Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing

Annals of the New York Academy of Sciences

Volumn 1075, Issue , 2006, Pages 108-117

  Bustamante Aragones, Ana ^a,b   Garcia Hoyos, Maria ^a   Rodriguez De Alba, Marta ^a   Gonzalez Gonzalez, Cristina ^a   Lorda Sanchez, Isabel ^a   Diego Alvarez, Dan ^a   Trujillo Tiebas, M Jose ^a   Ayuso, Carmen ^a   Ramos, Carmen ^a  

^a Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^b Instituto Reina Sofía de Investigación Nefrológica   (Spain)

Author keywords

Automated sequencing; Fetal DNA; Maternal blood; Mutation; Retinitis pigmentosa

Indexed keywords

GENOMIC DNA; GLUTAMINE;

ADULT; AUTOMATED SEQUENCING; CASE REPORT; CONFERENCE PAPER; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; FEMALE; FETUS; GENE; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GESTATION PERIOD; HUMAN; LABORATORY AUTOMATION; MATERNAL BLOOD; MATERNAL PLASMA; MOTHER FETUS RELATIONSHIP; MUTATIONAL ANALYSIS; NON INVASIVE MEASUREMENT; PATERNITY TEST; PREGNANT WOMAN; PRENATAL DIAGNOSIS; RESTRICTION MAPPING; RP2 GENE; X CHROMOSOME;

EID: 33749550164     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1196/annals.1368.014     Document Type: Conference Paper

References (34)

1. LO, Y.M. et al. 1997. Presence of fetal DNA in maternal plasma and serum. Lancet 350: 485-487.
2. CHIU, R.W. et al. 2001. Effects of blood-processing protocols on fetal and total DNA quantification in maternal plasma. Clin. Chem. 47: 1607-1613.
3. ANGERT, R.M. et al. 2003. Fetal cell-free plasma DNA concentrations in maternal blood are stable 24 hours after collection: analysis of first- and third-trimester samples. Clin. Chem. 49: 195-198.
4. DHALLAN, R. et al. 2004. Methods to increase the percentage of free fetal DNA recovered from the maternal circulation. JAMA 291: 1114-1119.
5. LI, Y. et al. 2004. Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphisms. Clin. Chem. 50: 1002-1011.
6. LO, Y.M. et al. 1998. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am. J. Hum. Genet. 62: 768-775.
7. PERTL, B. et al. 2000. Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats. Hum. Genet. 106: 45-49.
8. GUIBERT, J. et al. 2003. Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique. Hum. Reprod. 18: 1733-1736.
9. JOHNSON, K.L. et al. 2004. Interlaboratory comparison of fetal male DNA detection from common maternal plasma samples by real-time PCR. Clin. Chem. 50: 516-521.
10. HARPER, T.C. et al. 2004. Use of maternal plasma for noninvasive determination of fetal RhD status. Am. J. Obstet. Gynecol. 191: 1730-1732.
11. GAUTIER, E. et al. 2005. Fetal RhD genotyping by maternal serum analysis: a two-year experience. Am. J. Obstet. Gynecol. 192: 666-669.
12. MOISE, K.J. 2005. Fetal RhD typing with free DNA in maternal plasma. Am. J. Obstet. Gynecol. 192: 663-665.
13. SAITO, H. 2000. Prenatal DNA diagnosis of a single-gene disorder from maternal plasma. Lancet 356: 1170.
14. GONZÁLEZ-GONZÁLEZ, M.C. et al. 2002. Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma. Prenat. Diagn. 22: 946-948.
15. LI, Y. et al. 2004a. Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma-case report. Prenat. Diagn. 24: 896-898.
16. WONG, B.C. & Y.M. LO, 2003. Cell-free DNA and RNA in plasma as new tools for molecular diagnostics. Expert Rev. Mol. Diagn. 3: 785-797.
17. BISCHOFF, F.Z. et al. 2005. Cell-free fetal DNA in maternal blood: kinetics, source and structure. Hum. Reprod. Update 11: 59-67.
18. GALBIATI, S. et al. 2005. Fetal DNA detection in maternal plasma throughout gestation. Hum. Genet. 117: 243-248.
19. LO, Y.M. et al. 1999. Increased fetal DNA concentrations in the plasma of pregnant women carrying fetuses with trisomy 21. Clin. Chem. 45: 1747-1751.
20. SPENCER, K. et al. 2003. Increased total cell-free DNA in the serum of pregnant women carrying a fetus affected by trisomy 21. Prenat. Diagn. 23: 580-583.
21. WATAGANARA, T. 2003. Maternal serum cell-free fetal DNA levels are increased in cases of trisomy 13 but not trisomy 18. Hum. Genet. 112: 204-208.
22. LO, Y.M. et al. 1999b. Quantitative abnormalities of fetal DNA in maternal serum in preeclampsia. Clin. Chem. 45: 184-188.
23. ZHONG, X.Y. et al. 2001. Elevation of both maternal and fetal extracellular circulating deoxyribonucleic acid concentrations in the plasma of pregnant women with preeclampsia. Am. J. Obstet. Gynecol. 184: 414-419.
24. POON, L.L. et al. 2002. Differential DNA methylation between fetus and mother as a strategy for detecting fetal DNA in maternal plasma. Clin. Chem. 48: 35-41.
25. MUSARELLA, M.A. et al. 1988. Localization of the gene for X-linked recesive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis. Am. J. Hum. Genet. 43: 484-494.
26. BHATTACHARYA, S.S. et al. 1984. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature 309: 253-255.
27. SCHWAHN, U. et al. 1998. Postional cloning of the gene for X-linked retinitis pigmentosa 2. Nat. Genet. 19: 327-332.
28. GONZÁLEZ-GONZÁLEZ, M.C. et al. 2003. Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR. Prenat. Diagn. 23: 232-234.
29. GONZÁLEZ-GONZÁLEZ, M.C. 2003. Early Huntington disease prenatal diagnosis by maternal semiquantitative fluorescent PCR. Neurology 60: 1214-1215.
30. GONZÁLEZ-GONZÁLEZ, M.C. 2005. Application of fetal DNA detection in maternal plasma: a prenatal diagnosis unit experience. J. Histochem. Cytochem. 53: 307-314.
31. BIANCHI, D.W. 2004. Circulating fetal DNA: its origin and diagnostic potential-a review. Placenta 25(Suppl. A): S93-S101.
32. LI, Y. et al. 2005. Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma. JAMA 2005 293: 843-849.
33. HROMADNIKOVA, I. et al. 2003. Replicate real-time PCR testing of DNA in maternal plasma increases the sensitivity of non-invasive fetal sex determination. Prenat. Diagn. 23: 235-238.
34. HO, S.S. et al. 2004. Non-invasive prenatal diagnosis of fetal gender using real-time polymerase chain reaction amplification of SRY in maternal plasma. Ann. Acad. Med. Singapore 33( Suppl. 5): S61-S62.