Veduta Alina, Vayna Ana Maria, Duta Simona, Panaitescu Anca, Popescu Florin, Bari Maria, Peltecu Gheorghe, Nedelea Florina
a Filantropia Clinical Hospital , Bucharest , Romania.
J Matern Fetal Neonatal Med. 2018 Aug;31(16):2091-2096. doi: 10.1080/14767058.2017.1336220. Epub 2017 Jun 14.
We present the results of the systematic application of the first trimester combined test for aneuploidies, in a Romanian center.
Since October 2009, in Filantropia Hospital in Bucharest, we have systematically been using the FMF (Fetal Medicine Foundation) combined first trimester test to screen for common aneuploidies at 11 to 13 + 6 weeks of gestation. We assessed the crown to rump length (CRL), nuchal translucency, fetal heart rate as well as PAPP-A, and free β-hCG in maternal serum. We evaluated additional first trimester ultrasound markers in most of the cases. The individual risk for aneuploidies was calculated using the FMF algorithm.
Pregnancy outcome is known for 6030 euploid fetuses and 42 aneuploid fetuses from our screening population. The detection rate for trisomy 21 of the combined test was 87.5% for a screen positive rate of 1.96%. All of the trisomy 18 and trisomy 13 cases were detected prenatally. Some of the trisomy 18 cases proved not to be symptomatic in the first trimester.
Our results are similar to those of the main studies on the FMF method of first trimester screening for aneuploidies. Our numbers are small because of limited availability of the very specialized resources involved.
我们呈现了罗马尼亚一家中心对孕早期非整倍体联合检测进行系统应用的结果。
自2009年10月起，在布加勒斯特的菲兰托皮亚医院，我们系统地使用胎儿医学基金会（FMF）的孕早期联合检测，在妊娠11至13⁺⁶周时筛查常见的非整倍体。我们评估了顶臀长（CRL）、颈部透明带、胎儿心率以及孕妇血清中的妊娠相关血浆蛋白A（PAPP - A）和游离β - 人绒毛膜促性腺激素（β - hCG）。在大多数病例中，我们还评估了孕早期的其他超声标志物。使用FMF算法计算非整倍体的个体风险。
我们筛查人群中6030例整倍体胎儿和42例非整倍体胎儿的妊娠结局已知。联合检测对21三体的检测率为87.5%，筛查阳性率为1.96%。所有18三体和13三体病例均在产前被检测出。部分18三体病例在孕早期未表现出症状。
我们的结果与关于FMF孕早期非整倍体筛查方法的主要研究结果相似。由于所涉及的非常专业的资源可用性有限，我们的样本数量较少。
