Recent advances in the prenatal interrogation of the human fetal genome

Trends in Genetics

Volumn 29, Issue 2, 2013, Pages 84-91

  Hui, Lisa ^a,b   Bianchi, Diana W ^a  

^a TUFTS MEDICAL CENTER   (United States)

^b University of Sydney   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ANEUPLOIDY; CHORION VILLUS SAMPLING; CHROMOSOME MICROARRAY; COPY NUMBER VARIATION; CYTOGENETICS; DOWN SYNDROME; FETAL GENOME; FETUS KARYOTYPING; GENETIC COUNSELING; HUMAN; HUMAN GENOME; KARYOTYPE; MATERNAL BLOOD; MICROARRAY ANALYSIS; MONOGENIC DISORDER; PERINATAL MORBIDITY; PERINATAL MORTALITY; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

FEMALE; FETAL DISEASES; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 84872871232     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tig.2012.10.013     Document Type: Review

References (62)

1. Steele M.W., Breg W.R. Chromosome analysis of human amniotic-fluid cells. Lancet 1966, 1:383-385.
2. Jacobson C.B., Barter R.H. Intrauterine diagnosis and management of genetic defects. Am. J. Obstet. Gynecol. 1967, 99:796-807.
3. Valenti C., et al. Prenatal diagnosis of Down's syndrome. Lancet 1968, 2:220.
4. Miller D.T., et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet. 2010, 86:749-764.
5. Friedman J.M. High-resolution array genomic hybridization in prenatal diagnosis. Prenat. Diagn. 2009, 29:20-28.
6. Brady P.D., Vermeesch J.R. Genomic microarrays: a technology overview. Prenat. Diagn. 2012, 32:336-343.
7. Wapner R.J. A multicenter, prospective, masked comparison of chromosomal microarray with standard karyotyping for routine and high risk prenatal diagnosis. Am. J. Obstet. Gynecol. 2012, 206:S2.
8. Hillman S.C., et al. Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet. Gynecol. 2011, 37:6-14.
9. Vetro A., et al. The introduction of arrays in prenatal diagnosis: a special challenge. Hum. Mutat. 2012, 33:923-929.
10. Novelli A., et al. Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. Ultrasound Obstet. Gynecol. 2012, 39:384-388.
11. American College of Obstetricians and Gynecologists ACOG Committee Opinion No. 446: array comparative genomic hybridization in prenatal diagnosis. Obstet. Gynecol. 2009, 114:1161-1163.
12. Wapner R.J., et al. Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial. Prenat. Diagn. 2012, 32:396-400.
13. Lo Y.M., et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997, 350:485-487.
14. Devaney S.A., et al. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA 2011, 306:627-636.
15. Hill M., et al. Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clin. Genet. 2011, 80:68-75.
16. Chan K.C., et al. Hypermethylated RASSF1A in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. Clin. Chem. 2006, 52:2211-2218.
17. White H.E., et al. Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis. PLoS ONE 2012, 7:e45073.
18. Kolialexi A., et al. Early non-invasive detection of fetal Y chromosome sequences in maternal plasma using multiplex PCR. Eur. J. Obstet. Gynecol. Reprod. Biol. 2012, 161:34-37.
19. Finning K.M., et al. Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service. Transfusion 2002, 42:1079-1085.
20. Clausen F.B., et al. Report of the first nationally implemented clinical routine screening for fetal RHD in D-pregnant women to ascertain the requirement for antenatal RhD prophylaxis. Transfusion 2012, 52:752-758.
21. Scheffer P.G., et al. Noninvasive fetal blood group genotyping of rhesus D, c, E and of K in alloimmunised pregnant women: evaluation of a 7-year clinical experience. Br. J. Obstet. Gynecol. 2011, 118:1340-1348.
22. Traeger-Synodinos J., et al. Prenatal, noninvasive and preimplantation genetic diagnosis of inherited disorders: hemoglobinopathies. Expert Rev. Mol. Diagn. 2011, 11:299-312.
23. Scheffer P.G., et al. Noninvasive fetal genotyping of human platelet antigen-1a. Br. J. Obstet. Gynecol. 2011, 118:1392-1395.
24. Shammas C., et al. ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of beta-thalassaemia. Clin. Chem. Lab. Med. 2010, 48:1713-1718.
25. Tsui N.B., et al. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood 2011, 117:3684-3691.
26. Bianchi D.W., et al. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. National Institute of Child Health and Development Fetal Cell Isolation Study. Prenat. Diagn. 2002, 22:609-615.
27. Fan H.C., Quake S.R. Detection of aneuploidy with digital polymerase chain reaction. Anal. Chem. 2007, 79:7576-7579.
