Noninvasive Preimplantation Genetic Testing for Aneuploidy

Noninvasive Preimplantation Genetic Testing for Aneuploidy Using Cell Free DNA on Spent Culture Media

The study is conducted to evaluate the sensitivity and specificity of non-invasive preimplantation genetic testing for aneuploidy (NiPGT-A) using cell free DNA into spent culture medium (SCM).

Study Overview

• Status: Unknown
• Conditions: ICSI; Preimplantation Genetic Testing (PGT)
• Intervention / Treatment: Diagnostic test: NiPGT-A

Detailed Description

Our study is a diagnostic study, recruit 218 biopsied blastocysts from couples undergoing intracytoplasmic sperm injection (ICSI) with Preimplantation genetic testing for aneuploidy (PGT-A) or Preimplantation genetic testing for structural rearrangements (PGT-SR) indication.

Oocyte retrieval, ICSI and embryo culture are performed by routine protocol.

On day 3, each embryo was washed and cultured in single droplets. TE biopsy was conducted and 10μl SCM of biopsied embryos are collected on day 5 or day 6. Both sample types undergo whole-genome amplification (WGA) using Quanti Flour ONE dsDNA system and DNA analysis by next-generation sequencing (NGS) using NextSeq High output 150 cycles kit.

Comparison of NGS results from trophectoderm (TE) biopsy and SCM is done to identify the sensitivity and specificity of the test.

A sample size of 218 day 5/day 6 embryos will be needed.

• Study Type: Observational
• Enrollment (Anticipated): 218

Contacts and Locations

Study Locations

• Vietnam
  • Ho Chi Minh City, Vietnam
    • Recruiting
    • My Duc Hospital
  • Phu Nhuan
    • Ho Chi Minh City, Phu Nhuan, Vietnam
      • Recruiting
      • My Duc Phu Nhuan Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: ADULT; OLDER_ADULT; CHILD
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Patients undergo in vitro fertilization.

Description

Inclusion Criteria:

• Assisted Reproductive Treatment with ICSI indication
• Having PGT-A or PGT-SR indication
• Having an agreement to be enrolled into NiPGT-A study
• Having blastocyst to biopsy

Exclusion Criteria:

• In vitro maturation cycle

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patients with PGT indication; Patients undergo in vitro fertilization with PGT-A or for PGT-SR indication	Diagnostic test: NiPGT-A; NiPGT-A is the technique to screen the aneuploidy status of an embryo without invasion technique, such as biopsy. We use SCM to isolate cfDNA, then amplify and analyse the aneuploidy of embryo secreting this material using NGS technique.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Sensitivity of NiPGT-A	The ability to detect euploid embryo	4 months after recruiting
Specificity of NiPGT-A	The ability to detect aneuploid embryo	4 months after recruiting

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Successful amplification rate	Rate of SCM samples with DNA concentration after WGA greater than or equal 1ng/μl	7 days after SCM collection
Total concordance	The match NGS results from TE biopsy and SCM for ploidy and sex	14 days after SCM collection
Positive pregnancy rate	Rate of participants with serum human chorionic gonadotropin level greater than 25 mIU/mL	at 2 weeks after embryo transfer
Clinical pregnancy rate	Rate of participants with at least one gestational sac on ultrasound at 7 weeks' gestation with the detection of heart beat activity.	5 weeks after embryo transfer
Ongoing pregnancy rate	Rate of participants with detectable heart at 12 weeks' gestation or beyond, after the completion of the first transfer	At 12 weeks' gestation
Implantation rate	as the number of gestational sacs per number of embryos transferred	3 weeks after embryo transfer

Collaborators and Investigators

• Sponsor: Mỹ Đức Hospital
• Collaborators: My Duc Phu Nhuan Hospital
• Investigators: Principal Investigator: Lan N Vuong, Mỹ Đức Hospital

Study record dates

Study Major Dates

• Study Start (ACTUAL): August 15, 2020
• Primary Completion (ANTICIPATED): October 31, 2020
• Study Completion (ANTICIPATED): November 30, 2020

Study Registration Dates

• First Submitted: July 24, 2020
• First Submitted That Met QC Criteria: July 24, 2020
• First Posted (ACTUAL): July 29, 2020

Study Record Updates

• Last Update Posted (ACTUAL): September 22, 2020
• Last Update Submitted That Met QC Criteria: September 20, 2020
• Last Verified: September 1, 2020

More Information

Terms related to this study

• Keywords: Sensitivity; NiPGT-A; Cell free DNA (cfDNA); SCM
• Additional Relevant MeSH Terms: Pathologic Processes; Chromosome Aberrations; Aneuploidy
• Other Study ID Numbers: CS/BVMĐ/20/11

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No