We report on a case in which cell-free fetal DNA was positive for trisomy 13 most likely due to confined placental mosaicism. Cell-free fetal DNA testing analyzes DNA derived from placental ...

A noninvasive, sequencing-based approach for detecting chromosomal abnormalities in the developing fetus is safer and more informative in some cases than traditional methods, according to a new study.

JA Rosenfeld is an employee of Signature Genomic Laboratories, a subsidiary of PerkinElmer, Inc. The authors have no other relevant affiliations or financial involvement with any organization or ...

A national, U.S. federally funded study has found that testing a developing fetus’ DNA through chromosomal microarray (CMA) provides more information about potential disorders than does the standard ...

THIS study was stimulated by the classic discoveries of the association of chromosomal aberrations with several syndromes of multiple congenital anomalies 1–5 followed by a rapid expansion of research ...

Photograph of a karyotype - the collection of chromosomes within each cell of an organism - from a male mouse engineered by Johns Hopkins Medicine researchers to model Down syndrome in a human. The ...

Chromosomes are tightly coiled structures in each of your cells that contain DNA, the code for all life. DNA is organized in segments on chromosomes called genes. Humans typically have 46 chromosomes ...