PMID- 21692086
OWN - NLM
STAT- MEDLINE
DCOM- 20111201
LR  - 20220408
IS  - 1097-0223 (Electronic)
IS  - 0197-3851 (Linking)
VI  - 31
IP  - 8
DP  - 2011 Aug
TI  - The development of a rapid assay for prenatal testing of common aneuploidies and 
      microdeletion syndromes.
PG  - 778-87
LID - 10.1002/pd.2766 [doi]
AB  - OBJECTIVE: To develop a novel, rapid prenatal assay for pregnancies with high 
      likelihood of normal karyotypes, using BACs-on-Beads() technology, a suspension 
      array-based multiplex assay that employs Luminex((R)) xMAP((R)) technology, for the 
      detection of gains and losses in chromosomal DNA. METHODS: Fifteen relatively 
      common microdeletions were selected that are not detectable, or may be missed, by 
      karyotyping and usually do not present with abnormal ultrasound findings. 
      Chromosomes 13, 18, 21, X, and Y were included. We validated the assay with 430 
      samples. RESULTS: All microdeletions and aneuploidies were correctly identified, 
      except for a 69,XXX incorrectly identified as a normal female and a male with 
       approximately 20% maternal cell contamination (MCC) that could not be distinguished from 
      69,XXY. MCC became apparent at 20 to 30%. Mosaicism was identified at 30 to 35% 
      abnormal cells. CONCLUSION: We have developed an alternative to fluorescence in 
      situ hybridization (FISH) aneuploidy screening and microarray analysis in 
      otherwise normal pregnancies undergoing invasive testing. We demonstrated that 
      the assay will detect all microdeletions and aneuploidies of regions covered on 
      the assay. We developed analytical software that displays results for 
      well-characterized syndromes but not abnormalities of unclear clinical 
      significance. This assay is likely to be preferred by women seeking testing 
      beyond routine karyotyping but who desire more information than provided by 
      aneuploidy FISH.
CI  - Copyright (c) 2011 John Wiley & Sons, Ltd.
FAU - Shaffer, Lisa G
AU  - Shaffer LG
AD  - Signature Genomic Laboratories, Spokane, WA 99207, USA. 
      lisa.shaffer@perkinelmer.com
FAU - Coppinger, Justine
AU  - Coppinger J
FAU - Morton, S Annie
AU  - Morton SA
FAU - Alliman, Sarah
AU  - Alliman S
FAU - Burleson, Jessica
AU  - Burleson J
FAU - Traylor, Ryan
AU  - Traylor R
FAU - Walker, Cathryn
AU  - Walker C
FAU - Byerly, Steve
AU  - Byerly S
FAU - Lamb, Allen N
AU  - Lamb AN
FAU - Schultz, Roger
AU  - Schultz R
FAU - Ravnan, J Britt
AU  - Ravnan JB
FAU - Kashork, Catherine D
AU  - Kashork CD
FAU - Torchia, Beth S
AU  - Torchia BS
FAU - Sulpizio, Scott
AU  - Sulpizio S
FAU - Sundin, Kyle
AU  - Sundin K
FAU - Schermer, Mack
AU  - Schermer M
FAU - Adler, Karl
AU  - Adler K
FAU - Dallaire, Stephanie
AU  - Dallaire S
FAU - Ballif, Blake C
AU  - Ballif BC
LA  - eng
PT  - Journal Article
PT  - Validation Study
DEP - 20110621
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - *Aneuploidy
MH  - Chromosome Disorders/*diagnosis
MH  - Female
MH  - Humans
MH  - Microarray Analysis/*methods
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
EDAT- 2011/06/22 06:00
MHDA- 2011/12/13 00:00
CRDT- 2011/06/22 06:00
PHST- 2011/01/07 00:00 [received]
PHST- 2011/03/11 00:00 [revised]
PHST- 2011/03/25 00:00 [accepted]
PHST- 2011/06/22 06:00 [entrez]
PHST- 2011/06/22 06:00 [pubmed]
PHST- 2011/12/13 00:00 [medline]
AID - 10.1002/pd.2766 [doi]
PST - ppublish
SO  - Prenat Diagn. 2011 Aug;31(8):778-87. doi: 10.1002/pd.2766. Epub 2011 Jun 21.