Down Syndrome Screening Based on Dried Blood Spots and Cell-free Fetal DNA

NCT01837979 | Unknown DMC

• 1 other identifier: Down syndrome screening
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 1

Brief Summary

There are 26,600 Down Syndrome newborns every year in China. The economic burden of this disease is 65,000 USD for lifetime of every patient. The common prenatal screening and diagnosis procedure for fetal chromosomal abnormalities in China is maternal serum prenatal screening in second trimester followed by amniocentesis. The detection rate of MSS is 70%-75% with 5% false positive rate. There are only 13.9% of pregnant women can receive prenatal screening testing in China. It is very urgent that we build a training system and convenient, efficient, cost-effective procedure suitable to rural China. The use of dried blood spots (DBS) technology in conjunction with the second trimester prenatal screening protocol has been proved to be as efficient as serum screening by our previous study. Noninvasive prenatal testing that uses cell free fetal DNA (cff DNA) from the plasma of pregnant women offers a tremendous potential for fetal chromosomal abnormalities. A positive test should be followed by invasive prenatal diagnosis to confirm the test results. Cff DNA is a good supplement to the DBS technology in rural China. A combination of the two methods can increase the screening rate and accuracy without increasing the demand of amniocentesis and cytogenetic test. This procedure with adequate training system should be suitable to rural China. Our study will build a training system for DBS and cffDNA prenatal screening procedure in Pinggu, Beijing. Two thousand pregnant women will receive prenatal screening. DBS sample will be collected in the second trimester, Cff DNA is offered to confirm the positive screening test results, and lastly amniocentesis is offered for confirmation of the test results. All of the pregnancy and neonatal outcomes will be followed. We can estimate the efficiency and cost-effectiveness of DBS followed with cff DNA screening procedure.

Conditions

Trisomy 21

Keywords

prenatal testing for fetal aneuploidy; dried blood spots; cell-free fetal DNA; detection rate; cost-effectiveness

Outcome Measures

Primary Outcomes (1)

• detection rate

  Detection rate of trisomy 21 based on dried blood spots and cell-free fetal DNA. Compare the detection rate of screening test on dried blood spots with maternal serum screening test.

  April, 2015

Secondary Outcomes (1)

• positive predictive value and negative predictive value

  3 years

Study Arms (2)

DBS screening test

cell-free fetal DNA for Dried blood spots samples in high risk pregnant women.

Procedure: cell-free fetal DNA

maternal serum screening test

cell-free fetal DNA for maternal serum screening test samples in high risk pregnant women.

Procedure: cell-free fetal DNA

Interventions

cell-free fetal DNA PROCEDURE

cell-free fetal DNA for DBS and maternal serum screening high risk pregnant women. Comparison of multiple Down's syndrome screening tests.

DBS screening test; maternal serum screening test

Eligibility Criteria

• Age: 18 Years - 35 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

pregnant women with 15-20+6 weeks of gestation

You may qualify if:

• Single gestation;
• Chinese natives or non-Chinese citizen of Chinese ancestry;
• +6 weeks of gestation;
• be able to accept follow-ups of the pregnancy outcome;
• healthy, without other major or chronic diseases;

You may not qualify if:

• N/A

Sponsors & Collaborators

• Peking Union Medical College Hospital: lead

Study Sites (1)

Department of ob gyn, Peking Union Medical College Hospital

Beijing, Beijing Municipality, 100730, China

Location

MeSH Terms

Conditions

Down Syndrome

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn

Study Officials

• Liangkun Ma, MD

  Peking Union Medical College

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 14, 2013
• First Posted: April 23, 2013
• Study Start: April 1, 2013
• Primary Completion: January 1, 2015
• Study Completion: January 1, 2015
• Last Updated: April 23, 2013

Record last verified: 2013-04

Locations

CN (1)