First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome

Pregnancy Clinical Trial

— ReFaPo02  

Official title:

First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome - ReFaPo02

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03375359
• Other study ID #: PerFet_ReFaPo02
• Status: Recruiting
• Start date: January 8, 2018
• Est. completion date: August 31, 2022

Study information

• Verified date: January 2022
• Source: University Hospital Tuebingen
• Contact: Karl-Oliver Kagan, Prof.
• Phone: +49 7071 29-82211
• Email: karl.kagan[@]med.uni-tuebingen.de
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1000
• Est. completion date: August 31, 2022
• Est. primary completion date: August 31, 2022
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Female
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• DiGeorge Syndrome
• Down Syndrome
• Pregnancy

Intervention

Diagnostic Test:
• cfDNA screening
cfDNA screening test for aneuploidy risk assessment

Locations

Country	Name	City	State
Germany	University Hospital Tuebingen, Department of Women's Health	Tuebingen

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital Tuebingen

Country where clinical trial is conducted

Germany, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Screen positive rate	Screen-positive rate will be calculated by proportion of high risk results compared to all cfDNA tests performed	15 month
Primary	Screen false-positive rate	False-positive rate will be calculated by proportion of high risk results compared to all cfDNA tests performed in pregnancies with a normal offspring	15 month
Primary	Uninformative test rate in cfDNA screening for 22q11.2 deletion	Rate of uninformative tests will be defined by proportion of cfDNA screening for 22q11.2 deletion without results compared to all cfDNA tests performed	15 month