Noninvasive prenatal diagnostic. Problems, approaches and perspectives
- 作者: Malysheva O.V1, Baranov V.S2
-
隶属关系:
- Diagnostic center of medical genetics
- D. O. Ott Research Institute of Obstetrics and Gynecology, Northwest Branch of the Russian Academy of Medical Sciences
- 期: 卷 61, 编号 3 (2012)
- 页面: 83-93
- 栏目: Articles
- URL: https://ogarev-online.ru/jowd/article/view/1291
- DOI: https://doi.org/10.17816/JOWD61383-93
- ID: 1291
如何引用文章
全文:
详细
作者简介
Olga Malysheva
Diagnostic center of medical geneticsLaboratory of prenatal diagnostic, D. O. Ott Research Institute of Obstetrics and Gynecology, Northwest Branch of the Russian Academy of Medical Sciences
Vladislav Baranov
D. O. Ott Research Institute of Obstetrics and Gynecology, Northwest Branch of the Russian Academy of Medical Sciences
Email: baranov@VB2475.spb.edu
professor, chief of the Laboratory for Prenatal Diagnosis
参考
- Баранов В. С., Айламазян Э. К. Современные алгоритмы пренатальной диагностики наследственных болезней: методические рекомендации. — СПб., Изд-во Н-Л, 2009. — 116 с.
- Токарева А. Г. Исследование фетальной и материнской ДНК при нормальной беременности и при нарушениях развития плода: дис… канд. биол. наук. — Томск, 2006.
- Шилова Н. В. Клетки плода в крови матери // Мед. генетика. — 2002. — № 1. — С. 57–64.
- Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing / Fan H. C. [et al.] // Clin. Chem. — 2010. — Vol. 56, N 8. — P. 1279–1286.
- Application of fetal DNA detection in maternal plasma: a prenatal diagnosis unit experience / González-González C. [et al.] // J. Histochem. Cytochem. — 2005. — Vol. 53, N 3. — P. 307–314.
- Bianchi D. W. Circulating fetal DNA: its origin and diagnostic potential // Placenta. — 2004. — Vol. 25. — P.93–101.
- Bianchi D. W., Zickwolf G. K., Weil G. J. Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum // Proc. Natl. Acad. Sci.USA. — 1996. — Vol. 93. — P. 705–708
- Circulating nucleic acids in blood of healthy male and female donors / Tamkovich S. N. [et al.] // Clin. Chem. — 2005 — Vol. 51 — P. 1317–1319.
- Detection of apoptotic fetal cells in plasma of pregnant women / van Wijk I. J. [et al.] // Clin. Chem. — 2000 — Vol. 46 — P. 729–731.
- Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats / Pertl В. [et al.] // Hum. Genet. — 2000. — Vol. 106. — P. 45–49.
- Effect of formaldehyde treatment on the recovery of cell — free fetal DNA from maternal plasma at different processing times / Zhang Y. [et al.] // Clin. Chim. Acta. — 2008. — Vol. 397. — P. 60–64.
- Effects of blood processing protocols on fetal and total DNA quantification in maternal plasma / Chiu R. W. K. [et al.] // Clin. Chem. — 2001. — Vol. 47. — P. 1607–1613.
- Epigenetic-genetic chromosome dosage approach for fetal trisomy 21 detection using an autosomal genetic reference marker / Tong Y. K. [et al.] // PLoS One — 2010 — Vol. 20. — E.15244.
- Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum / Honda H. [et al.] // Hum. Genet. — 2002. — Vol. 110. — P. 75–79.
- First-trimester fetal sex determination in maternal serum using real-time PCR / Costa J. M. [et al.] // Prenat. Diagn. — 2001. — Vol. 21. — P. 1070–1074.
- Holzgreve W., Hahn S. Fetal cells in cervical mucus and maternal blood // Bail. Clin. Obstet. Gynecol. — 2000. — Vol. 14. — P. 709–722.
- Hristoskova S., Holzgreve W., Hahn S. More than one-half of the erythroblasts in the fetal circulation and cord blood are TUNNEL positive // Clin. Chem. — 2001. — Vol. 47. — P. 1870–1871.
- Hypermethylated RASSF1A in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis / Chan K. C. [et al.] // Clin. Chem. — 2006. — Vol. 52, N 12. — P. 2211–2218.
- Identification of universal mRNA markers for noninvasive prenatal screening of trisomies / Picchiassi E. [et al.] // Prenat. Diagn. — 2010. — Vol. 30, N 8. — P. 764–770.
- Implementing prenatal diagnosis based on cell-free fetal DNA: accurate identification of factors affecting fetal DNA yield / Barrett A. N. [et al.] // PLoS One. — 2011. — Vol. 6, N 10. — E. 25202.
