OBJECTIVES To derive a model and examine the performance of first-trimester screening for trisomy 18 by maternal age, fetal nuchal translucency (NT) thickness, and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A). METHODS Prospective combined screening for trisomy 21 was performed at 11 + 0 to 13 + 6 weeks in 56 893 singleton ...

Background: Myelodysplastic syndromes (MDS) are subtypes of hematological disorders which are known to have partial bone marrow dysplasia, peripheral cytopenia, and later on an increased risk to develop acute myeloid leukemia. Chromosomal aberrations are detected in ~50% of cases of de novo MDS cases and the most common chromosomal abnormalities of this entity include complete or partial monoso...

OBJECTIVE To determine the value of measuring maxillary length at 11-14 weeks of gestation in screening for trisomy 21. METHODS In 970 fetuses ultrasound examination was carried out for measurement of crown-rump length (CRL), nuchal translucency and maxillary length, and to determine if the nasal bone was present or absent, immediately before chorionic villus sampling for karyotyping at 11-14...