PMID- 26855976
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
VI  - 3
IP  - 3
DP  - 2015 Nov
TI  - High Performance DNA Probes for Perinatal Detection of Numerical Chromosome 
      Aberrations.
LID - 155 [pii]
AB  - 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.
FAU - Lemke, Kalistyn H
AU  - Lemke KH
AD  - Life Sciences Division, University of California, E.O. Lawrence Berkeley National 
      Laboratory (LBNL), Berkeley, USA.
FAU - Weier, Jingly F
AU  - Weier JF
AD  - Life Sciences Division, University of California, E.O. Lawrence Berkeley National 
      Laboratory (LBNL), Berkeley, USA; Dermatopathology Service, School of Medicine, 
      University of California, San Francisco, USA.
FAU - Weier, Heinz-Ulrich G
AU  - Weier HG
AD  - Life Sciences Division, University of California, E.O. Lawrence Berkeley National 
      Laboratory (LBNL), Berkeley, USA.
FAU - Lawin-O'Brien, Anna R
AU  - Lawin-O'Brien AR
AD  - Centre for Fetal Care, Queen Charlotte's and Chelsea Hospital, Imperial College 
      Healthcare, London, UK.
LA  - eng
GR  - R21 CA168345/CA/NCI NIH HHS/United States
PT  - Journal Article
DEP - 20151203
PL  - United States
TA  - Adv Tech Biol Med
JT  - Advanced techniques in biology & medicine
JID - 101609801
PMC - PMC4739796
MID - NIHMS749974
OTO - NOTNLM
OT  - Aneuploidy
OT  - Chromosomal imbalance
OT  - DNA probes
OT  - Fluorescence in situ hybridization (FISH)
OT  - Molecular cytogenetics
OT  - Perinatal diagnosis
OT  - Pregnancy
EDAT- 2016/02/09 06:00
MHDA- 2016/02/09 06:01
PMCR- 2016/02/03
CRDT- 2016/02/09 06:00
PHST- 2016/02/09 06:00 [entrez]
PHST- 2016/02/09 06:00 [pubmed]
PHST- 2016/02/09 06:01 [medline]
PHST- 2016/02/03 00:00 [pmc-release]
AID - 155 [pii]
AID - 10.4172/2379-1764.1000155 [doi]
PST - ppublish
SO  - Adv Tech Biol Med. 2015 Nov;3(3):155. doi: 10.4172/2379-1764.1000155. Epub 2015 
      Dec 3.