Multiple Gestation Study

NCT02278536 | Completed

• 1 other identifier: 13-016-NPT
• Study Type: observational
• Target: 354
• Locations: 3 countries
• Sites: 8

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.

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

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (2)

Multiple high risk gestation pregnancies

women pregnant with twins or triplets at high risk for aneuploidy

Multiple low risk gestation pregnancies

women pregnant with twins or triplets at low risk for aneuploidy

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Pregnant Women

You may qualify if:

• 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

You may not qualify if:

• Women carrying singleton pregnancy
• Surrogate or egg donor used

Sponsors & Collaborators

• Natera, Inc.: lead
• Houston Perinatal Associates: collaborator
• Lyndhurst Clinical Research: collaborator
• Dr. Carpenter Maternal Fetal Medicine Clinic: collaborator
• San Diego Perinatal Center: collaborator

Study Sites (8)

Natera, Inc.

San Carlos, California, 94070, United States

Location

San Diego Perinatal Center

San Diego, California, 92123, United States

Location

Carnegie Hill Imaging for Women

New York, New York, 10128, United States

Location

Lyndhurst Clinical Research

Winston-Salem, North Carolina, 27103, United States

Location

Office of Dr. Robert Carpenter

Houston, Texas, 77030, United States

Location

Houston Perinatal Associates

Houston, Texas, 77054, United States

Location

Bangalore Fetal Medicine Centre

Bangalore, India

Location

Fetal Medicine & Gynaecology Centre

Petaling Jaya, Selangor, Malaysia

Location

Related Publications (8)

• 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):210-218. doi: 10.1097/AOG.0000000000000363.

  PMID: 25004354 BACKGROUND

• 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.

  PMID: 21310373 BACKGROUND

• 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.

  PMID: 22005709 BACKGROUND

• 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.

  PMID: 21519036 BACKGROUND

• 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.

  PMID: 22362253 BACKGROUND

• 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.

  PMID: 22281937 BACKGROUND

• 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.

  PMID: 22742782 BACKGROUND

• 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.

  PMID: 22585317 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Maternal and Paternal blood samples CVS or Amniocentesis sample (optional) Child saliva sample (optional) \*Biospecimen retention is optional portion of consent form

MeSH Terms

Conditions

Trisomy 13 Syndrome; Trisomy 18 Syndrome; Down Syndrome; Sex Chromosome Aberrations; Turner Syndrome

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Chromosome Aberrations; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Gonadal Dysgenesis; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Sex Chromosome Disorders of Sex Development; Male Urogenital Diseases; Sex Chromosome Disorders; Gonadal Disorders; Endocrine System Diseases

Study Officials

• Brian Kirshon, MD

  Houston Perinatal Associates

  PRINCIPAL INVESTIGATOR

• Robert Lamar Parker, MD

  Lyndhurst Clinical Research

  PRINCIPAL INVESTIGATOR

• Robert Carpenter, MD

  Office of Dr. Robert Carpenter

  PRINCIPAL INVESTIGATOR

• Zach Demko, PhD

  Natera, Inc.

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: October 28, 2014
• First Posted: October 30, 2014
• Study Start: March 1, 2013
• Primary Completion: March 1, 2019
• Study Completion: March 1, 2019
• Last Updated: August 26, 2019

Record last verified: 2019-08

Locations

US (6); IN (1); MY (1)