OBJECTIVE To develop a microarray-based method for noninvasive prenatal testing (NIPT) and compare it with next-generation sequencing. METHODS Maternal plasma from 878 pregnant women, including 187 trisomy cases (18 trisomy 13, 37 trisomy 18, 132 trisomy 21), was evaluated for trisomy risk. Targeted chromosomes were analyzed using Digital Analysis of Selected Regions (DANSR™) assays. DANSR pr...

BACKGROUND Trisomies 13, 18, and 21 account for the majority of chromosomal aneuploidies detected in prenatal diagnosis. Diagnosis of these trisomies relies mainly on karyotype analysis. Several molecular methods have been developed for trisomy detection, but performance or throughput limitations of these methods currently constrain their use in routine testing. METHODS We developed multiplex...

0

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...

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...

BACKGROUND Mosaic trisomy 18 has a wide phenotypic spectrum ranging from near normal to early death. We report two cases that add to our knowledge of the disease. METHODS Patient 1 was a girl with a tracheoesophageal fistula, horse-shoe kidneys and a ventricular septal defect. Karyotyping of her lymphocytes showed complete trisomy 18. Due to her milder phenotypes, skin fibroblasts were karyot...

Constitutional trisomy 18 causes Edwards syndrome, which is characterized by intellectual disability and a particular set of malformations. Although this condition carries high mortality during prenatal and early postnatal life, some of the rare infants who survive the first months develop benign and malignant tumors. To determine the tumor profile associated with Edwards syndrome, we performed...

The care of patients with trisomy 13 and 18 is a source of significant controversy. While these conditions are life limiting, indisputable data refutes the notion that these conditions are lethal or incompatible with life. Despite such evidence, arguments of beneficence, quality of life and limited resources are invoked to make the case to limit care to trisomy children. Lessons learned in our ...