Increased incidence of esophageal atresia in northwest Tuscany: years 1994-2007.

AIM: Esophageal atresia (EA) and imperforate anus are congenital disorders with an incidence that ranges between 1/4000 and 1/5000 births. The aim of this work was to assess the incidence of these malformations in northwest Tuscany and the associated anomalies in comparison with the data published by the Tuscan Congenital Diseases Registry. METHODS: A retrospective study was made analyzing the cases of these malformations in the years 1994-2007 on a total of 25051 births at the Division of Neonatology of S. Chiara Hospital, Pisa. RESULTS: The authors found 14 cases of EA and 5 cases of imperforate anus. In these case histories of EA and imperforate anus the incidence was 1/1800 and 1/5000 respectively in comparison with the data issued by the Tuscan Congenital Diseases Registry with an incidence of 1/6644 and 1/1403 in all Tuscany. Five cases of EA (35%) and 2 cases of imperforate anus (40%) were associated with other congenital malformations. CONCLUSION: Our retrospective study shows a higher incidence of EA in northwest Tuscany than in all the rest of Tuscany unlike the incidence of imperforate anus that it is the same of the rest of Tuscany. In both cases isolated form is most frequent than syndromic one.

Neonatal outcome in newborns from mothers with endocrinopathies.

INTRODUCTION: Hypothyroidism and gestational diabetes are common endocrine disorders in pregnancy. Our aim is to evaluate the outcome of newborns from mothers with hypothyroidism and from mothers with gestational diabetes. PATIENTS AND METHODS: The study analysed 216 newborns: 112 from mothers with gestational diabetes and 104 from mothers with hypothyroidism. For each case, we included as a control a newborn of same sex and gestational age from a mother without diabetes or thyreopathy. RESULTS: In newborns from mothers with gestational diabetes there was an increased frequency of hypoglycaemia and hypocalcaemia, of lower head circumference and of small-for-gestational age (SGA) birth or macrosomy (LGA) than controls. The newborns from mothers with hypothyroidism are more frequently SGA or LGA and they have a slightly increased risk of hypoglycaemia. CONCLUSIONS: Newborns from mothers with diabetes mellitus or hypothyroidism have an increased risk of being SGA or LGA, and to develop a mild transient hypoglycaemia. Newborns from mothers with diabetes mellitus have also an increased risk to develop hypocalcaemia and to have a lower head circumference than controls. Thus, to prevent SGA or LGA births, it is very important an early diagnosis and treatment, and a strict metabolic control of these conditions.