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Related Experiment Video

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FISH for Pre-implantation Genetic Diagnosis
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Prenatal invasive testing: a 13-year single institution experience.

Carmen Comas1, Mónica Echevarria, Ignacio Rodríguez

  • 1Department of Obstetrics and Gynecology, Fetal Medicine Unit, Hospital Universitari Quirón Dexeus , Barcelona , Spain and.

The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
|October 18, 2013
PubMed
Summary

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Prenatal screening policies improved detection of chromosomal abnormalities (CA). However, demand for invasive testing by low-risk women increased, with a baseline risk of 1/241 for cytogenetic abnormalities.

Area of Science:

  • Perinatology
  • Medical Genetics
  • Public Health Policy

Background:

  • National prenatal screening policies aim to detect fetal chromosomal abnormalities (CA).
  • Trends in invasive prenatal diagnostic procedures and their indications require analysis.
  • Understanding referral patterns is crucial for optimizing prenatal care.

Purpose of the Study:

  • To analyze trends in screening and invasive prenatal diagnosis over 13 years.
  • To assess the impact of national prenatal screening policy changes.
  • To evaluate the efficiency of prenatal detection of chromosomal abnormalities.

Main Methods:

  • Retrospective review of 11,045 fetal karyotypes from invasive procedures (1999-2011).
  • Classification of referral indications as medical or non-medical (anxiety).
Keywords:
AuditDown syndromechromosome abnormalitieskaryotypingscreening

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  • Calculation of tests per relevant CA detected, adjusted for indication.

    • Main Results:

    • A total of 414 CA were detected (3.8%), with 355 clinically significant.
    • Invasive procedures decreased from 49% to 12%, while anxiety-referred cases rose from 22% to 55%.
    • In low-risk, non-medically indicated procedures, 13 relevant CA were found (0.42%), with a detection rate of 1 CA per 241 tests.

    Conclusions:

    • National prenatal policy changes increased the efficiency of CA detection.
    • Despite enhanced screening, demand for invasive testing among low-risk women has grown.
    • A baseline risk of 1/241 for cytogenetic abnormality exists in this low-risk group.