Document Detail


Sonogenetics in fetal neurology.
MedLine Citation:
PMID:  22921277     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Fetal imaging technology has been advancing remarkably and prenatal detection and diagnoses have been moved forward from the second and third trimesters to the first trimester. Structural abnormalities detected by fetal imaging often lead to prenatal diagnoses of genetic disorders. However, there are still dilemmas in fetal diagnoses in normal karyotype cases with strong suspicion of congenital genetic disorders from sonographic findings. When fetal sonography reveals multiple minor abnormalities originating from various organs, counseling dilemmas and parental anxieties become greater than before karyotyping. Array-comparative genomic hybridization (aCGH) was developed as a high-resolution analysis of DNA copy number variations (CNVs). In seven cases presenting with abnormal brain structures by fetal imaging, abnormal CNVs were confirmed by aCGH but conventional karyotyping yielded normal results. Although careful patient selection is required in order to deal with microarray results and parental counseling, 'sonogenetics' - incorporating the idea of 'fetuses first' - will play an important role in the era of molecular genetics. Recent advances in non-invasive prenatal testing by using fetal cell-free DNA in maternal plasma has the potential to generate misleading prenatal diagnoses without the observation of fetuses. However, no fetal diagnoses should be made without observing fetuses and we must not forget 'the fetus as a patient'.
Authors:
Ritsuko K Pooh
Related Documents :
19282327 - Endometrial cysteine-rich secretory protein 3 is inhibited by human chorionic gonadotro...
17921007 - Current management of ectopic pregnancy.
17075467 - Validation of body mass index for the diagnosis of malnutrition in patients with liver ...
11870427 - The value of mr angiography in predicting the risk of torsion of a pelvic spleen during...
20976307 - Features and outcomes in utero and after birth of fetuses with myocardial disease.
8883587 - Heterosexual behavior during pregnancy and perinatal transmission of hiv-1. new york ci...
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-8-21
Journal Detail:
Title:  Seminars in fetal & neonatal medicine     Volume:  -     ISSN:  1878-0946     ISO Abbreviation:  Semin Fetal Neonatal Med     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-8-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101240003     Medline TA:  Semin Fetal Neonatal Med     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Elsevier Ltd. All rights reserved.
Affiliation:
CRIFM Clinical Research Institute of Fetal Medicine PMC, 7-3-7, Uehommachi, Tennoji, Osaka #543-0001, Japan.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Risk factors for relaparotomy after cesarean delivery.
Next Document:  Antibacterial Action of 4,4'-Bipyrazolyl-Based Silver(I) Coordination Polymers Embedded in PE Disks.