ArticleJournal of human genetics2015
Chromosome abnormalities diagnosed in utero: a Japanese study of 28 983 amniotic fluid specimens collected before 22 weeks gestations.
Article in Journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 24 citations in OpenAlex.
- Is intermediate risk really intermediate? Comparison of karyotype and non-invasive prenatal testing results of pregnancies at intermediate risk of trisomy 21 on maternal serum screening.Journal of genetic counseling · 2025Article
- A retrospective analysis of 38,652 amniotic fluid karyotype.Frontiers in genetics · 2025Article
- Maternal Exposure to Per- and Polyfluoroalkyl Substances and Offspring Chromosomal Abnormalities: The Japan Environment and Children's Study.Environmental health perspectives · 2024Article
- Attitude changes toward prenatal testing among women with twin pregnancies after the introduction of noninvasive prenatal testing: A single-center study in Japan.The journal of obstetrics and gynaecology research · 2021Article
- Awareness of paternal age effect disorders among Japanese pregnant women: implications for prenatal genetic counseling for advanced paternal age.Journal of community genetics · 2021Article
- The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China.Molecular cytogenetics · 2021Article
- Diagnostic differences between patients opting for non-invasive prenatal testing and patients having traditional prenatal diagnosis.International journal of clinical and experimental pathology · 2018Article
- Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan.Journal of human genetics · 2016Article
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To investigate the frequency and type of abnormal karyotype in Japan by amniocentesis before 22 weeks of gestation. We performed a retrospective analysis of 28 983 amniotic fluid specimens in a local population collected before 22 weeks gestations for fetal karyotyping. The incidence of abnormal karyotype was 6.0%. The main indication was advanced maternal age (AMA) of 35 years and older, which represented over half of the clinical indications. Abnormal karyotype was most frequently reported among the referrals for abnormal ultrasound findings (21.8%), followed by positive maternal serum screen results (5.3%). Three-fourths of abnormal karyotype was either autosomal aneuploidy (64.0%) or sex chromosome aneuploidy (11.6%). Abnormal karyotype was detected in 2.8% of pregnant women referred for AMA. Clinically significant abnormal karyotype increased with advancing maternal age. The frequency and type of abnormal karyotype detected by amniocentesis for various indications were determined. Amniocentesis was mainly performed among the referrals for AMA, which is a characteristic distribution of indications of Japan.
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