title: Impact of prenatal diagnosis on outcome of pulmonary atresia and intact ventricular septum.
abstract: OBJECTIVE
  To determine the impact of fetal echocardiography on the management of pregnancy and of newborns affected by pulmonary atresia and intact ventricular septum (PAIVS) and to evaluate the outcome of infants with and without prenatal diagnosis of PAIVS.
  
  
  METHODS
  We searched our database for cases of PAIVS prenatally and postnatally diagnosed during the period January 1993-December 2009. Postnatal follow-up was available in all cases included in the study. Karyotyping and fluorescent in situ hybridization analysis for the DiGeorge critical region (22q11.2) were performed in all but one case.
  
  
  RESULTS
  The study comprised 60 cases of PAIVS: 36 with (Group A) and 24 without (Group B) prenatal diagnosis. In Group A, there were two intrauterine deaths, six postnatal deaths (five early after birth) and one termination of pregnancy. In this group, radiofrequency (RF) perforation was successfully performed in 25 cases; 20/25 infants had a biventricular (BV) repair, without further operation in 13 of them. No patient of Group B died. In this group, RF perforation was successfully performed in 22 cases; 20/22 had a BV repair without further procedure in 15 of them.
  
  
  CONCLUSIONS
  Prenatal diagnosis of PAIVS allows a reliable prognosis of severity and planning of proper surgical repair strategies. Fetuses that are prenatally diagnosed present a more severe spectrum of the disease; for the cases capable of getting through the neonatal period, the mortality rate and the need for further intervention were not significantly different when compared with babies with only postnatal diagnosis.
authors.affiliation: Department of Pediatric Cardiology and Cardiac Surgery, Giannina Gaslini Institute, Genova, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Tuo
authors.forename: Paolo
authors.initials: P
authors.lastname: Volpe
authors.forename: Sara
authors.initials: S
authors.lastname: Bondanza
authors.forename: Nicola
authors.initials: N
authors.lastname: Volpe
authors.forename: Margherita
authors.initials: M
authors.lastname: Serafino
authors.forename: Valentina
authors.initials: V
authors.lastname: De Robertis
authors.forename: Lucio
authors.initials: L
authors.lastname: Zannini
authors.forename: Giacomo
authors.initials: G
authors.lastname: Pongiglione
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Calevo
authors.forename: Maurizio
authors.initials: M
authors.lastname: Marasini
mesh_terms: D004452:Echocardiography / Q000379:methods; D005260:Female; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000000981:diagnostic imaging / Q000453:epidemiology; D007558:Italy / Q000453:epidemiology; D008297:Male; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular / Q000000981:diagnostic imaging / Q000473:pathology; D011256:Pregnancy Outcome / Q000453:epidemiology*; D018633:Pulmonary Atresia / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000473:pathology; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal / Q000379:methods / Q000706:statistics & numerical data; D054088:Ventricular Septum / Q000473:pathology