Klinefelter Syndrome Diagnosed by Prenatal Screening Tests in High-Risk Groups
Korean Journal of Urology
;
: 263-265, 2013.
Article
Dans Anglais
| WPRIM
| ID: wpr-187103
ABSTRACT
PURPOSE:
Klinefelter syndrome is a chromosomal disorder present in 1 out of 400 to 1,000 male newborns in Western populations. Two-thirds of affected newborns show a karyotype of 47,XXY. Few studies have examined the incidence of Klinefelter syndrome in Korea. The aim of this study was to investigate the incidence of Klinefelter syndrome by use of prenatal screening tests. MATERIALS ANDMETHODS:
From January 2001 to December 2010, 18,049 pregnant women who had undergone a chromosomal study for fetal anomalies were included. For fetuses that were diagnosed as having Klinefelter syndrome, the patients' medical records were retrospectively reviewed. Both parents' ages, the reason for the chromosomal studies, and karyotypes were investigated.RESULTS:
We found that 22 of 18,049 (0.12%) fetuses were diagnosed with Klinefelter syndrome. The incidence of this disorder in male fetuses was 22 of 9,387 (0.23%). Also, 19 of the newborns (86.4%) showed a karyotype of 47,XXY; the other newborns showed karyotypes of 48,XXY,+21; 48,XXY,+12[12]/46,XY[54]; and 47,XXY[6]/45,X[1]/46,XY[95]. The mean age of the mothers was 36.1 years, and 2 women had a past history of a Down syndrome pregnancy. Nine mothers had a normal spontaneous delivery, 9 mothers underwent artificial abortion, and 2 fetuses were spontaneously aborted.CONCLUSIONS:
The incidence of Klinefelter syndrome as reported in this study is higher than in previous studies. Further studies with a broader population should be considered to confirm these results.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Diagnostic prénatal
/
Dossiers médicaux
/
Incidence
/
Études rétrospectives
/
Syndrome de Down
/
Maladies chromosomiques
/
Femmes enceintes
/
Foetus
/
Caryotype
/
Infertilité masculine
Type d'étude:
Etude diagnostique
/
Etude d'étiologie
/
Etude d'incidence
/
Étude observationnelle
/
Étude pronostique
/
Facteurs de risque
/
Étude de dépistage
Limites du sujet:
Femelle
/
Humains
/
Mâle
/
Nouveau-né
/
Grossesse
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Korean Journal of Urology
Année:
2013
Type:
Article
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