The possibility of know as soon as possible if the fetus has any genetic alteration in a non-invasive way It would help to start treating it properly from scratch.
For that reason, it is good news that a group of researchers from the Baylor College of Medicine of Texas (USA) have created a test that allows them to be diagnosed by sequencing small amounts of fetal DNA in the mother's blood.
The new analysis, which could be used after detecting some skeletal abnormality on the first ultrasound, will allow to detect diseases such as sickle cell anemia, hemophilia or cystic fibrosis.
One more step towards early detection
Non-invasive prenatal tests for chromosomal disorders are not new. In 2017, a test was developed for single-gene recessive diseases, which occur when someone has two copies of a defective gene. That test is useful when one or both parents are known to be carriers of inherited diseases.
In Babies and more A blood test may identify the risk of gestational diabetes in the first trimester Now, this new research, whose results have been published in 'Nature Medicine', has designed a test that analyzes 30 genes associated with dominant genetic diseases (which occur when someone has only one copy of a defective gene).
These are usually caused by a mutation in the sperm, the ovum or the embryo, and are more common when one of the parents is relatively older.
A large sample and good results
The research analyzed blood samples from 422 pregnant women, from nine weeks of gestation onwards, in clinics in the US, Europe and Asia.
In some of the cases, possible skeletal abnormalities were detected on ultrasound and 32 were positive for mutations in one of the 30 genes, in the test.
In addition, the researchers followed up in 147 cases, performing more invasive tests or postnatal tests. In this way they could confirm that the initial tests with the mother's blood had been correct.
In Babies and more A test predicts the risk of developing preeclampsia in the first trimester of pregnancyJinglan Zhang of the Baylor College of Medicine of Texas and director of the study explains that:
"The data so far show that this test is promising and accurate to detect the mutations that are supposed to be."
However, he adds that "They will need the results of a much larger group of women to show that the test is clinically useful".
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