.

Isolated Atrioventricular Block in the Fetus A Retrospective, Multinational, Multicenter Study of 175 Patients

Background— Isolated complete atrioventricular block in the fetus is a rare but potentially lethal condition in which the effect of steroid treatment on outcome is unclear. The objective of this work was to study risk factors associated with death and the influence of steroid treatment on outcome. Methods and Results— We studied 175 fetuses diagnosed with second- or third-degree atrioventricular block (2000–2007) retrospectively in a multinational, multicenter setting. In 80% of 162 pregnancies with documented antibody status, atrioventricular block was associated with maternal anti-Ro/SSA antibodies. Sixty-seven cases (38%) were treated with fluorinated corticosteroids for a median of 10 weeks (1–21 weeks). Ninety-one percent were alive at birth, and survival in the neonatal period was 93%, similar in steroid-treated and untreated fetuses, regardless of degree of block and/or presence of anti-Ro/SSA. Variables associated with death were gestational age <20 weeks, ventricular rate ≤50 bpm, fetal hydrops, and impaired left ventricular function at diagnosis. The presence of ≥1 of these variables was associated with a 10-fold increase in mortality before birth and a 6-fold increase in the neonatal period independently of treatment. Except for a lower gestational age at diagnosis in treated than untreated (23.4±2.9 versus 24.9±4.9 weeks; P =0.02), risk factors were distributed equally between treatment groups. Two-thirds of survivors had a pacemaker by 1 year of age; 8 children developed cardiomyopathy. Conclusions— Risk factors associated with a poor outcome were gestation <20 weeks, ventricular rate ≤50 bpm, hydrops, and impaired left ventricular function. No significant effect of treatment with fluorinated corticosteroids was seen. # Clinical Perspective {#article-title-22}Background— Isolated complete atrioventricular block in the fetus is a rare but potentially lethal condition in which the effect of steroid treatment on outcome is unclear. The objective of this work was to study risk factors associated with death and the influence of steroid treatment on outcome. Methods and Results— We studied 175 fetuses diagnosed with second- or third-degree atrioventricular block (2000–2007) retrospectively in a multinational, multicenter setting. In 80% of 162 pregnancies with documented antibody status, atrioventricular block was associated with maternal anti-Ro/SSA antibodies. Sixty-seven cases (38%) were treated with fluorinated corticosteroids for a median of 10 weeks (1–21 weeks). Ninety-one percent were alive at birth, and survival in the neonatal period was 93%, similar in steroid-treated and untreated fetuses, regardless of degree of block and/or presence of anti-Ro/SSA. Variables associated with death were gestational age <20 weeks, ventricular rate ⩽50 bpm, fetal hydrops, and impaired left ventricular function at diagnosis. The presence of ≥1 of these variables was associated with a 10-fold increase in mortality before birth and a 6-fold increase in the neonatal period independently of treatment. Except for a lower gestational age at diagnosis in treated than untreated (23.4±2.9 versus 24.9±4.9 weeks; P=0.02), risk factors were distributed equally between treatment groups. Two-thirds of survivors had a pacemaker by 1 year of age; 8 children developed cardiomyopathy. Conclusions— Risk factors associated with a poor outcome were gestation <20 weeks, ventricular rate ⩽50 bpm, hydrops, and impaired left ventricular function. No significant effect of treatment with fluorinated corticosteroids was seen.

Failure to diagnose critical heart malformations in newborns before discharge--an increasing problem?

AIM To determine what proportion of newborns with critical heart defects are discharged undiagnosed from the maternity ward. METHODS Data were retrieved retrospectively for infants born in our referral area from 1993 to 2001 and undergoing surgical or catheter-based intervention before 2 mo of age because of critical heart defects. RESULTS 259 full-term infants had critical heart defects. Duct-dependent systemic circulation was present in 129, duct-dependent pulmonary circulation in 106, and 24 infants were not duct dependent but critically ill. In 51 infants (20%) the heart defect was not suspected before discharge from the maternity ward. Such late detection occurred more often in infants with duct-dependent systemic circulation (30%) and in children with defects that were not duct dependent (38%) than in children with duct-dependent pulmonary circulation (4%) (p<0.001). The proportion detected after discharge from the maternity ward increased from 13% in 1993-1995 and 21% in 1996-1998 to 26% in 1999-2001 (p<0.05). CONCLUSION Many infants with critical congenital heart defects are not diagnosed before discharge from the neonatal maternity ward. The proportion discharged undiagnosed has increased. Neonatal screening fails mainly in children with duct-dependent systemic circulation.

Total anomalous pulmonary venous connection: impact of prenatal diagnosis

To investigate whether prenatal screening is effective in the detection of total anomalous pulmonary venous connection (TAPVC) and to identify common prenatal features.

Recommendations for the practice of fetal cardiology in Europe.

