Prenatal Testing or Screening?

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...

Combined first trimester screen or noninvasive prenatal testing or both.

Aneuploidy screening by non‐invasive prenatal testing in twin pregnancy

OBJECTIVES To describe our experience with non-invasive prenatal testing (NIPT) in twin pregnancy. METHODS Two sets of maternal blood samples from twin pregnancies were analyzed at our laboratory using NIPT: 115 stored samples from pregnancies with known outcome (Clinical Study A) and 487 prospectively collected samples for which outcomes were requested from providers (Clinical Study B). NIPT...

Recent advances in prenatal genetic screening and testing

The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently intr...

Disability equality and prenatal testing: contradictory or compatible?

I. WHAT IS DISABILITY “REALLY” LIKE, OR HOW MISINFORMED ARE PEOPLE ANYWAY?.............................................................................................................. 318 A. Models of Disability ...................................................................................... 318 B. Disability and the Normal Opportunity Range........................................... 322...