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Frequencies of Fetal Chromosomal Abnormalities at Prenatal Diagnosis: 10 years experiences in a single institution
Journal of Korean Medical Science ; : 290-293, 2001.
Article Dans Anglais | WPRIM | ID: wpr-62734
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.
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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Diagnostic prénatal / Translocation génétique / Études rétrospectives / Aberrations des chromosomes / Institutionnalisation / Inversion chromosomique / Caryotypage / Événements de vie Type d'étude: Etude diagnostique / Étude observationnelle Limites du sujet: Femelle / Humains / Grossesse langue: Anglais Texte intégral: Journal of Korean Medical Science Année: 2001 Type: Article

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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Diagnostic prénatal / Translocation génétique / Études rétrospectives / Aberrations des chromosomes / Institutionnalisation / Inversion chromosomique / Caryotypage / Événements de vie Type d'étude: Etude diagnostique / Étude observationnelle Limites du sujet: Femelle / Humains / Grossesse langue: Anglais Texte intégral: Journal of Korean Medical Science Année: 2001 Type: Article