PMID- 20936637
OWN - NLM
STAT- MEDLINE
DCOM- 20110331
LR  - 20191210
IS  - 1097-0223 (Electronic)
IS  - 0197-3851 (Linking)
VI  - 30
IP  - 12-13
DP  - 2010 Dec
TI  - Subtelomeric MLPA: is it really useful in prenatal diagnosis?
PG  - 1165-9
LID - 10.1002/pd.2635 [doi]
AB  - OBJECTIVE: To evaluate the usefulness of subtelomeric multiplex 
      ligation-dependent probe amplification (MLPA) in both the detection of 
      subtelomeric rearrangements in fetuses with ultrasound abnormalities and normal 
      karyotype, and the characterization of cytogenetically detectable rearrangements. 
      METHOD: We studied by subtelomeric MLPA 229 pregnancies with ultrasound findings 
      and normal karyotype (Group 1) and five pregnancies with a cytogenetically 
      visible but not microscopically characterizable rearrangement (Group 2). The 
      detected imbalances were confirmed by fluorescence in situ hybridization (FISH) 
      and parents were also studied. RESULTS: In Group 1, two clinically relevant 
      subtelomeric imbalances (14qter deletion and 20pter deletion) and one 
      subtelomeric imbalance of uncertain significance (X/Ypter duplication) were 
      diagnosed, showing a detection rate of cryptic subtelomeric imbalances in these 
      pregnancies of 1.3%. However, only 14qter deletion seems to be clearly associated 
      with the observed prenatal findings. In Group 2, MLPA contributed to the precise 
      description of the chromosome abnormalities. CONCLUSION: The low detection rate 
      of subtelomeric imbalances and the poor genotype-phenotype correlations in 
      pregnancies with ultrasound abnormalities and normal karyotype suggest that 
      subtelomeric MLPA is not a crucial tool in the prenatal diagnosis of these cases. 
      However, our work provides evidence that MLPA is very useful for the 
      characterization of unbalanced karyotypes. Copyright (c) 2010 John Wiley & Sons, 
      Ltd.
FAU - Mademont-Soler, Irene
AU  - Mademont-Soler I
AD  - Servei de Bioquimica i Genetica Molecular, Hospital Clinic, Barcelona, Spain.
FAU - Morales, Carme
AU  - Morales C
FAU - Bruguera, Jordi
AU  - Bruguera J
FAU - Madrigal, Irene
AU  - Madrigal I
FAU - Clusellas, Nuria
AU  - Clusellas N
FAU - Margarit, Ester
AU  - Margarit E
FAU - Sanchez, Aurora
AU  - Sanchez A
FAU - Soler, Anna
AU  - Soler A
LA  - eng
PT  - Comparative Study
PT  - Evaluation Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Chromosome Aberrations
MH  - Congenital Abnormalities/diagnostic imaging/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Ligase Chain Reaction/*methods
MH  - Male
MH  - Predictive Value of Tests
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Sensitivity and Specificity
MH  - Telomere/*genetics
MH  - Ultrasonography
EDAT- 2010/10/12 06:00
MHDA- 2011/04/01 06:00
CRDT- 2010/10/12 06:00
PHST- 2010/10/12 06:00 [entrez]
PHST- 2010/10/12 06:00 [pubmed]
PHST- 2011/04/01 06:00 [medline]
AID - 10.1002/pd.2635 [doi]
PST - ppublish
SO  - Prenat Diagn. 2010 Dec;30(12-13):1165-9. doi: 10.1002/pd.2635.