Related Experiment Video
Updated: May 9, 2026
17:45
T-maze Forced Alternation and Left-right Discrimination Tasks for Assessing Working and Reference Memory in Mice
Published on: February 26, 2012
40.9K
Two-decade trends in prenatal genetic testing in Japan
Aiko Sasaki1, Takahiro Yamada2, Haruhiko Sago1,3
1Center for Maternal-Fetal, Neonatal and Reproductive Medicine/Center for Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
Journal of Human Genetics
|March 1, 2026
Summary
Prenatal genetic testing in Japan shows declining use of traditional methods like maternal serum screening and amniocentesis, alongside a rise in ultrasound-only screening. This shift is influenced by non-invasive prenatal testing (NIPT) and evolving reproductive choices.
Area of Science:
- Reproductive Medicine and Genetics
- Clinical Diagnostics and Laboratory Medicine
Background:
- Prenatal genetic testing in Japan has evolved significantly over two decades.
- Maternal serum screening (MSS), amniocentesis (AC), and chorionic villus sampling (CVS) were primary methods for detecting fetal chromosomal abnormalities.
- Non-invasive prenatal testing (NIPT) has recently emerged as a transformative tool in clinical decision-making.
Purpose of the Study:
- To assess the current landscape and trends of prenatal genetic testing in Japan.
- To update national data on conventional prenatal testing methods amidst the rise of NIPT.
- To analyze the impact of demographic changes and new testing technologies on prenatal screening practices.
Main Methods:
- Compiled test volume data from five major high-volume laboratories analyzing prenatal genetic tests (2020-2023).
- Conducted a supplemental nationwide questionnaire-based survey on ultrasound (US)-only screening.
- Analyzed trends in MSS, AC, CVS, and US-only screening volumes and detection rates.
Main Results:
- Significant decline observed in MSS (34,887 in 2018 to 25,553 in 2023), AC (16,454 in 2014 to 5620 in 2023), and CVS (2149 in 2015 to 1167 in 2023) volumes.
- Ultrasound-only screening showed a slight increase, exceeding 10,000 cases annually.
- Chromosomal abnormality detection rate in AC cases increased to 20.0% in 2023, with trisomy 21 being most common (43.6%).
- Proportion of mothers aged ≥35 years increased (14.0% in 2003 to 30.4% in 2023), while national live births decreased by 35.3%.
Conclusions:
- Declining conventional prenatal test volumes are influenced by NIPT adoption, improved risk stratification, and evolving reproductive decisions.
- Demographic shifts alone do not explain the observed decrease in traditional testing methods.
- This study provides essential data for future prenatal genetic testing policies and practices in Japan.
Related Concept Videos
02:59Animal Mitochondrial Genetics
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
02:30Genomic Imprinting and Inheritance
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
03:00Next-generation Sequencing
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
03:09Meiosis I
Meiosis is the division of a diploid cell into haploid cells forming sperm and eggs in animals through differentiation. Meiosis I is the first stage of meiosis, where the genetic recombination of homologous chromosomes and the reduction of the ploidy level by half occurs.
Prophase I is the most extended and complex step of meiosis I characterized by synapsis, chromosome pairing, and recombination of the homologous chromosomes. This process is facilitated by a proteinaceous structure called the...
Prophase I is the most extended and complex step of meiosis I characterized by synapsis, chromosome pairing, and recombination of the homologous chromosomes. This process is facilitated by a proteinaceous structure called the...
01:28Human Genetics
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
01:23Behavioral Genetics and Its Designs
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...