Alternatively you can use amniocentesis, a procedure that can reveal the existence or absence of genetic abnormalities in the unborn and reveal sex simultaneously. This diagnosis provides a reliable answer, but the method is invasive and carries a small risk to the fetus. Today, with a new technique validated at the University of Perugia, you can know the sex of the baby from the 10th week of pregnancy, before any morphological differentiation or ultrasound. The big news of this test lies in the fact of being non-invasive to the fetus. Because it is the first diagnostic test that allows to obtain genetic information about the fetus from a blood sample of the mother, without resorting to invasive procedures such as amniocentesis or chorionic villus biopsy.
The idea that led to the development of this test came from the extensive evidence, documented in the scientific literature, according to which, from the first weeks of pregnancy, it is possible to find, in the blood of the mother, fetal material on which to perform genetic diagnosis without of risk to the health of the fetus and for the health of the pregnant woman. The analysis consists of a blood sample of the woman on the 2nd month of pregnancy (10-12 weeks gestation).
Using a completely new molecular biology technique is possible to know in 48 hours fetal sex much before any other tests so far available. Early determination of fetal sex has many applications in clinical-diagnostic routine of prenatal diagnosis; it can be used as a first diagnostic step of genetic diseases linked to chromosome X (Duchenne muscular dystrophy, hemophilia A and B, among the best known).
The knowledge of fetal sex, in the case of pregnancies at risk of X-linked diseases can reduce the use of invasive procedures. For example, in the case of parent carrier of a recessive disease linked to the X chromosome, whether the fetus is male limited only to these further investigations pregnancies. Early determination of sex is also important in case of metabolic diseases related to the altered development of the external genitalia, such as congenital adrenal hyperplasia, for the programming of targeted therapeutic intervention. Finally, the test can also be used by those couples who undergo assisted reproduction, in all those cases where it is necessary to know the sex of the baby prematurely.
By Dr. G. Cascianelli Research Centre Biochemical Analysis Specialist CRABioN