Genetic screening and diagnosis.

Abstract:

PURPOSE OF REVIEW:To review the latest developments in screening and diagnosis of non-chromosomal genetic diseases. RECENT FINDINGS:Major recent advances include the completion of the Human Genome Project, the use of microarray and related technologies for mass screening and diagnosis of thousands of genetic abnormalities, and non-invasive prenatal diagnosis using fetal DNA in maternal plasma. SUMMARY:The rapid development in molecular biological technologies makes it possible to screen and to diagnosis thousands of genetic conditions, mutations and also predispositions to chronic diseases or traits, either prenatally or after birth. Clinical application of non-invasive prenatal diagnosis using fetal DNA in maternal plasma has become a reality. The arrival of the molecular genetic era also leads to many new ethical, social and medico-legal problems and dilemmas that obstetricians will have to face in the near future. There is an urgent need for the development of a new model for provision of genetic screening and diagnosis.

authors

Lau TK,Leung TN

doi

10.1097/01.gco.0000162187.99219.e0

keywords:

subject

Has Abstract

pub_date

2005-04-01 00:00:00

pages

163-9

issue

2

eissn

1040-872X

issn

1473-656X

pii

00001703-200504000-00012

journal_volume

17

pub_type

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