J Korean Med Sci.  2001 Jun;16(3):290-293. 10.3346/jkms.2001.16.3.290.

Frequencies of Fetal Chromosomal Abnormalities at Prenatal Diagnosis: 10 years experiences in a single institution

• Park SY
• Kim JW
• Kim YM
• Kim JM
• Lee MH
• Lee BY
• Han JY
• Kim MY
• Yang JH
• Ryu HM

• KMID: 1129899
• DOI: http://doi.org/10.3346/jkms.2001.16.3.290

Abstract

We present frequencies of fetal chromosomal abnormalities in 4,907 prenatal cytogenetic examinations at Samsung Cheil Hospital from 1988 to 1997 for 10 yr duration. Prenatal karyotypes were undertaken in 3,913 amniotic fluid samples, 800 chorionic villi samples, and 194 percutaneous umbilical blood samples. The frequency of fetal abnormal karyotypes was 3.1% (150 cases). Numerical chromosome abnormalities were 87 cases (1.8%) and structural aberrations of chromosomes were 63 cases (1.3%). In the numerical chromosomal abnormalities, the frequency of trisomy 21 was by far the highest (36 cases), followed by trisomy 18 in 22 cases and sex chromosome aneuploidies in 19 cases. In the structural chromosomal aberrations, 5 cases had the inversions in chromosome 2, 7, 17, and Y. Chromosomal deletions in 6 cases and additions in 4 cases were analysed. Of the remaining 47 translocation in abnormal fetuses, reciprocal translocation was in 26 cases and Robertsonian translocation in 21 cases. Among them, 41 cases were balanced translocation and 6 were unbalanced. Thirty five cases of translocation were inherited from one of the parents. Four had de novo chromosome rearrangements, and 8 cases were unknown.

Keyword

Chromosome Abnormalities; Prenatal Diagnosis; Cytogenetics

MeSH Terms

Chromosome Abnormalities/classification/*diagnosis
Female
Human
Institutionalization
Inversion (Genetics)
Karyotyping
Life Change Events
Pregnancy
Prenatal Diagnosis/*trends
Retrospective Studies
Translocation (Genetics)