연세의료원 세브란스병원산부인과에서 분만되고 진단이 확인되었던 12명의 다운증후군 환아 및 부모를 대상으로 산과적 및 세포유전학적 분석을 시행하였다. 12명 모두 분만후에 진단 됨으로써 적절한 산전진단의 필요성이 제기되었다. 향후 세포유전학적 검사의 적응증이 되 는 고위험군 산모에서 융모막 융모채취법이나 양수천자의 시행은 물론 저위험군의 산모에서 도 임신 중기에 모체혈청 alpha fetoprotein치의 측정과 초음파 생체계측소견을 이용한 선별 검사를 시행하여 산전세포유전학적 검사를 보다 많이 시행할 수 있게 유도함으로써 궁극적 으로 다운증후군의 발생빈도를 감소시킬수 있다고 사료된다.

down`s syndrome is the commonest chromosomal abnormality encounted in an ostetric pratice. between 1980 and 1987, twelve infant with down`s syndrome were confirmed among 15800 delivery at the Department of Obsterics and Gyunecology, Yonsei University Medical Center, The rate of down`s syndrome was 0.759 per 1000 livebirths and the odds was 1:1317. the maternal age ranged from 22 to 37 years and the mean was 29.2 years, while the paternal age ranged from 27 to 48 years with a mean of 33.3 years. Six patients (50%) received prenatal care at Severance Hospital and three of them registered in the obstetric clinic before the 20th week of gestation . There was no case in which prenatal diagnosis could be made but three had indication for prenatal cytogenetic analysis. The most frequency obstetric complications was intrauterine growth retardation which prenatal diagnosis could be made buyt three had indication for prenatal cytogenetic anlaysis. The most frequency obstetric complications was intrauterine growth retardation which was found in four patients . Among the ten karyotypes that were done nine exhibited triosomy 21and one showed translocation which wa inherited from the mother. In conclutsion although genetic amniocentesis infants are born to women under the age 35 who have insufficient risk to warrant genetic amniocentesis . In order to increase the detection rate down`s syndrome prenatally, we feel that it would be very useful to screen the normal low risk obstetric population by using maternal serum alpha fetoprotein and reliable ultrasonography sings in the second trimester.