alexa High Performance DNA Probes for Perinatal Detection of
ISSN: 2379-1764

Advanced Techniques in Biology & Medicine
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High Performance DNA Probes for Perinatal Detection of Numerical Chromosome Aberrations

Kalistyn H Lemke1, Jingly F Weier1,2, Heinz-Ulrich G Weier1 and Anna R Lawin-O'Brien3*
1Life Sciences Division, University of California, E.O. Lawrence Berkeley National Laboratory (LBNL), Berkeley, USA (KHL, JFW, HUW)
2Dermatopathology Service, School of Medicine, University of California, San Francisco, USA (JFW)
3Centre for Fetal Care, Queen Charlotte's and Chelsea Hospital, Imperial College Healthcare, London, UK (ARL)
Corresponding Author : Anna R Lawin-O'Brien
Centre for Fetal Care, Queen Charlotte's and Chelsea Hospital
Imperial College Healthcare NHS Trust, Du Cane Road
East Acton, London W12 0HS, UK
Tel: +447813642526
E-mail: [email protected]
Received: October 06, 2015; Accepted: November 26, 2015; Published: December 03, 2015
Citation: Lemke KH, Weier JF, Weier HUG, Lawin-O'Brien AR (2015) High Performance DNA Probes for Perinatal Detection of Numerical Chromosome Aberrations. Adv Tech Biol Med 3:155. doi:10.4172/2379-1764.1000155
Copyright: © 2015 Lemke KH, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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Abstract

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.

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