Is 3D technique superior to 2D in Down syndrome screening? Evaluation of six second and third trimester fetal profile markers

@article{Vos2015Is3T,
  title={Is 3D technique superior to 2D in Down syndrome screening? Evaluation of six second and third trimester fetal profile markers},
  author={Fedia Vos and Merel Bakker and E. A. P. Jong‐Pleij and Lucia S. M. Ribbert and E. A. M. Tromp and Caterina M. Bilardo},
  journal={Prenatal Diagnosis},
  year={2015},
  volume={35},
  pages={207 - 213}
}
OBJECTIVE The objective of this article is to investigate whether in the clinical setting of second trimester ultrasound (US) investigations, 3D multiplanar correction prior to the measurement of Down syndrome (DS) facial markers (nasal bone length, prenasal thickness, fetal profile line, maxilla-nasion-mandible angle, prenasal thickness to nasal bone length ratio, and prefrontal space ratio) is superior to subjective judgment of a correct midsagittal plane by 2D technique. [] Key MethodMETHODS…
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Fetal facial profile markers of Down syndrome in the second and third trimesters of pregnancy
To investigate the use of the maxilla–nasion–mandible (MNM) angle and fetal profile (FP) line to assess the degree of midfacial hypoplasia in Down‐syndrome fetuses in the second and third trimesters…
The facial profile of Down syndrome fetuses in the second and third trimester of pregnancy
TLDR
A small MNM angle and a positive FP line can be regarded as novel markers for DS, not requiring knowledge of reference values and the potential to differentiate between DS and trisomy 18, as in the latter the FP line is often negative.
Assessment of Midfacial Hypoplasia in Down Syndrome Fetuses - Validity of a Two-Line Approach and Introduction of a Novel Angle (Maxilla-Mandible-Nasion Angle).
TLDR
Calculation of the novel MMN angle in 2( second) trimester fetuses reliably allows rapid assessment of craniofacial anatomy in order to rule out the midfacial hypoplasia frequently found in trisomy 21.
Trends in Serial Measurements of Ultrasound Markers in Second and Third Trimester Down Syndrome Fetuses
TLDR
The PT-NBL ratio is the most constant DS marker throughout gestation, following a predictable trend.
Maxilla–nasion–mandible (MNM) angle: an indicator to assess fetal facial profile in first-trimester of pregnancy
TLDR
The feasibility and reproducibility of measuring MNM in early pregnancy were good, and MNM had certain suggestive roles for aneusomic chromosomal abnormalities, especially for fetuses with trisomy 18.
Utility of fetal facial markers on a second trimester genetic sonogram in screening for Down syndrome in a high-risk Thai population
TLDR
These facial ultrasound markers were easily identifiable and highly consistent either intra- or inter-operator by using widely-available 2D ultrasound and had 100% negative predictive value for Down syndrome screening in the second trimester.
Anomalies of the Fetal Face
  • E. Merz, S. Pashaj
  • Medicine
    Donald School Journal of Ultrasound in Obstetrics and Gynecology
  • 2019
TLDR
3D ultrasonography enables a detailed demonstration of the soft tissue of the fetal face and thus contributes to a better understanding of the malformation by both the physician and the future parents.

References

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TLDR
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A small MNM angle and a positive FP line can be regarded as novel markers for DS, not requiring knowledge of reference values and the potential to differentiate between DS and trisomy 18, as in the latter the FP line is often negative.
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