Clinical trial NCT02278874: High Risk 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: MOUNT SINAI HOSPITAL
name: Montefiore Medical Center
name: Long Island Jewish Medical Center
name: Tufts Medical Center
First posted: 2014-10-30
Enrollment: 99
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 proprietary algorithm 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 other currently available screening tests.

This will result in fewer unnecessary amniocenteses and Chorionic Villus Sample (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
* Pregnancy at high risk for genetic aneuploidy as defined below:

  * Confirmed positive aneuploidy by invasive testing
  * Non invasive prenatal testing "high risk" result
  * Serum screening risk of greater than 1:100
  * Ultrasound abnormalities indicative of aneuploidy

    * Structural abnormality of the posterior fossa
    * Holoprosencephaly
    * Structural cardiac anomaly
    * Omphalocele
    * Nuchal translucency greater than or equal to 3.5 mm or a nuchal fold greater Hydrops of unknown etiology
  * Age ≥ 38 years at delivery (if serum screening risk is not less than 1:100)
* 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: Screening capability of proprietary algorithm in the form of a risk results classified as positive result for aneuploidy, negative result for aneuploidy or 'no call.'
timeFrame: 4 years
Secondary outcomes:
Other outcomes:
Locations:
city: Boston
country: United States
facility: Tufts Medical Center
state: Massachusetts
city: Bronx
country: United States
facility: Montefiore Medical Center
state: New York
city: Glen Cove
country: United States
facility: Long Island Jewish Medical Center
state: New York
city: New York
country: United States
facility: Mt. Sinai Hospital
state: New York
Study officials:
affiliation: Mt. Sinai Hospital, New York
name: Joanne Stone, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Montefiore Medical Center
name: Peer Dar, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Long Island Jewish Medical Center
name: Rajeevi Madankumar, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Tufts Medical Center
name: Errol Norwitz, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
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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.