Analysis Procedure Determines a Child's Sex in Early Pregnancy

A new genetic test identifies the sex of the fetus and uncovers genetic diseases from the eighth week of pregnancy by analyzing the fetal DNA found in the blood plasma of the expectant mother.

Researchers from the University of Granada (UGR, Spain) , in collaboration with the maternity hospital Virgen de las Nieves (Granada, Spain) developed the new technique, which is based on the fact that during pregnancy, between 3.4 and 6.2% of the total DNA free in maternal plasma has a fetal origin. Therefore, a simple peripheral blood sample is enough for the test, which opens new possibilities in the field of non-invasive prenatal diagnosis. All the expectant mother needs to carry out the test is supply a 3-ml blood sample with an anticoagulant, which is then sent to the testing laboratory, a spin-off of the University of Granada and Virgen de las Nieves named Lorgen (Granada, Spain). Test results are returned within 48 hours. Although the test can be carried out from the sixth week of pregnancy, the reliability of the technique is much higher from the eighth. The researchers conducted a clinical trial of the new method in 120 pregnant women, and found that the test's effectiveness rate was above 98%.

The new process has many medical applications, especially in the diagnosis of monogenic diseases related to X chromosome, such as hemophilia or Duchenne muscular dystrophy. In these cases, the possibility of determining the sex of the baby as soon as possible avoids invasive prenatal diagnosis procedures such as amniocentesis, chorionic villus biopsy, or cordcentesis, which involve a potential danger to the life of the fetus.

"The ‘golden dream' is to be able to detect and diagnose Down syndrome from fetal DNA present in the mother's blood,” said Sebastián Manzanares, M.D., director of the fetal medicine unit of the Virgen de las Nieves University Hospital. "That would be the end of the process, but before that we would be able to study many more genes. For the moment, we need to continue with amniocentesis.”


Related Links:
Lorgen
University of Granada
Virgen de las Nieves maternity Hospital