Evidence map›Paper›PMID 40069837›Full record

SynthesisReproductive biology and endocrinology : RB&E2025

The diagnostic accuracy of preimplantation genetic testing (PGT) in assessing the genetic status of embryos: a systematic review and meta-analysis.

Kexin Chen, Zhixin Hu, Yuxuan Lian, Youzhen Han, Xiaoting Zhou, Yonggang Li, Lifeng Xiang, Weiqun Jiang, Mingying Li, Peng Zeng and 14 more

Abstract readMeta-AnalysisSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Reproductive biology and endocrinology : RB&E, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

10 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Review
  7. Article
  8. Review
  9. Review
  10. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

24 authors.

Kexin Chen *Department of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Zhixin Hu *Department of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Yuxuan Lian *Department of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Youzhen Han *Department of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Xiaoting ZhouDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Yonggang LiDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Lifeng XiangDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Weiqun JiangDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Mingying LiDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Peng ZengDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Manqin ZhangDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Xi LuoDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Yongfang XuDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Haishan ZhengDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Mei TianDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Mei WangDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Rui MaDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Jichun YangDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Yun BaiDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Ruiyu DuDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Bo DengDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China.
Ze WuDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China. wuzes2010@163.com.
Yunxiu LiDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China. lyrarshow@qq.com.
Jiacong YanDepartment of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, 650500, China. yan_jiacong@kust.edu.cn.

Funding

High level Project of Yunnan Province XDYC-MY-2022-0055High level Project of Yunnan Province YNQR-QNRC-2018-126Joint Medical Project of Kunming University of Science and Technology KUST-KH2022003ZJoint Medical Project of Kunming University of Science and Technology KUST-KH2022025YJoint Medical Project of Kunming University of Science and Technology KUST-KH2023004ZKunming University of Science and Technology Medical School research development fund project SRDP-2023-003Natural Science Foundation of China 32270981Social development projects of Yunnan Province 202302AA310044The Joint Special Funds for the Department of Science and Technology of Yunnan Province Kunming Medical University 202301AY070001-003The Joint Special Funds for the Department of Science and Technology of Yunnan Province Kunming Medical University 202301AY070001-048The Joint Special Funds for the Department of Science and Technology of Yunnan Province Kunming Medical University 202301AY070001-298Yunnan Provincial Reproductive and Obstetrics and Gynecology Clinical Medicine 2022LCZXKF-SZ05Yunnan Provincial Reproductive and Obstetrics and Gynecology Clinical Medicine 2022LCZXKF-SZ11Yunnan Provincial Reproductive and Obstetrics and Gynecology Clinical Medicine 2022LCZXKF-SZ12Yunnan Provincial Reproductive and Obstetrics and Gynecology Clinical Medicine 2022LCZXKF-SZ15Yunnan Provincial Reproductive and Obstetrics and Gynecology Clinical Medicine 2022LCZXKF-SZ17Yunnan Provincial Reproductive and Obstetrics and Gynecology Clinical Medicine 2022LCZXKF-SZ18Yunnan Provincial Young and Middle-aged Academic and Technical Leaders Reserve Talents Program 202305AC160022
6 · The paper itself

Abstract

backgroundPreimplantation genetic testing (PGT) is widely used in assisted reproduction to assess the genetic status of embryos. However, increasing evidence suggests that the trophectoderm (TE) may not fully reflect the genetic status of the inner cell mass (ICM), raising controversy about the accuracy of TE biopsy. Research in recent years has focused on cell-free DNA (cfDNA) found in blastocoel fluid (BF) and spent culture medium (SCM), as these may contain genetic information from both the TE and ICM. Therefore, further research and validation are essential to determine the reliability and clinical applicability of these diagnostic methods in PGT.

methodsRelevant studies published between January 2000 and August 2024 were identified through PubMed and Web of Science (WOS). Risk assessment and publication bias were evaluated using QUADAS-2 and Deek's test. Diagnostic meta-analysis was performed using a bivariate model to combine sensitivity and specificity, with results visualized through forest plots and summary receiver operating characteristic (SROC) curves.

resultsOut of 6,407 initially screened records, 36 studies involving 4,230 embryos were included. TE biopsy was identified as the best method for diagnosing the genetic status of embryos (sensitivity: 0.839; specificity: 0.791, AUC: 0.878), while SCM had slightly lower accuracy (sensitivity: 0.874; specificity: 0.719, AUC: 0.869). The effectiveness of BF (AUC: 0.656) was significantly lower than that of TE biopsy and SCM. Despite this, TE biopsy has not yet achieved ideal diagnostic performance. However, TE biopsies demonstrate a high level of accuracy in diagnosing PGT-SR (AUC: 0.957). Additionally, multiple TE biopsies (AUC: 0.966) or TE biopsies combined with SCM (AUC: 0.927) can enhance the diagnostic efficiency of PGT.

conclusionThe findings of this study suggest that TE biopsy has yet to achieve optimal diagnostic accuracy, which may result in a significant number of missed embryo diagnoses and misdiagnoses. Our results confirm that SCM has the potential to serve as a supplementary test. Employing multiple biopsies or combining TE with SCM may enhance diagnostic efficiency and yield optimal results.

Indexed as

BlastocystGenetic TestingPreimplantation DiagnosisBiopsyFemaleHumansPregnancyReproducibility of ResultsBlastocoel fluid (BF)Diagnostic accuracyInner cell mass (ICM)Spent culture medium (SCM)Trophectoderm (TE) biopsyWhole blastocyst (WB)

Identifiers

PMID40069837
PMCPMC11895315

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.