Frequencies of Fetal Chromosomal Abnormalities at Prenatal Diagnosis: 10 years experiences in a single institution.
10.3346/jkms.2001.16.3.290
- Author:
So Yeon PARK
1
;
Jin Woo KIM
;
Young Mi KIM
;
Jin Mee KIM
;
Moon Hee LEE
;
Bom Yi LEE
;
Jung Yeol HAN
;
Moon Young KIM
;
Jae Hyug YANG
;
Hyun Mee RYU
Author Information
1. Laboratory of Medical Genetics, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University, School of Medicine, Seoul, Korea. ryu97@samsung.co.kr
- Publication Type:Original Article
- Keywords:
Chromosome Abnormalities;
Prenatal Diagnosis;
Cytogenetics
- MeSH:
Chromosome Abnormalities/classification/*diagnosis;
Female;
Human;
Institutionalization;
Inversion (Genetics);
Karyotyping;
Life Change Events;
Pregnancy;
Prenatal Diagnosis/*trends;
Retrospective Studies;
Translocation (Genetics)
- From:Journal of Korean Medical Science
2001;16(3):290-293
- CountryRepublic of Korea
- Language:English
-
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.
