ART’de Genetik İncelemeler ve PGT-M

Dohle GR, Halley DJ, Van Hemel JO, van den Ouwel AM, Pieters MH, Weber RF, Govaerts LC. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod. 2002 Jan;17(1):13-6

Hook EB Exclusion of chromosomal moscaicism tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet. 1977 Jan;29(1):94-7

Warburton D. De novo balanced chromosome rearrengements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet. 1991 Nov;49(5):995-1013

Delhanty JD and Wells D Preimplantation genetic diagnosis: an alternative to prenatal diagnosis. Expert Rev Mol Diagn (2002) 2,395–399

Verlinsky Y and Kuliev A. Current status of preimplantation diagnosis for single gene disorders. Reprod Biomed Online (2003) 7,145–150

Handyside AH, Lesko JG, Tarin JJ et al. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med (1992) 327,905–909

Verlinsky Y, Rechitsky S, Schoolcraft W et al. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. J Am Med Assoc (2001) 285,3130–3133

Verlinsky Y, Kuliev A,: Practical Preimplantation Genetic Diagnosis Springer, First ed. London, 2005, 29-86

Helderman-van den Enden AT, de Jong R, den Dunnen JT, Houwing-Duistermaat JJ, Kneppers AL, Ginjaar HB, Breuning MH, Bakker E. Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy. Clin Genet. 2009 May;75(5):465-72. doi: 10.1111/j.1399-0004.2009.01173.x. PMID: 19475718.

Bernardino Gomes TM, Ng YS, Pickett SJ, Turnbull DM, Vincent AE. Mitochondrial DNA disorders: from pathogenic variants to preventing transmission. Hum Mol Genet. 2021;30(R2):R245-r53.30

Hellebrekers DM, Wolfe R, Hendrickx AT, de Coo IF, de Die CE, Geraedts JP, et al. PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring. Hum Reprod Update. 2012;18(4):341-9.)

ACOG 2019, Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION, Number 793. Obstet Gynecol. 2019 Dec;134(6):e143-e149. doi: 10.1097/AOG.0000000000003562. PMID: 31764758.

Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17. Erratum in: Genet Med. 2017 Apr;19(4):484.

Porto A, Gaber Caffrey R, Crowley-Matoka M, Spencer S, Li M, Propst L. Offering preimplantation genetic testing for monogenic disorders (PGT-M) for conditions with reduced penetrance or variants of uncertain significance: Ethical insight from U.S. laboratory genetic counselors. J Genet Couns. 2022 Feb;31(1):261-268. doi: 10.1002/jgc4.1482. Epub 2021 Aug 4. PMID: 34347921.

Wilton L. Preimplantation genetic diagnosis for aneuploidy screening in early Human embryos: a review. Prenat Diagn 2002;22:512-8

Twisk M, Mastenbroek S, van Wely M, Heineman MJ, van der Veen F, Repping S. Preimplantation genetic screening for abnormal number of chromosomes (aneuploidies) in in vitro fertilisation or intracytoplasmic sperm injection. Cochrane Database Syst Rev 2006;1:CD005291

Gianaroli L, Magli C, Ferraretti A and Munne´ S. Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with poor prognosis: identification of the categories for which it should be proposed. Fertil Steril (1999) 72,837–844.

Montag M, van der Ven K, Dorn C, vander Ven H. Outcome of laser-assisted polar body biopsy and aneuploidy testing. Reprod Biomed Online 2004;9:425-9

Munne´ S, Magli C, Cohen J, Morton P, Sadowy S, Gianaroli L, Tucker M, Marquuez C, Sable D, Ferraretti AP, Massey JB and Scott R. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum Reprod (1999) 14,2191–2199

Munne´ S, Sandalinas M, Escudero T, Velilla E, Walmsley R, Sadowy S, Cohen J and Sable D. Improved implantation after preimplantation genetic diagnosis of aneuploidy. RBM Online (2003) 7,91–97

Sebastiaan M, Moniek T, Jannie van E, Birgit S, Johanna C etal In Vitro Fertilization with Preimplantation Genetic Screening: The New England J Medicine, 2007, July 5, 357;1 (9-17)

Greco E, Minasi MG, Fiorentino F. Healthy Babies after Intrauterine Transfer of Mosaic Aneuploid Blastocysts. N Engl J Med. 2015 Nov 19;373(21):2089-90. doi: 10.1056/NEJMc1500421. PMID: 26581010.

