The Korean collaborative study on 11,000 prenatal genetic amniocentesis.

Area of Science:

• Obstetrics and Gynecology
• Medical Genetics
• Prenatal Diagnosis

Background:

• Amniocentesis, established in 1967, is a key prenatal diagnostic method.
• Its application in Korea has evolved significantly over time.
• Initial use was concentrated in advanced maternal age groups.

Purpose of the Study:

• To analyze trends in amniocentesis utilization in Korea from 1980 to 1997.
• To identify the changing indications for amniocentesis.
• To report the diagnostic yield of chromosomal anomalies.

Main Methods:

• Retrospective analysis of 11,000 amniocentesis procedures.
• Data collected from 10 Korean university hospitals and tertiary centers (1980-1997).
• Categorization of indications including maternal age, abnormal serum markers, and ultrasonographic findings.

Main Results:

• Amniocentesis use increased steadily, with a sharp rise in the mid-1990s.
• Indications shifted from advanced maternal age to abnormal serum markers (37.6% in 1995 to 44.8% in 1997).
• Chromosomal anomalies were detected in 2.5% of cases (270/11,000), including Down syndrome (96), Edward syndrome (33), Patau syndrome (6), Turner syndrome (10), and Klinefelter syndrome (10).
• Abnormal ultrasonographic findings led to chromosomal anomaly detection in 6.5% of cases (21/322).

Conclusions:

• Amniocentesis use in Korea has increased substantially, driven by new screening technologies.
• The diagnostic scope has broadened beyond maternal age to encompass biochemical and ultrasound markers.
• Genetic amniocentesis remains crucial for diagnosing chromosomal abnormalities in fetuses.