Das Ersttrimester-Screening

  title={Das Ersttrimester-Screening},
  author={Philipp Wagner and M. Hoopmann and Karl Oliver Kagan},
  journal={Der Gyn{\"a}kologe},
ZusammenfassungHintergrundIm Lauf der letzten Jahrzehnte hat sich das Ersttrimesterscreening (ETS) zu einem komplexen Test entwickelt, der auf zahlreiche Komplikationen abzielt. Durch die zellfreie DNA-Analyse (cfDNA) ist nun für die häufigsten Chromosomenstörungen ein weiteres nichtinvasives Testverfahren mit beeindruckender Detektions- und Falsch-positiv-Rate verfügbar. Da seine Testgüte besser ist als die des ETS wird zunehmend ein Wechsel auf die cfDNA-Analyse diskutiert.FragestellungSollte… 
1 Citations

Screening im ersten Trimenon



Principles of first trimester screening in the age of non-invasive prenatal diagnosis: screening for chromosomal abnormalities

Significant advances in screening for trisomy 21 have been made over the past 2 decades and contemporary screening policies can detect for more than 95% of affected fetuses for false positive rate of less than 3%.

Accuracy of First-Trimester Combined Test in Screening for Trisomies 21, 18 and 13

The combined test provides a robust screening method with DR of 90% or greater for trisomies 13, 18, and 21 and could be used in tandem with cfDNA testing to provide highly effective first-trimester noninvasive screening.

Screening for chromosomal abnormalities by first trimester combined screening and noninvasive prenatal testing.

A 2-step policy with FTS for all patients and NIPT in the intermediate risk group results in the highest detection rate of all aneuploidies.

Principles of first trimester screening in the age of non-invasive prenatal diagnosis: screening for other major defects and pregnancy complications

Detailed ultrasound examination results in the detection of about half of major structural defects, determination of a very accurate gestational age, and identification of multiple pregnancies as well as their chorionicity.

Methods of prediction and prevention of pre-eclampsia: systematic reviews of accuracy and effectiveness literature with economic modelling.

The economic model provided little support that any form of Doppler test has sufficiently high sensitivity and specificity to be cost-effective for the early identification of pre-eclampsia, and none of the tests appeared sufficiently accurate to be clinically useful.

Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy.

Fetal nuchal translucency > or = 3 mm is a useful first trimester marker for fetal chromosomal abnormalities.

Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype.

The prevalence of major cardiac defects increases exponentially with fetal NT thickness and in fetuses with NT of 3.5 mm or more it is higher than in pregnancies with a family history of cardiac defects.

Development of prenatal screening--A historical overview.

Prenatal screening for cardiac abnormalities, fragile X syndrome and recessive genetic disorders is underutilized and public health planners should considered a more widespread application of available methods.

Assessment of Fetal Sex Chromosome Aneuploidy Using Directed Cell-Free DNA Analysis

Analysis of cfDNA by chromosome-selective sequencing can correctly classify fetal sex chromosome aneuploidy with reasonably high sensitivity.