I-40: Non Invasive Prenatal Genetic Diagnosis;Current Status and The Future

author

Abstract:

Discovery of cell free fetal DNA in 1997 has deeply changed the outlook of prenatal diagnosis approaches as most of the clinically established screening tests are not sensitive/specific enough while the current practical diagnostic tests are also invasive in their nature. The most common prenatal screening test is routinely practiced for the diagnosis of Down syndrome (DS) which includes a 10% failure in diagnosis of pregnancies with DS, whilst 19 from 20 positive-screened are also falsely positive. In addition, definite diagnosis of DS pregnancies can be achieved by invasive procedures of amniocentesis and or CVS which will contain a risk of 0.5 to 1% for fetal loss. Non-invasive prenatal genetic diagnosis (NIPNGD) relies on genotyping of the fetus rather than phenotypic evaluations and is done through separation of fetal cells or nucleic acids from maternal blood. In the last 15 years, an increasing number of researches were done on NIPNGD which in turn have brought it to the edge of approval for clinical application at least in some prenatal conditions like DS. Nowadays, NIPNGD methods are broadly under investigation to determine their applicability in various fetomaternal conditions such as fetal sex determination, aneuploidies, single gene disorders, microdeletions and microduplications, Rhesus incompatibility, fetal growth restrictions, preeclampsia, preterm labor and so on. These approaches are mostly based on detecting fetal nucleic acids in maternal blood as the number of intact fetal cells and the methods for their separation from maternal blood are quietly limited. The two important obstacles that have hindered the use of cell free fetal DNA in NIPNGD are the very low ratio of fetal DNA in maternal blood (3 to 6%) and difficulty in distinguishing fetal DNA from maternal DNA. These difficulties are mostly affecting the result of conventional methods such as PCR and Sanger sequencing. Sophisticated and highly throughput new approaches such as array CGH and next generation sequencing (NGS) are promising to be able to overcome these drawbacks. At the present, NGS is going to be clinically applicable for screening trisomic pregnancies with 100% sensitivity and specificity. It is predictable that these methods can be extensively applied in the clinic for non-invasive prenatal diagnosis of various genetic conditions in the future.

Upgrade to premium to download articles

Sign up to access the full text

Already have an account?login

similar resources

Invasive or non-invasive prenatal genetic diagnosis?

About 40 years ago, invasive prenatal diagnosis techniques were introduced in obstetrics. Initially, amniocentesis was performed followed by placentacentesis, fetoscopy, fetal blood sampling (FBS), and chorionic villus sampling (CVS). These procedures, while invading the uterine environment, have made it possible to proceed with the retrieval of biological tissue of fetal origin for analysis an...

full text

Non-invasive prenatal testing for aneuploidy: current status and future prospects.

Non-invasive prenatal testing (NIPT) for aneuploidy using cell-free DNA in maternal plasma is revolutionizing prenatal screening and diagnosis. We review NIPT in the context of established screening and invasive technologies, the range of cytogenetic abnormalities detectable, cost, counseling and ethical issues. Current NIPT approaches involve whole-genome sequencing, targeted sequencing and as...

full text

Arras Invasive or non - invasive prenatal genetic diagnosis ?

About 40 years ago, invasive prenatal diagnosis techniques were introduced in obstetrics. Initially, amniocentesis was performed followed by placentacentesis, fetoscopy, fetal blood sampling (FBS), and chorionic villus sampling (CVS). These procedures, while invading the uterine environment, have made it possible to proceed with the retrieval of biological tissue of fetal origin for analysis an...

full text

I-40: The Genetic Complexities of Human Sex-Determination

Background - MaterialsAndMethods N;Results N;Conclusion N;

full text

Non-Invasive Prenatal Diagnosis in Twin Pregnancies: Current Status

The objective of this review is to assess the evidence which supports the use of non-invasive prenatal diagnosis (NIPD) in twin pregnancies. Through the years, we have witnessed the technological developments in non-invasive prenatal diagnosis attained new heights, but those studies were usually limited in singleton pregnancies. As we known, twin pregnancies are at higher risk in both aneuploid...

full text

What potent blood: non-invasive prenatal genetic diagnosis and the transformation of modern prenatal care.

Copyright 2007 by the American Society of Law, Medicine & Ethics, Inc., and Boston university. All rights reserved. For permission to photocopy articles or other materials appearing in the American Journal of Law & Medicine, contact Copyright Clearance Center, 222 Rosewood Drive, Danvers, Massachusetts, 01923; tel. 978-750-8400; fax 978-750-4470; or contact the Editor, American Society of Law, ...

full text

My Resources

Save resource for easier access later

Save to my library Already added to my library

{@ msg_add @}


Journal title

volume 7  issue 3

pages  18- 18

publication date 2013-09-01

By following a journal you will be notified via email when a new issue of this journal is published.

Keywords

Hosted on Doprax cloud platform doprax.com

copyright © 2015-2023