OBJECTIVE To examine the levels of free beta-human chorionic gonadotrophin (free beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) in second-trimester maternal serum from pregnancies affected by trisomy 13 and compare these with the known reduced levels of these markers in first-trimester cases in an attempt to better understand the pathophysiology of changes in marker levels in chro...

To date, neither the clinical significance of isolated trisomy 8, the most frequent trisomy in acute myeloid leukemia (AML), nor the effect of age within a single cytogenetic group has been examined. We report a large cohort of adult trisomy 8 patients and examine whether increasing age within a homogeneous cytogenetic group alters clinical outcome. Characteristics and outcome of patients with ...

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 determine the reproducibility of diagnosing tricuspid regurgitation (TR) at 11 + 0 to 13 + 6 weeks' gestation, to examine further the relationship between TR and the presence of chromosomal defects and to calculate the likelihood ratios for trisomy 21 and trisomy 18 in fetuses with TR. METHODS Pulsed wave Doppler of flow across the tricuspid valve was carried out by 12 obstetrici...

Six cases of translocation trisomy for the distal half of the short arm of a number 9 chromosome and four asymptomatic balanced translocation carriers are presented in a three-generation pedigree. The clinical features are remarkably similar to those recently recognized and increasingly reported in full short arm (9p) trisomy and should be considered a modification of the same syndrome. In addi...

This is the first case report of trisomy 13 complicated by massive fetomaternal hemorrhage (FMH). A pale male infant weighing 2,950 g was delivered with low Apgar scores by emergency cesarean section due to non-reassuring fetal status. The umbilical arterial pH and hemoglobin level were 6.815 and 6.9 g/dL (normal: 13 - 22 g/dL), respectively. The maternal hemoglobin-F and serum alpha-fetoprotei...

We describe a novel case of simultaneous karyotypic abnormalities of isochromosome 17q and trisomy 14 in a patient with myelodysplastic syndrome (MDS) in leukemic transformation. A 66-yr-old Korean man was admitted to Severance Hospital for evaluation of pancytopenia. On the basis of bone marrow studies at 3 different stages, he was diagnosed with MDS in leukemic transformation. Chromosome kary...

BACKGROUND Chromosomal abnormality is a common cause of congenital anomalies, psychiatric disorders, and mental retardation. However, the double trisomy 48,XXX,+18 is a rare chromosome abnormality. METHODS Case report and literature review. RESULTS A 7-hour-old girl presented to our unit because of poor response after birth. She presented with multiple dysmorphic features, including small f...

PURPOSE To determine how a single nucleotide polymorphism (SNP)- and informatics-based non-invasive prenatal aneuploidy test performs in detecting trisomy 13. METHODS Seventeen trisomy 13 and 51 age-matched euploid samples, randomly selected from a larger cohort, were analyzed. Cell-free DNA was isolated from maternal plasma, amplified in a single multiplex polymerase chain reaction assay tha...

We directly sequenced cell-free DNA with high-throughput shotgun sequencing technology from plasma of pregnant women, obtaining, on average, 5 million sequence tags per patient sample. This enabled us to measure the over- and underrepresentation of chromosomes from an aneuploid fetus. The sequencing approach is polymorphism-independent and therefore universally applicable for the noninvasive de...