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Related Experiment Videos

Reliable gender screening for human preimplantation embryos, using multiple DNA target-sequences.

G Levinson1, R A Fields, G L Harton

  • 1Genetics and IVF Institute, Fairfax, VA 22031.

Human Reproduction (Oxford, England)
|October 1, 1992
PubMed
Summary
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Low utilization of prenatal and pre-implantation genetic diagnosis in Huntington disease - risk discounting in preventive genetics.

Clinical genetics·2014

Accurate preimplantation genetic diagnosis for X-linked diseases is now possible. This new method uses polymerase chain reaction (PCR) on single cells from human embryos, achieving over 98% accuracy for sex determination.

Area of Science:

  • Reproductive biology
  • Human genetics
  • Molecular diagnostics

Background:

  • Preimplantation genetic diagnosis (PGD) is crucial for preventing the transmission of X-linked genetic disorders.
  • Accurate sex determination of human embryos is essential for PGD strategies targeting X-linked conditions.
  • Existing methods face challenges in reliability and accuracy when analyzing single cells.

Purpose of the Study:

  • To develop and validate dependable methods for preimplantation sex determination of human IVF embryos.
  • To enhance diagnostic accuracy for clinical applications in families at high risk of X-linked diseases.
  • To minimize misdiagnosis by addressing potential pitfalls in single-cell genetic analysis.

Main Methods:

  • Development of a multiplex nested polymerase chain reaction (PCR) protocol for rapid analysis of single cells and blastomeres.

Related Experiment Videos

  • Co-amplification of X and Y chromosome amelogenin gene segments and Y-linked DYZ1 repetitive elements for enhanced reliability.
  • Individual cell isolation and washing to prevent contamination, coupled with internal controls for error detection.

    • Main Results:

    • The optimized single-cell protocol achieved a sexing error rate of less than 2% (1 in 60 samples).
    • Multiplex amplification and internal controls effectively identified and excluded aberrant samples, averting misdiagnosis.
    • The method demonstrated concordant sex determination in human triploid embryos and was adapted for blastocyst biopsy analysis.

    Conclusions:

    • Dependable and accurate preimplantation sex determination methods for human IVF embryos have been established.
    • The developed protocol significantly reduces diagnostic errors, offering a reliable tool for PGD in at-risk families.
    • The findings highlight the potential and address the challenges of single-cell genetic analysis in clinical settings.