OBJECTIVE This study was undertaken to evaluate the performance of a 1-stop clinic for first-trimester assessment of risk (OSCAR) for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) thickness, and maternal serum-free ss- human chorionic gonadotrophin (hCG) and pregnancy-associated plasma protein-A (PAPP-A). STUDY DESIGN OSCAR was carried out in 30,564 pregnancies a...

Transient myeloproliferative disorder (TMD) is a leukemia type that occurs typically in newborns. In Down syndrome, TMD is referred to as transient abnormal myelopoiesis (TAM).32 Recently, transientness has also been reported in acute myeloid leukemia patients with germline trisomy 21 mosaicism, and even in cases with somatic trisomy 21, with or without GATA1 mutations. TMD cases without trisom...

Children with trisomy 21 display atypical manual skills that change to some extent during development. We examined grasp characteristics and their development in 35 children with trisomy 21, aged 4-18 years, who performed simple manual tasks (two manual tasks of the Movement Assessment Battery for Children, and grasping of five wooden blocks whose size was determined by their hand size). The ag...

PURPOSE To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition. METHODS A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Tea...

Double aneuploidy in which an extra sex chromosome coexists with autosomal trisomy was first reported in a child with trisomy 21 and XXY sex chromosomes (Ford, Jones, Miller, Mittwoch, Penrose, Ridler, and Shapiro, 1959); since then XXX trisomy 21 (Day, Wright, Koons, and Quigley, 1963; Yunis, Hook, and Alter, 1964), XYY trisomy 21 (Verresen and van den Berghe, 1965), XXX trisomy 18 (Uchida and...

OBJECTIVE To examine the association between maternal serum levels of thyroid stimulating hormone (TSH) and free β-human chorionic gonadotrophin (free β-hCG) in trisomy 21, trisomy 18 and euploid pregnancies at 11-13 weeks and investigate the potential value of TSH in first-trimester screening for aneuploidies. METHODS Maternal serum TSH and free β-hCG levels at 11-13 weeks in 25 trisomy 21 a...

BACKGROUND The pathologic features of Down syndrome are assumed to be the result of over-expression of genes located on chromosome 21 and/or a more global transcriptional misregulation that crosses chromosomal borders. METHODS To address this issue, four RNA samples from trisomy 21 placentas and four samples from normal first trimester pregnancies were analyzed using Affymetrix U95v2 microarr...

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...