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Sex Chromosome Aberrations clinical trials

View clinical trials related to Sex Chromosome Aberrations.

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NCT ID: NCT02381457 Completed - Clinical trials for Prader-Willi Syndrome

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

SMART
Start date: April 2015
Phase:
Study type: Observational [Patient Registry]

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.

NCT ID: NCT02278874 Completed - Trisomy 21 Clinical Trials

High Risk Multiple Gestation Study

Start date: August 2014
Phase:
Study type: Observational

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.

NCT ID: NCT02278536 Completed - Trisomy 21 Clinical Trials

Multiple Gestation Study

Start date: March 2013
Phase:
Study type: Observational

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.

NCT ID: NCT02109770 Completed - Trisomy 21 Clinical Trials

Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA

Microdel Triad
Start date: October 2012
Phase:
Study type: Observational

The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.

NCT ID: NCT01852708 Completed - Trisomy 21 Clinical Trials

Development of Non-invasive Prenatal Screening Test for Microdeletions Based on Fetal DNA Isolated From Maternal Blood

MAPS
Start date: November 2012
Phase:
Study type: Observational

The purpose of this study is to collect maternal blood samples from pregnant women carrying a fetus with a confirmed diagnosis of chromosomal abnormality or genetic disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on fetal DNA isolated from maternal blood.

NCT ID: NCT01574781 Completed - Clinical trials for Sex Chromosome Aberrations

Non-invasive Prenatal Diagnostic Validation Study

NIPD
Start date: September 2011
Phase: N/A
Study type: Observational

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.

NCT ID: NCT00471731 Completed - Menopause Clinical Trials

Dry Eye in Women With Turner Syndrome and Women With Premature Ovarian Failure

Start date: May 7, 2007
Phase: N/A
Study type: Observational

Premature ovarian failure (POF) is known to be associated with an increased risk of ocular surface disease (dry eye), likely due to the reduction of both estrogens and androgens seen in this condition. From preliminary data, we suspect that women with Turners syndrome (45, XO), a genetic abnormality that affects sex hormone levels, are also at increased risk of ocular surface disease. Comparing POF and TS women may allow us to distinguish different mechanisms for ocular surface disease, due to the different etiologies of hormonal (estrogen and androgen) alterations posed by POF and TS.