28. Lo Y.M., et al. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc. Natl. Acad. Sci. U.S.A. 2007, 104:13116-13121.
29. Lun F.M., et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin. Chem. 2008, 54:1664-1672.
30. Chiu R.W., et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. Br. Med. J. 2011, 342:c7401.
31. Ehrich M., et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am. J. Obstet. Gynecol. 2011, 204. 205 e201-e211.
32. Palomaki G.E., et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet. Med. 2011, 13:913-920.
33. Sehnert A.J., et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin. Chem. 2011, 57:1042-1049.
34. Sparks A.B., et al. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am. J. Obstet. Gynecol. 2012, 206. 319 e311-e319.
35. Bianchi D.W., et al. Genome wide fetal aneuploidy detection by sequencing of maternal plasma DNA: diagnostic accuracy in a prospective, blinded, multicenter study. Am. J. Obstet. Gynecol. 2012, 206:S367.
36. Chen E.Z., et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS ONE 2011, 6:e21791.
37. Palomaki G.E., et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet. Med. 2012, 14:296-305.
38. Sparks A.B., et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat. Diagn. 2012, 32:3-9.
39. Ashoor G., et al. Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimster detection of trisomy 21 and trisomy 18. Am. J. Obstet. Gynecol. 2012, 206. 322 e321-e325.
40. Norton M.E., et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am. J. Obstet. Gynecol. 2012, 207. 137 e131-e138.
41. van den Oever J.M., et al. Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection. Clin. Chem. 2012, 58:699-706.
42. Ashoor G., et al. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: effect of maternal and fetal factors. Fetal Diagn. Ther. 2012, 31:237-243.
43. Canick J.A., et al. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat. Diagn. 2012, 32:730-734.
44. Benn P., et al. Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011. Prenat. Diagn. 2012, 32:1-2.
45. Yao H., et al. Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X. Prenat. Diagn. 2012, 10/1002/pd.3946.
46. Chiu R.W., Lo Y.M. Noninvasive prenatal diagnosis empowered by high-throughput sequencing. Prenat. Diagn. 2012, 32:401-406.
47. Lo Y.M., et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci. Transl. Med. 2010, 2:61ra91.
48. Kitzman J.O., et al. Noninvasive whole-genome sequencing of a human fetus. Sci. Transl. Med. 2012, 4:137ra76.
49. Fan H.C., et al. Non-invasive prenatal measurement of the fetal genome. Nature 2012, 487:320-324.
50. Fan H.C., et al. Whole-genome molecular haplotyping of single cells. Nat. Biotechnol. 2011, 29:51-57.
51. Lau T.K., et al. Non-invasive prenatal screening of fetal sex chromosomal abnormalities: perspective of pregnant women. J. Matern. Fetal Neonatal Med. 2012, 10.3109/14767058.2012.712569.
52. Bianchi D.W. At-home fetal DNA gender testing: caveat emptor. Obstet. Gynecol. 2006, 107:216-218.
53. American College of Obstetricians and Gynecologists ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet. Gynecol. 2007, 109:217-227.
54. Snijders R.J., et al. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group. Lancet 1998, 352:343-346.
55. Wald N.J., et al. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). Health Technol. Assess. 2003, 7:1-77.
56. Malone F.D., et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N. Engl. J. Med. 2005, 353:2001-2011.
57. Evans M.I., Andriole S. Chorionic villus sampling and amniocentesis in 2008. Curr. Opin. Obstet. Gynecol. 2008, 20:164-168.
58. Shaffer L.G., Bui T.H. Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis. Am. J. Med. Genet. C: Semin. Med. Genet. 2007, 145C:87-98.
59. Cirigliano V., et al. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR, results of 9 years of clinical experience. Prenat. Diagn. 2009, 29:40-49.
60. Boormans E.M., et al. Comparison of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis. Obstet. Gynecol. 2010, 115:297-303.
61. Toutain J., et al. First-trimester prenatal diagnosis performed on pregnant women with fetal ultrasound abnormalities: the reliability of interphase fluorescence in situ hybridization (FISH) on mesenchymal core for the main aneuploidies. Eur. J. Obstet. Gynecol. Reprod. Biol. 2010, 149:143-146.
62. Hills A., et al. QF-PCR as a stand-alone test for prenatal samples: the first 2 years' experience in the London region. Prenat. Diagn. 2010, 30:509-517.