The Evolving Role of Genetics in Reproductive Medicine

Obstetrics and Gynecology Clinics of North America

Volumn 41, Issue 1, 2014, Pages 41-55

  Brezina, Paul R ^a,b,c   Kearns, William G ^d,e  

^a Fertility Associates of Memphis   (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^c ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^d DEPARTMENT OF PATHOLOGY   (United States)

^e LABORATORY CORPORATION OF AMERICA   (United States)

Author keywords

Amniocentesis; Cell free DNA; Chorionic villus sampling; Genetics; Preimplantation; Preimplantation genetic diagnosis; Preimplantation genetic screening; Reproductive

Indexed keywords

AMNIOCENTESIS; CELL-FREE DNA; CHORIONIC VILLUS SAMPLING; GENETICS; PREIMPLANTATION; PREIMPLANTATION GENETIC DIAGNOSIS; PREIMPLANTATION GENETIC SCREENING; REPRODUCTIVE;

AMNIOCENTESIS; CHORIONIC VILLI SAMPLING; FEMALE; GENETIC COUNSELING; GENETIC TESTING; HUMANS; PREGNANCY; PREIMPLANTATION DIAGNOSIS; REPRODUCTIVE MEDICINE;

EID: 84894904513     PISSN: 08898545     EISSN: 15580474     Source Type: Journal    
DOI: 10.1016/j.ogc.2013.10.006     Document Type: Review

References (45)

