title: Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East Italy.
abstract: Congenital malformations (CM) affect 2-3% of all births, the cause of which, when known, is genetic in 80-90% of cases. A genetic consultation (GC) is indicated for the parents of a child affected by a CM. This study analyzes the parental utilization of genetic counseling (GCU) and its possible influencing factors after termination of pregnancy (TOP) because of fetal anomalies or after the birth of a child affected by a major malformation. The study concerns cases in North-East Italy where there is a CM registry and a center-satellite system for genetic counseling. The results of this analysis are also compared to other similar studies, which address the same topic. Between 1981 and 2000, 1,235 out of 14,888 GC were performed because of the presence of a CM in a child/fetus. In the same period, 4,933 births and 1,112 TOPs were registered. The overall GCU was 19%, with significant differences according to malformative phenotype, severity of the malformative condition, type of birth, and viability. Genetic counseling was performed significantly sooner following TOP than after the birth of a malformed child. GCU showed an unequal distribution according to the parents' place of residence, suggesting that easy and equal access to the genetic service was probably not well provided for. Our results suggest that genetic services should be integrated with related services, and that the public and physicians need a greater awareness of these services.
authors.affiliation: Servizio di Genetica Clinica, Dip. Pediatria, Università di Padova, Italy.
authors.forename: Isabella
authors.initials: I
authors.lastname: Mammi
authors.forename: Mammi
authors.initials: M
authors.lastname: Isabella
authors.forename: Rosaria Teresa
authors.initials: RT
authors.lastname: Basile
authors.forename: Basile Rosaria
authors.initials: BR
authors.lastname: Teresa
authors.forename: Silvano
authors.initials: S
authors.lastname: Bellato
authors.forename: Bellato
authors.initials: B
authors.lastname: Silvano
authors.forename: Serena
authors.initials: S
authors.lastname: Belli
authors.forename: Belli
authors.initials: B
authors.lastname: Serena
authors.forename: Francesco
authors.initials: F
authors.lastname: Benedicenti
authors.forename: Benedicenti
authors.initials: B
authors.lastname: Francesco
authors.forename: Stefania
authors.initials: S
authors.lastname: Boni
authors.forename: Boni
authors.initials: B
authors.lastname: Stefania
authors.forename: Claudio
authors.initials: C
authors.lastname: Castellan
authors.forename: Castellan
authors.initials: C
authors.lastname: Claudio
authors.forename: Maurizio
authors.initials: M
authors.lastname: Clementi
authors.forename: Clementi
authors.initials: C
authors.lastname: Maurizio
authors.forename: Elena
authors.initials: E
authors.lastname: Di Gianantonio
authors.forename: Di Gianantonio
authors.initials: DG
authors.lastname: Elena
authors.forename: Marilena
authors.initials: M
authors.lastname: Petrella
authors.forename: Petrella
authors.initials: P
authors.lastname: Marilena
authors.forename: Licia
authors.initials: L
authors.lastname: Turolla
authors.forename: Turolla
authors.initials: T
authors.lastname: Licia
authors.forename: Romano
authors.initials: R
authors.lastname: Tenconi
authors.forename: Tenconi
authors.initials: T
authors.lastname: Romano
mesh_terms: D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D005260:Female; D005313:Fetal Death; D005817:Genetic Counseling / Q000706:statistics & numerical data*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007558:Italy / Q000453:epidemiology; D009426:Netherlands / Q000453:epidemiology; D010290:Parents / Q000523:psychology*; D010349:Patient Compliance; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000453:epidemiology; D011296:Prenatal Diagnosis