PMID- 30328630
OWN - NLM
STAT- MEDLINE
DCOM- 20190819
LR  - 20190819
IS  - 1097-0223 (Electronic)
IS  - 0197-3851 (Linking)
VI  - 38
IP  - 13
DP  - 2018 Dec
TI  - Interest of chromosomal microarray analysis in the prenatal diagnosis of fetal 
      intrauterine growth restriction.
PG  - 1111-1119
LID - 10.1002/pd.5372 [doi]
AB  - OBJECTIVE: The aim of this study is to evaluate the diagnostic utility of 
      prenatal diagnosis using the chromosomal microarray analysis (CMA) for fetuses 
      presenting with isolated or associated intrauterine growth restriction (IUGR). 
      METHOD: We retrospectively included all fetuses with IUGR referred for prenatal 
      testing and studied by rapid fluorescence in situ hybridization (FISH), 
      karyotype, and CMA. RESULTS: Among the 162 IUGR fetuses (78 associated and 84 
      isolated IUGR) included, 15 had an abnormal FISH result: 10 associated and five 
      isolated fetal IUGRs. Among the 143 fetuses studied by CMA, 10 (7%) presented 
      pathogenic copy number variations (CNVs). All 10 were in the associated fetal 
      IUGR group (10/65 or 15.4%; 95% confidence interval [CI]: 8.4%-26.2%) versus 0/78 
      in the isolated fetal IUGR group (95% CI: 0%-5.6%). Six fetuses (4.2%) carried 
      variants of unknown significance (VOUS) (three associated and three isolated 
      fetal IUGRs). CONCLUSION: Our study highlights the added value of CMA in the case 
      of associated fetal IUGR with an incremental yield of 6.1% (4/65) over 
      karyotyping. No pathogenic CNVs were reported in the isolated fetal IUGR group. 
      More studies must be conducted to determine when and whether CMA would be wisely 
      indicated in this population.
CI  - (c) 2018 John Wiley & Sons, Ltd.
FAU - Brun, Stephanie
AU  - Brun S
AUID- ORCID: 0000-0001-5923-4846
AD  - Centre Alienor d'Aquitaine Maternity, CHU Bordeaux, Bordeaux, France.
FAU - Pennamen, Perrine
AU  - Pennamen P
AD  - Service de Genetique Medicale, CHU Bordeaux, Bordeaux, France.
FAU - Mattuizzi, Aurelien
AU  - Mattuizzi A
AD  - Centre Alienor d'Aquitaine Maternity, CHU Bordeaux, Bordeaux, France.
FAU - Coatleven, Frederic
AU  - Coatleven F
AD  - Centre Alienor d'Aquitaine Maternity, CHU Bordeaux, Bordeaux, France.
FAU - Vuillaume, Marie Laure
AU  - Vuillaume ML
AD  - Service de Genetique Medicale, CHU Bordeaux, Bordeaux, France.
FAU - Lacombe, Didier
AU  - Lacombe D
AD  - Service de Genetique Medicale, CHU Bordeaux, Bordeaux, France.
AD  - Maladies Rares: Genetique et Metabolisme (MRGM), INSERM, University of Bordeaux, 
      Bordeaux, France.
FAU - Arveiler, Benoit
AU  - Arveiler B
AD  - Service de Genetique Medicale, CHU Bordeaux, Bordeaux, France.
AD  - Maladies Rares: Genetique et Metabolisme (MRGM), INSERM, University of Bordeaux, 
      Bordeaux, France.
FAU - Toutain, Jerome
AU  - Toutain J
AUID- ORCID: 0000-0003-1236-1551
AD  - Service de Genetique Medicale, CHU Bordeaux, Bordeaux, France.
FAU - Rooryck, Caroline
AU  - Rooryck C
AUID- ORCID: 0000-0002-9789-3591
AD  - Service de Genetique Medicale, CHU Bordeaux, Bordeaux, France.
AD  - Maladies Rares: Genetique et Metabolisme (MRGM), INSERM, University of Bordeaux, 
      Bordeaux, France.
LA  - eng
PT  - Journal Article
DEP - 20181122
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
MH  - Adult
MH  - Comparative Genomic Hybridization/*methods
MH  - DNA Copy Number Variations
MH  - Female
MH  - Fetal Growth Retardation/*genetics
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Karyotype
MH  - *Karyotyping
MH  - Microarray Analysis/*methods
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Retrospective Studies
MH  - Young Adult
EDAT- 2018/10/18 06:00
MHDA- 2019/08/20 06:00
CRDT- 2018/10/18 06:00
PHST- 2018/08/15 00:00 [received]
PHST- 2018/10/04 00:00 [revised]
PHST- 2018/10/05 00:00 [accepted]
PHST- 2018/10/18 06:00 [pubmed]
PHST- 2019/08/20 06:00 [medline]
PHST- 2018/10/18 06:00 [entrez]
AID - 10.1002/pd.5372 [doi]
PST - ppublish
SO  - Prenat Diagn. 2018 Dec;38(13):1111-1119. doi: 10.1002/pd.5372. Epub 2018 Nov 22.