Pregnancy and Developmental Outcomes After Transfer of Reportedly Aneuploid or Mosaic Embryos

NCT04109846 | Recruiting

• 1 other identifier: IRB-46420
• Study Type: interventional
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

To determine how often embryos reported to be abnormal by preimplantation genetic testing result in liveborn infants. To evaluate whether the pregnancies that result from these embryos are higher risk for complications and whether the resulting babies have higher risk for health or developmental issues in the first five years after birth.

Conditions

Mosaicism; Pregnancy Outcome; Aneuploidy

Keywords

Preimplantation Genetic Testing for Aneuploidy; Preimplantation Genetic Screening; embryo transfer; mosaic; aneuploid

Outcome Measures

Primary Outcomes (1)

• Pregnancy Rate

  Number participants who undergo embryo transfers that lead to a positive pregnancy test

  3 years

Secondary Outcomes (3)

• Live birth rate

  4 years

• Obstetric complications

  4 years

• Pediatric Development

  7 years 3 months

Study Arms (2)

Non-euploid Transfer

EXPERIMENTAL

Patients desiring pregnancy who have no acceptable euploid embryos available for transfer who chose to undergo embryo transfer of a non-euploid embryo (either aneuploid or mosaic).

Other: Non-euploid embryo transfer

Euploid Transfer

ACTIVE COMPARATOR

Patients desiring pregnancy who are undergoing euploid embryo transfer

Other: Euploid Transfer

Interventions

Non-euploid embryo transfer OTHER

Other than choice of embryo for transfer, all other medical interventions will be standard of care protocols

Non-euploid Transfer

Euploid Transfer OTHER

Standard of Care Protocol

Euploid Transfer

Eligibility Criteria

• Age: 18 Years - 55 Years
• Sex: female
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)

You may qualify if:

• Available aneuploid or mosaic embryos
• No other acceptable embryos available
• Willing to travel to Stanford for treatment
• English language fluency

You may not qualify if:

• Use of international donor eggs or sperm not tested according to FDA guidelines.
• Living outside the United States
• Embryos with Triploidy are not eligible for transfer in this protocol

Sponsors & Collaborators

• Stanford University: lead

Study Sites (1)

Stanford Fertility and Reproductive Medicine Center

Sunnyvale, California, 94087, United States

RECRUITING

Related Publications (6)

• Tise CG, Verma K, Rivera-Cruz G, Chamanara S, Gerber SK, Boyd A, Mazzoni R, Nel-Themaat L, Behr B, Milki AA, Lathi RB. Healthy euploid dizygotic twin birth after transfer of nonmosaic aneuploid embryos. Fertil Steril. 2025 Nov 15;124(5 Pt 2):1016-1023. doi: 10.1016/j.fertnstert.2025.06.033. Epub 2025 Jun 25.

  PMID: 40578663 BACKGROUND

• Munne S, Spinella F, Grifo J, Zhang J, Beltran MP, Fragouli E, Fiorentino F. Clinical outcomes after the transfer of blastocysts characterized as mosaic by high resolution Next Generation Sequencing- further insights. Eur J Med Genet. 2020 Feb;63(2):103741. doi: 10.1016/j.ejmg.2019.103741. Epub 2019 Aug 21.

  PMID: 31445143 BACKGROUND

• Victor AR, Tyndall JC, Brake AJ, Lepkowsky LT, Murphy AE, Griffin DK, McCoy RC, Barnes FL, Zouves CG, Viotti M. One hundred mosaic embryos transferred prospectively in a single clinic: exploring when and why they result in healthy pregnancies. Fertil Steril. 2019 Feb;111(2):280-293. doi: 10.1016/j.fertnstert.2018.10.019.

  PMID: 30691630 BACKGROUND

• Zhang L, Wei D, Zhu Y, Gao Y, Yan J, Chen ZJ. Rates of live birth after mosaic embryo transfer compared with euploid embryo transfer. J Assist Reprod Genet. 2019 Jan;36(1):165-172. doi: 10.1007/s10815-018-1322-2. Epub 2018 Sep 24.

  PMID: 30246223 BACKGROUND

• Munne 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 BACKGROUND

• 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. No abstract available.

  PMID: 26581010 BACKGROUND

Related Links

• Stanford Fertility Research website

MeSH Terms

Conditions

Aneuploidy

Condition Hierarchy (Ancestors)

Chromosome Aberrations; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Ruth Lathi, MD

  Stanford University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ronit Mazzoni, MS

CONTACT

408-688-9892; rmazzoni@stanford.edu

REI Research Coordinator

CONTACT

408-688-9892; rei-research@lists.stanford.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Model Details: Patients desiring frozen embryo transfer or aneuploid or mosaic embryo. Patients will be counseled regarding risks and obstetric and pediatric outcomes will be collected.

Study Record Dates

• First Submitted: September 24, 2019
• First Posted: September 30, 2019
• Study Start: April 11, 2019
• Primary Completion (Estimated): April 1, 2035
• Study Completion (Estimated): April 1, 2039
• Last Updated: April 24, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)