Respiratory distress syndrome (RDS) and transient tachypnoea (TT) are the most frequent acute respiratory diseases in the newborn. This study investigated the risk factors for RDS and TT in newborn infants.A population of 63,537 newborns was enrolled in a 12-month survey in Italy, 734 (1.15%) affected by RDS and 594 (0.93%) affected by TT. Multivariate regression analysis of maternal and perinatal data and the calculation of odds ratios (with 95% confidence intervals) were performed.It was demonstrated that gestational age, birthweight, maternal age, elective and emergency caesarean section (CS), and male sex were risk factors for RDS, while gestational age, maternal diseases, twinning, birthweight, operative vaginal delivery, elective and emergency CS, and male sex were risk factors for TT.The data confirm previous reports and demonstrate that advanced maternal age is a risk factor for RDS, while ruling out maternal diseases as independent risk factors for RDS. Eur Respir J 1999; 14: 155±159. Morbidity and mortality in the neonatal period are mainly due to respiratory disorders, respiratory distress syndrome (RDS), with transient tachypnoea (TT) being the most frequent. Recently, only a few area-based prospective studies have been carried out evaluating the occurrence of acute respiratory illness and its risk factors. Moreover, virtually none have been performed after the introduction of antenatal induction of lung maturity. In 1981, HJALMARSON [1] related the frequency of acute respiratory disorders to gestational age, birthweight, sex and postnatal asphyxia and, in 1994, BONAFE Á and RUBALTELLI [2] related the incidence of neonatal respiratory disorders to gestational age and birthweight.The purpose of this study was to investigate maternal and perinatal risk factors for RDS and TT in newborn infants. The Italian Group of Neonatal Pneumology performed a multicentre prospective study with the primary end point of evaluation of the incidence of major acute neonatal respiratory illnesses and related complications [3]. The collected data set was large enough to permit examination of the perinatal and maternal risk factors for the development of RDS and of TT in the neonate.

In the last decade a high frequency of other congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. In the present study the occurrence of additional congenital malformations (CM) in the population of CH infants detected in Italy between 1991 and 1998 (n = 1420) was investigated. In Italy all of the centers in charge of screening, treatment, and follow-up of CH adhere to the Italian National Registry of infants with CH. In this study a high prevalence of additional CM (8.4%), more than 4-fold higher than that reported in the Italian population (1-2%), was found in the population of CH infants. Cardiac anomalies represented the most frequent malformations associated with CH, with a prevalence of 5.5%. However, a significant association between CH and anomalies of nervous system, eyes, and multiple CM was also observed. In conclusion, the significantly higher frequency of extrathyroidal congenital malformations reported in the CH infants than in the general population represents a further argument supporting the role of a genetic component in the etiology of CH. Investigations of the molecular mechanisms underlying developmental events of formation of thyroid and other organs represent critical steps in the knowledge of CH etiology.

During 1984-1989, 116 cases of omphalocele and 42 cases of gastroschisis were detected among 736,760 consecutive births in the area covered by five Italian congenital malformation registries. The prevalence rate was 1.6 per 10,000 for omphalocele and 0.6 per 10,000 for gastroschisis. Three additional cases were detected among spontaneous abortions, giving a total of 117 cases of omphalocele and 44 of gastroschisis. No variations in prevalence rates were observed among registries. A cluster of omphalocele was found in 1989 in Firenze. All cases were sporadic except for one infant with two sibs with Beckwith-Wiedemann syndrome. A predominance of male infants was observed for both defects. This study confirms the very young maternal age for isolated gastroschisis as compared to that for omphalocele and controls. Birth weight and the percentage of small-for-date is different among isolated gastroschisis, omphalocele and controls. Associated anomalies occurred in 45 cases of omphalocele and 11 cases of gastroschisis. Our data confirm the association of omphalocele with trisomies 13 and 18. Twelve cases of omphalocele and gastroschisis with associated limb defects were classified as limb body wall complex. The possible differences in etiopathology between omphalocele and gastroschisis, both isolated and associated, are discussed.

A prospective multicentre 12‐month survey of neonatal respiratory disorders in 63 537 Italian infants was performed to evaluate the incidence of acute neonatal respiratory disorders and of the main related complications. A total of 1427 developed respiratory disorders (2.2%), 208 of whom died (14.6%). The incidence of respiratory distress syndrome was 1.16%, with a case fatality rate (CFR) of 24%; that of transient tachypnoea was 0.93%, with a CFR of 1.3%. The rates of meconium aspiration syndrome, persistent pulmonary hypertension and pneumonia were 0.06%, 0.02% and 0.07%, with CFRs of 10.3%, 38.5% and 21.7%, respectively. The occurrences of the main complications in affected newborns were: bronchopulmonary dysplasia 5.6%, necrotizing enterocolitis 1.7%, patent ductus arteriosus 9.8%, 3o and 4o grade intraventricular haemorrhage 6.8% and air leak 4.9%. It was concluded that the incidence of acute neonatal respiratory disorders and the main related complications was lower than that reported two decades ago and that the CFR of acute neonatal respiratory disorders had increased. These results may be the consequences of (i) progress in the management of high‐risk pregnancies, (ii) an increased number of viable infants with extremely low birth weight and (iii) diffusion of antenatal treatment with corticosteroids which, in this series, seemed to reduce the morbidity but not the mortality in the high‐risk infants.

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