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Updated: Apr 23, 2026
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Sensitivity of multiple first trimester sonomarkers in fetal aneuploidy detection
Background:
Multiple first trimester aneuploidy sonomarkers have been introduced recently.
Objective:
To evaluate the efficacy of first trimester sonomarkers in fetal aneuploidy detection without serum markers.
Methods:
There were entirely 280 fetuses with 11-13+6 weeks' gestation (crown-rump -length between 45-84 mm) enrolled to assess nuchal translucency thickness (NT), nasal bone (NB), tricuspid regurgitation (TR) and ductus venosus (DV) flow. The performance of each single marker and multiple markers for major fetal aneuploidy screening were determined.
Results:
Totally, 190 fetuses (67.85%) underwent invasive prenatal diagnosis with 14 major chromosome abnormalities identified including 4 cases of trisomy 21, 4 cases of trisomy 18, 3 cases of trisomy 13 and 3 cases of 45, XO. NT was the most accurate single marker with sensitivity of 71.43% and false-positive rate (FPR) of 4.14% while NB or TR was the most specific marker (99.6%) but lacked sensitivity. Among multiple first trimester-screening sonomarkers, NT plus TR evaluation were the most sensitive test (78.57%) with FPR of 4.76%.
Conclusion:
NT was the most accurate first trimester-screening marker for fetal aneuploidy. NT plus TR assessment as double-screening markers could improve the sensitivity by 7% leading to the lower number of unnecessary invasive prenatal diagnosis.
