Non-Invasive Determination of Fetal Chromosome Abnormalities

NCT00891852 | Unknown DMC

• 1 other identifier: 110106-1
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 7

Brief Summary

The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (trisomy 21), Edward's syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter syndrome, (47, XXY), and other chromosome abnormalities. Accomplishing that task would reduce the need for invasive amniocentesis and CVS procedures.

Conditions

Down Syndrome (Trisomy 21); Edward's Syndrome (Trisomy 18); Patau Syndrome (Trisomy 13); Klinefelter Syndrome (47, XXY); and Other Chromosome; Abnormalities.

Eligibility Criteria

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

Study Population

The investigators anticipate enrolling 1000 subjects who are presenting for prenatal diagnosis by CVS or genetic amniocentesis for increased risk for fetal aneuploidy.

You may qualify if:

• This study is only applicable to women who are between 8 and 30 weeks' gestation and who have been determined increased risk for fetal aneuploidy. In the interest of expediting and simplifying this study, the investigators want only women who have already decided to undergo second-trimester amniocentesis or CVS.

Sponsors & Collaborators

• Lenetix Medical Screening Laboratory: lead

Study Sites (7)

Maryland Perinatal Associates

Rockville, Maryland, 20850, United States

RECRUITING

Atlantic Maternal Fetal Medicine

Moristown, New Jersey, 07960, United States

RECRUITING

Winthrop University Hospital

Mineola, New York, 11501, United States

RECRUITING

Elite Women's Health

New Hyde Park, New York, 11042, United States

RECRUITING

Columbia University, NewYork-Presbyterian Hospital

New York, New York, 10022, United States

RECRUITING

New York Perinatal Associates

New York, New York, 10128, United States

RECRUITING

UVM

Burlington, Vermont, 05405, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Plasma

MeSH Terms

Conditions

Down Syndrome; Trisomy 18 Syndrome; Trisomy 13 Syndrome; Klinefelter Syndrome; Congenital Abnormalities

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Sex Chromosome Disorders of Sex Development; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Sex Chromosome Disorders; Gonadal Disorders; Endocrine System Diseases; Hypogonadism

Study Officials

• Stephen A Brown, MD

  Lenetix, Inc.

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: INDUSTRY

Study Record Dates

• First Submitted: April 29, 2009
• First Posted: May 1, 2009
• Study Start: January 1, 2009
• Primary Completion: December 1, 2009
• Study Completion: December 1, 2009
• Last Updated: May 1, 2009

Record last verified: 2009-04

Locations

US (7)