OBJECTIVE: To examine the performance of first-trimester ultrasound screening for trisomies 18 and 13, @entity8338 based on fetal nuchal translucency thickness (NT), additional fetal ultrasound markers including anatomy of the nasal bone (NB), blood flow across the tricuspid valve (TV) and through the ductus venosus (DV) and a @entity2241 scan at 11-13 weeks' gestation. METHODS: This was a retrospective case-matched study involving pregnant @entity1 at 11-13 weeks' gestation. The study population consisted of fetuses with trisomy 18, @entity22174 , @entity8338 . For each fetus with an abnormal karyotype, 50 randomly selected euploid fetuses were added to the study population. In all cases, the crown-rump length and NT were measured. In addition NB, TV flow and DV flow were examined. The summed risk for trisomies 21, 18 and 13 was computed based on: first, @entity7310 ( @entity7310 ); second, @entity7310 and fetal NT; third, @entity7310 , NT and one of the markers NB, TV flow or DV flow; fourth, @entity7310 , NT and all these markers combined; fifth, @entity7310 , NT and @entity2241 ; and, finally, @entity7310 , NT, all markers and @entity2241 . RESULTS: The study population consisted of 4550 euploid and 91 aneuploid fetuses. Median NT was 1.8   mm in euploid fetuses and 4.8, 6.8, 1.8 and 10.0   mm in fetuses with trisomy 18, @entity22174 , @entity8338 , respectively. The NB, TV flow and DV flow were abnormal in 48 (1.1%), 34 (0.7%) and 99 (2.2%) euploid fetuses, respectively, and in 42 (46.2%), 31 (34.1%) and 62 (68.1%) aneuploid fetuses, respectively. At least one defect was found in 60 (1.3%) euploid and in 76 (83.5%) aneuploid fetuses. For a false-positive rate of 3%, the detection rate for screening based on @entity7310 and fetal NT was 75.8%. It increased to 84.6-86.8% when including one of the additional ultrasound markers and it was 90.1% when all three markers were included. When screening was based on @entity7310 , fetal NT and a @entity154 scan, the detection rate was 94.5% and increased to 95.6% with the addition of NB, TV flow and DV flow. CONCLUSION: @entity154 scan at 11-13 weeks' gestation can identify about 95% of fetuses with trisomy 18, @entity22174 , @entity8338 . Copyright    2015 ISUOG. Published by John Wiley _ Sons Ltd.

First-trimester screening for trisomies 18 and 13, XXXX by @entity154 scan.

@entity1 :: ('9606', 'Species') :: ['women'] @entity154 :: ('MESH:D000013', 'Disease') :: ['A detailed anomaly', 'detailed anomaly'] @entity8338 :: ('MESH:D057885', 'Disease') :: ['triploidy and Turner syndrome', 'triploidy or Turner syndrome'] @entity7310 :: ('MESH:C536469', 'Disease') :: ['MA', 'maternal age'] @entity22174 :: ('MESH:C536305', 'Disease') :: ['trisomy 13'] @entity2241 :: ('MESH:D005315', 'Disease') :: ['fetal anomalies', 'detailed fetal anomaly']
@entity8338 :: (MESH:D057885,Disease) :: ['triploidy and Turner syndrome']
