Physicians' Information

Procedural Recommendations

General Notes
Certified Laboratories
The Annual Audits
Procedural Recommendations
  Pre-examination counselling (11-14 week ultrasound scan)
  The patient´s participation in first-trimester screening is voluntary.
Experiences gained from recognised Pregnancy Conflict Counselling Centres in Germany show that many pregnant women are not sufficiently informed about the possibilities and limits of prenatal diagnosis and about consequences to be drawn from suspicious findings. Therefore, it must be ensured prior to examination that the respective woman has had sufficient time to obtain information as to which consequences may result from an examination: Diagnosis of fetal malformation in approx. 3-5 % of all cases, reduction of the trisomy 21 risk in approx. 90-95 % of cases, unchanged or increased risk of trisomy 21 in approx. 5-10 %, chorionic villus sampling in approx. 5 %, miscarriage following invasive intervention in approx. 1 %, diagnosis of trisomy 21, delivery of a child affected by trisomy 21, induced abortion. Pertinent information leaflets which may be obtained from the website of the FMF-Germany ( or from other counselling centres will be helpful in this respect. A physician´s interview conducted prior to the examination will contribute to remedying a possible lack of medical information and will solve problems of understanding.
In the framework of normal prenatal care, women and parents shall have the right to decide freely, after being fully informed, as to which prenatal examinations they would like to have performed in their case. Pertinent methods of prenatal care should therefore be dispensed with as long as the respective parties have not been informed. The right of women and parents to choose not to be informed as to whether their child may be born with a handicap must be respected at all times.
  Post-examination counselling (11-14 week ultrasound scan)
The main advantage of first-trimester malformation screening including nuchal translucency measurement is that it offers the possibility to calculate and disclose the risk of trisomies 21, 18 and 13 right after the examination. To do so, the free-of-charge version of the programme for first-trimester risk assessment can be used, whereby the risks can be visualised graphically on a screen for further explanation.
If the ultrasound scan yields a suspicious nuchal translucency value (NT>95th percentile), a suspicious risk assessment (>1:300) for trisomy or a malformation, the respective woman should be counselled to have a follow-up examination performed at a medical centre focusing on prenatal diagnosis. There she may obtain genetic counselling and undergo invasive diagnostic testing. If the diagnosis of chromosomal abnormality is established, parents can be informed about the type of disorder and its prognosis as well as about options for therapy. If the parents wish to terminate the pregnancy, and if there is an indication for induced abortion, it is recommended that the woman and the couple, respectively, be carefully prepared for the termination of pregnancy and the ensuing period of mourning by having ready access to psychological care which also protects them from taking precipitous decisions in a state of shock.
Once a diagnosis of first-trimester malformation has been established, post-examination counselling must take into account that a sufficiently reliable ultrasound diagnosis of a number of malformations or disorders, irrespectively of whether nuchal translucency values have been rated as suspicious or not, will only be possible at a later stage of pregnancy (18-23 weeks) and that some malformations may even remain undetected.
  Counselling following ultrasound scanning and biochemical analysis (11-14 weeks of pregnancy)
If the examination includes first-trimester biochemical analysis of the mother´s serum (free beta-hCG and PAPP-A), there are basically several counselling options.
Some centres will offer the possibility to perform an analysis of the mother´s blood sample in conjunction with the ultrasound scan (One-Stop Clinic for Assessment of Risks (OSCAR)), so that the patient can be informed about the initial risk and the overall risk (based on maternal age, NT and biochemical result) right at the end of the examination.
As a rule, however, a maternal blood sample will be collected, with the result of the analysis being available one or two days later.
Taking all this into account, patient information may take different forms:
  The result of nuchal translucency measurement is disclosed right at the end of the ultrasound examination. When the results of the biochemical analysis are available, the overall risk is calculated anew, and the physician who has performed the examination will announce the result to the patient over the telephone.
  If the measured value is below the 95th percentile, no risk information will be provided to the patient right after nuchal translucency measurement. Only when the risk factor has been assessed conclusively following the analysis of all results (NT and biochemical analysis of maternal serum) will the physician who has performed the ultrasound scan announce his findings by telephone some days later.
In approximately 85 - 90 % of all cases, both nuchal translucency measurement and the biochemical analysis will lead to a reduction of the risk. In some 10 - 15 % of cases, however, nuchal translucency measurement will reduce the risk, whereas maternal serum analysis will increase it. Even in cases where the overall risk (NT and biochemical analysis of maternal serum) has diminished in comparison with the initial risk, considerable uncertainty may ensue on the mother´s side, which may be remedied solely by invasive diagnostic testing.
In order to avoid both this counselling dilemma and unnecessary invasive intervention, blood analysis can be performed some days prior to the ultrasound scan so that the biochemical result will be already available on the day of ultrasound examination. This, too, will allow a comprehensive assessment of the overall risk at the end of the ultrasound examination.