Active clinical trials for "Aneuploidy"

This is an observational study to develop and evaluate a blood based prenatal blood test. Pregnant women confirmed to be carrying a fetus with a chromosomal abnormality will be eligible. Subjects will be asked to provide a blood sample and a limited amount of clinical data that will be recorded on a case report form. All samples and clinical data will be stripped of subject identifiers prior to submission to Ariosa.

Validate that circulating cell free fetal nucleic acid can be used to identify a direct marker for fetal aneuploidy, particularly fetal Down Syndrome (DS), that is better than surrogate markers.

This study is being conducted to provide clinically annotated samples to support continued improvements in the Ariosa Test content, methodology, specimen processing and quality control.

This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and elect Panorama microdeletion and aneuploidy screening as part of their routine care. The primary objective is to evaluate the performance of Single Nucleotide Polymorphism (SNP)-based Non Invasive Prenatal Testing (NIPT) for 22q11.2 microdeletion (DiGeorge syndrome) in this large cohort of pregnant women. This will be done by performing a review of perinatal medical records and obtaining biospecimens after birth to perform genetic diagnostic testing for 22q11.2 deletion. Results from the follow-up specimens will be compared to those obtained by the Panorama screening test to determine test performance. Specific test performance parameters will include: PPV, specificity, and sensitivity.

This is a prospective, multi-center observational study designed to compare the test results of the Verinata Health Prenatal Aneuploidy Test to results of conventional prenatal screening for fetal chromosome abnormalities in 'all-risk' pregnancies.

Whole blood samples will be collected from high-risk pregnant women to validate the clinical performance of the SEQureDx Trisomy 21 Test.

In general, nearly 85% of retrieved oocytes are mature and reproductively useful after the retrieval, whereas the remaining percentage are still at metaphase I or germinal vesicle stage (MI: 4% and GV: 11 %, respectively). The objective of our study is to assess if immature oocytes co-cultured with autologous cumulus cells is a safer strategy than just leaving the oocytes in standard culture.

To collect samples for the purpose of developing and optimizing an in vitro noninvasive prenatal diagnostic (NIPD) test. The NIPD test employs circulating cell free (ccff) DNA extracted from whole blood samples collected from women who are pregnant with a fetus previously determined to have a chromosomal abnormality. The NIPD result will be compared to the standard test results obtained from other test methods such as karyotype, FISH, QF-PCR, and/or any commercially available NIPD test.

Information on pregnant women undergoing non-invasive prenatal testing (NIPT) at one of the Obstetrix Medical Groups Outpatient Centers between January 2012 and June 2014 will be retrospectively gathered and an analysis of the impact and prevalence of NIPT. This will be compared to a control group of pregnant women in those same practices undergoing prenatal testing during the months of January 2010-July 2010.

The primary purpose of this study is to collect maternal blood samples from pregnant women to develop a non-invasive prenatal diagnostic test based on fetal DNA isolated from maternal blood.