Present and Future Perspectives on Next-Generation Sequencing Use within Current Assisted Reproductive Technologies

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Obstetrics and Gynecology".

Deadline for manuscript submissions: closed (31 October 2022) | Viewed by 2851

Special Issue Editors


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Guest Editor
Mother and Child Medicine Department, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania
Interests: human reproduction preimplantational genetic testing and rare disease endometriosis minimal invasive surgery
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Guest Editor
Royal College of Surgeons in Ireland (RCSI), Dublin, Ireland
Interests: reproductive endocrinology; the genetics of male infertility; ovulation induction

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Guest Editor
Herbert Wertheim College of Medicine, Florida International University, Miami, FL, USA
Interests: preimplantation genetic testing for monogenic/single gene defects (PGT-M)

Special Issue Information

Dear Colleagues,

There is currently an increasing trend and interest in the current literature regarding the fulminant ascension and crucial role of molecular biology that revolutionized not only the field of genomic research but also that of assisted reproductive technologies (ARTs) as well. More precisely, ART provides a plethora of advantages for many couples at the reproductive age that are struggling with infertility or other debilitating disorders. Based on this argument, next generation sequencing (NGS) has become an integrated component within the current protocols as in vitro fertilization (IVF) success depends on the quality of the embryo(s). Presently, NGS is gaining more and more attention due to its low costs; perspectives offered compared to previous methodologies and other newest advances; pre-implantation genetic screening (PGS) and high-resolution (hr-NGS) for chromosomal count and screening of the embryo(s); and establishment of the possible risk of inherited and/or de novo defects. Therefore, the purpose of the present Special Issue is to gather original research, review articles, and case reports focused on this topic in order to deepen our understanding. Additionally, contradictory and confirmatory results are welcome in terms of both human and animal models.

Dr. Bogdan Doroftei
Dr. Edgar V. Mocanu
Dr. Svetlana Rechitsky
Guest Editors

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Keywords

  • assisted reproductive technology
  • in vitro fertilization
  • next generation sequencing
  • pre-implantation genetic testing
  • clinical pregnancy
  • live birth
  • infertility
  • miscarriage
  • maternal disease
  • foetal abnormalities

Published Papers (1 paper)

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5 pages, 452 KiB  
Case Report
Successful Live Twin Birth through IVF/ICSI from a Couple with an Infertile Father with Pericentric Inversion of Chromosome 9 (p12q13): A Case with a High Aneuploidy Rate
by Ning-Shiuan Ting, Ying-Hsi Chen, Shih-Fen Chen and Pao-Chu Chen
Medicina 2022, 58(11), 1646; https://doi.org/10.3390/medicina58111646 - 14 Nov 2022
Cited by 3 | Viewed by 2475
Abstract
Evidence suggests that the pericentric inversion of chromosome 9 (inv(9)) does not affect the aneuploidy rate (38.5%) after IVF. Herein, we report a successful live female twin birth through IVF/ICSI with a high aneuploidy rate from a couple within which the infertile father [...] Read more.
Evidence suggests that the pericentric inversion of chromosome 9 (inv(9)) does not affect the aneuploidy rate (38.5%) after IVF. Herein, we report a successful live female twin birth through IVF/ICSI with a high aneuploidy rate from a couple within which the infertile father has inv(9)(p12q13). A couple (a 34-year-old male and a 35-year-old female) was referred to our clinic due to infertility. The wife has a child with her previous husband. Results from the infertility workup of both parents were normal. Karyotyping revealed that the inv(9)(p12q13) of the father was the only cytogenetic abnormality. Preimplantation genetic testing for aneuploidies (PGT-A) after IVF/ICSI revealed a high aneuploidy rate (77%; 10/13). Two euploid blastocysts were transferred, resulting in a successful live female twin birth. The presented case highlights the possibility that inv(9)(p12q13) in males may impact the fertility and euploidy rate. PGT-A facilitates the selection of qualified blastocysts for the optimization of live-birth outcomes. Full article
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