Cytogenetic Analysis in 785 Cases of Midtrimester Amniocentesis Using In Situ Coverslip Culture / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
;
: 863-869, 2004.
Article
Dans Coréen
| WPRIM
| ID: wpr-99321
ABSTRACT
OBJECTIVE:
Amniocentesis is the most commonly used invasive method for prenatal diagnosis of genetic disorders. We performed this study to analyze the indications, distributions of maternal age and cytogenetic results of midtrimester amniocentesis.METHODS:
We retrospectively analyzed 785 cases of midtrimester prenatal genetic amniocentesis which were performed in the cytogenetics laboratory using in situ coverslip culture at Dong-A University Hospital from January 1995 to March 2003.RESULTS:
Amniocentesis was practiced mostly from 15 weeks to 20 weeks of gestational ages. Requested indications of amniocentesis were abnormal maternal serum screening (421, 53.7%), advanced maternal age (233, 29.7%) and abnormal ultrasonographic finding (61, 7.8%) in the order of decrease. The overall incidence of chromosome abnormalities was 5.1% (40 cases), and it contains 27 cases (3.4%) of numerical abnormalities and 13 cases (1.7%) of structural abnormalities. Among autosomal abnormalities Down syndrome was most common (13 cases) and followed by Edward syndrome (2 cases). Of the sex chromosomal abnormalities, three cases of Turner syndrome and three cases of Kleinefelter syndrome were found. Chromosomal abnormalities were most frequently noted in the maternal age of 30 to 34 years old (14 cases, 35.0%), 25 to 29 years old (12 cases, 30.0%), followed by 35 to 39 years old (7 cases, 17.5%). The frequency of pseudomosaicism were 5 cases (0.6%).CONCLUSION:
Maternal serum screening, advanced maternal age and antenatal ultrasonographic finding must be important screening methods for amniocentesis which is considered to the most effective diagnostic procecdure for prenatal cytogenetic studies. I conclude that the karyotyping analysis of midtrimester amniocentesis is efficacious method for detection of chromosomal aberration and genetic counselling for parents.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Parents
/
Deuxième trimestre de grossesse
/
Diagnostic prénatal
/
Syndrome de Turner
/
Dépistage de masse
/
Incidence
/
Études rétrospectives
/
Aberrations des chromosomes
/
Âge gestationnel
/
Âge maternel
Type d'étude:
Etude diagnostique
/
Etude d'incidence
/
Étude observationnelle
/
Étude pronostique
/
Étude de dépistage
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Grossesse
langue:
Coréen
Texte intégral:
Korean Journal of Obstetrics and Gynecology
Année:
2004
Type:
Article
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