High Performance DNA Probes for Perinatal Detection of Numerical Chromosome Aberrations

Lemke, Kalistyn H.; Weier, Jingly F.; Ulrich G, Heinz; Lawin-O'Brien, Anna R.

doi:10.4172/2379-1764.1000155

High Performance DNA Probes for Perinatal Detection of Numerical Chromosome Aberrations

Journal Article · Mon Nov 30 00:00:00 EST 2015 · Advanced Techniques in Biology & Medicine

DOI:https://doi.org/10.4172/2379-1764.1000155· OSTI ID:1629219

Lemke, Kalistyn H. ^[1]; Weier, Jingly F. ^[2]; Ulrich G, Heinz ^[3]; Lawin-O'Brien, Anna R. ^[4]

Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States); DOE/OSTI
Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States); University of California, San Francisco, CA (United States)
Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States)
Imperial College, London (United Kingdom)

Human reproduction is a tightly controlled process of stepwise evolution with multiple, mostly yet unknown milestones and checkpoints. Healthy halpoid gametes have to be produced by the parents, which will fuse to form the diploid zygote that implants in the female uterus and grows to become first an embryo, then a fetus and finally matures into a newborn. There are several known risk factors that interfere with normal production of gametes, spermatocytes or oocytes, and often cause embryonic mortality and fetal demise at an early stage. Yet some embryos with chomosomal abnormalities can develop beyond the critical first trimester of pregnancy and, while those with supernumary chromosomes in their hyperdiploid cells will be spontaneously aborted, a small fraction of fetuses with an extra chromosome continues to grow to term and will be delivered as a liveborn baby. While minor clinical symptoms displayed by children with trisomies are manageable for many parents, the burden of caring for a child with numerical chromosome abnormalities can be overwhelming to partners or individual families. It also poses a significant financial burden to the society and poses ethical dilemma. In this communication, we will review the progress that has been made in the development of molecular techniques to test individual fetal cells for chromosomal imbalances. We will focus our discussion on the direct visualization of chromosome-specific DNA sequences in live or fixed specimens using fluorescence in situ hybridization (FISH) and, more specifically, talk about the groundbreaking progress that in recent years has been achieved towards an improved diagnosis with novel, chromosome-specific DNA probes.

View Accepted Manuscript (DOE)

Research Organization:: Lawrence Berkeley National Laboratory (LBNL), Berkeley, CA (United States)

Sponsoring Organization:: USDOE Office of Science (SC), Biological and Environmental Research (BER). Biological Systems Science Division

Grant/Contract Number:: AC02-05CH11231

OSTI ID:: 1629219

Journal Information:: Advanced Techniques in Biology & Medicine, Journal Name: Advanced Techniques in Biology & Medicine Journal Issue: 03 Vol. 03; ISSN 2379-1764

Publisher:: Longdom PublishingCopyright Statement

Country of Publication:: United States

Language:: English

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Related Subjects

Fluorescence in situ hybridization (FISH)
59 BASIC BIOLOGICAL SCIENCES
DNA probes
aneuploidy
chromosomal imbalance
molecular cytogenetics
perinatal diagnosis
pregnancy

High Performance DNA Probes for Perinatal Detection of Numerical Chromosome Aberrations

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