Korean J Obstet Gynecol.  2001 Jun;44(6):1109-1114.

A Review of Prenatal Cytogenetic Analysis in 2942 Midtrimester Amniocentesis

• Kim HJ
• Lee SM
• Kim EJ
• Cho EN
• Park SY
• Kang KH
• Park SJ

Abstract

OBJECTIVES
To analyze 2942 cases of prenatal genetic amniocentesis with their cytogenetic results.
METHODS
This study reviewed 2942 genetic amniocentesis results which were perfomed at Ilsin Christian Hospital from 1993 to 1999, as prenatal genetic diagnosis for the possibility of chromosomal abnormality of fetus. Age distribution, gestational weeks, indications of amniocentesis and cytogenetic results were the key factors for the analysis.
RESULTS
Maternal ages were ranged from 20 to 45, mostly 25-39. Of indications of prenatal genetic amniocentesis, abnormal maternal serum marker was the most common(57.9%) and followed by advanced maternal age(29.3%). The frequency of abnormal karyotypes was 3.1%(90/2942). Down syndrome(trisomy 21) and inversion of chromosome were found at 0.8%(24/2942) and 1.0%(30/2942). The incidence of abnormal karyotype according to indication had statistical significance in family history and abnormal ultrasonographic findings.(p<0.001)
CONCLUSIONS
Midtrimester genetic amniocentesis is an important diagnostic tool in prenatal genetic diagnosis. In addition to the maternal serum markers and maternal ages, complete family history takings and ultrasonograms should be considered in prenatal genetic counseling.

Keyword

Genetic amniocentesis; Chromosomal abnormality; Midtrimester; Prenatal diagnosis

MeSH Terms

Abnormal Karyotype
Age Distribution
Amniocentesis*
Biomarkers
Chromosome Aberrations
Cytogenetic Analysis*
Cytogenetics*
Diagnosis
Female
Fetus
Genetic Counseling
Humans
Incidence
Maternal Age
Pregnancy
Pregnancy Trimester, Second*
Prenatal Diagnosis
Ultrasonography