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The invasive prenatal diagnosis in perinatal centre
Z Hájek1, T Koleska, P Drbohlav
11st Obstetrics and Gynecology Department, 1st Faculty of Medicine, Charles University, Praha, Czech Republic.
Sbornik Lekarsky
|January 1, 1997
Summary
Prenatal diagnosis using Amniocentesis, Chorionic villi sampling, and Cordocentesis identified chromosomal abnormalities in 1.4% of fetuses. Inherited disorders and metabolic errors were also diagnosed, with a low fetal loss rate of 0.4%.
Area of Science:
- Perinatology
- Medical Genetics
- Fetal Medicine
Background:
- Prenatal diagnosis is crucial for identifying fetal genetic and chromosomal abnormalities.
- Established methods like Amniocentesis (AMC), Chorionic villi sampling (CVS), and Cordocentesis (FBS) are vital in perinatal care.
- Accurate diagnosis enables timely intervention and management of inherited disorders.
Purpose of the Study:
- To evaluate the effectiveness of common prenatal diagnostic methods.
- To determine the incidence of chromosomal abnormalities and inherited disorders in a specific patient cohort.
- To assess the safety and fetal loss rate associated with these procedures.
Main Methods:
- Utilized Amniocentesis (AMC), Chorionic villi sampling (CVS), and Cordocentesis (FBS) for prenatal diagnosis.
- Conducted DNA analysis and biochemical examination of amniotic fluid for inherited disorders.
- Analyzed data from 3,098 patients undergoing prenatal diagnostic procedures.
Main Results:
- Chromosomal abnormalities were detected in 1.4% of 3,098 fetuses.
- X-linked diseases were diagnosed in 30.8% of 68 tested fetuses.
- Inborn errors of metabolism were identified in 17.2% of 29 indicated fetuses.
- The incidence of fetal loss before 28 weeks of gestation was 0.4%.
Conclusions:
- Prenatal diagnostic methods are effective in detecting a range of fetal abnormalities.
- These procedures offer valuable insights into genetic and metabolic conditions, aiding in patient management.
- The evaluated prenatal diagnostic techniques demonstrate a low risk of fetal loss, supporting their clinical utility.