Gregor V, Sípek A, Chudobová M
Institut postgraduálního vzdĕlávání ve zdravotnictví, Subkatedra lékarské genetiky, Praha.
Ceska Gynekol. 2000 Nov;65(6):387-92.
Presentation of prenatal diagnostics results in the year 1998 and their comparison with the period 1990-1997.
A retrospective study.
Subchair of Medical Genetics, Postgraduate Medical Institute, Vídenská 800, Praha 4, Czech Republic.
Processing of prenatal diagnostics data obtained from departments of Medical Genetics from all the Czech Republic. The comparison with livebirths with congenital malformation was made possible using the data from Statistics Reports "Congenital malformation in a foetus/newborn" which are filed in the Institute of Health Information and Statistics. For a comparison on the international level the data published by the International Clearinghouse for Birth Defects Monitoring Systems were used.
553 foetuses with congenital malformation were diagnosed in 1998. In the same year, 406 pregnancies were terminated from this reason. Totally, 445 particular malformations were found in the above mentioned foetuses. Most often, inborn chromosomal aberrations (and Down Syndrome especially) were detected. Down Syndrome itself was diagnosed in 101 cases, out of which in 98 cases the pregnancy was terminated. Taking into account 61 cases of Down Syndrome in livebirths in 1998, the sensitivity of prenatal diagnostics of this defect is 61.64%. Finally, a comparison of our results with data from different congenital malformation registers all over the world was made.
An increase of the prenatal diagnostics of congenital malformation as well as its improvement has taken place in the Czech Republic in last years. This improvement is accompanied by an increase of the number of prenatally diagnosed cases and also by an increase of the number of terminated pregnancies as its consequence. An incidence of severe congenital malformations therefore decreases in livebirths. An efficiency of prenatal diagnostics is fully comparable to the results published by major congenital malformation registers worldwide.
呈现1998年产前诊断结果，并与1990 - 1997年期间进行比较。
一项回顾性研究。
捷克共和国布拉格4区维德恩斯卡800号研究生医学院医学遗传学副教研室。
处理从捷克共和国所有医学遗传学部门获得的产前诊断数据。通过使用卫生信息与统计研究所存档的“胎儿/新生儿先天性畸形”统计报告中的数据，能够将其与先天性畸形活产儿进行比较。为了进行国际层面的比较，使用了国际出生缺陷监测系统信息交换所公布的数据。
1998年诊断出553例先天性畸形胎儿。同年，因该原因终止了406例妊娠。在上述胎儿中总共发现了445种特定畸形。最常检测到的是先天性染色体畸变（尤其是唐氏综合征）。1998年确诊了101例唐氏综合征，其中98例妊娠被终止。考虑到1998年活产儿中有61例唐氏综合征，该缺陷产前诊断的敏感性为61.64%。最后，将我们的结果与世界各地不同先天性畸形登记处的数据进行了比较。
近年来，捷克共和国先天性畸形的产前诊断有所增加且有所改善。这种改善伴随着产前诊断病例数的增加，以及随之而来的终止妊娠数的增加。因此，活产儿中严重先天性畸形的发生率降低。产前诊断的效率与全球主要先天性畸形登记处公布的结果完全可比。
