First-trimester screening between 11 + 0 and 13 + 6 weeks with qualified prenatal counseling, detailed ultrasound, biochemical markers and maternal factors has become the basis for decisions about further examinations. It detects numerous structural and genetic anomalies. The inclusion of uterine artery Doppler and PlGF screens for preeclampsia and fetal growth restriction. Low-dose aspirin significantly reduces the prevalence of severe preterm eclampsia. Cut-off values define groups of high, intermediate and low probability. Prenatal counseling uses detection and false-positive rates to work out the individual need profile and the corresponding decision: no further diagnosis/screening - cell-free DNA screening - diagnostic procedure and genetic analysis. In pre-test counseling it must be recognized that the prevalence of trisomy 21, 18 or 13 is low in younger women, as in submicroscopic anomalies in every maternal age. Even with high specificities, the positive predictive values of screening tests for rare anomalies are low. In the general population trisomies and sex chromosome aneuploidies account for approximately 70 % of anomalies recognizable by conventional genetic analysis. Screen positive results of cfDNA tests have to be proven by diagnostic procedure and genetic diagnosis. In cases of inconclusive results a higher rate of genetic anomalies is detected. Procedure-related fetal loss rates after chorionic biopsy and amniocentesis performed by experts are lower than 1 to 2 in 1000. Counseling should include the possible detection of submicroscopic anomalies by comparative genomic hybridization (array-CGH). At present, existing studies about screening for microdeletions and duplications do not provide reliable data to calculate sensitivities, false-positive rates and positive predictive values.
The authors examined 105 proved cases of aspergillosis involving the paranasal sinuses or nasal fossa. Mycosis was always unilateral, and the maxillary sinus was infected in all cases. Early stages were manifested by an intraluminal soft-tissue mass representing the mass of mycelia. Fifty-nine patients (56%) demonstrated very dense intraluminal calcifications. Such dense concretions suggest the diagnosis of aspergillosis.
Three-dimensional (3D) ultrasound offers several options extending conventional two-dimensional scanning. Various imaging modes are available. Three perpendicular planes displayed simultaneously can be rotated and translated in order to obtain accurate sections and suitable views needed for diagnosis and geometric measurements. 3D ultrasound tomography combines the advantages of ultrasound, e.g. safety, simplicity of application and inexpensiveness, with the advantages of sequentially depictable sections in numerous rotatable and translatable sections. Surface rendering gives detailed plastic images if there are surrounding layers of different echogenicity allowing for the definition of a certain threshold. Transparent modes provide an imaging of structures with a higher echogenicity in the interior of the object. A combination of the two modes sequentially definable by the sonographer allows for the optimal viewing of structures. These imaging modes are innovative features which have to be evaluated for clinical applicability and usefulness. Digital documentation of whole volumes enables full evaluation without loss of information at a later point. 3D technology provides an enormous number of technical options which have to be evaluated for their diagnostic significance and limitations in obstetrics and gynaecology.
Children diagnosed with craniosynostosis have a significantly higher rate of numerous birth complications compared to the overall births documented at the Birth Registry of Tyrol.
The early fetal ultrasound assessment at 11 - 13(+6) weeks of gestation remains the cornerstone of care despite the progress in diagnosing fetal chromosomal defects using cell-free fetal DNA (cffDNA) from the maternal circulation. The measurement of nuchal translucency (NT) allows the risk calculation for the fetal trisomies 21, 18 and 13 but also gives information on those fetal chromosomal defects which are at present unable to be detected using cffDNA. Nuchal translucency is the only auditable parameter at 11 - 13(+6) weeks and gives thus information on the quality of the first trimester anomaly scan. In addition it gives indirect information on the risks for fetal defects and for cardiac anomalies. Also the chances for a healthy live baby can be estimated. As experience with first trimester anomaly scanning increases, and the resolution of the ultrasound equipment has increased substantially, more and more details of the fetal anatomy become accessible at the first trimester scan. Therefore fetal anatomical defects and complex anomalies have become amenable to examination in the first trimester. This guideline describes compulsory and optional parameters for investigation at the first trimester scan and outlines a structured method of examining a first trimester fetus at 11 - 13(+6) weeks of gestation.
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