Sonographic detection of central nervous system defects in the first trimester of pregnancy

@article{Engels2016SonographicDO,
  title={Sonographic detection of central nervous system defects in the first trimester of pregnancy},
  author={Alexander C. Engels and Luc Joyeux and Casey Brantner and Bart De Keersmaecker and Luc de Catte and David Baud and Jan A Deprest and Tim van Mieghem},
  journal={Prenatal Diagnosis},
  year={2016},
  volume={36},
  pages={266 - 273}
}
The fetal central nervous system can already be examined in the first trimester of pregnancy. Acrania, alobar holoprosencephaly, cephaloceles, and spina bifida can confidently be diagnosed at that stage and should actively be looked for in every fetus undergoing first‐trimester ultrasound. For some other conditions, such as vermian anomalies and agenesis of the corpus callosum, markers have been identified, but the diagnosis can only be confirmed in the second trimester of gestation. For these… 
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First trimester BS/BSOB ratio has a high diagnostic accuracy in detecting fetuses with open spina bifida at first trimester ultrasound.
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References

SHOWING 1-10 OF 101 REFERENCES
Sonoembryology and early prenatal diagnosis of neural anomalies
TLDR
The early development of the central nervous system (CNS), as described by embryologists and anatomists in modern embryological textbooks, is compared with sonoanatomic descriptions from two‐dimensional and three‐dimensional ultrasound studies, week by week in the first trimester.
The early diagnosis of neural tube defects
TLDR
It is concluded that transvaginal sonographic examination of the fetal skull before the 17th week of gestation is an accurate method for the detection of low NTDs.
First and early second trimester diagnosis of anomalies of the central nervous system.
TLDR
Routine use of safe and noninvasive transvaginal ultrasonography early in pregnancy for patients at risk of central nervous system formation and pathologic cerebral development can be diagnosed already in the first trimester of pregnancy.
First‐Trimester Sonographic Diagnosis of Holoprosencephaly
  • W. Sepulveda, V. Dezerega, C. Be
  • Medicine
    Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
  • 2004
TLDR
Systematic identification of the butterfly sign at the time of sonographic assessment of nuchal translucency provides a valuable tool for the early screening of holoprosencephaly in the first trimester.
Abdominal ultrasound examination of the first-trimester fetus.
First trimester sonographic diagnosis of holoprosencephaly
First trimester diagnosis of holoprosencephaly with a Dandy‐Walker malformation by transvaginal ultrasonography.
TLDR
A singleton pregnancy is described in which holoprosencephaly associated with the Dandy-Walker malformation and a limb defect was diagnosed by transvaginal ultrasonography in the first trimester.
Prenatal screening and diagnosis of neural tube defects
TLDR
There are high rates of pregnancy termination for spina bifida in many European countries, but the use of new imagining techniques allow better prediction of outcome, and consequently a refinement of prenatal counselling.
Detecting open spina bifida at the 11–13‐week scan by assessing intracranial translucency and the posterior brain region: mid‐sagittal or axial plane?
  • R. Chaoui, K. Nicolaides
  • Medicine
    Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
  • 2011
TLDR
Assessment of the posterior brain area should be undertaken in the mid-sagittal or axial plane for diagnosis of open spina bifida using axial planes of the fetal head, as suggested by some studies.
Fetal intracranial anatomy in the first trimester of pregnancy: transvaginal ultrasonographic evaluation
TLDR
Data including measurements of crown rump length, bi-parietal diameter, head circumference, hemispheric width, lateral ventricle width, LVW/HW ratio, thalamus and cerebellum may be useful in determining deviations from the normal and in expanding the range of prenatal diagnoses of fetal structural abnormalities in early pregnancy.
...
1
2
3
4
5
...