Prenatal diagnosis: periconceptional genetic studies - recommendations
Pichon Riviere A, Augustovski F, Cernadas C, Ferrante D, Regueiro A, Garcia Marti S
Record ID 32005000620
Spanish
Authors' objectives:
This study aims to provide recommendations on periconceptional genetic studies for prenatal diagnosis.
Authors' results and conclusions:
Invasive prenatal diagnostic techniques are procedures that may not be free of complications. The two most frequently used studies (amniocentesis and chorionic villi biopsy) increase the risk of fetal loss from about 0.5% to 1% compared with the baseline risk of having a spontaneous abortion of 3% for the period in which these studies are indicated (weeks 10 to 18) For these reasons, and because it is possible to stratify pregnancies according to their risk level for chromosomopathies, these diagnostic techniques are recommended when this risk is over a certain threshold, when the potential benefits offset the risks inherent to the procedure itself.
Authors' recommendations:
Invasive prenatal diagnosis through chorionic villi biopsy (CVB), amniocentesis or cordocentesis (percutaneous puncture of the umbilical cord) is advisable for pregnancies which have the risk of having specific and detectable genetic hereditary disorders. Advanced maternal age is the most frequent indication for cytogenetic prenatal diagnosis. The incidence of chromosomic abnormalities increases with the age, rising in an exponential manner in women over 35. This is why, prenatal diagnostic techniques are considered for patients that meet some of the following criteria: - Maternal age equal or greater than 35 at the time of delivery. - Abnormal maternal serology markers: Alpha fetoprotein, human chorionic gonadotrophin and estriol, together with the obstetric ultrasound. - Chromosomic abnormalities in prior birth. - Chromosomic abnormalities in parents - Mendelian (monogenic) or polygenic defects in parents. - Recurrent spontaneous abortions
Authors' methods:
Overview
Details
Project Status:
Completed
URL for project:
http://www.iecs.org.ar/
Year Published:
2003
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
Argentina
MeSH Terms
- Female
- Genetic Predisposition to Disease
- Pregnancy
- Prenatal Diagnosis
- Fetal Diseases
Contact
Organisation Name:
Institute for Clinical Effectiveness and Health Policy
Contact Address:
Dr. Emilio Ravignani 2024, Buenos Aires - Argentina, C1414 CABA
Contact Name:
info@iecs.org.ar
Contact Email:
info@iecs.org.ar
Copyright:
Institute for Clinical Effectiveness and Health Policy (IECS)
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