Massively parallel sequencing (MPS) of cell-free fetal DNA from maternal plasma has revolutionized our ability to perform noninvasive prenatal diagnosis. This approach avoids the risk of fetal loss associated with more invasive diagnostic procedures. The present study developed an effective method for noninvasive prenatal diagnosis of common chromosomal aneuploidies using a benchtop semiconduct...

AML1/RUNX1 is implicated in leukemogenesis on the basis of the AML1-ETO fusion transcript as well as somatic mutations in its DNA-binding domain. Somatic mutations in RUNX1 are preferentially detected in acute myeloid leukemia (AML) M0, myeloid malignancies with acquired trisomy 21, and certain myelodysplastic syndrome (MDS) cases. By correlating the presence of RUNX1 mutations with cytogenetic...

OBJECTIVE To compare the maternal serum concentration of placental growth factor-1 (PlGF-1) and PlGF-2 at 11-13 weeks' gestation in normal pregnancies and in those complicated by preeclampsia (PE), delivery of small for gestational age (SGA) neonates and fetal trisomies 21, 18 and 13. METHODS Serum PlGF-1 and PlGF-2 were measured in 270 pathological pregnancies (PE, n = 80; SGA, n = 80; triso...

OBJECTIVE To evaluate the correlation between reversed a-wave in ductus venosus at 16-20 weeks' gestation and trisomy 21 and adverse perinatal outcomes. MATERIALS AND METHODS Our study included 174 pregnant women who were under follow-up at a tertiary center between May and September 2010. Ductus venosus Doppler (DVD) measurements were obtained throughout the 6-month period from women who und...

In 42 cases of trisomy 13 at 10-14 weeks of gestation, compared with 947 controls, the median multiple of the median (MoM) of maternal serum free beta-human chorionic gonadotrophin (beta-hCG) and pregnancy associated plasma protein A (PAPP-A) was significantly decreased (0.506 MoM and 0.248 MoM respectively), whilst fetal nuchal translucency was increased (2.872 MoM). In 38% and 71% of cases of...

Our objective was to determine if whole genome amplification (WGA) provides suitable DNA for qPCR-based genotyping for human embryos. Single blastomeres (Day 3) or trophoblastic cells (Day 5) were isolated from 342 embryos for WGA. Comparative Genomic Hybridization determined embryo sex as well as Trisomy 18 or Trisomy 21. To determine the embryo's sex, qPCR melting curve analysis for SRY and D...

Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism,...

Four cases of canine lymphoma are presented, including histological examination and cytogenetic investigation. The first case showed a derivative chromosome 13, the second case showed a clonal trisomy 8 and the third case showed a complex karyotype with a clonal trisomy 13 and additional clonal trisomies of the chromosomes 20, 30 and 37, as well as a non-clonal tetrasomy 9. Case four showed a s...

BACKGROUND It has been suggested that an increase in oxidative stress in individuals with Down syndrome (DS) may cause adverse effects in the cell membranes through the oxidation of polyunsatured fatty acids. METHODS We examined erythrocyte malondialdehyde (MDA) levels in 100 individuals of both sexes (34 males and 66 females) with DS, aged from newborn to 29 years. The cytogenetic analysis r...

Human confined placental mosaicism (CPM), where the placental trophoblast is mosaic for a chromosome abnormality but the fetus is chromosomally normal, can cause problems for prenatal diagnosis, but its causes are poorly understood. Tetraploid<-->diploid chimeras provide a model for the development of one type of CPM, but animal models for other types of restricted mosaicism are needed. The obj...