PMID- 12923860
OWN - NLM
STAT- MEDLINE
DCOM- 20031212
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 121A
IP  - 3
DP  - 2003 Sep 1
TI  - Utilization of genetic counseling by parents of a child or fetus with congenital 
      malformation in North-East Italy.
PG  - 214-8
AB  - 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.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Mammi, Isabella
AU  - Mammi I
AD  - Servizio di Genetica Clinica, Dip. Pediatria, Universita di Padova, Italy.
FAU - Basile, Rosaria Teresa
AU  - Basile RT
FAU - Bellato, Silvano
AU  - Bellato S
FAU - Belli, Serena
AU  - Belli S
FAU - Benedicenti, Francesco
AU  - Benedicenti F
FAU - Boni, Stefania
AU  - Boni S
FAU - Castellan, Claudio
AU  - Castellan C
FAU - Clementi, Maurizio
AU  - Clementi M
FAU - Di Gianantonio, Elena
AU  - Di Gianantonio E
FAU - Petrella, Marilena
AU  - Petrella M
FAU - Turolla, Licia
AU  - Turolla L
FAU - Tenconi, Romano
AU  - Tenconi R
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
EIN - Am J Med Genet A. 2011 Apr;155A(4):942. multiple author names corrected
MH  - Child, Preschool
MH  - *Congenital Abnormalities/diagnosis/epidemiology/genetics
MH  - Female
MH  - Fetal Death
MH  - Genetic Counseling/*statistics & numerical data
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Italy/epidemiology
MH  - Netherlands/epidemiology
MH  - Parents/*psychology
MH  - Patient Compliance
MH  - Pregnancy
MH  - Pregnancy Outcome/epidemiology
MH  - Prenatal Diagnosis
EDAT- 2003/08/19 05:00
MHDA- 2003/12/13 05:00
CRDT- 2003/08/19 05:00
PHST- 2003/08/19 05:00 [pubmed]
PHST- 2003/12/13 05:00 [medline]
PHST- 2003/08/19 05:00 [entrez]
AID - 10.1002/ajmg.a.20255 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Sep 1;121A(3):214-8. doi: 10.1002/ajmg.a.20255.