Prenatal diagnosis: general introduction, methodology, and review

Area of Science:

• Medical Genetics
• Hematology
• Prenatal Diagnostics

Background:

• Over 10,000 prenatal diagnoses of hematologic diseases have been performed since 1974.
• Thalassemia has been the primary focus for fetal testing.

Purpose of the Study:

• To review the evolution and current status of prenatal diagnostic methods for hematologic diseases.
• To highlight the shift from fetal blood sampling to DNA-based technologies.

Main Methods:

• Initial methods involved fetal blood sampling analyzed by chromatography and electrophoresis.
• Current DNA-based methods include chorionic villus sampling (CVS), gene amplification, and specific DNA analyses.
• DNA testing identifies gene deletions, mutations affecting restriction sites, and polymorphisms.

Main Results:

• The trend is towards earlier sampling using CVS and advanced DNA analysis.
• Method safety exceeds 96%, with accuracy rates above 99% for both blood and DNA methods.
• These diagnostic approaches have demonstrated high acceptability.

Conclusions:

• DNA technology, especially with CVS, represents the current standard for prenatal diagnosis of hematologic disorders.
• The transition to DNA-based methods ensures early, safe, and highly accurate fetal diagnoses.
• High accuracy and safety contribute to the widespread acceptance of these prenatal testing strategies.