Testing and screening for chromosome abnormalities

Lysergide and chromosome abnormalities.

Screening for Chromosomal Abnormalities by First Trimester Combined Screening and Noninvasive Prenatal Testing Screening auf Chromosomenstörungen mittels Ersttrimester-Screening und non-invasive prenatal Testing

Purpose: To examine combined first trimester screening (FTS), noninvasive prenatal testing (NIPT) and a two-step policy that combines FTS and NIPT in screening for aneuploidy. Materials and Methods: Retrospective study involving 21052 pregnancies where FTS was performed at the Praxis Praenatal.de in Duesseldorf, Germany. In each case, the sum risk of trisomy 21, 18 and 13 was computed. We assum...

Ethical and practical challenges in providing noninvasive prenatal testing for chromosome abnormalities: an update.

PURPOSE OF REVIEW Noninvasive prenatal testing (NIPT) through the analysis of cell-free DNA in maternal plasma has rapidly changed screening for fetal chromosome abnormalities. We review practical and ethical challenges associated with the transition, progress in their resolution, and identify new emerging difficulties. RECENT FINDINGS NIPT is an advanced screening test for trisomies 21, 18, ...

Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues

Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening) was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be in...

Numerical and structural chromosome abnormalities

| Genetic instability, which includes both numerical and structural chromosomal abnormalities, is a hallmark of cancer. Whereas the structural chromosome rearrangements have received substantial attention, the role of whole-chromosome aneuploidy in cancer is much less well-understood. Here we review recent progress in understanding the roles of whole-chromosome aneuploidy in cancer, including t...