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Early genetic amniocentesis--4 years' experience
Prenatal Diagnosis
|January 1, 1993
Summary
Early amniocentesis (EAC) is a reliable prenatal diagnostic procedure with high success rates and excellent banding quality. It effectively detects chromosome aberrations, comparable to routine amniocentesis.
Area of Science:
- Prenatal Diagnosis
- Cytogenetics
- Fetal Medicine
Background:
- Routine amniocentesis is typically performed later in gestation.
- Early amniocentesis offers potential for earlier prenatal diagnosis.
Purpose of the Study:
- To compare the efficacy and results of early amniocentesis (EAC) with routine amniocentesis (RAC).
- To evaluate success rates, growth parameters, and cytogenetic findings of EAC.
Main Methods:
- Comparison of 430 EAC (10-14 weeks) with 300 RAC (15 weeks) and 733 RAC (16-18 weeks).
- Assessment of success rates, diagnostic turn-around time, and chromosome banding quality.
- Analysis of cytogenetic results, including mosaicism and chromosomal aberrations.
Main Results:
- EAC success rate was 99.8%, comparable to RAC (100%).
- Banding quality of EAC was high (500-550 bphs), superior to chorionic villus sampling.
- EAC showed a significant increase in single-cell numerical and structural aberrations compared to later RAC, but mosaicism was manageable.
Conclusions:
- Early amniocentesis is a reliable procedure for prenatal diagnosis of chromosomal abnormalities.
- EAC provides high-standard cytogenetic results, enabling timely diagnosis.
- Clinical issues related to mosaicism detected via EAC can be resolved with parallel cultures.