Alf Meberg

First Day of Life Pulse Oximetry Screening to Detect Congenital Heart Defects

OBJECTIVE To evaluate the efficacy of first day of life pulse oximetry screening to detect congenital heart defects (CHDs). STUDY DESIGN We performed a population-based prospective multicenter study of postductal (foot) arterial oxygen saturation (SpO(2)) in apparently healthy newborns after transfer from the delivery suite to the nursery. SpO(2) < 95% led to further diagnostic evaluations. Of 57,959 live births, 50,008 (86%) were screened. In the screened population, 35 CHDs were [corrected] classified as critical (ductus dependent, cyanotic). CHDs were prospectively registered and diagnosed in 658/57,959 (1.1%) [corrected] RESULTS Of the infants screened, 324 (0.6%) failed the test. Of these, 43 (13%) had CHDs (27 critical), and 134 (41%) had pulmonary diseases or other disorders. The remaining 147 infants (45%) were healthy with transitional circulation. The median age for babies with CHDs at failing the test was 6 hours (range, 1-21 hours). For identifying critical CHDs, the pulse oximetry screening had a sensitivity rate of 77.1% (95% CI, 59.4-89.0), specificity rate of 99.4% (95% CI, 99.3-99.5), and a false-positive rate of 0.6% (95% CI, 0.5-0.7). CONCLUSIONS Early pulse oximetry screening promotes early detection of critical CHDs and other potentially severe diseases. The sensitivity rate for detecting critical CHDs is high, and the false-positive rate is low.

Outcome of congenital heart defects--a population-based study.

In a population‐based study including 35 218 infants born alive during the 15‐y period 1982–96, 360 (1%) were diagnosed as having a congenital heart defect (CHD). At a follow‐up 3–18 y after birth (median 9.5 y) 154 patients (42.8%) were spontaneously cured; of these, 142 (92.2%) had ventricular septal defects (VSDs). Forty‐two patients (11.7%) died, 22 of these (52.4%) during the neonatal period (0–28 d after birth). A total of 119 patients (33.1%) underwent therapeutic procedures (surgery, catheter interventions), 24 (20.2%) of whom died. Of the 95 children surviving therapeutic procedures, 54 (56.8%) had their defects completely repaired, while 41 (43.2%) had residual defects or cardiac sequelae, often of minor importance. In 69 children (19.2%) with persistent non‐operated defects, 43 (62.3%) had VSDs. A chromosomal disorder, syndrome or associated extracardiac malformation occurred in 72 children (20%).

Pulse oximetry screening as a complementary strategy to detect critical congenital heart defects.

Objective: To compare strategies with and without first‐day of life pulse oximetry screening to detect critical congenital heart defects (CCHDs).

Increasing incidence of ventricular septal defects caused by improved detection rate

Meberg A, Otterstad JE, Frøland G, Sørland S, Nitter‐Hauge S. Increasing incidence of ventricular septal defects caused by improved detection rate. Acta Pzdiatr 1994;83:653–7. Stockholm. ISSN 0803–5253

Early clinical screening of neonates for congenital heart defects: the cases we miss

In a population-based study of 35,218 infants born alive during the 15 years from 1982 to 1996, 353 (1%) were diagnosed as having a congenital heart defect, of whom 84 (24%) were diagnosed subsequent to discharge from hospital after birth (2.4/1000). Of these, 40 (48%) had a ventricular septal defect, 14 (17%) an atrial septal defect, 9 (11%) a patent arterial duct, 8 (10%) an aortic stenosis and 13 (15%) other defects. Compared with those in whom diagnosis was made before discharge, the group of patients with defects detected late had an increased prevalence of atrial septal defects, patent arterial duct and aortic stenosis, but less decreased prevalence of ventricular septal defects (p < 0.05). Median age at detection of the defects subsequent to discharge was 6 months (range 2 weeks-11 years). Seven patients (8%) presented with clinical symptoms of cardiac decompensation. The mortality rate was significantly lower in those in whom defects were detected late (1/84; 1%) as compared with those detected immediately after birth (37/269; 14%) (p < 0.05). The total rate for early detection was the same after using one clinical examination (8.2/1000) of newborns as our basic routine instead of two (7.1/1000) (p > 0.05). A substantial proportion of congenital cardiac malformations are detected after discharge from hospital after birth. Some patients with these lesions present with cardiac decompensation and are in need of medication and surgery. One clinical examination of newborns detects congenital malformations of the heart as efficient as two.

