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Prenatal diagnosis: array comparative genomic hybridization in fetuses with abnormal sonographic findings.
MedLine Citation:
PMID:  23590624     Owner:  NLM     Status:  Publisher    
OBJECTIVE: To evaluate the clinical value of a high resolution whole-genome array method for examination of genomic imbalances in prenatal samples (46 amniotic fluid, 17 chorionic villus, and 26 products of conception) from fetuses with abnormal ultrasound, in a clinical setting where more than 90% of pregnant women receive 1(st) trimester combined screening and a 2(nd) trimester anomaly scan. DESIGN: Cross-sectional study. SETTING: Fetal medicine units (national health care system) in Central and North Denmark Regions from March 2009 to April 2012. SAMPLES: Eighty-nine samples obtained at gestational weeks 11.5 - 35.0 (mean 19.3), either during ongoing pregnancy or after termination. METHODS: DNA was extracted directly from amniotic fluid cells and chorionic villus samples, or from cultured cells, and examined with 80 kb resolution oligonucleotide array-based comparative genomic hybridisation (aCGH). MAIN OUTCOME MEASURES: Clinically significant copy number variations identified by aCGH. RESULTS: We detected clinically significant copy number variations in eleven fetuses (12%, confidence interval 6.0-19%) with structural malformations. Three cases (3.4%) had uncertain clinical significant variations and incidental findings. CONCLUSIONS: ACGH is a valuable diagnostic tool when fetal malformations are detected. More affected fetuses may be diagnosed at an earlier gestational age providing better possibilities for postnatal treatment and allowing for women to decide earlier on termination of pregnancy. In cases where a normal result has reduced the risk of significant chromosomal aberration aCGH may facilitate parental decision-making on whether to continue the pregnancy. This article is protected by copyright. All rights reserved.
Else Marie Vestergaard; Rikke Christensen; Olav B Petersen; Ida Vogel
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-4-16
Journal Detail:
Title:  Acta obstetricia et gynecologica Scandinavica     Volume:  -     ISSN:  1600-0412     ISO Abbreviation:  Acta Obstet Gynecol Scand     Publication Date:  2013 Apr 
Date Detail:
Created Date:  2013-4-17     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0370343     Medline TA:  Acta Obstet Gynecol Scand     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
This article is protected by copyright. All rights reserved.
Departments of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
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