OBJECTIVE To investigate the performance of first-trimester screening for aneuploidies by including assessment of the fetal nasal bone in the combined test of maternal age, fetal nuchal translucency (NT) thickness, fetal heart rate (FHR) and serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A). METHODS Screening by the combined test was pe...

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...

The authors describe a male newborn with multiple congenital anomalies; craniofacial dysmorphism, bilateral cleft palate and lip, ambiguous external genitalia with absence of phallus, ventricular septal defect, agenesis of olfactory bulbs, and presence of small round cells simulating migration defect in the cerebellar white matter. Cytogenetic study demonstrated a chromosomal constitution of 47...

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...

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 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 ...

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...