Prenatal diagnosis mistakes in China. 15,000 healthy fetuses aborted.
It has been announced that there were mistakes in prenatal diagnoses in China, drawing attention to allegations against BGI Group (Beijing Genomics Institute), a leading Chinese genome sequencing company that provides services in over 100 countries and regions, including Japan.
Table of Contents
Prenatal Diagnosis Mistakes in China
The announcement of prenatal diagnosis mistakes in China has drawn attention to allegations against BGI Group (Beijing Genomics Institute), a leading Chinese genome sequencing company that provides services in over 100 countries and regions, including Japan.
BGI conducts NIPT (Non-Invasive Prenatal Testing), which checks if a baby in the womb has Down syndrome or other chromosomal abnormalities. However, due to testing errors in this prenatal diagnosis, healthy fetuses were also included along with those suspected of having chromosomal abnormalities such as Down syndrome.
Fivefold Increase in Positive Rates for Down Syndrome in Prenatal Diagnosis
This issue came to light and became a topic of discussion when Mr. Wang Deming posted about BGI's prenatal diagnosis on Weibo, the Chinese version of Twitter, using his real name. According to Mr. Wang's tweet, "BGI's NIPT positive rate is 1/164 (0.6%), whereas the Chinese National Health and Family Planning Commission's NIPT statistical data stipulate a positive rate for Down syndrome of 1/800 to 1/1000 (0.125% to 0.1%). BGI's standard is more than five times the national rate."
Mr. Wang Deming, who made the allegations using his real name, is the president of a health management company that had previously partnered with BGI. It appears that a business dispute has led to litigation between them.
Approximately 15,000 Healthy Fetuses Aborted Due to Prenatal Diagnosis Mistakes
According to an announcement by BGI, they had conducted 2.8 million NIPT tests nationwide by the end of 2017. Mr. Wang Deming stated that approximately 15,000 healthy fetuses were aborted due to the tests indicating a risk of abnormalities such as Down syndrome. Mr. Wang strongly criticized BGI, saying, "BGI's policy is not to miss even one abnormal fetus, even if it means mistakenly killing 100 healthy ones. This is murder."
BGI, based in China, has established BGI JAPAN in Kobe, Hyogo Prefecture. In Japan, they perform sequence analysis (nucleotide sequencing), genotyping (determination and assessment of genetic types), and bioinformatics analysis (life information science).
Reports of Chromosomal Abnormalities such as Down Syndrome Due to False Negatives
In mid-July 2018, an article questioning BGI's NIPT technology gained attention on the Chinese internet. Pregnant women who underwent NIPT testing at BGI were diagnosed as having no abnormalities in their fetuses, yet gave birth to children with chromosomal abnormalities such as Down syndrome.
BGI reported that the detection rate and specificity of their tests exceeded 99%. However, they acknowledged that the actual detection rates were over 95% for trisomy 13, 85% for trisomy 18, and 70% for trisomy 21. They also admitted the presence of false positives and false negatives, indicating that the tests were not 100% accurate.
Caution for Facilities Transporting Samples to China
In Japan, NIPT tests are not used for definitive diagnoses but rather for screening the likelihood of abnormalities. Patients are informed of this, and if a positive result is obtained, a confirmatory test such as amniocentesis is conducted.
Therefore, the likelihood of similar issues occurring in Japan as in China seems low, but caution is still necessary. This is because it cannot be definitively stated that no NIPT testing facilities in Japan send samples to China.
When undergoing NIPT, one way to ensure peace of mind is to confirm in advance which testing institution will be handling the samples.