Pregnancy
Conditions
Brief summary
Combined first-trimester screening represents the gold standard of risk assessment for the presence of trisomy 21, 18, and 13. The concept is based on the age risk, the measurement of fetal nuchal translucency (NT), and the determination of serum markers free beta-hCG and PAPP-A in maternal blood. In recent years it has been shown that the risk assessment can be improved by combining in-depth ultrasound and cell-free DNA analysis from maternal blood. In their latest study, the investigators were able to detect all fetuses with trisomy 21, 18, and 13 through this procedure. No normal fetus displayed an increased risk. In contrast, the detection rate in classic, combined first-trimester screening is about 95% and the false-positive rate is 3-5%. In this study the investigator examine the test quality - especially the false positives - of cell-free DNA analysis on trisomy 21, 18 and 13 as well as on the microdeletion 22q in 1000 pregnancies.
Interventions
DIAGNOSTIC_TESTcfDNA screening
cfDNA screening test for aneuploidy risk assessment
Sponsors
University Hospital Tuebingen
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
* Maternal age of 18 years and more * Crown rump length 45 - 84mm * Referral for first trimester risk assessment * Singleton pregnancy * Written consent
Exclusion criteria
* No consent * Known parental microdeletion 22q11.2 * Crown rump length \<45mm or \>84mm * Multiple pregnancies including vanishing twins
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Screen positive rate | 15 month | Screen-positive rate will be calculated by proportion of high risk results compared to all cfDNA tests performed |
| Screen false-positive rate | 15 month | False-positive rate will be calculated by proportion of high risk results compared to all cfDNA tests performed in pregnancies with a normal offspring |
| Uninformative test rate in cfDNA screening for 22q11.2 deletion | 15 month | Rate of uninformative tests will be defined by proportion of cfDNA screening for 22q11.2 deletion without results compared to all cfDNA tests performed |
Countries
Germany
Contacts
PRINCIPAL_INVESTIGATORKarl-Oliver Kagan, Prof.
University Hospital Tuebingen, Department of Women's Health
Outcome results
None listed