Moving forward: early diagnosis of fetal spinal defects

Moving prenatal diagnosis and screening to earlier stages of pregnancy has probably been the most important progress in the field of Fetal Medicine in the recent years. Screening for chromosomal abnormalities is the most obvious example; the sensitivity of screening for Down syndrome by maternal age only (1980 s – early 1990 s) was only 30%, which rose to 60% by second-trimester biochemical tests (late 1980 s – early 1990 s) and is nowadays as high as 95% with the implementation of first-trimester screening with ultrasound and biochemical markers [1].

• References

• 1 Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound in obstetrics & gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2013; 42: 15-33
• 2 Syngelaki A, Chelemen T, Dagklis T et al. Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11–13 weeks. Prenatal diagnosis 2011; 31: 90-102
• 3 Chaoui R, Benoit B, Mitkowska-Wozniak H et al. Assessment of intracranial translucency (IT) in the detection of spina bifida at the 11-13-week scan. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2009; 34: 249-252
• 4 Chaoui R, Benoit B, Heling KS et al. Prospective detection of open spina bifida at 11–13 weeks by assessing intracranial translucency and posterior brain. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2011; 38: 722-726
• 5 Karl K, Heling KS, Chaoui R. Fluid area measurements in the posterior fossa at 11–13 weeks in normal fetuses and fetuses with open spina bifida. Fetal diagnosis and therapy 2015; 37: 289-293
• 6 Eleftheriades M, Grigoriadis C, Sotiriadis A et al. Intracranial translucency and spinal cord defects: early prenatal diagnosis of diastematomyelia. Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 2013; 32: 1676-1677
• 7 Volpe P, Contro E, Fanelli T et al. Appearance of the fetal posterior fossa at 11–14 weeks in foetuses with Dandy-Walker complex or chromosomal anomalies. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2015; DOI: 10.1002/uog.14883.
• 8 Tonni G, Grisolia G. Dilated intracranial translucency and Blake‘s pouch cyst: first-trimester ultrasound markers of occipital cephalocele diagnosed using novel three-dimensional reslicing technique. Journal of clinical ultrasound JCU 2014; 42: 157-161
• 9 Karl K, Kagan KO, Chaoui R. Intra- and interoperator reliability of manual and semi-automated measurements of intracranial translucency. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2012; 39: 164-168
• 10 Chen FC, Gerhardt J, Entezami M et al. Detection of Spina Bifida by First Trimester Screening – Results of the Prospective Multicenter Berlin IT-Study. Ultraschall in der Medizin 2015; DOI: 10.1055/s-0034-1399483.
• 11 Evans MI, Sobiecki MA, Krivchenia EL et al. Parental decisions to terminate / continue following abnormal cytogenetic prenatal diagnosis: „what“ is still more important than „when“. American journal of medical genetics 1996; 61: 353-355
• 12 Nicolaides KH. Turning the pyramid of prenatal care. Fetal diagnosis and therapy 2011; 29: 183-196