whole genome fetus

Knowing the ins and outs of our children’s genetic secrets before they are born could help reduce the likelihood of many diseases – but could it be misused?

Reading the whole genetic blueprint of a fetus long before birth could become a routine procedure thanks to a new blood test.

As genetics increasingly informs prospective parents’ choices around conception, the test raises the prospect that it may soon become common to have an extensive understanding of a person’s genetic make-up before they are even born, New Scientist reports. 

The new test can be carried out in the first trimester and gives an idea of a fetus’s genetic traits and future disease risks. 


How It Works 

A blood sample is taken from the mother in the first trimester, and the blood is separated to isolate fetal cells that have leaked into her circulation. The fetus’ entire genome can be sequenced from these cells, providing information about physical traits as well as disease risks. 

So far, the test has been used to sequence the genomes of two fetuses in China during the first trimester. They were found to have gene variants associated with bowel cancer, liver disease and several other conditions. 


Could be Misused 

The idea is to give parents the choice to end the pregnancy if a severe genetic condition is detected, however, there are concerns that the test will lead to unnecessary terminations for less serious conditions or undesirable traits. 

Ideally, the test will be used to detect serious genetic conditions that can be corrected before birth using gene therapies. 

The test is still several years from becoming commercially available, but when it does – will it be misused? 



Materials provided by New Scientist.