First Trimester Risk Assessment Based on Ultrasound and Cell-free DNA vs Combined Screening

Not Applicable

Completed

• Conditions: Aneuploidy

• Registration Number: NCT04077060
• Lead Sponsor: Federico II University

Brief Summary

There is an ongoing debate regarding how cell-free DNA (cfDNA) screening can best be incorporated into current prenatal screening algorithms for chromosomal abnormalities.

Test performance of cfDNA has been shown to be better that first-trimester combined screening (FTCS). However, the cost of the cfDNA testing is considered too high to adopt as first line screening. Moreover, FTCS includes a detailed ultrasound examination of the fetus with nuchal translucency (NT) measurement that allows for early detection of fetal abnormalities.

An approach in which every woman are offered an early anatomy scan along with cfDNA may also be a reasonable option. Recently a randomized controlled trial, including 1,518 women with singleton pregnancy undergoing first-trimester screening, compared the screening performance of FTCS with an approach that uses the combination of a detailed ultrasound examination and cfDNA analysis. The trial showed that first-trimester risk assessment for trisomy 21 that includes a detailed ultrasound examination along cfDNA was associated with a significant reduction in the false-positive rate compared with FTCS. This approach obviates the need for maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A in screening for fetal aneuploidy.

Despite robust evidence on the very high detection rate of cfDNA in detecting trisomy 21, literature is lacking on data regarding women's experience and emotional well-being and satisfaction after test-results of women offered cfDNA compared to those offered FTCS.

Detailed Description

Not available

Study Timeline

• Study Start: 2019-08-26
• Study First Submitted: 2019-08-26
• Study First Submitted QC: 2019-08-30
• Study First Posted: 2019-09-04
• Primary Completion: 2020-01-15
• Status Verified: 2020-02
• Study Completion: 2020-02-15
• Last Update Submitted: 2020-02-20
• Last Update Posted: 2020-02-24

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 40

Inclusion Criteria

• Pregnant women with singleton gestations
• ≤12 6/7 weeks of gestation
• Normal ultrasound examination at the time of randomization
• >18 <45 years
• Crown-rump length (CRL) <84 mm at the time of randomization

Exclusion Criteria

• Multiple gestations, including vanishing twins
• >12 6/7 weeks of gestation
• Ectopic pregnancy
• Abnormal ultrasound examination at the time of first prenatal visit
• Women who are unconscious, severly ill, mentally handicapped, or under the age of 18 years.
• Women who have already planned for invasive prenatal testing, e.g. for a history of prior child or pregnancy with chromosomal or genetic abnormalities
• CRL >84mm at the time of randomization

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Primary Outcome Measures

Name	Time	Method
reassurance	at the time of screening test	women will be asked about three questions, with up to 35 point for each question. 1) are you reassured about the test? 2) are you sure the test is correct? 3) test give me certain reassurance about the syndrome of my child
Anxiety	at the time of screening test	anxiety test assessed by The Pregnancy-Related Anxiety Questionnaire (PRAQ-R)
Satisfaction of the pregnant women	11-13 weeks of gestation	women will be asked if retrospectively they are happy with the assigned screening test as post-test satisfaction questionnaire: * Not all applicable (5 points); * Hardly applicable (10 points); * Somewhat applicable (20 points); * Very much applicable (35 points)
False positive rate	1 week after test	False positive rate for any trosomy and for trisomy 21

Trial Locations

Locations (1)

Gabriele Saccone; 🇮🇹 Napoli, Italy