Optimization of techniques for multiple platform testing in small, precious samples such as human chorionic villus sampling

Prenatal Diagnosis

Volumn 36, Issue 11, 2016, Pages 1061-1070

  Pisarska, Margareta D ^a,b   Akhlaghpour, Marzieh ^a   Lee, Bora ^a   Barlow, Gillian M ^a   Xu, Ning ^a   Wang, Erica T ^a,b   Mackey, Aaron J ^c   Farber, Charles R ^c   Rich, Stephen S ^c   Rotter, Jerome I ^d   Chen, Yii der I ^d   Goodarzi, Mark O ^a   Guller, Seth ^e   Williams, John ^a,b  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF VIRGINIA   (United States)

^d HARBOR UCLA MEDICAL CENTER   (United States)

^e YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BISULFITE; DNA; INHIBIN B; PROTEIN FOS; RNA; TRANSFORMING GROWTH FACTOR BETA1;

ARTICLE; CHORION VILLUS; CHORION VILLUS SAMPLING; DNA ISOLATION; EPIGENETICS; GENE EXPRESSION; HEATING; HUMAN; HUMAN TISSUE; METHYLATION; PERSONALIZED MEDICINE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ISOLATION; RNA SEQUENCE; CELL CULTURE TECHNIQUE; FEMALE; ISOLATION AND PURIFICATION; LABORATORY TECHNIQUE; PREGNANCY;

CELL CULTURE TECHNIQUES; CHORIONIC VILLI SAMPLING; CLINICAL LABORATORY TECHNIQUES; DNA; FEMALE; HUMANS; PREGNANCY; RNA;

EID: 84994879791     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4936     Document Type: Article

References (46)