Munné S, Blazek J, Large M, Martinez-Ortiz PA, Nisson H, Liu E, Tarozzi N, Borini A, Becker A, Zhang J, Maxwell S, Grifo J, Babariya D, Wells D, Fragouli E. Detailed investigation into the cytogenetic constitution and pregnancy outcome of replacing mosaic blastocysts detected with the use of high-resolution next-generation sequencing. Fertil Steril. 2017 Jul;108(1):62-71.e8. doi: 10.1016/j.fertnstert.2017.05.002. Epub 2017 Jun 1. PMID: 28579407.

Spinella F, Fiorentino F, Biricik A, Bono S, Ruberti A, Cotroneo E, Baldi M, Cursio E, Minasi MG, Greco E. Extent of chromosomal mosaicism influences the clinical outcome of in vitro fertilization treatments. Fertil Steril. 2018 Jan;109(1):77-83. doi: 10.1016/j.fertnstert.2017.09.025. Epub 2017 Nov 28. PMID: 29191449.

Spinner NB, Conlin LK. Mosaicism and clinical genetics. Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):397-405. doi: 10.1002/ajmg.c.31421. Epub 2014 Nov 25. PMID: 25424979.

Wallerstein R, Misra S, Dugar RB, Alem M, Mazzoni R, Garabedian MJ. Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations. Prenat Diagn. 2015 Sep;35(9):841-7. doi:10.1002/pd.4620. Epub 2015 Jun 23. PMID: 25976239.

Franasiak JM, Forman EJ, Hong KH, Werner MD, Upham KM, Treff NR, Scott RT Jr. The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening. Fertil Steril. 2014 Mar;101(3):656-663.e1. doi: 10.1016/j.fertnstert.2013.11.004. Epub 2013 Dec 17.

Treff NR, Marin D. The "mosaic" embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy. Fertil Steril. 2021 Nov;116(5):1205-1211. doi: 10.1016/j.fertnstert.2021.06.027. Epub 2021 Jul 23.

Dohle GR, Halley DJ, Van Hemel JO, van den Ouwel AM, Pieters MH, Weber RF, Govaerts LC. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod. 2002 Jan;17(1):13-6

Hook EB Exclusion of chromosomal moscaicism tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet. 1977 Jan;29(1):94-7

Warburton D. De novo balanced chromosome rearrengements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet. 1991 Nov;49(5):995-1013

Delhanty JD and Wells D Preimplantation genetic diagnosis: an alternative to prenatal diagnosis. Expert Rev Mol Diagn (2002) 2,395–399

Verlinsky Y and Kuliev A. Current status of preimplantation diagnosis for single gene disorders. Reprod Biomed Online (2003) 7,145–150

Handyside AH, Lesko JG, Tarin JJ et al. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med (1992) 327,905–909

Verlinsky Y, Rechitsky S, Schoolcraft W et al. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. J Am Med Assoc (2001) 285,3130–3133

Verlinsky Y, Kuliev A,: Practical Preimplantation Genetic Diagnosis Springer, First ed. London, 2005, 29-86

Helderman-van den Enden AT, de Jong R, den Dunnen JT, Houwing-Duistermaat JJ, Kneppers AL, Ginjaar HB, Breuning MH, Bakker E. Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy. Clin Genet. 2009 May;75(5):465-72. doi: 10.1111/j.1399-0004.2009.01173.x. PMID: 19475718.

Bernardino Gomes TM, Ng YS, Pickett SJ, Turnbull DM, Vincent AE. Mitochondrial DNA disorders: from pathogenic variants to preventing transmission. Hum Mol Genet. 2021;30(R2):R245-r53.30

Hellebrekers DM, Wolfe R, Hendrickx AT, de Coo IF, de Die CE, Geraedts JP, et al. PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring. Hum Reprod Update. 2012;18(4):341-9.)

ACOG 2019, Hereditary Cancer Syndromes and Risk Assessment: ACOG COMMITTEE OPINION, Number 793. Obstet Gynecol. 2019 Dec;134(6):e143-e149. doi: 10.1097/AOG.0000000000003562. PMID: 31764758.

Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17. Erratum in: Genet Med. 2017 Apr;19(4):484.

