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Prenatal genetic testing in Japan.

I Matsuda1, K Suzumori

  • 1Ezuko Institution for Developmental Disabilities, Kumamoto, Japan.

Community Genetics
|January 17, 2003
PubMed
Summary
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In 1997 Japan, prenatal diagnosis and maternal serum marker tests (MSMTs) were underutilized, especially for women over 35. Adequate informed consent is crucial for voluntary prenatal testing.

Area of Science:

  • Medical Genetics
  • Obstetrics and Gynecology
  • Public Health

Background:

  • Prenatal diagnosis and maternal serum marker tests (MSMTs) are crucial for identifying fetal abnormalities.
  • Understanding the utilization rates of these tests is important for improving prenatal care.
  • In 1997, the landscape of prenatal testing in Japan required examination.

Purpose of the Study:

  • To assess the utilization of prenatal diagnosis and MSMTs in Japan during 1997.
  • To evaluate the rates of amniocentesis and chorionic villus sampling.
  • To determine the uptake of MSMTs across different age groups.

Main Methods:

  • A survey was conducted using questionnaires sent to medical facilities providing prenatal diagnosis, representing approximately 80% of such facilities.
Keywords:
Empirical ApproachGenetics and Reproduction

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  • Data on prenatal diagnoses, including amniocentesis and chorionic villus sampling, were collected.
  • Maternal serum marker tests (MSMTs) data were gathered, including patient age and follow-up results for chromosomal abnormalities like trisomy 21.

    • Main Results:

    • Prenatal diagnosis was performed on 5,748 women, with 96.3% undergoing screening for chromosomal abnormalities.
    • Maternal serum marker tests (MSMTs) were performed on 14,682 women; only 4% of pregnant women over 35 underwent amniocentesis.
    • Pregnancy termination occurred in 89.1% of cases diagnosed with fetal abnormalities. Informed consent policies varied, with only 34.5% of facilities obtaining written consent before MSMTs.

    Conclusions:

    • The study revealed low rates of amniocentesis among pregnant women over 35 and limited offering of MSMTs in Japan in 1997.
    • Prenatal testing should be voluntary, emphasizing the need for adequate patient information.
    • Improving informed consent procedures is essential for ethical and effective prenatal screening programs.