Prenatal genetic testing in Japan.
OBJECTIVE
To examine the use of prenatal diagnosis and maternal serum marker tests (MSMTs) from January 1 to December 31, 1997, in Japan.


METHODS
Questionnaires were sent to medical facilities, which represent about 80% of the facilities providing prenatal diagnosis.


RESULTS
Prenatal diagnosis was performed in 5,748 women, of whom 5,538 (5,516 amniocenteses and 22 chorionic villus sampling; 96.3%) were screened for chromosomal abnormalities. 89.1% (221/248) of those diagnosed to have fetal abnormalities terminated the pregnancy. Written informed consent signed by both the obstetrician and the pregnant woman undergoing prenatal diagnosis was the policy in 76.5% facilities. A total of 14,682 MSMTs were performed: 8,919 were in pregnant women under 34 years of age and 5,763 were in women aged 35 years or older. Follow-up data were obtained in 10,209; 6,918 women under 34 years were tested; of those 448 had a positive result; 349 underwent amniocentesis and trisomy 21 was diagnosed in 9. 3,291 women aged 35 years or older were tested; of those 634 had a positive result; 607 underwent amniocentesis and trisomy 21 was found in 16 cases. Written informed consent before MSMTs was obtained in 34.5% of the facilities.


CONCLUSIONS
The data showed that only 4% of pregnant women above age 35 years underwent amniocentesis in Japan, and a small proportion of pregnant women were being offered MSMTs. Prenatal testing should be carried out only on a voluntary basis. For this purpose, women must be adequately informed.
Matsuda
I
I
Ezuko Institution for Developmental Disabilities, Kumamoto, Japan.
Suzumori
K
K
D000025:Abortion, Eugenic / Q000706:statistics & numerical data; D000328:Adult; D000367:Age Factors; D000649:Amniocentesis / Q000706:statistics & numerical data; D015193:Chorionic Villi Sampling / Q000706:statistics & numerical data; D000013:Congenital Abnormalities / Q000453:epidemiology; D005260:Female; D005820:Genetic Testing / Q000706:statistics & numerical data; D006801:Humans; D007258:Informed Consent; D007564:Japan; D011247:Pregnancy; D037841:Pregnant People; D011296:Prenatal Diagnosis / Q000379:methods* / Q000706:statistics & numerical data*; D011795:Surveys and Questionnaires; D000509:alpha-Fetoproteins / Q000032:analysis
D000509:alpha-Fetoproteins