Springer Drahomira, Loucky Jaroslav, Tesner Pavel, Cutka David, Stejskal David, Gregor Vladimir, Zima Tomas
1 First Faculty of Medicine, Department of Medical Biochemistry and Laboratory Diagnostics, Charles University, Prague, Czech Republic.
2 Prediko Centre for Foetal Medicine, Zlin, Czech Republic Second Faculty of Medicine, Department of Clinical Biochemistry and Pathology, Charles University, Prague, Czech Republic.
J Med Screen. 2018 Sep;25(3):114-118. doi: 10.1177/0969141317752533. Epub 2018 Mar 25.
In the Czech Republic, over 97% of all pregnant women undergo some type of antenatal screening for Down's syndrome. In about 95% of cases with a confirmed fetal chromosomal abnormality, the pregnancy is terminated. The most commonly used test is the first trimester combined test. We investigated the impact of implementing an integrated sequential test to improve the detection of Down's syndrome pregnancies.
Data on the incidence of congenital defects, number of births, and affected pregnancies terminated are recorded in the National Registry of Congenital Anomalies. Anonymous data on cases of Down's syndrome diagnosed antenatally or postnatally between 2010 and 2015 in one of the large antenatal care centers were analyzed.
There were 600 diagnoses of Down's syndrome (5.7 per 1000 births), 90% of which were made antenatally. Of antenatally detected cases, 80% were indicated for diagnostic procedure by multimarker screening results. In the multimarker screen positive group, 75% cases were first trimester positive and 25% second trimester positive (most of these had positive integrated test results). Among Down's syndrome cases indicated for antenatal diagnosis by multimarker screening results 6.25% (n = 26) were first trimester negative, and became positive after integration with the second trimester screening results.
Results from five major Czech antenatal centers confirm that an integrated sequential test would detect 80-85% of Down's syndrome fetuses in the first trimester and at least an extra 5-10% of Down's syndrome pregnancies in the second trimester of pregnancy. These are important data that should be considered in implementing the national antenatal screening program.
在捷克共和国，超过97%的孕妇会接受某种类型的唐氏综合征产前筛查。在约95%确诊胎儿染色体异常的病例中，妊娠会终止。最常用的检测方法是孕早期联合检测。我们研究了实施整合序贯检测对改善唐氏综合征妊娠检测的影响。
先天性缺陷发病率、出生数和终止妊娠的受累妊娠数的数据记录在国家先天性异常登记处。对2010年至2015年期间在一家大型产前护理中心之一产前或产后诊断的唐氏综合征病例的匿名数据进行了分析。
共诊断出600例唐氏综合征（每1000例出生中有5.7例），其中90%是产前诊断的。在产前检测出的病例中，80%根据多标记物筛查结果被建议进行诊断程序。在多标记物筛查阳性组中，75%的病例在孕早期呈阳性，25%在孕中期呈阳性（其中大多数综合检测结果为阳性）。在根据多标记物筛查结果被建议进行产前诊断的唐氏综合征病例中，6.25%（n = 26）在孕早期呈阴性，与孕中期筛查结果整合后变为阳性。
来自捷克五个主要产前中心的结果证实，整合序贯检测在孕早期可检测出80 - 85%的唐氏综合征胎儿，在孕中期至少还能额外检测出5 - 10%的唐氏综合征妊娠。这些重要数据在实施国家产前筛查计划时应予以考虑。
