Placental Pathology in Down Syndrome–Associated Transient Abnormal Myelopoiesis

Abstract

Transient abnormal myelopoiesis is a hematopoietic disorder that occurs in up to 10% of neonates with Down syndrome. It is characterized by leukocytosis and the presence of circulating blast cells harboring truncating GATA1 mutations with variable multiorgan system involvement. Placental involvement of transient abnormal myelopoiesis is infrequently described. Placental examination and identifying features related to transient abnormal myelopoiesis could be one of the early, if not the only, means of diagnosis of this condition in affected stillbirths, premature infants, and a subset of asymptomatic neonates. This article provides an overview of the placental pathology in transient abnormal myelopoiesis with review of the literature, and also discusses the important differential diagnoses.

microsSpecific short tandem repeat loci detection in prenatal diagnosis of fetal chromosomal diseases

“…Clinically, chromosome-specific STR are selected as markers for amplification by QF-PCR. STR is repeated that are widespread in prokaryotic and eukaryotic genomes with core sequences of 2 to 7 nucleotides, with high polymorphism, low recombination rate, high information content, high heterozygosity, and easy and quick detection (25,26). Moreover, the simultaneous use of multiple STR specific for the same chromosome as markers can further improve the information content and diagnostic accuracy (27).…”