Multiple Gestation Study

Trisomy 21 Clinical Trial

Official title:

Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02278536
• Other study ID #: 13-016-NPT
• Status: Completed
• Start date: March 2013
• Est. completion date: March 2019

Study information

• Verified date: August 2019
• Source: Natera, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

The objectives of the clinical study are to demonstrate the accuracy of our new NATUS diagnostic method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample. The long term goal of this study will be the development of a method of minimally invasive prenatal diagnosis that has a higher sensitivity and lower false positive rate in the intended population (e.g. multiple gestation pregnancies) than any currently available screening tests. This will result in fewer unnecessary amniocenteses and CVS procedures, which are associated with a risk of miscarriage.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 354
• Est. completion date: March 2019
• Est. primary completion date: March 2019
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion Criteria:

• Age 18 or older at enrollment

• Clinically confirmed multiple gestation pregnancy

• Gestational age between = 9 weeks, 0 days and =26 weeks 0 days by best obstetrical estimate

• Able to provide informed consent

Exclusion Criteria:

• Women carrying singleton pregnancy

• Surrogate or egg donor used

Related Conditions & MeSH terms

• Chromosome Aberrations
• Chromosome Disorders
• Congenital Abnormalities
• Down Syndrome
• Sex Chromosome Aberrations
• Sex Chromosome Abnormalities
• Trisomy 13
• Trisomy 18
• Trisomy 21

Locations

Country	Name	City	State
India	Bangalore Fetal Medicine Centre	Bangalore
Malaysia	Fetal Medicine & Gynaecology Centre	Petaling Jaya	Selangor
United States	Houston Perinatal Associates	Houston	Texas
United States	Office of Dr. Robert Carpenter	Houston	Texas
United States	Carnegie Hill Imaging for Women	New York	New York
United States	Natera, Inc.	San Carlos	California
United States	San Diego Perinatal Center	San Diego	California
United States	Lyndhurst Clinical Research	Winston-Salem	North Carolina

Sponsors (5)

Lead Sponsor	Collaborator
Natera, Inc.	Dr. Carpenter Maternal Fetal Medicine Clinic, Houston Perinatal Associates, Lyndhurst Clinical Research, San Diego Perinatal Center

Countries where clinical trial is conducted

United States,  India,  Malaysia, 

References & Publications (8)

Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP; MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012 May;119(5):890-901. doi: 10.1097/AOG.0b013e31824fb482. Erratum in: Obstet Gynecol. 2012 Oct;120(4):957. — View Citation

Canick JA, Kloza EM, Lambert-Messerlian GM, Haddow JE, Ehrich M, van den Boom D, Bombard AT, Deciu C, Palomaki GE. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn. 2012 Aug;32(8):730-4. doi: 10.1002/pd.3892. Epub 2012 May 14. — View Citation

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. — View Citation

Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, Rodriguez MH, Williams J 3rd, Mitchell ME, Adair CD, Lee H, Jacobsson B, Tomlinson MW, Oepkes D, Hollemon D, Sparks AB, Oliphant A, Song K. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8. doi: 10.1016/j.ajog.2012.05.021. Epub 2012 Jun 1. — View Citation

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. — View Citation

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. — View Citation

Pergament E, Cuckle H, Zimmermann B, Banjevic M, Sigurjonsson S, Ryan A, Hall MP, Dodd M, Lacroute P, Stosic M, Chopra N, Hunkapiller N, Prosen DE, McAdoo S, Demko Z, Siddiqui A, Hill M, Rabinowitz M. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol. 2014 Aug;124(2 Pt 1):210-8. doi: 10.1097/AOG.0000000000000363. — View Citation

Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek G, Burke J, Rava RP. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem. 2011 Jul;57(7):1042-9. doi: 10.1373/clinchem.2011.165910. Epub 2011 Apr 25. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	The primary outcome will be to confirm the diagnostic capability of NATUS risk results classified as positive result for aneuploidy, negative result for aneuploidy or 'no call.'	The chromosomal status will be determined from the CVS or amniocentesis results, if available. A cheek swab or saliva sample will be collected from live-born children if there are no CVS or amniocentesis results.	2 years

External Links

•   Validation of a Single-Nucleotide Polymorphism-Based Non-Invasive Prenatal Test in Twin Gestations: Determination of Zygosity, Individual Fetal Sex, and Fetal Aneuploidy