Porto A, Gaber Caffrey R, Crowley-Matoka M, Spencer S, Li M, Propst L. Offering preimplantation genetic testing for monogenic disorders (PGT-M) for conditions with reduced penetrance or variants of uncertain significance: Ethical insight from U.S. laboratory genetic counselors. J Genet Couns. 2022 Feb;31(1):261-268. doi: 10.1002/jgc4.1482. Epub 2021 Aug 4. PMID: 34347921.

Wilton L. Preimplantation genetic diagnosis for aneuploidy screening in early Human embryos: a review. Prenat Diagn 2002;22:512-8

Twisk M, Mastenbroek S, van Wely M, Heineman MJ, van der Veen F, Repping S. Preimplantation genetic screening for abnormal number of chromosomes (aneuploidies) in in vitro fertilisation or intracytoplasmic sperm injection. Cochrane Database Syst Rev 2006;1:CD005291

Gianaroli L, Magli C, Ferraretti A and Munne´ S. Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with poor prognosis: identification of the categories for which it should be proposed. Fertil Steril (1999) 72,837–844.

Montag M, van der Ven K, Dorn C, vander Ven H. Outcome of laser-assisted polar body biopsy and aneuploidy testing. Reprod Biomed Online 2004;9:425-9

Munne´ S, Magli C, Cohen J, Morton P, Sadowy S, Gianaroli L, Tucker M, Marquuez C, Sable D, Ferraretti AP, Massey JB and Scott R. Positive outcome after preimplantation diagnosis of aneuploidy in human embryos. Hum Reprod (1999) 14,2191–2199

Munne´ S, Sandalinas M, Escudero T, Velilla E, Walmsley R, Sadowy S, Cohen J and Sable D. Improved implantation after preimplantation genetic diagnosis of aneuploidy. RBM Online (2003) 7,91–97

Sebastiaan M, Moniek T, Jannie van E, Birgit S, Johanna C etal In Vitro Fertilization with Preimplantation Genetic Screening: The New England J Medicine, 2007, July 5, 357;1 (9-17)

Greco E, Minasi MG, Fiorentino F. Healthy Babies after Intrauterine Transfer of Mosaic Aneuploid Blastocysts. N Engl J Med. 2015 Nov 19;373(21):2089-90. doi: 10.1056/NEJMc1500421. PMID: 26581010.

Munné S, Blazek J, Large M, Martinez-Ortiz PA, Nisson H, Liu E, Tarozzi N, Borini A, Becker A, Zhang J, Maxwell S, Grifo J, Babariya D, Wells D, Fragouli E. Detailed investigation into the cytogenetic constitution and pregnancy outcome of replacing mosaic blastocysts detected with the use of high-resolution next-generation sequencing. Fertil Steril. 2017 Jul;108(1):62-71.e8. doi: 10.1016/j.fertnstert.2017.05.002. Epub 2017 Jun 1. PMID: 28579407.

Spinella F, Fiorentino F, Biricik A, Bono S, Ruberti A, Cotroneo E, Baldi M, Cursio E, Minasi MG, Greco E. Extent of chromosomal mosaicism influences the clinical outcome of in vitro fertilization treatments. Fertil Steril. 2018 Jan;109(1):77-83. doi: 10.1016/j.fertnstert.2017.09.025. Epub 2017 Nov 28. PMID: 29191449.

Spinner NB, Conlin LK. Mosaicism and clinical genetics. Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):397-405. doi: 10.1002/ajmg.c.31421. Epub 2014 Nov 25. PMID: 25424979.

Wallerstein R, Misra S, Dugar RB, Alem M, Mazzoni R, Garabedian MJ. Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations. Prenat Diagn. 2015 Sep;35(9):841-7. doi:10.1002/pd.4620. Epub 2015 Jun 23. PMID: 25976239.

Franasiak JM, Forman EJ, Hong KH, Werner MD, Upham KM, Treff NR, Scott RT Jr. The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening. Fertil Steril. 2014 Mar;101(3):656-663.e1. doi: 10.1016/j.fertnstert.2013.11.004. Epub 2013 Dec 17.

Treff NR, Marin D. The "mosaic" embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy. Fertil Steril. 2021 Nov;116(5):1205-1211. doi: 10.1016/j.fertnstert.2021.06.027. Epub 2021 Jul 23.