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Down's syndrome screening at 11-14 weeks' gestation using prenasal thickness and nasal bone length
Gwendolin Manegold-Brauer1, Ron Maymon2, Shimrit Shor2
1Department of Prenatal Medicine and Gynecologic Ultrasound, University of Basel, Women's Hospital, Spitalstrasse 21, 4031, Basel, Switzerland. gwendolin.manegold-brauer@usb.ch.
Archives of Gynecology and Obstetrics
|February 11, 2019
Summary
The prenasal thickness to nasal bone length ratio is a valuable first-trimester screening marker for Down
Area of Science:
- Prenatal diagnosis
- Medical imaging
- Genetics
Background:
- Down syndrome (DS) screening is crucial in early pregnancy.
- Ultrasound markers like nuchal translucency (NT) are established.
- Further refinement of first-trimester screening is beneficial.
Purpose of the Study:
- To evaluate ultrasound prenasal thickness (PT) and nasal bone length (NBL) measurements.
- To assess their utility as screening markers for Down syndrome (DS) at 11-14 weeks' gestation.
Main Methods:
- A multicenter prospective study involving 504 normal fetuses and 17 with DS.
- Standardized 2D ultrasound measurements of PT and NBL.
- Analysis of PT and NBL in multiples of the median (MoM), PT/NBL ratio, and logistic regression for DS risk.
Main Results:
- Down syndrome fetuses showed significantly different median values for PT (1.26 MoM) and NBL (0.596 MoM) compared to controls.
- The PT/NBL ratio and logistic regression model achieved the highest detection rates (82%) for DS.
- NBL measurement alone detected 65% of DS cases.
Conclusions:
- The PT/NBL ratio is an effective first-trimester screening marker for Down syndrome.
- This marker can be easily integrated with NT measurements during routine ultrasound examinations.