The reported successful baby delivery after preimplantation genetic testing for aneuploidies (PGT-A) by means of next generation sequencing (NGS)

Authors

  • N.P. Nigmatova
  • B.Zh. Abdilmanova
  • V.N. Schigolev

DOI:

https://doi.org/10.37800/RM2020-1-10

Keywords:

ART, IVF, NGS, PGT-A, TE (trophectoderm)

Abstract

The aim of this case report is to demonstrate a successful delivery of a baby after transfer of a blastocyst tested for aneuplodies by means of NGS. A woman aged 35 having two miscarriages decided for ICSI program with PGT-A analysis. Six eggs were fertilized out of 9 metaphase II oocytes. Five good quality blastocysts were submitted for genetic screening using 24-chromosome next generation sequencing (NGS). Two blastocysts were diagnosed as euploid and recommended for transfer. One euploid blastocyst was thawed and transferred to the patient’s uterus lining. Successful pregnancy was confirmed at 7 weeks of gestation with heartbeat. Successful delivery was achieved by Caesarean section at 38-39 weeks of gestation. Karyotyping demonstrated healthy genetic constitution of a baby. This case demonstrates a good evidence and potential of a transport scheme collaboration between IVF and genetic laboratories.

References

Hassold T, Chen N, Funkhouser J, Jooss T, Manuel B, Matsuura J et al. A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet 1980; 44: 151-78. https://doi.org/10.1111/j.1469-1809.1980.tb00955.x

Petracchi F, Colaci DS, Igarzabal L, Gadow E. Cytogenetic analysis of first trimester pregnancy loss. Int J Gynaecol Obstet 2009; 104: 243-44. https://doi.org/10.1016/j.ijgo.2008.10.014.

Zegers-Hochschild F, Adamson GD, Dyer S, Racowsky C, De Mouzon J, Sokol R et al. The international glossary on infertility and fertility care. Fertil Steril 2017; 108(3): 0015-0282. https://Dx.doi.org/10.1016/j.fertnstert.2017.06.005

Delhanty JD, Griffin DK, Handyside AH, Harper J, Atkinson GH, Pieters MH et al. Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in situ hybridization (FISH). Hum Mol Genet 1993; 2(8): 1183-85. https://doi.org/10.1093/hmg/2.8.1183

Munné S, Magli C, Bahce M, Fung J, Legator M, Morrison L. Preimplantation diagnosis of the aneuploidies most commonly found in spontaneous abortions and live births: XY, 13, 14, 15, 16, 18, 21, 22. Prena.t Diagn. 1998; 18(13): 1459-66. DOI: 10.1002/(sici)1097-0223(199812)18:13<1459:aid-pd514>3.0.co;2-v

Yang Z, Lin J, Zhang J, Fong WI, Li P, Zhao R. Randomized comparison of next-generation sequencing and array comparative genomic hybridization for preimplantation genetic screening; a pilot study. BMC Med Genom 2015; 8: 30. https://doi.org/10.1186/s12920-015-0110-4

Fiorentino F, Biricik A, Bono S, Spizzichino L, Cotroneo E, Cottone G et al. Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos. Fertil Steril 2014; 101: 1375-82. https://doi.org/10.1016/j.fertnstert.2014.01.051

Friedenthal J, Maxwell S, Munné S, Kramer Y, McCulloh D, McCaffrey C et al. Next generation sequencing for preimplantation genetic screening improves pregnancy outcomes compared with array comparative genomic hybridization in single thawed euploid embryo transfer cycles. Fertil Steril 2018; 109(4): 627-32. https://doi.org/10.1016/j.fertnstert.2017.12.017

Munné S, Wells D. Detection of mosaicism at blastocyst stage with the use of high-resolution next-generation sequencing. Fertil Steril 2017; 107: 1085-91. https://doi.org/10.1016/j.fertnstert.2017.03.024

Munné S, Blazek J, Large M, Martinez-Ortiz PA, Nisson H, Liu 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; 108: 62-71e8. https://doi.org/10.1016/j.fertnstert.2017.05.002

Aleksandrova NV, Shubina ES, Ekimov AN, Kodyleva TA, Mukosey IS, Makarova NP et al. Comparative results of preimplantation genetic screening by array comparative genomic hybridization and new-generation sequencing. Mol Biol 2017; 51(2): 269-73. https://doi.org/10.7868/S0026898417010025

World health organization (WHO) laboratory manual for the examination and processing of human semen. 5th edition. 2010. ISBN: 978 92 4 154778 9

Scott L, Alvero R, Leondires M, Miller B. The morphology of human pronuclear embryos is positiviely related to blastocyst development and implantation. Hum. Reprod. 2000; 15: 2394-403. https://doi.org/10.1093/humrep/15.11.2394

Gardner DK, Schoolcraft WB. In vitro culture of human blastocysts. In Jansen, R. and Mortimer, D. (eds). Toward Reproductive Certainty: Fertility and Genetics Beyond 1999. London: Parthenon Publishing; 1999a, p. 378–388.

Gardner DK, Schoolcraft WB. Culture and transfer of human blastocysts. Curr Opin Obstet Gynecol 1999b ; 11: 307–331. https://doi.org/10.1097/00001703-199906000-00013

Kuwayama M. Highly efficient vitrification for cryopreservation of human oocytes and embryos: the Cryotop method. Theriogenol 2007; 67(1): 73-80. https://doi.org/10.1016/j.theriogenology.2006.09.014

Maalouf W. Setting up PGD lab. In: Varghese AC, Sjoblom P, Jayaprakasan K, editors. A practical guide to setting up an IVF Lab, embryo culture systems and running the unit. Jaypee Brothers Medical Publishers Pvt Ltd; 2013, Ch. 6, p. 61-68. ISBN 978-93-5090-516-6.

Kung A, Munné S, Bankowski B, Coates A, Wells D. Validation of next-generation sequencing for comprehensive chromosome screening of embryos. Reprod Biomed Online 2015; 31: 760-69. https://doi.org/10.1016/j.rbmo.2015.09.002

Handyside AH. 24-chromosome copy number analysis: a comparison of available technologies. Fertil Steril 2013; 100: 595-602. https://doi.org/10.1016/j.fertnstert.2013.07.1965

ESHRE Special Interest Group of Embryology and Alpha Scientists in reproductive Medicine. 2017. The Vienna consensus: report of an expert meeting on the development of ART laboratory performance indicators. Reprod. Biomed. Online. https://doi.org/10.1016/j.rbmo.2017.06.015

Ubaldi FM, Capalbo A, Colamaria S, Ferrero S, Maggiulli R, Vajta G. Reduction of multiple pregnancies in the advanced maternal age population after implementation of an elective single embryo transfer policy coupled with enhanced embryo selection: pre- and post-intervention study. Hum Reprod 2015; 30(9): 2097-106. https://doi.org/10.1093/humrep/dev159

The Act, №627, of Minister of the Republic of Kazakhstan. The rules to conduct assisted reproductive technologies (ART) in Kazakhstan. 2009. https://doi.org/10.1530/REP-17-0683

Additional Files

Published

2020-07-01

How to Cite

[1]
Nigmatova Н., Abdilmanova Б. and Schigolev В. 2020. The reported successful baby delivery after preimplantation genetic testing for aneuploidies (PGT-A) by means of next generation sequencing (NGS). Reproductive Medicine (Central Asia). 2 (43) (Jul. 2020), 13–16. DOI:https://doi.org/10.37800/RM2020-1-10.