Aneuploidy, Chromosome Deletion, DiGeorge Syndrome, Down Syndrome, Edwards Syndrome, Klinefelter Syndrome, Patau Syndrome, Turner Syndrome
Conditions
Keywords
Down syndrome, Edwards syndrome, Patau syndrome, Klinefelter syndrome, DiGeorge syndrome, Chromosome Deletion, Aneuploidy
Brief summary
In January 2007, the American Congress of Obstetricians and Gynecologists (ACOG) revised its guidelines that now recommend physicians are ethically obligated to fully inform all pregnant women that screening for fetal chromosomal abnormalities including biochemical screening tests and invasive procedures such as CVS or amniocentesis is available, regardless of age. Further, it is entirely up to the patient to decide whether or not she wishes to be screened for fetal chromosomal abnormalities without judgment from the physician. Noninvasive laboratory-developed tests (LDTs) that detect an abnormal amount of maternal and fetal DNA in an expectant mother's blood sample (known as circulating cell-free DNA) are now available. These LDTs have not been cleared or approved by the U.S. Food and Drug Administration (FDA). Although LDTs to date have not been subject to U.S. FDA regulation, certification of the laboratory is required under the Clinical Laboratory Improvement Amendments (CLIA) to ensure the quality and validity of the test. To sample collection study will obtain whole blood specimens from pregnant subjects to be used for development of prenatal assays to assist in the screening for fetal genetic abnormalities, infectious and other diseases, and blood group typing through detection of circulating cell-free DNA extracted from maternal plasma.
Detailed description
Eligible subjects will provide written informed consent after which basic demographic and clinical data will be collected. Study procedures involve the collection of 50 mL of whole blood at one or more monthly clinic visits (≥25 days apart) from pregnant women (18 to 54 yrs of age) carrying a single fetus of 8 to 22 weeks of gestational age inclusive.
Interventions
OTHERBlood sampling for Laboratory Developed Test (LDT) analysis
Each enrolled subject, either in the first or second trimester, will donate up to 50 mL (just over 3 tablespoons) of whole blood for development of the LDT
Sponsors
Progenity, Inc.
Study design
Observational model
FAMILY_BASED
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to 54 Years
Healthy volunteers
No
Inclusion criteria
* Subject is willing to provide informed consent and comply with study procedures * Pregnant female, 18 to 54 years of age carrying a singleton fetus of 8 to 22 weeks gestational age * Willing to provide a study blood sample in accordance with the protocol * Willing to allow access to her medical records to collect pregnancy outcome information * Willing to provide consent for release of fetal karyotype if an invasive procedure (CVS or amniocentesis) is performed during the pregnancy * Subject is known to be at risk for one or more of the following: * fetal gene and chromosome abnormalities (e.g., T21, T18, T13, microdeletion syndromes, sex chromosome abnormalities) * congenital fetal infection (e.g. toxoplasmosis, syphilis, HIV, rubella, CMV, HSV) * irregular blood group antigens (subject or father of the baby) * other condition amenable to noninvasive prenatal testing such as a single gene disorder (e.g., CF, sickle cell, Fragile X)
Exclusion criteria
* No fetal heart activity detected * Mother or father have known chromosomal abnormalities (including known balanced translocations) * Women with active or history of malignancy
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Point estimates and 95% CIs for sensitivity, specificity, PPV, and NPV versus birth outcome (trisomy or Unaffected/non-trisomy) for the LDT in the population of pregnancies at mixed-risk for chromosomal abnormalities | about 3 years | Primary Objective |
Secondary
| Measure | Time frame |
|---|---|
| To estimate the false positive rate of the LDT versus birth outcome (trisomy or Unaffected/ non-trisomy) in a low-risk sub-population of pregnant women undergoing serum biochemical screening for fetal aneuploidy. | about 3 years |
Countries
United States
Outcome results
None listed