F ETAL CARDlOLOGY IS CURRENTLY PRACTISED IN of rhythm. An early accurate diagnosis will make most European countries, blit even within possible parental choice, as well as providing the countries there is a great variation in the service opportunity to plan the delivery and postnatal provided. The recommendations provided in this management so as to optimize the outcome, document are intended to be guide for all paediatric Support can also be provided to specialists in fetal cardiologists undertaking fetal echocardiography with medicine, and to obstetricians, in the management the view of providing a service in fetal cardiology. It is of fetuses with functional disturbances, as in tWinclear that the health and legal systems vary from counto-tWin transfusion syndrome try to country, so that not all aspects of these recomb. To provide appropriate counselling and support mendations Can be implemented in all countries, The for parents and families following prenatal recommendations, nonetheless, provide a framework diagnosis l that can be adapted to fit in with local situations, c, To communicate results to the referring obstetri-

Development of heart block in children of SSA/SSB-autoantibody-positive women is associated with maternal age and displays a season-of-birth pattern

Objective Congenital heart block may develop in the fetuses of Ro/SSA-positive and La/SSB-positive mothers. Recurrence rates of only 10–20% despite persisting maternal antibodies indicate that additional factors are critical for the establishment of heart block. The authors investigated the influence of other maternal and fetal factors on heart block development in a Swedish population-based cohort. Methods The influence of fetal gender, maternal age, parity and time of birth on heart block development was analysed in 145 families, including Ro/La-positive (n=190) and Ro/La-negative (n=165) pregnancies. Results There was a recurrence rate of 12.1% in Ro/La-positive women, and no recurrence in Ro/La-negative women. Fetal gender and parity did not influence the development of heart block in either group. Maternal age in Ro/La-positive pregnancies with a child affected by heart block was, however, significantly higher than in pregnancies resulting in babies without heart block (p<0.05).Seasonal timing of pregnancy influenced the outcome. Gestational susceptibility weeks 18–24 occurring during January–March correlated with a higher proportion of children with heart block and lower vitamin D levels during the same period in a representative sample of Swedish women and a corresponding higher proportion of children with heart block born in the summer (p<0.02). Maternal age or seasonal timing of pregnancy did not affect the outcome in Ro/La-negative pregnancies. Conclusion This study identifies maternal age and seasonal timing of pregnancy as novel risk factors for heart block development in children of Ro/La-positive women. These observations may be useful for counselling when pregnancy is considered.

A population-based investigation of the autoantibody profile in mothers of children with atrioventricular block.

The objective of the study was to investigate the antigen specificity and occurrence of individual autoantibodies in mothers of children diagnosed with atrioventricular (AV) block in a nation‐wide setting. Patients with AV block detected before 15 years of age were identified using national quality registries as well as a network of pediatric and adult cardiologists and rheumatologists at the six university hospitals in Sweden. Patients with gross heart malformations, surgically or infectiously induced blocks were excluded. Blood samples were obtained from the mothers and maternal autoantibody profile, including the occurrence of antibodies against Ro52, Ro60, La, SmB, SmD, RNP‐70k, RNP‐A, RNP‐C, CENP‐C, Scl‐70, Jo‐1, ribosomal RNP and histones was investigated in 193 mothers of children with AV block by immunoblotting and ELISA. Autoantibody reactivity was detected in 48% (93/193) of the mothers of children with AV block. In autoantibody‐positive mothers, the vast majority, 95% (88/93), had antibodies against Ro52, while 63% (59/93) had autoantibodies to Ro60 and 58% (54/93) had autoantibodies to La. In addition, 13% (12/93) of the autoantibody‐positive mothers had antibodies to other investigated antigens besides Ro52, Ro60 and La, and of these anti‐histone antibodies were most commonly represented, detected in 8% (7/93) of the mothers. In conclusion, this Swedish population‐based study confirms that maternal autoantibodies may associate with heart block in the child. Further, our data demonstrate a dominant role of Ro52 antibodies in association with AV block.

Nordic pulse oximetry screening – implementation status and proposal for uniform guidelines

Pulse oximetry screening of newborn infants increases early detection of critical congenital heart disease and minimises the risk of circulatory collapse before surgery. This study provides an update on the implementation of pulse oximetry screening in the Nordic countries and proposes standardised guidelines.

MINERALIZATION DEFECTS IN DECIDUOUS TEETH OF LOW BIRTHWEIGHT INFANTS

ABSTRACT. A group of 91 children with birthweights below 2000 g and 48 healthy full‐term children, reference group, were examined for mineralization disturbances of the enamel of deciduous teeth. Perinatal data were collected retrospectively from obstetric and neonatal records. Within the low birthweight group, children with enamel hypoplasia had on the 5% level a significantly lower intake of breast milk during the first week of life than children without disturbances. The only perinatal complication associated with development of mineralization defects was IRDS. Infants with IRDS, however, had a significantly lower intake of breast milk during the first week of life than low birthweight without IRDS. A low frequency of enamel defects was found in the growth‐retarded sub‐group of the low birthweight infants. These infants had a significantly higher intake of breast milk during the first week compared to the AGA‐group. A seasonal variation was found, with the highest prevalence of mineralization disturbances in infants born during winter months. It is concluded that the occurrence of mineralization defects of the deciduous teeth in LBW infants seems to be dependent upon the amount of breast milk given during the early neonatal period and also possibly in which season of the year they are born.

Natural history of 107 cases of fetal aortic stenosis from a European multicenter retrospective study

Fetal aortic valvuloplasty (FV) aims to prevent fetal aortic valve stenosis progressing into hypoplastic left heart syndrome (HLHS), which results in postnatal univentricular (UV) circulation. Despite increasing numbers of FVs performed worldwide, the natural history of the disease in fetal life remains poorly defined. The primary aim of this study was to describe the natural history of fetal aortic stenosis, and a secondary aim was to test previously published criteria designed to identify cases of emerging HLHS with the potential for a biventricular (BV) outcome after FV.