Screening for fetal aneuploidies at 11 to 13 weeks

KH Nicolaides - Prenatal diagnosis, 2011 - Wiley Online Library
Effective screening for major aneuploidies can be provided in the first trimester of
pregnancy. Screening by a combination of fetal nuchal translucency and maternal serum …

Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities

KH Nicolaides - American journal of obstetrics and gynecology, 2004 - Elsevier
There is extensive evidence that effective screening for major chromosomal abnormalities
can be provided in the first trimester of pregnancy. Prospective studies in a total of 200,868 …

DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study

GE Palomaki, EM Kloza, GM Lambert-Messerlian… - Genetics in …, 2011 - nature.com
Purpose: Prenatal screening for Down syndrome has improved, but the number of resulting
invasive diagnostic procedures remains problematic. Measurement of circulating cell-free …

Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting

M Ehrich, C Deciu, T Zwiefelhofer, JA Tynan… - American journal of …, 2011 - Elsevier
OBJECTIVE: We sought to evaluate a multiplexed massively parallel shotgun sequencing
assay for noninvasive trisomy 21 detection using circulating cell-free fetal DNA. STUDY …

First-trimester or second-trimester screening, or both, for Down's syndrome

FD Malone, JA Canick, RH Ball… - … England Journal of …, 2005 - Mass Medical Soc
Background It is uncertain how best to screen pregnant women for the presence of fetal
Down's syndrome: to perform first-trimester screening, to perform second-trimester …

Pregnancy-associated plasma protein A as a marker of acute coronary syndromes

A Bayes-Genis, CA Conover… - … England Journal of …, 2001 - Mass Medical Soc
Background Circulating markers indicating the instability of atherosclerotic plaques could
have diagnostic value in unstable angina or acute myocardial infarction. We evaluated …

First-trimester screening for trisomies 21 and 18

R Wapner, E Thom, JL Simpson… - … England Journal of …, 2003 - Mass Medical Soc
Background Screening for aneuploid pregnancies is routinely performed after 15 weeks of
gestation and has a sensitivity of approximately 65 percent, with a false positive rate of 5 …

Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data

DW Bianchi, JL Simpson, LG Jackson… - … in Affiliation With the …, 2002 - Wiley Online Library
Abstract Objectives The National Institute of Child Health and Human Development Fetal
Cell Isolation Study (NIFTY) is a prospective, multicenter clinical project to develop non …

Human matrix metalloproteinases: an ubiquitarian class of enzymes involved in several pathological processes

D Sbardella, GF Fasciglione, M Gioia, C Ciaccio… - Molecular aspects of …, 2012 - Elsevier
Human matrix metalloproteinases (MMPs) belong to the M10 family of the MA clan of
endopeptidases. They are ubiquitarian enzymes, structurally characterized by an active site …

Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21

EA Papageorgiou, A Karagrigoriou, E Tsaliki… - Nature medicine, 2011 - nature.com
The trials performed worldwide toward noninvasive prenatal diagnosis (NIPD) of Down's
syndrome (or trisomy 21) have shown the commercial and medical potential of NIPD …