title: Accuracy of prenatal diagnosis in elective termination of pregnancy: 385 cases from 2000 to 2007.
abstract: Objective. To evaluate the quality of prenatal results in all cases of termination of pregnancy (TOP) due to fetal abnormalities in a tertiary prenatal diagnosis center. Material and Methods. Retrospective analysis of the 385 TOP performed on our department due to fetal abnormalities between January 1, 2000, and December 31, 2007. We compared all data for agreement between the ultrasound, genetic, and postmortem findings, regarding the abnormalities identified in the etiological diagnosis and its prognosis. Results. Chromosome abnormalities were the most common indication for TOP (39%), followed by abnormalities of CNS (20%), monogenic disorders (11%), sequences (9.6%), polimalformative syndromes (5.2%), and isolated congenital heart diseases (4%). Total agreement was 21%. Further abnormalities were identified in 79%. The data collected after TOP changed the etiologic diagnosis in 21% but the prognosis was changed in only one fetus. Discussion. This study corroborates the necessity of a multidisciplinary team in prenatal diagnosis centers. Their work remarkably improves the genetic counseling and represents an important aspect in quality control of the information given to a couple previously to a TOP.
authors.affiliation: Serviço de Genética Médica, Centro Hospitalar de Coimbra, Avenida Bissaya Barreto, 3000-076 Coimbra, Portugal.
authors.forename: Fabiana
authors.initials: F
authors.lastname: Ramos
authors.forename: Sofia
authors.initials: S
authors.lastname: Maia
authors.forename: Miguel
authors.initials: M
authors.lastname: Branco
authors.forename: Joana
authors.initials: J
authors.lastname: Raposo
authors.forename: Joaquim
authors.initials: J
authors.lastname: Sá
authors.forename: Sérgio
authors.initials: S
authors.lastname: Sousa
authors.forename: Margarida
authors.initials: M
authors.lastname: Venâncio
authors.forename: Raquel
authors.initials: R
authors.lastname: Pina
authors.forename: Eulália
authors.initials: E
authors.lastname: Galhano
authors.forename: Lina
authors.initials: L
authors.lastname: Ramos
authors.forename: Jorge
authors.initials: J
authors.lastname: Saraiva