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Prenatal Diagnostic Errors in China. 15,000 healthy fetuses aborted.

Prenatal Diagnostic Errors in China. 15,000 healthy fetuses aborted.

The announcement of a prenatal diagnosis error in China drew attention to accusations concerning BGI (Huadai Genomics Technology Co., Ltd.), a major Chinese genome analysis company that provides services to more than 100 countries and territories worldwide, including Japan.

Prenatal Diagnosis Errors in China

The announcement of a prenatal diagnosis error in China drew attention to accusations concerning BGI (Huadai Genome Technology Co., Ltd.), a major Chinese genome analysis company that provides services to more than 100 countries and regions worldwide, including Japan.

BGI also performs NIPT (new-type prenatal diagnosis), which tests whether a baby in the belly has Down syndrome or other chromosomal abnormalities. However, due to a testing error in this prenatal diagnosis, a healthy fetus was included along with a fetus suspected of having Down syndrome or other chromosomal abnormalities.

Five times the positive rate for Down syndrome in prenatal diagnosis

This was revealed and became a hot topic when Wang Deming posted about BGI's prenatal diagnosis under his own name on Weibo, China's version of Twitter. According to Wang Deming's Twitter post, "BGI's NIPT positive rate is 1/164 (0.6%), while the NIPT statistical data of China's National Health and Planning and Vitalization Commission stipulates that the positive rate for Down syndrome is 1/800 to 1/1000 (0.125% to 0.1%). times higher than the national standard," he submitted.

Mr. Wang Deming, who made the accusation under his own name, is the president of a health care company that had a business alliance with BGI in the past, and it appears that the conflict over the business this time led to the lawsuit.

About 15,000 healthy fetuses aborted due to prenatal diagnosis errors

According to an announcement by BGI, 2.8 million NIPTs were performed nationwide by the end of 2017. According to Wang Deming, about 15,000 healthy fetuses were aborted due to the possibility of Down syndrome or other abnormalities in the tests. Wang De Ming strongly condemned BGI, saying, "It is BGI's policy not to leak even a single abnormal fetus even if it mishandles 100 people. This is murder.

This Chinese company has established BGI Japan in Kobe, Hyogo Prefecture, Japan, which conducts sequence analysis (nucleotide sequencing), genotyping (genotyping and genotype determination), and bioinformatics analysis (life information science) in Japan.

Some reports of births with Down syndrome and other chromosomal abnormalities due to false negatives

In mid-July 2018, articles questioning BGI's NIPT technology attracted attention on the Chinese Internet: pregnant women who underwent NIPT testing at BGI gave birth to children with Down syndrome and other chromosomal abnormalities, despite the fact that their fetuses were diagnosed with no abnormalities.

While BGI reported that the detection rate and specificity of the test were each above 99%, BGI admitted that the actual detection rates were 95% for 13 trisomies, 85% for 18 trisomies, and over 70% for 21 trisomies, not 100% high accuracy, and that there were false positive and false negative results.

Beware of facilities that transport specimens to China.

In Japan, the NIPT test is not meant to make a definitive diagnosis, but only a non-confirmatory test to diagnose the possibility of a baby.

Therefore, it seems unlikely that something similar to what happened in China will happen in Japan, but caution is needed. This is because it cannot be said that there are no NIPT laboratories in Japan that transport specimens to China.

One way to gain peace of mind when undergoing NIPT testing would be to confirm in advance which laboratory the specimens are being ordered from.