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

Abstract

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.

Twenty-year trends in diagnosis of life-threatening neonatal cardiovascular malformations

“…In a much smaller study from a hospital with only 2300 births a year Meberg et al reported a lower rate of late diagnosis 14. They also found that coarctation of the aorta and aortic valve stenosis were the potentially dangerous malformations most likely to be overlooked before discharge.…”

Delayed recognition of haemodynamically relevant congenital heart disease

“…For years, published reports have addressed this issue aiming at increasing the neonatologists or paediatricians awareness of the suspicious clinical ®ndings and of the possible pitfalls in the clinical diagnosis of heart defects [5]; and yet, over the years, ®gures of the proportion of newborns and infants with their cardiac disease missed in early life have not really changed [7]. In 1986, it was reported that 32% of infants admitted to one centre for the presence of major congenital heart defects had initially been discharged home from the birth clinic [5].…”

“…In 1986, it was reported that 32% of infants admitted to one centre for the presence of major congenital heart defects had initially been discharged home from the birth clinic [5]. Two very recent populationbased studies again showed a high proportion of infants with heart defects not diagnosed early in life: in one report 24% of all children diagnosed as having congenital heart disease had initially been sent home as healthy from the birth clinic [7] and in another study it was observed that a substantial proportion of infants with initially undiagnosed cardiac malformations had an adverse outcome with 10% of all infants dying because of heart defects doing so with only post-mortem diagnosis of the cardiac anomaly [6]. A previous study even found a proportion as high as 30% of all infants dying from congenital heart disease not having been diagnosed until after death [1].…”

“…Often, this delay in making the correct diagnosis early in life aects the overall outcome of the children aected [1,5]. On the other hand, the neonatologist is confronted with a signi®cant number of neonates with murmurs and during the ®rst days of life, due to the normal circulatory changes, signi®cant cardiac defects may be masked by the presence of a persistant ductus arteriosus, thus making clinical diagnosis of heart disease dicult and inaccurate in a signi®cant number of patients [3,7].…”

Pulsoxymetriescreening kann die diagnostische Lücke bei kritischen angeborenen Herzfehlern verkleinern

“…Neben dem optimalen Zeitpunkt des POS werden in der Literatur der Grenzwert, bestimmte Anforderungen an die verwendeten Geräte und die Sinnhaftigkeit vergleichender Messungen an oberen und unteren Extremitäten diskutiert [6,11,15,17,19,30]. Der in unserer Studie verwendete Grenzwert (Normalbefund ≥96%) stimmt mit dem von Koppel et al [13] angegebenen überein.…”