1. Xanthopoulou AG, Anagnostopoulos AK, Thanasopoulou A, et al. The proteome of normal human chorionic villus sampling cells. In Vivo 2011;25(6):945–61.
2. Dekker GA, Sibai BM. Etiology and pathogenesis of preeclampsia: current concepts. Am J Obstet Gynecol 1998;179(5):1359–75.
3. Page NM, Kemp CF, Butlin DJ, et al. Placental peptides as markers of gestational disease. Reproduction 2002;123(4):487–95.
4. Keelan JA, Blumenstein M, Helliwell RJ, et al. Cytokines, prostaglandins and parturition—a review. Placenta. 2003;24 Suppl A:S33–46.
5. Yatsenko SA, Davis S, Hendrix NW, et al. Application of chromosomal microarray in the evaluation of abnormal prenatal findings. Clin Genet 2013;84(1):47–54.
6. Chu T, Yeniterzi S, Rajkovic A, et al. High resolution non-invasive detection of a fetal microdeletion using the GCREM algorithm. Prenat Diagn 2014;34(5):469–77.
7. Novakovic B, Saffery R. The ever growing complexity of placental epigenetics—role in adverse pregnancy outcomes and fetal programming. Placenta 2012;33(12):959–70.
8. Feinberg AP. Genome-scale approaches to the epigenetics of common human disease. Virchows Arch. 2010;456:13–21.
9. Feinberg AP, Irizarry RA, Fradin D, et al. Personalized epigenomic signatures that are stable over time and covary with body mass index. Sci Transl Med. 2010;2(49):49ra67, DOI: 10.1126/scitranslmed.3001262.
10. Monk D, Arnaud P, Apostolidou S, et al. Limited evolutionary conservation of imprinting in the human placenta. Proc Natl Acad Sci U S A 2006;103(17):6623–8.
11. Monk M, Salpekar A. Expression of imprinted genes in human preimplantation development. Mol Cell Endocrinol. 2001;183 Suppl 1:S35–40.
12. Jirtle RL, Sander M, Barrett JC. Genomic imprinting and environmental disease susceptibility. Environ Health Perspect 2000;108(3):271–8.
13. American College of O, Gynecologists. ACOG Practice Bulletin No. 97: Fetal lung maturity. Obstetrics and gynecology. 2008;112(3):717–26.
14. Neerhof MG, Haney EI, Silver RK, et al. Lamellar body counts compared with traditional phospholipid analysis as an assay for evaluating fetal lung maturity. Obstetrics and gynecology 2001;97(2):305–9.
15. Winn-McMillan T, Karon BS. Comparison of the TDx-FLM II and lecithin to sphingomyelin ratio assays in predicting fetal lung maturity. American journal of obstetrics and gynecology 2005;193 (3 Pt 1):778–82.
16. Haymond S, Luzzi VI, Parvin CA, et al. A direct comparison between lamellar body counts and fluorescent polarization methods for predicting respiratory distress syndrome. American journal of clinical pathology 2006;126(6):894–9.
17. Karcher R, Sykes E, Batton D, et al. Gestational age-specific predicted risk of neonatal respiratory distress syndrome using lamellar body count and surfactant-to-albumin ratio in amniotic fluid. American journal of obstetrics and gynecology 2005;193(5):1680–4.
18. Mouillet JF, Ouyang Y, Coyne CB, et al. MicroRNAs in placental health and disease. American journal of obstetrics and gynecology 2015;213 (4 Suppl):S163–72.
19. Cox B, Leavey K, Nosi U, et al. Placental transcriptome in development and pathology: expression, function, and methods of analysis. American journal of obstetrics and gynecology 2015;213 (4 Suppl):S138–51.
20. Huang A, Adusumalli J, Patel S, et al. Prevalence of chromosomal mosaicism in pregnancies from couples with infertility. Fertility and sterility 2009;91(6):2355–60.
21. Wilkins-Haug L, Roberts DJ, Morton CC. Confined placental mosaicism and intrauterine growth retardation: a case-control analysis of placentas at delivery. American journal of obstetrics and gynecology 1995;172(1 Pt 1):44–50.
22. Dejmek J, Vojtassak J, Malova J. Cytogenetic analysis of 1508 spontaneous abortions originating from south Slovakia. European journal of obstetrics, gynecology, and reproductive biology. 1992;46(2-3):129–36.
23. Johnson A, Wapner RJ, Davis GH, et al. Mosaicism in chorionic villus sampling: an association with poor perinatal outcome. Obstetrics and gynecology 1990;75(4):573–7.
24. Wapner RJ, Simpson JL, Golbus MS, et al. Chorionic mosaicism: association with fetal loss but not with adverse perinatal outcome. Prenatal diagnosis 1992;12(5):347–55.
25. Kalousek DK, Barrett IJ, Gartner AB. Spontaneous abortion and confined chromosomal mosaicism. Human genetics 1992;88(6):642–6.
26. Leschot NJ, Wolf H. Is placental mosaicism associated with poor perinatal outcome? Prenatal diagnosis 1991;11(6):403–4.
27. Graham CH, Hawley TS, Hawley RG, et al. Establishment and characterization of first trimester human trophoblast cells with extended lifespan. Exp Cell Res 1993;206(2):204–11.
28. Fitzpatrick TE, Graham CH. Stimulation of plasminogen activator inhibitor-1 expression in immortalized human trophoblast cells cultured under low levels of oxygen. Exp Cell Res 1998;245(1):155–62.
29. Huber AV, Saleh L, Bauer S, et al. TNFalpha-mediated induction of PAI-1 restricts invasion of HTR-8/SVneo trophoblast cells. Placenta 2006;27(2-3):127–36.
30. Belkacemi L, Lash GE, Macdonald-Goodfellow SK, et al. Inhibition of human trophoblast invasiveness by high glucose concentrations. J Clin Endocrinol Metab 2005;90(8):4846–51.
31. Xu NBG, Cui J, Wang ET, et al. Comparison of genome-wide and gene-specific DNA methylation profiling in first trimester chorionic villi from pregnancies conceived with infertility treatments. Reproductive Sciences 2016 (in press).
32. Brosens IA. Morphological changes in the utero-placental bed in pregnancy hypertension. Clin Obstet Gynaecol 1977;4(3):573–93.
33. Khong TY, De Wolf F, Robertson WB, et al. Inadequate maternal vascular response to placentation in pregnancies complicated by pre-eclampsia and by small-for-gestational age infants. Br J Obstet Gynaecol 1986;93(10):1049–59.
34. Kim YM, Chaiworapongsa T, Gomez R, et al. Failure of physiologic transformation of the spiral arteries in the placental bed in preterm premature rupture of membranes. Am J Obstet Gynecol 2002;187(5):1137–42.
35. Smith GC, Smith MF, McNay MB, et al. First-trimester growth and the risk of low birth weight. N Engl J Med 1998;339(25):1817–22.
36. Robins JC, Heizer A, Hardiman A, et al. Oxygen tension directs the differentiation pathway of human cytotrophoblast cells. Placenta 2007;28(11-12):1141–6.
37. Katari S, Turan N, Bibikova M, et al. DNA methylation and gene expression differences in children conceived in vitro or in vivo. Human molecular genetics 2009;18(20):3769–78.
38. Novakovic B, Yuen RK, Gordon L, et al. Evidence for widespread changes in promoter methylation profile in human placenta in response to increasing gestational age and environmental/stochastic factors. BMC genomics. 2011;12:529.
39. Chan KC, Ding C, Gerovassili A, et al. Hypermethylated RASSF1A in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. Clinical chemistry 2006;52(12):2211–8.
40. Ou X, Wang H, Qu D, et al. Epigenome-wide DNA methylation assay reveals placental epigenetic markers for noninvasive fetal single-nucleotide polymorphism genotyping in maternal plasma. Transfusion 2014;54(10):2523–33.
41. Li P, Conley A, Zhang H, et al. Whole-transcriptome profiling of formalin-fixed, paraffin-embedded renal cell carcinoma by RNA-seq. BMC genomics. 2014;15:1087.
42. Yang Y, Adachi K, Sheridan MA, et al. Heightened potency of human pluripotent stem cell lines created by transient BMP4 exposure. Proc Natl Acad Sci U S A 2015;112(18):E2337–46.
43. Li L, Schust DJ. Isolation, purification and in vitro differentiation of cytotrophoblast cells from human term placenta. Reprod Biol Endocrinol 2015;13(1):71.
44. Founds SA, Conley YP, Lyons-Weiler JF, et al. Altered global gene expression in first trimester placentas of women destined to develop preeclampsia. Placenta 2009;30(1):15–24.
45. Founds SA. Bridging global gene expression candidates in first trimester placentas with susceptibility loci from linkage studies of preeclampsia. J Perinat Med 2011;39(4):361–8.
46. Eckmann-Scholz C, Bens S, Kolarova J, et al. DNA-methylation profiling of fetal tissues reveals marked epigenetic differences between chorionic and amniotic samples. PLoS One 2012;7(6):e39014.