Congenital heart defects—chromosomal anomalies, syndromes and extracardiac malformations

Aim: To register chromosomal anomalies, syndromes and extracardiac malformations in patients with Congenital heart defects (CHDs).

Respiratory syncytial virus infections in congenital heart defects--hospitalizations and costs.

AIMS To register hospitalizations for respiratory syncytial virus (RSV) infections and estimate costs of prophylaxis with humanized monoclonal antibodies (palivizumab) against RSV, compared to hospital care, in cases with congenital heart defects (CHDs). METHODS Population based study with prospective registration of CHDs. Costs for hospital treatment of RSV-infections in CHD-patients calculated by means of the Norwegian Diagnosis Related Groups system. RESULTS In 43 470 infants live born in the population through the 18-year period 1987-2004 a structural CHD was diagnosed in 527 (1.2%). A total of 898 (2.1%) hospitalizations for RSV-infections occurred in the study population 1987-2005. The hospital admittance rate was significantly higher for CHD-cases (4.8%) than for children without CHD (2%) (P = 0.002). Severe CHDs (need for surgery or catheter intervention) had a higher admittance rate (9.2%) compared to the group of remaining CHDs (3.3%) (P = 0.01). Number needed to treat with palivizumab to avoid one hospitalization for RSV-infection in cases of severe CHDs was calculated to 24, at costs of US dollar 195,000. The expenses for palivizuamab prophylaxis in severe CHDs were 31 times that of hospital treatment. CONCLUSION Prophylaxis with palivizumab in severe CHDs is not cost-effective.

Congenital heart defects: the patients who die.

AIMS To register mortality and causes of death in patients with congenital heart defects (CHDs). METHODS Prospective population-based observational study. RESULTS 553 infants with CHD (1.1% of live born) were observed for 1-22 y (median 10 7/12 y). Sixty-four died (11.6%), of whom 32 (50%) died during the first 4 wk, and 51 (79.7%) during the first year of life. Of the total neonatal deaths in the population (3 per 1000), CHDs occurred in 21.5%. Mortality for children with CHDs was not significantly different between the cohorts born in 1982-1991 and 1992-2002, for either neonatal deaths or deaths later on (p>0.05). Out of 170 patients in whom therapeutic procedures (surgery, catheter interventions) were undertaken, 34 (20%) died. Nine cases (1.6%) died with unrecognized CHDs; seven of these on the first day of life with severe extracardiac malformations. In 50 (78.1%) cases, death was judged to be caused directly or indirectly from the CHD, and in 14 (21.9%) from extracardiac malformations or other conditions. CONCLUSION CHDs occur in a substantial number of neonatal deaths. Most deaths are caused by cardiac insufficiency. The mortality rate remained unchanged.

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.

HUMORAL REGULATION OF ERYTHROPOIESIS AND THROMBOPOIESIS IN APPROPRIATE AND SMALL FOR GESTATIONAL AGE INFANTS

Fourteen infants with birth weight appropriate for gestational age (AGA) and 16 small for gestational age (SGA) infants were investigated for haemoglobin concentration, haematocrit level and thrombocyte count on the first day of life. Cord serum was tested for erythropoietin (ESF) and thrombopoietin (TSF) activity. The same investigations were performed on venous blood and serum from 18 healthy adult individuals. SGA infants had higher haemoglobin concentration and haematocrit level (p less than 0.05), and lower platelet count (p less than 0.001) than AGA infants. Significant ESF activity was present in cord serum, but was not detectable in serum from adults. Significant TSF activity was present in cord serum as well as in serum from adults, with higher levels in the newborn infants (p less than 0.05). An inverse relationship was found between serum TSF activity and the number of platelets in adults, which was not demonstrable in newborn infants. Long-term intrauterine hypoxia because of placental dysfunction may be the reason for polycythemia and thrombocytopenia in SGA infants. Thrombocytopenia may be caused by competitive mechanisms on common stem cells for erythropoiesis and thrombopoiesis, shunting stem cells in direction of erythropoiesis during hypoxic exposure. Normal serum TSF activity in SGA infants indicates that lack of the humoral factor for platelet production is not the reason for the thrombocytopenia in these infants. A negative feed-back mechanism may exist between platelet number and TSF production.