- Incremental cost of non-invasive prenatal diagnosis versus invasive prenatal diagnosis of fetal sex in England / Hill M. [et al.] // Prenat Diagn. — 2011. — Vol. 31, N.3 — P. 267–273.
- Landy H. J., Keith L. G. The vanishing twin: a review // Hum. Reprod. Update. — 1998. — Vol. 4, N 2. — P.177–183.
- Li Y., Zimmerman В., Rusterholtz С. Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms // Clin. Chem. — 2004. — Vol. 50. — P. 1002–1011.
- Lo Y. M. D. Circulating nucleic acids in plasma and serum: an overview // Ann. N. Y. Acad. Sci. — 2001. — P. 945.
- Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting / Ehrich M. [et al.] // Am. J. Obstet. Gynecol. — 2011. — Vol. 204, N 3. — P. 1–11.
- Noninvasive fetal RHD genotyping from maternal plasma. Use of a new developed Free DNA Fetal Kit RhD / Rouillac-Le Sciellour C. [et al.] // Transfus. Clin. Biol. — 2007. — Vol. 14, N 6. — P. 572—577.
- Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study / Chiu R. W. [et al.] // BMJ. — 2011. — Vol. 11. — P. 342.
- Noninvasive prenatal detection of fetal trisomy 18 by epigenetic allelic ratio analysis in maternal plasma: theoretical and empirical considerations / Tong Y. K. [et al.] // Clin. Chem. — 2006 — Vol. 52, N 12 — P. 2194–2202.
- Non-invasive prenatal determination of fetal sex: translating research into clinical practice / Hill M. [et al.] // Clin. Genet. — 2011. — Vol. 80, N 1 — P. 68–75.
- Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing / Chen E. Z. [et al.] // PLoS One. — 2011. — Vol. 6, N 7. — E. 21791.
- Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA / Tsui N. B. [et al.] // Blood. — 2011. — Vol. 117, N 13 — P. 3684–3691.
- Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma / Lun F. M. [et al.] // Proc. Natl. Acad. Sci. U S A. — 2008. — Vol. 16, N 105. — P.19920–19925.
- Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma / Lo Y. M. [et al.] // N. Eng. J. Med. — 1998. — Vol. 399. — P. 1734–1738.
- Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma / Aminucci P. [et al.] // Clin. Chem. — 2000. — Vol. 46. — P. 301–302.
- Prenatal RhD Testing: A Review of Studies Published from 2006 to 2008 / Legler T. J. [et al.] // Transfus Med. Hemother. — 2009. — Vol. 36, N 3. — P.189–198.
- Presence of fetal DNA in maternal plasma and serum / Lo Y. M. [et al.] // Lancet. — 1997. — Vol. 350. — P. 485–487.
- Quantification and application of the placental epigenetic signature of the RASSF1A gene in maternal plasma / Zhao F. [et al.] // Prenat Diagn. — 2010. — Vol. 30, N 8 — P. 778–782.
- Quantitation of genomic DNA in plasma and serum samples: higher concentrations of genomic DNA found in serum than in plasma / Lee Т. Н. [et al.] // Transfusion. — 2001. — Vol. 41. — P. 276–282.
- Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis / Lo Y. M. [et al.] // Am. J. Hum. Genet. — 1998. — Vol. 62, N 4. — P. 768–775.
- Routine fetal RHD genotyping with maternal plasma: a four-year experience in Belgium / Minon J. M. [et al.] // Transfusion. — 2008. — Vol. 48, N 2. — P. 373–381.
- Size distributions of maternal and fetal DNA in maternal plasma / Chan K. C. A. [et al.] // Clin. Chem. — 2004. — Vol. 50. — P. 88–92.
- Szczepura A., Osipenko L., Freeman K. A new fetal RHD genotyping test: costs and benefits of mass testing to target antenatal anti-D prophylaxis in England and Wales // BMC Pregnancy Childbirth. — 2011. — Vol.18. — P.11–15.
- Testing normality of fetal DNA concentration in maternal plasma at 10–12 completed weeks gestation: a preliminary approach to a new marker for genetic screening / Farina A. [et al.] // Prenat. Diagn. — 2002. — Vol. 22. — P. 148–152.
- Use of bi-allelic insertion/deletion polymorphisms as a positive control for fetal genotyping in maternal blood: first clinical experience / Page-Christiaens G. C. [et al.] // Ann. N. Y. Acad. Sci. — 2006. — Vol. 1075. — P. 123–129.
- Workshop report on the extraction of foetal DNA from maternal plasma / Legler T. J. [et al.] // Prenat. Diagn. — 2007. — Vol. 27, N 9. — P. 824–829.
- Zolotukhina T. V., Shilova N. V., Voskoboeva E. Y. Analysis of cell-free fetal DNA in plasma and serum of pregnant women // J. Histochem. Cytochem. — 2005 — Vol. 53, N 3 — P. 297–299.
补充文件
