Non-invasive prenatal diagnosis of single gene disorders: How close are we?

被引：25

作者：

Norbury, Gail ^{[1
]}

Norbury, Chris J. ^{[2
]}

机构：

[1] Great Ormond St Hosp Sick Children, Camelia Botnar Labs, NE Thames Reg Mol Genet Lab, London WC1N 3JH, England

[2] Univ Oxford, Sir William Dunn Sch Pathol, Oxford OX1 3RE, England

来源：

SEMINARS IN FETAL & NEONATAL MEDICINE | 2008年 / 13卷 / 02期

关键词：

cell free DNA (cf DNA); cell free fetal DNA (cffDNA); cystic fibrosis (CF); fetal sex determination; first-trimester analysis; free fetal DNA (ffDNA); non-invasive prenatal diagnosis; single gene disorders;

D O I：

10.1016/j.siny.2007.12.008

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Analysis of cell free fetal DNA (cffDNA) in maternal plasma provides the opportunity for reliable, timely, safe and cost-effective diagnosis of single gene disorders. The detection of certain fetal loci using cffDNA and conventional molecular analytic approaches is possible from 4 weeks gestation. To date, non-invasive first-trimester analysis for single gene disorders has been limited by assay sensitivity and specificity, due to the background maternal DNA. The anticipated ability to enrich the fetal component of cell free DNA will increase the robustness of tests and permit semi-quantitative analysis, broadening the scope of testing to include recessive disorders such as cystic fibrosis. Testing for large-scale mutations might remain limited by the fragmented nature of cffDNA and, when testing very early in gestation, careful ultrasound examination will be needed to determine the number of gestational sacs, because of the risk of discordant twin pregnancies. (c) 2007 Elsevier Ltd. All rights reserved.

引用

页码：76 / 83

页数：8

共 31 条

[1] Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast [J].

Alberry, M. ;

Maddocks, D. ;

Jones, M. ;

Hadi, M. Abdel ;

Abdel-Fattah, S. ;

Avent, N. ;

Soothill, P. W. .

PRENATAL DIAGNOSIS, 2007, 27 (05) :415-418

[2] Quantitative assessment of hematopoietic chimerism after bone marrow transplantation by real-time quantitative polymerase chain reaction [J].

Alizadeh, M ;

Bernard, M ;

Danic, B ;

Dauriac, C ;

Birebent, B ;

Lapart, C ;

Lamy, T ;

Le Prisé, PY ;

Beauplet, A ;

Bories, D ;

Semana, G ;

Quelvennec, E .

BLOOD, 2002, 99 (12) :4618-4625

[3]

Amicucci P, 2000, CLIN CHEM, V46, P301

[4]

Bischoff Farideh Z, 2003, Reprod Biomed Online, V6, P349

[5] Cell-free fetal DNA in maternal blood: kinetics, source and structure [J].

Bischoff, FZ ;

Lewis, DE ;

Simpson, JL .

HUMAN REPRODUCTION UPDATE, 2005, 11 (01) :59-67

[6] Hypermethylated RASSF1A in maternal plasma:: A universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis [J].

Chan, K. C. Allen ;

Ding, Chunming ;

Gerovassili, Ageliki ;

Yeung, Sze W. ;

Chiu, Rossa W. K. ;

Leung, Tse N. ;

Lau, Tze K. ;

Chim, Stephen S. C. ;

Chung, Grace T. Y. ;

Nicolaides, Kypros H. ;

Lo, Y. M. Dennis .

CLINICAL CHEMISTRY, 2006, 52 (12) :2211-2218

[7] Size distributions of maternal and fetal DNA in maternal plasma [J].

Chan, KCA ;

Zhang, J ;

Hui, ABY ;

Wong, N ;

Lau, TK ;

Leung, TN ;

Lo, KW ;

Huang, DWS ;

Lo, YMD .

CLINICAL CHEMISTRY, 2004, 50 (01) :88-92

[8] Detection of the placental epigenetic signature of the maspin gene in maternal plasma [J].

Chim, SSC ;

Tong, YK ;

Chiu, RWK ;

Lau, TK ;

Leung, TN ;

Chan, LYS ;

Oudejans, CBM ;

Ding, CM ;

Lo, YMD .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2005, 102 (41) :14753-14758

[9]

CHITTY L, 2007, J MED GENET, V43, pSP43

[10]

CHIU RW, 1960, LANCET, V360, P998

← 1 2 3 4 →