Document Detail

Recent advances in non-invasive prenatal DNA diagnosis through analysis of maternal blood.
MedLine Citation:
PMID:  18001438     Owner:  NLM     Status:  MEDLINE    
Prenatal diagnosis of aneuploidy and single-gene disorders is usually performed by collecting fetal samples through amniocentesis or chorionic villus sampling. However, these invasive procedures are associated with some degree of risk to the fetus and/or mother. Therefore, in recent years, considerable effort has been made to develop non-invasive prenatal diagnostic procedures. One potential non-invasive approach involves analysis of cell-free fetal DNA in maternal plasma or serum. Another approach utilizes fetal cells within the maternal circulation as a source of fetal DNA. At the present time, fetal gender and fetal RhD blood type within RhD-negative pregnant women can be reliably determined through analysis of maternal plasma. Furthermore, genetic alterations can be diagnosed in the maternal plasma when the mother does not have the alterations. However, the diagnosis of maternally inherited genetic disease and aneuploidy is limited using this approach. Non-invasive prenatal diagnosis through examination of intact fetal cells circulating within maternal blood can be used to diagnose a full range of genetic disorders. Since only a limited number of fetal cells circulate within maternal blood, procedures to enrich the cells and enable single cell analysis with high sensitivity are required. Recently, separation methods, including a lectin-based method and autoimage analyzing, have been developed, which have improved the sensitivity of genetic analysis. This progress has supported the possibility of non-invasive prenatal diagnosis of genetic disorders. In the present article, we discuss recent advances in the field of non-invasive prenatal diagnosis.
Akihiko Sekizawa; Yuditiya Purwosunu; Ryu Matsuoka; Keiko Koide; Shiho Okazaki; Antonio Farina; Hiroshi Saito; Takashi Okai
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  The journal of obstetrics and gynaecology research     Volume:  33     ISSN:  1341-8076     ISO Abbreviation:  J. Obstet. Gynaecol. Res.     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2007-11-16     Completed Date:  2008-02-28     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9612761     Medline TA:  J Obstet Gynaecol Res     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  747-64     Citation Subset:  IM    
Department of Obstetrics and Gynecology, Showa University School of Medicine, Tokyo, Japan.
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MeSH Terms
DNA / blood*,  genetics
Fetal Diseases / blood,  diagnosis*
Fetus / cytology
Genetic Diseases, Inborn / blood,  diagnosis*,  genetics
Maternal-Fetal Exchange
Pregnancy / blood*,  genetics*
Prenatal Diagnosis / methods*
Reg. No./Substance:

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