Down's syndrome screening at 11-14 weeks' gestation using prenasal thickness and nasal bone length

Gwendolin Manegold-Brauer, Ron Maymon, Shimrit Shor, Howard Cuckle, Ulrich Gembruch, Annegret Geipel
Archives of Gynecology and Obstetrics 2019, 299 (4): 939-945

PURPOSE: To perform a multicenter prospective study of ultrasound prenasal thickness (PT), and nasal bone length (NBL) measurement at 11-14 weeks' gestation.

METHODS: Ultrasound PT and NBL determination was performed in 504 normal fetuses and 17 fetuses with Down's syndrome (DS). Measurements were made from mid-sagittal 2D images acquired using a standardized technique during nuchal translucency (NT) examination. PT and NBL values were expressed in multiples of the gestation-specific normal median (MoM) and as the PT/NBL ratio. Information on PT and NBL MoMs was also combined using logistic regression. Results were classified as positive according to whether they were greater than the normal 95th centile for PT, PT/NBL and the DS risk from logistic regression equation or below the 5th centile for NBL.

RESULTS: The median value in DS cases and unaffected controls were: PT 1.26 and 0.996 MoM; and NBL 0.596 and 0.993 MoM. The proportion of DS fetuses with positive results was 41% for PT, 65% for NBL, and 82% for both the PT/NBL ratio and DS risk from the logistic regression equation. PT/NBL levels did not vary according to gestational age.

CONCLUSION: The PT/NBL ratio is a valuable first trimester DS screening marker that can be easily determined concomitant with the NT measurement.

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