1. Strom C.M., Crossley B., Buller-Buerkle A., et al. Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis. Genet Med 2011, 13(2):166-172.
2. Pletcher B.A., Bocian M., American College of Medical Genetics Preconception and prenatal testing of biologic fathers for carrier status. American College of Medical Genetics. Genet Med 2006, 8(2):134-135.
3. ACOG Committee on Genetics ACOG Committee Opinion No. 442: preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol 2009, 114(4):950-953.
4. American College of Obstetricians and Gynecologists Committee on Genetics ACOG Committee Opinion No. 486: update on carrier screening for cystic fibrosis. Obstet Gynecol 2011, 117(4):1028-1031.
5. Bodurtha J., Strauss J.F. Genomics and perinatal care. NEngl J Med 2012, 366(1):64-73.
6. Simpson J.L. Invasive procedures for prenatal diagnosis: any future leftα. Best Pract Res Clin Obstet Gynaecol 2012, 26(5):625-638.
7. Go A.T., van Vugt J.M., Oudejans C.B. Non-invasive aneuploidy detection using free fetal DNA and RNA in maternal plasma: recent progress and future possibilities. Hum Reprod Update 2011, 17(3):372-382.
8. Ehrich M., Deciu C., Zwiefelhofer T., et al. Noninvasive detection of fetal trisomy 21by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011, 204(3):205.e1-205.e11.
9. Chiu R.W., Akolekar R., Zheng Y.W., et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011, 342:c7401. 10.1136/bmj.c7401.
10. Rizzo J.M., Buck M.J. Key principles and clinical applications of "next-generation" DNA sequencing. Cancer Prev Res (Phila) 2012, 5:887-900.
11. Kido S., Sakuragi N., Bronner M.P., et al. D21S418E identifies a cAMP-regulatedgene located on chromosome 21q22.3 that is expressed in placental syncytiotrophoblast and choriocarcinoma cells. Genomics 1993, 17(1):256-259.
12. Brezina P.R., Benner A., Rechitsky S., et al. Single-gene testing combined with single nucleotide polymorphism microarray preimplantation genetic diagnosis for aneuploidy: a novel approach in optimizing pregnancy outcome. Fertil Steril 2011, 95:1786.
13. Brezina P.R., Brezina D.S., Kearns W.G. Preimplantation genetic testing. BMJ 2012, 345:e5908.
14. ACOG Committee Opinion No. 430: preimplantation genetic screening for aneuploidy. Obstet Gynecol 2009, 113(3):766-767.
15. Handyside A., Kontogianni E.H., Hardy K., et al. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 1990, 344:768-770.
16. Practice Committee of Society for Assisted Reproductive Technology, Practice Committee of American Society for Reproductive Medicine Preimplantation genetic testing: a Practice Committee opinion. Fertil Steril 2008, 90:S136-S143.
17. Hassold T., Chen N., Funkhouser J., et al. Acytogenetic study of 1000 spontaneous abortions. Ann Hum Genet 1980, 44:151-178.
18. Menasha J., Levy B., Hirschhorn K., et al. Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study. Genet Med 2005, 7:251-263.
19. Verlinsky Y., Cieslak J., Freidine M., et al. Pregnancies following preconception diagnosis of common aneuploidies by fluorescent in-situ hybridization. Hum Reprod 1995, 10:1923-1927.
20. Laurie A.D., Hill A.M., Harraway J.R., et al. Preimplantation genetic diagnosis for hemophilia A using indirect linkage analysis and direct genotyping approaches. JThromb Haemost 2010, 8:783-789.
21. Cirulli E.T., Goldstein D.B. Uncovering the roles of rare variants in common disease through whole genome sequencing. Nat Rev Genet 2010, 11:415-425.
22. Kuliev A., Verlinsky Y. Current features of preimplantation genetic diagnosis. Reprod Biomed Online 2002, 5(3):294-299.
23. Treff N.R., Northrop L.E., Kasabwala K., et al. Single nucleotide polymorphism microarray-based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos. Fertil Steril 2011, 95(5):1606-1612.e2.
24. Otani T., Roche M., Mizuike M., et al. Preimplantation genetic diagnosis significantly improves the pregnancy outcome of translocation carriers with a history of recurrent miscarriage and unsuccessful pregnancies. Reprod Biomed Online 2006, 13(6):869-874.
25. Du L., Brezina P.R., Benner A.T., et al. The rate of de novo and inherited aneuploidy as determined by 23-chromosome single nucleotide polymorphism microarray (SNP) in embryos generated from parents with known chromosomal translocations. Fertil Steril 2011, 96(3):S221.
26. Brezina P.R., Zhao Y. The ethical, legal, and social issues impacted by modern assisted reproductive technologies. Obstet Gynecol Int 2012, 2012:686253.
27. Ajduk A., Zernicka-Goetz M. Advances in embryo selection methods. F1000 Biol Rep 2012, 4:11.
28. Monni G., Ibba R.M., Zoppi M.A. Prenatal genetic diagnosis through chorionic villus sampling. Genetic disorders and the fetus 2010, Wiley-Blackwell, Oxford (United Kingdom). 6th edition. A. Milunsky, J.M. Milunsky (Eds.).
29. Kearns W.G., Pen R., Graham J., et al. Preimplantation genetic diagnosis and screening. Semin Reprod Med 2005, 23(4):336-347.
30. Schoolcraft W.B., Fragouli E., Stevens J., et al. Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril 2010, 94:1700-1706.
31. Brezina P.R., Kearns W.G. Preimplantation genetic screening in the age of 23-chromosome evaluation; why FISH is no longer an acceptable technology. JFertiliz InVitro 2011, 1:e103.
32. Mastenbroek S., Twisk M., Echten-Arends J., et al. Invitro fertilization with preimplantation genetic screening. NEngl J Med 2007, 357:9-17.
33. Checa M.A., Alonso-Coello P., Solà I., et al. IVF/ICSI with or without preimplantation genetic screening for aneuploidy in couples without genetic disorders: a systematic review and meta-analysis. JAssist Reprod Genet 2009, 26:273-283.
34. Mastenbroek S., Twisk M., van der Veen F., et al. Preimplantation genetic screening: a systematic review and meta-analysis of RCTs. Hum Reprod Update 2011, 17:454-466.
35. Harton G.L., Magli M.C., Lundin K., European Society for Human Reproduction and Embryology (ESHRE), PGD Consortium/Embryology Special Interest Group, et al. ESHRE PGD Consortium/Embryology Special Interest Group-best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS). Hum Reprod 2011, 26:41-46.
36. Munné S., Weier H.U., Grifo J., et al. Chromosome mosaicism in human embryos. Biol Reprod 1994, 51:373-379.
37. Brezina P.R., Sun Y., Anchan R.M., et al. Aneuploid embryos as determined by 23single nucleotide polymorphism (SNP) microarray preimplantation genetic screening (PGS) possess the potential to genetically normalize during early development. Fertil Steril 2012, 98(3):S108.
38. Harper J.C., Sengupta S.B. Preimplantation genetic diagnosis: state of the art 2011. Hum Genet 2012, 131:175-186.
39. Brezina P.R., Tobler K., Benner A.T., et al. All 23 chromosomes have significant levels of aneuploidy in recurrent pregnancy loss couples. Fertil Steril 2012, 97(3):S7.
40. Brezina P.R., Tobler K., Benner A.T., et al. Invitro fertilization (IVF) cycles and 4,873embryos using 23-chromosome single nucleotide polymorphism (SNP) microarray preimplantation genetic screening (PGS). Fertil Steril 2012, 97:S23-S24.
41. Wells D., Alfarawati S., Fragouli E. Use of comprehensive chromosomal screening for embryo assessment: microarrays and CGH. Mol Hum Reprod 2008, 14:703-710.
42. Forman E.J., Tao X., Ferry K.M., et al. Single embryo transfer with comprehensive chromosome screening results in improved ongoing pregnancy rates and decreased miscarriage rates. Hum Reprod 2012, 27:1217-1222.
43. Scott R.T., Upham K.M., Forman E.J., et al. Blastocyst biopsy with comprehensive chromosome screening and fresh embryo transfer significantly increases invitro fertilization implantation and delivery rates: a randomized controlled trial. Fertil Steril 2013, 10.1016/j.fertnstert.2013.04.035.
44. Yang Z., Liu J., Collins G.S., et al. Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study. Mol Cytogenet 2012, 5:24.
45. Harper J.C., Wilton L., Traeger-Synodinos J., et al. The ESHRE PGD Consortium: 10years of data collection. Hum Reprod Update 2012, 18:234-247.