OBJECTIVES To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples. METHODS We validated a NIPT protocol for cell-free fetal DNA sequencing from maternal plasma for the detection of trisomy 13, 18 and 21 on a semiconductor sequencing instrument...

OBJECTIVE To re-evaluate in a larger cohort of patients if the maternal serum biochemical markers used in first trimester aneuploidy screening have the same marker distributions in pregnancies with a previous history of aneuploidy compared with those that have no previous history. METHODS Information related to previous pregnancy history is routinely recorded as part of first trimester screen...

OBJECTIVE The purpose of this study was to analyze humeral length (HL) in a normal population and to compare that with HL in a population of fetuses with trisomy 21 to determine the most efficient discriminating parameters for diagnostic accuracy. METHODS A nested case-control study comparing HLs from a normal population and a population of fetuses with trisomy 21 was conducted. Humeral lengt...

OBJECTIVES AND METHODS To investigate the impact of prenatal diagnosis on trisomy 21 live births, we collected all prenatal and postnatal trisomy 21 cases (n = 1096) in the eastern half of Switzerland for the years 1980-1996. RESULTS Despite increasing prenatal detection rates of trisomy 21 foetuses (an increase of 169% in the last 5 versus the first 5 years of the study period) and subsequen...

Objectives: To investigate the value of second-trimester ultrasound assessment of fetal nasal bone (NB) in predicting trisomy 21. Methods: A retrospective analysis was performed on the test results of pregnant women who received amniocentesis besides their anomaly scan due to various reasons at the Prenatal Diagnosis Center of Fudan University Obstetrics & Gynecology Hospital from January 2012 ...

Trisomy 21 is associated with hematopoietic abnormalities in the fetal liver, a preleukemic condition termed transient myeloproliferative disorder, and increased incidence of acute megakaryoblastic leukemia. Human trisomy 21 pluripotent cells of various origins, human embryonic stem (hES), and induced pluripotent stem (iPS) cells, were differentiated in vitro as a model to recapitulate the effe...

OBJECTIVES To use multiple regression analysis to define the contribution of maternal variables that influence the measured concentration of free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A), and the interaction between these covariates, in first-trimester biochemical screening for trisomy 21. METHODS This was a multicenter study of prospecti...

OBJECTIVE To describe a case of young-onset Alzheimer disease (AD) due to mosaicism for trisomy 21. DESIGN Case report of a single patient. SETTING Tertiary referral dementia clinic. PATIENT A 55-year-old man with a mild degree of developmental delay but no previous diagnosis of Down syndrome and only minimal physical manifestations of Down syndrome presented with gradually progressive co...