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Updated: May 10, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Errors in prenatal diagnosis
1Department of Human Metabolism, Academic Unit of Reproductive and Developmental Medicine-Obstetrics and Gynaecology, The University of Sheffield, 4th Floor, Jessop Wing, Tree Root Walk, Sheffield S10 2SF, UK. d.o.c.anumba@sheffield.ac.uk
Insights
Prenatal screening and diagnosis, vital for expectant parents, can involve errors. This review explores these diagnostic errors and proposes strategies to improve patient safety in antenatal care.
Area of Science:
- Obstetrics and Gynecology
- Medical Diagnostics
- Patient Safety
Background:
- Prenatal screening and diagnosis are standard components of global antenatal care.
- Screening identifies common fetal chromosomal and structural abnormalities.
- Integrated screening typically involves fetal ultrasound and maternal blood biochemical markers for aneuploidy.
Purpose of the Study:
- To review the scope of errors in prenatal diagnosis.
- To highlight strategies for preventing and diagnosing these errors.
- To identify areas for future research to enhance patient safety.
Main Methods:
- Literature review of errors in prenatal screening and diagnosis.
- Analysis of factors contributing to diagnostic complexity and error.
- Discussion of preventative and diagnostic strategies.
Main Results:
- Errors can occur at any stage of the prenatal diagnostic pathway.
- Individual, systemic, and latent errors contribute to diagnostic mistakes.
- Clinical factors like maternal size, fetal position, and multiple pregnancies increase complexity and error risk.
Conclusions:
- Addressing errors in prenatal diagnosis is crucial for improving patient safety.
- Implementing robust preventative and diagnostic strategies is essential.
- Further research is needed to minimize risks and enhance the reliability of prenatal care.
Abstract:
Prenatal screening and diagnosis are integral to antenatal care worldwide. Prospective parents are offered screening for common fetal chromosomal and structural congenital malformations. In most developed countries, prenatal screening is routinely offered in a package that includes ultrasound scan of the fetus and the assay in maternal blood of biochemical markers of aneuploidy. Mistakes can arise at any point of the care pathway for fetal screening and diagnosis, and may involve individual or corporate systemic or latent errors. Special clinical circumstances, such as maternal size, fetal position, and multiple pregnancy, contribute to the complexities of prenatal diagnosis and to the chance of error. Clinical interventions may lead to adverse outcomes not caused by operator error. In this review I discuss the scope of the errors in prenatal diagnosis, and highlight strategies for their prevention and diagnosis, as well as identify areas for further research and study to enhance patient safety.
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