Ultraschall in Med 2019; 40(02): 176-193
DOI: 10.1055/a-0631-8898
Guidelines & Recommendations
© Georg Thieme Verlag KG Stuttgart · New York

DEGUM, ÖGUM, SGUM and FMF Germany Recommendations for the Implementation of First-Trimester Screening, Detailed Ultrasound, Cell-Free DNA Screening and Diagnostic Procedures

Article in several languages: English | deutsch
Peter Kozlowski
1  praenatal.de, Prenatal Medicine and Genetics, Düsseldorf, Germany
,
Tilo Burkhardt
2  Clinic of Obstetrics, University Hospital Zurich, Switzerland
,
Ulrich Gembruch
3  Department of Obstetrics and Perinatal Medicine, Medical University Bonn, Germany
,
Markus Gonser
4  Department of Obstetrics and Prenatal Medicine HELIOS Dr. Horst Schmidt Kliniken, Wiesbaden, Germany
,
Christiane Kähler
5  Prenatal Medicine, Erfurt, Germany
,
Karl-Oliver Kagan
6  Department of Obstetrics and Prenatal Medicine, Medical University Tübingen, Germany
,
Constantin von Kaisenberg
7  Obstetrics and Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Medicine, Hannover Medical School, Hannover, Germany
,
Philipp Klaritsch
8  Department of Obstetrics and Gynecology, Medical University Graz, Austria
,
Eberhard Merz
9  Center for Ultrasound and Prenatal Medicine, Frankfurt, Germany
,
Horst Steiner
10  Praenamed, Salzburg, Austria
,
Sevgi Tercanli
11  Ultraschallpraxis Freie Strasse, Basel, Switzerland
,
Klaus Vetter
12  Private, Berlin, Germany
,
Thomas Schramm
13  Prenatal Medicine and Genetics, München, Germany
› Author Affiliations
Further Information

Publication History

20 March 2018

23 April 2018

Publication Date:
12 July 2018 (eFirst)

Abstract

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.