PMID- 18781187
OWN - NLM
STAT- MEDLINE
DCOM- 20090205
LR  - 20211020
IS  - 1476-5438 (Electronic)
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 17
IP  - 1
DP  - 2009 Jan
TI  - Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: 
      a prospective study of 4000 amniotic fluid samples.
PG  - 112-21
LID - 10.1038/ejhg.2008.161 [doi]
AB  - The introduction of prenatal screening requires rapid high-throughput diagnosis 
      of common aneuploidies. Multiplex ligation-dependent probe amplification (MLPA) 
      allows for quick, easily automated multiplex testing of these aneuploidies in one 
      polymerase chain reaction. We performed a large prospective study using MLPA on 
      4000 amniotic fluid (AF) samples including all indications and compared its value 
      to karyotyping and fluorescence in situ hybridization (FISH). MLPA can reliably 
      determine common aneuploidies with 100% sensitivity and 100% specificity. 
      Moreover, some mosaic cases and structural chromosome aberrations were detected 
      as well. In cases of a male fetus, triploidies can be detected by an aberrant 
      pattern of probe signals, which mimics maternal cell contamination (MCC). 
      Macroscopic blood contamination was encountered in 3.2% of the AF samples. In 20% 
      of these samples, an MLPA pattern was found consistent with MCC, although there 
      were no false negatives of the most common aneuploidies. As the vast majority of 
      inconclusive results (1.7%) is due to potential MCC, we designed a protocol in 
      which we determine whether MLPA can be performed on blood-contaminated AF samples 
      by testing if blood is of fetal origin. Then, the number of inconclusive results 
      could be theoretically reduced to 0.05%. We propose an alternative interpretation 
      of relative probe signals for rapid aneuploidy diagnosis (RAD). We discuss the 
      value of MLPA for the detection of (submicroscopic) structural chromosome 
      anomalies. MLPA is a reliable method that can replace FISH and could be used as a 
      stand-alone test for RAD instead of karyotyping.
FAU - Van Opstal, Diane
AU  - Van Opstal D
AD  - Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The 
      Netherlands.
FAU - Boter, Marjan
AU  - Boter M
FAU - de Jong, Danielle
AU  - de Jong D
FAU - van den Berg, Cardi
AU  - van den Berg C
FAU - Bruggenwirth, Hennie T
AU  - Bruggenwirth HT
FAU - Wildschut, Hajo I J
AU  - Wildschut HI
FAU - de Klein, Annelies
AU  - de Klein A
FAU - Galjaard, Robert-Jan H
AU  - Galjaard RJ
LA  - eng
PT  - Journal Article
DEP - 20080910
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
SB  - IM
MH  - Amniocentesis/methods
MH  - *Amniotic Fluid
MH  - *Aneuploidy
MH  - False Negative Reactions
MH  - Female
MH  - Genetic Testing/*methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - *Molecular Probe Techniques
MH  - Mosaicism
MH  - Nucleic Acid Amplification Techniques/*methods
MH  - Pregnancy
MH  - Sensitivity and Specificity
MH  - Trisomy/diagnosis
PMC - PMC2985961
EDAT- 2008/09/11 09:00
MHDA- 2009/02/06 09:00
PMCR- 2009/01/01
CRDT- 2008/09/11 09:00
PHST- 2008/09/11 09:00 [entrez]
PHST- 2008/09/11 09:00 [pubmed]
PHST- 2009/02/06 09:00 [medline]
PHST- 2009/01/01 00:00 [pmc-release]
AID - ejhg2008161 [pii]
AID - 10.1038/ejhg.2008.161 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2009 Jan;17(1):112-21. doi: 10.1038/ejhg.2008.161. Epub 2008 Sep 
      10.