Prenatal screening for chromosome abnormalities

Chromosome Abnormalities in Prenatal Diagnosis

Objective: To investigate antenatal detection the chromosome abnormalities in high risk pregnancies and correlation between karyotype analysis and FISH (Fluorescent In Situ Hybridization). Method: Were analyzed cytogenetic results from a total of 594 cases between 2008-2009. Amniotic fluid karyotyping and FISH have been offered to pregnant women with genetic risk, using the standard method and ...

Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities.

Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience.

OBJECTIVE To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA) over a 13-year period and correlate them to changes in the national prenatal screening policy. METHODS We retrospectively reviewed Down syndrome (DS) screening tests and fetal karyotypes obtained by prenatal invasive testing (IT) in our fetal medicine unit between January 1999 and Decembe...

Prenatal diagnosis of chromosome abnormalities: past, present, and future.

For decades, conventional chromosome analysis using G-banded karyotyping has been the gold standard for detecting cytogenetic abnormalities in fetuses for prenatal diagnosis and pregnancy loss. Although chromosome studies easily identify such chromosome abnormalities as aneuploidy (gain or loss of an entire chromosome), balanced rearrangements, and large unbalanced structural rearrangements, th...

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...