This article reviews the performance of first trimester screening for chromosomal anomalies using various combinations of ultrasound and maternal serum biochemical modalities. Detection rates in excess of 90% can be routinely achieved for Trisomy 21, Trisomy 13, Trisomy 18 using a combination of fetal nuchal translucency (NT) thickness and maternal serum free ss-hCG and PAPP-A at 11 + 0 to 13 +...

BACKGROUND Previous studies showed that soluble LHCGR/hCG-sLHCGR concentrations in serum or plasma combined with PAPP-A and free βhCG significantly increased the sensitivity of Down's syndrome screen at early pregnancy without altering the false positive rate. The goal of the present study was to further examine the role of sLHCGR forms as combinatorial markers and to investigate whether sLHCGR...

OBJECTIVE To assess clinical measurement competency by two sequential test formulations [resetting sequential probability ratio test (R-SPRT) and learning curve cumulative summation (LC-CUSUM)]. DESIGN Numerical simulation and retrospective observational study. SETTING Obstetric ultrasound department. PARTICIPANTS Cohorts of 10,000 simulated trainees and 62 obstetric sonographers training...

OBJECTIVE To examine the significance of fetal nuchal translucency at 10-14 weeks' gestation in the prediction of abnormal fetal karyotype. DESIGN Prospective screening study. SETTING The Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London. SUBJECTS 827 fetuses undergoing first trimester karyotyping by amniocentesis or chorionic villus sampling. MAIN OU...

To determine the diagnostic accuracy of Kernig's sign, Brudzinski's sign, and nuchal rigidity for meningitis, 297 adults with suspected meningitis were prospectively evaluated for the presence of these meningeal signs before lumbar puncture was done. Kernig's sign (sensitivity, 5%; likelihood ratio for a positive test result [LR(+)], 0.97), Brudzinski's sign (sensitivity, 5%; LR(+), 0.97), and ...

Keyword Down syndrome, Trisomy, Nuchal Translucency, Chromosomal Abnormalities, Gray Level Cooccurrence Matrix(GLCM), Support Vector Machine (SVM) Down syndrome or Trisomy 21 is a genetic disorder which causes mental disability to the baby during the gestation period. Ultrasound scan, a noninvasive test which includes ultrasound fetal image scan for the Nuchal Translucency measurement (NT). Thi...

A 29-year-old woman with acute lancinating headache, throbbed nuchal pain and subacute paraparesis underwent brain MRI in supine position that depicted: the absence of the cisterna magna, filled by non herniated cerebellar tonsils and compression of the brain stem and cisternae of the posterior fossa, which are aspects of the impacted cisterna magna without syringomyelia and without hydrocephal...

Nuchal translucency (NT) measurement in first trimester screening between 11 and 14 weeks' gestation has now been clearly identified as a marker for aneuploidies and in particular for trisomy 21. Even in the absence of aneuploidy increased fetal nuchal translucency has been shown to be a marker for fetal heart malformations and numerous other fetal defects and genetic syndromes when the measure...