Clinical trial NCT02278536: Multiple Gestation Study
Official title: Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Trisomy 13
Trisomy 18
Trisomy 21
Sex Chromosome Abnormalities
Keywords: Trisomy 13
Trisomy 18
Trisomy 21
Sex Chromosome Abnormalities
Monosomy X
XXX
XXY
XYY
Lead sponsor: Natera, Inc.
Sponsor class: INDUSTRY
Collaborators: name: Houston Perinatal Associates
name: Lyndhurst Clinical Research
name: Dr. Carpenter Maternal Fetal Medicine Clinic
name: San Diego Perinatal Center
First posted: 2014-10-30
Enrollment: 354
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Pregnant Women

Brief 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.


Eligibility criteria: 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

Primary outcomes:
measure: 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.'
timeFrame: 2 years
Secondary outcomes:
Other outcomes:
Locations:
city: San Carlos
country: United States
facility: Natera, Inc.
state: California
city: San Diego
country: United States
facility: San Diego Perinatal Center
state: California
city: New York
country: United States
facility: Carnegie Hill Imaging for Women
state: New York
city: Winston-Salem
country: United States
facility: Lyndhurst Clinical Research
state: North Carolina
city: Houston
country: United States
facility: Office of Dr. Robert Carpenter
state: Texas
city: Houston
country: United States
facility: Houston Perinatal Associates
state: Texas
city: Bangalore
country: India
facility: Bangalore Fetal Medicine Centre
city: Petaling Jaya
country: Malaysia
facility: Fetal Medicine & Gynaecology Centre
state: Selangor
Study officials:
affiliation: Houston Perinatal Associates
name: Brian Kirshon, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Lyndhurst Clinical Research
name: Robert Lamar Parker, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Office of Dr. Robert Carpenter
name: Robert Carpenter, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Natera, Inc.
name: Zach Demko, PhD
role: PRINCIPAL_INVESTIGATOR
References:
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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.
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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.
citation: 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.
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.
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.
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.