Discussion
Congenital anomalies are one of the major causes of neonatal morbidity and mortality.1–9 They affect approximately 2% of births in Europe.10 Despite improvements in perinatal care, serious birth defects account for 20% of all newborn deaths and a significant percentage in later morbidity of infant and childhood.1–8
Prenatal diagnosis, as discussed above, has significantly changed our understanding of congenital anomalies that can be treated surgically. Prenatal performance has increased considerably.5 11 From the assessment at several hospital centers in France, a significant increase in prenatal diagnosis was observed from 67.7% in the 1990–1995 period to 80.2% in the 1996–2001 period.12 In our country, despite an increase in prenatal diagnosis, compared with another study of the pediatric intensive care for the period 2000–2005, prenatal diagnosis remains low (19%), different from developed countries. As reported by Pasquier et al
12 and even in our study, the rate of prenatal diagnosis decreases with increasing distance between the residence and the referral center.
In our study 61.1% of cases originate from districts where prenatal diagnosis was ≈10%, affecting significantly the total prenatal diagnosis. It should be noted that prenatal diagnosis remains unsatisfactory in Tirana (≈25%).
Significant progress has been made in the last 50 years in the diagnosis and management of congenital anomalies. Very complex anomalies are treated with success of up to 90%.7 Even in our study we can say with satisfaction that mortality has been reduced significantly, from 31.4% in the first period of 2008–2012 to 24.6% in the second period of 2013–2017. With improvement in prenatal diagnosis, we expected to have probably some changes in the incidence of congenital anomalies, but there seems to be no significant change in the incidence of anomalies over the years, except a slight reduction for intestinal atresia during the second period.
Intestinal atresia is a common cause of neonatal obstruction, secondary to mesenteric vascular accidents during intrauterine life. They constitute the most frequent congenital anomaly, with 73 cases or 23% of all cases with congenital anomalies, followed by anal atresia with 18%, esophageal atresia with 16% and diaphragmatic hernia with 10%.
The incidence of intestinal atresia in our study ranges from 1:3000 to 1:11 000 live births. We underline that intestinal atresia includes duodenal and jejunoileal atresia. Worldwide, the incidence of duodenal atresia ranges from 1:5000 to 1:10 000 live births, whereas for jejunoileal atresia it was 1:400 to 1:2000 live births.13–16 What was observed in our study of intestinal atresia was the reduction of the total number of cases with intestinal atresia by almost 18% in the second period of 2013–2017 (median incidence from 0.23 to 0.19 per 1000 live births). The advances made in recent years in the intensive care, in surgical techniques and in parenteral nutrition have significantly increased the survival of neonates born with jejunoileal atresia.13–16 Surgical correction aims to preserve the bulk of the intestine, often through multiple anastomoses. Of course, there is no need to overcome the importance of prenatal diagnosis, which makes it possible to avoid delayed treatment. All of these elements have made possible a reduction in mortality in 11%–16% over the last decades. Even in our study, we see a satisfactory reduction of mortality from 30% in the first period of 2008–2012 to 18% in the second period of 2013–2017 (OR=0.51, 95% CI 0.17 to 1.57, p=0.24).
Esophageal atresia occupies the third place in surgical congenital anomalies in our country. The incidence in our country varies from 1:4300 to 1:16 600 live births. Worldwide, the incidence of esophageal atresia ranges from 1:2500 to 1:4500 live births.17–19 The prevalence of esophageal atresia has been shown to vary across different geographic settings.20 The highest incidence is described in Finland with 1:2500 live births.17 It is obvious that we are one of the countries with low incidence. There were no changes in incidence, but with high mortality in total compared with developed countries (despite 100% survival during the last year).17 21–23 The survival rate of esophageal atresia in developed countries has reached a plateau since 1980 and seems to be currently stable at around 95%.24 Pedersen et al
17 reported survival from 86.9% to 99.2% for esophageal atresia from 23 European countries in 1987–2006. Calisti et al
22 in their study reported survival from esophageal atresia in 90.6% of cases. In their study neither the age of pregnancy nor the weight at birth seemed to influence the prognosis of this pathology. Mortality was generally associated with associative cardiovascular anomalies and duration in invasive ventilation. Okamoto et al
25 in their study outline that survival of cases with esophageal atresia is associated with birth weight and with major cardiac anomalies. According to them, infants weighing >1500 g and who do not have major cardiac problems should have 100% survival, while the presence of a risk factor decreases survival to 80% and the presence of two risk factors decreases it to 30%–50%.25
Diaphragmatic hernia is one of the challenging anomalies for the intensivist. Its worldwide incidence is estimated to be 1:2000 to 1:5000 live births.26 There were geographic differences within Europe, with higher rates of gastroschisis in the UK and lower rates in Italy.27 The incidence in our country varies from 1:6600 to 1:16 600 live births, confirming that the incidence of this pathology in our country is low. Despite the fact that surgery is simple, choosing the right time for intervention and preoperative and postoperative stabilization remain quite difficult.28–30 This is why mortality of this pathology despite prenatal diagnosis remains high in developed countries as well.26 28–38 Mortality of this pathology is 30%–62%, with more favorable prognosis in the absence of other congenital anomalies.26 29 32 35 38 However, the survival rate in different institutions varies widely from 25% to 95%.26 29 32 35 36 38 Mortality of diaphragmatic hernia remains high in our country (50%–66%), without distinction between the two periods.
Gastroschisis is one of the main congenital anomalies. The incidence of this pathology in our study is approximately 1:11 000 live births. The European Surveillance of congenital anomalies (EUROCAT) workgroup reported that the incidence of gastroschisis increased from 0.60 to 10 000 births in 1980 to 2.33 for 10 000 births in 2000.27 There is no significant difference in the incidence of this pathology between the two periods in our study. To be appreciated is the fact that with the advances that have been made both in the surgical intervention and in the postoperative care, we have a significant reduction of mortality from 40% in the first period of 2008–2012 to 27% in the second period of 2013–2017. Overall, children born with this condition have an excellent prognosis, and today the survival rate is around 90%–95%.39–41
Given the value of prenatal diagnosis such as the emergence of a specialist tertiary center, the avoidance of urgent transfer and the timely completion of corrective surgical intervention, we have evaluated the impact of prenatal diagnosis on mortality. There was no statistically significant difference between the two periods, but it must be pointed out that the level of prenatal diagnosis remains very low in our country giving us clear information that it serves as a predictive positive factor for the prognosis of these pathologies.
Meanwhile, premature birth was a significant predictive factor for the prognosis of children with congenital surgical anomalies. Linhart et al
42 in their study also stressed that congenital anomalies in the preterm are an independent risk factor for neonatal morbidity and perinatal mortality. According to an experience in an Indian tertiary center, prematurity was a significant factor affecting survival.43 Deurloo et al
44 in their study found out that mortality among premature infants was higher than among those born in term (p=0.003). Manchanda et al
45 in their study with multivariate analysis also revealed that only gestational age was a significant predictor of overall mortality.