Isolation of Cell Free Fetal DNA From Spent Culture Medium and Its Potential Role for Preimplantation Genetic Diagnosis (PGD).

NCT06084377 | Completed

• 1 other identifier: UDFP-Biochem-01-2023
• Study Type: observational
• Target: 27
• Locations: 1 country
• Sites: 1

Brief Summary

Preimplantation genetic testing for chromosomal screening is, at present, the most reliable method to assess the genetic status of preimplantation embryos. DNA isolated and amplified from trophectoderm (TE) biopsiesis the method currently used for preimplantation genetic testing, but it has significant limitations. There is increasing evidence for a ''true'' noninvasive approach consisting of the analysis of cell-free DNA (cfDNA) released by the embryo into the spent blastocyst medium (SBM) during the late stages of preimplantation development. This study is to assess whether Noninvasive prenatal genetic diagnosis using cell-free fetal DNA in spent culture medium will substitute for trophectoderm biopsy for heritable disorders screening and if it represents the total fetal genomic DNA. A total of 27 spent blastocyst media (SBM) from women undergoing IVF will be enrolled with agesless than44 years, whose indications for preimplantation genetic diagnosis for Euploid/Aneuploid embryo determination, were advanced maternal age, recurrent miscarriage, or recurrent implantation failure.We examined the presence of the cell free DNA in spent culture media and whether this DNA is reliable and can be representative of the chromosomal constitution of a blastocyst. So we can affirm that Noninvasive prenatal determination of fetal sex using cell-free fetal DNA (used here as a marker) provides an alternative to invasive techniques for some heritable disorders.

Conditions

Females Undergoing PGD Technology for Medical Conditions

Keywords

Preimplantation Genetic Diagnosis, Spent Culture Medium, cell-free fetal DNA, trophectoderm biopsy

Outcome Measures

Primary Outcomes (1)

• Efficacy of cell free fetal DNA isolated from spent culture medium

  Efficacy of cell free fetal DNA isolated from spent culture medium by Degenerate Oligonucleotide Primed PCR (DOP-PCR)-based Whole Genome Amplification (WGA) for preimplantation genetic analysis.

  At Day 5 of ICSI

Secondary Outcomes (1)

• Increasing the live birth rate, increasing the chances of obtaining embryos free of genetic diseases, and the implantation rate.

  9 Months

Interventions

Preimplantation Genetic Screening GENETIC

Non-invasive technique to investigate the presence of genetic disorders.

Also known as: PGS

Eligibility Criteria

• Age: 22 Years - 44 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The study samples will be collected from couples attending Orient Hospital (assisted reproduction and genetics) to carry out the in vitro fertilization process and would like to perform PGD for gender selection. After obtaining the approval of the ethical committee of Damascus University, they will be informed of the research objectives and sign the approve consent.

You may qualify if:

• At least two blastocysts suitable for PGD. Only embryos achieving a grade 1 (fragmentation less than 15%).

Sponsors & Collaborators

• Damascus University: lead

Study Sites (1)

Damascus University

Damascus, Syria

Location

Related Publications (6)

• Huang J, Rong L, Zeng L, Hu L, Shi J, Cai L, Yao B, Wang XX, Xu Y, Yao Y, Wang Y, Zhao J, Guan Y, Qian W, Hao G, Lu S, Liu P, Qiao J. Embryo selection through non-invasive preimplantation genetic testing with cell-free DNA in spent culture media: a protocol for a multicentre, double-blind, randomised controlled trial. BMJ Open. 2022 Jul 27;12(7):e057254. doi: 10.1136/bmjopen-2021-057254.

  PMID: 35896299 BACKGROUND

• Sousa LN, Monteiro PB. Non-invasive preimplantation genetic testing: a literature review. JBRA Assist Reprod. 2022 Aug 4;26(3):554-558. doi: 10.5935/1518-0557.20210102.

  PMID: 35238503 RESULT

• Rubio C, Rienzi L, Navarro-Sanchez L, Cimadomo D, Garcia-Pascual CM, Albricci L, Soscia D, Valbuena D, Capalbo A, Ubaldi F, Simon C. Embryonic cell-free DNA versus trophectoderm biopsy for aneuploidy testing: concordance rate and clinical implications. Fertil Steril. 2019 Sep;112(3):510-519. doi: 10.1016/j.fertnstert.2019.04.038. Epub 2019 Jun 11.

  PMID: 31200971 RESULT

• Navarro-Sanchez L, Garcia-Pascual C, Rubio C, Simon C. Non-invasive preimplantation genetic testing for aneuploidies: an update. Reprod Biomed Online. 2022 May;44(5):817-828. doi: 10.1016/j.rbmo.2022.01.012. Epub 2022 Jan 31.

  PMID: 35307298 RESULT

• Yang L, Lv Q, Chen W, Sun J, Wu Y, Wang Y, Chen X, Chen X, Zhang Z. Presence of embryonic DNA in culture medium. Oncotarget. 2017 Jun 29;8(40):67805-67809. doi: 10.18632/oncotarget.18852. eCollection 2017 Sep 15.

  PMID: 28978073 RESULT

• Cornelisse S, Zagers M, Kostova E, Fleischer K, van Wely M, Mastenbroek S. Preimplantation genetic testing for aneuploidies (abnormal number of chromosomes) in in vitro fertilisation. Cochrane Database Syst Rev. 2020 Sep 8;9(9):CD005291. doi: 10.1002/14651858.CD005291.pub3.

  PMID: 32898291 RESULT

Related Links

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Biospecimen

Retention: SAMPLES WITH DNA

Spent Culture Medium(SCM)

Study Officials

• Marwan Alhalabi, PhD

  Damascus University

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 11, 2023
• First Posted: October 16, 2023
• Study Start: May 18, 2020
• Primary Completion: April 5, 2023
• Study Completion: September 23, 2023
• Last Updated: October 18, 2023

Record last verified: 2023-10

Locations

SY (1)