Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies

Browse trials for

• Down Syndrome 432
• Aneuploidy 87

Keywords

• Down syndrome
• fetal aneuploidy
• trisomy
• noninvasive prenatal test

Down Syndrome

432 studies on the registry are indexed under Down Syndrome; 100 are open to participants now.

This study's enrollment of 3,062 is above the median of 150 across 141 observational studies indexed under Down Syndrome.

Lead sponsor

Sequenom, Inc. is the lead sponsor of 26 studies on the registry; 5 are open to participants now.

Study population

Groups and cohorts

• High risk pregnant subjects undergoing an invasive procedure

  Women with one or more high risk factors for fetal chromosome 21 aneuploidy scheduled to undergo an invasive procedure for fetal karyotype determination.

• High risk subjects electing not to undergo invasive procedure

  Women with one or more high risk factors for fetal chromosome 21 aneuploidy who elect not to undergo an invasive procedure for fetal karyotype determination.

Primary outcomes

1. Clinical Assay Performance

   Each subject will provide a single blood sample prior to undergoing an amniocentesis/CVS that will be processed to plasma and stored frozen until the end of the study. Frozen plasma samples will then be analyzed using the SEQureDx Trisomy Test and the sensitivity and specificity of the assay will be determined by comparing the plasma test results to the fetal karyotyping results obtained via aminiocentesis or CVS. A subject's participation ends after the results of the fetal karyotype are obtained and recorded.

   Time frame: Performance of the assay will be based upon a single blood sample collected during the only study visit from a high risk pregnancy prior to the subject undergoing an invasive procedure (amniocentesis or CVS) to confirm fetal karyotype.

Secondary outcomes

1. Subject selection bias assessment

   All subjects that enter the study are at high risk for fetal aneuploidy. However, sensitivity and specificity of the assay will be based upon those subjects that have a confirmed fetal karyotype obtained by amniocentesis/CVS. Subject selection bias assessment will be done by comparing SEQureDx Trisomy T21 Test results between women who agree to undergo an invasive procedure to obtain fetal karyotype and women who elect not to undergo an invasive procedure.

   Time frame: A single blood sample will be collected at a single clinic visit from high risk pregnancies that refuse to undergo an invasive procedure.

Publications

• Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012 Mar;14(3):296-305. doi: 10.1038/gim.2011.73. Epub 2012 Feb 2. PubMed 22281937 ↗
• Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011 Nov;13(11):913-20. doi: 10.1097/GIM.0b013e3182368a0e. PubMed 22005709 ↗
• Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011 Mar;204(3):205.e1-11. doi: 10.1016/j.ajog.2010.12.060. Epub 2011 Feb 18. PubMed 21310373 ↗