Iranian Fetal Medicine Foundation, Hope Generation Foundation, Tehran, Iran.
Ultrasound Obstet Gynecol. 2012 May;39(5):528-34. doi: 10.1002/uog.10051.
To investigate the performance of first-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency thickness (NT), nasal bone (NB), tricuspid regurgitation (TR) and ductus venosus (DV) flow combined with maternal serum free β-human chorionic gonadotropin (fβ-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at a one-stop clinic for assessment of risk (OSCAR).
In total, 13,706 fetuses in 13,437 pregnancies were screened for chromosomal abnormalities during a period of 5 years. Maternal serum biochemical markers and maternal age were evaluated in combination with NT, NT + NB, NT + NB + TR, and NT + NB + TR + DV flow data in 8581, 242, 236 and 4647 fetuses, respectively.
In total, 51 chromosomal abnormalities were identified in the study population, including 33 cases of trisomy 21, eight of trisomy 18, six of sex chromosome abnormality, one of triploidy and three of other unbalanced abnormalities. The detection rate and false-positive rate (FPR) for trisomy 21 were 93.8% and 4.84%, respectively, using biochemical markers and NT, and 100% and 3.4%, respectively, using biochemical markers, NT, NB, TR and DV flow.
While risk assessment using combined biochemical markers and NT measurement has an acceptable screening performance, it can be improved by the integrated evaluation of secondary ultrasound markers of NB, TR and DV flow. This enhanced approach would decrease the FPR from 4.8 % to 3.4 %, leading to a lower number of unnecessary invasive diagnostic tests and subsequent complications, while maintaining the maximum level of detection rate. Pre- and post-test genetic counseling is of paramount importance in either approach.
探讨在一站式评估风险（OSCAR）门诊中，联合应用颈项透明层（NT）、鼻骨（NB）、三尖瓣反流（TR）和静脉导管（DV）血流，结合母体血清游离β-人绒毛膜促性腺激素（fβ-hCG）和妊娠相关血浆蛋白-A（PAPP-A），对染色体异常进行早孕期筛查的效能。
在 5 年期间，对 13437 例妊娠的 13706 例胎儿进行了染色体异常筛查。在 8581、242、236 和 4647 例胎儿中，分别结合 NT、NT+NB、NT+NB+TR 和 NT+NB+TR+DV 血流数据，对母体血清生化标志物和年龄进行评估。
在研究人群中，共发现 51 例染色体异常，包括 33 例 21 三体、8 例 18 三体、6 例性染色体异常、1 例三倍体和 3 例其他非平衡异常。使用生化标志物和 NT 检测 21 三体的检出率和假阳性率（FPR）分别为 93.8%和 4.84%，而使用生化标志物、NT、NB、TR 和 DV 血流联合检测的检出率和 FPR 分别为 100%和 3.4%。
虽然使用联合生化标志物和 NT 测量进行风险评估具有可接受的筛查效能，但通过对 NB、TR 和 DV 血流等二级超声标志物的综合评估，可以进一步提高其效能。这种改进的方法可以将 FPR 从 4.8%降至 3.4%，从而减少不必要的有创性诊断检测及其后续并发症的发生，同时保持最高的检出率。在任何一种方法中，产前和产后遗传咨询都至关重要。
