Diagnóstico prenatal: en qué consiste y qué tipos de pruebas hay

Prenatal diagnosis: what it is and what types of tests are there Prenatal diagnosis encompasses the set of techniques used to detect fetal anomalies before the birth of the baby Thanks to the prenatal diagnosis, currently, various congenital, genetic or other anomalies can be detected in the fetus during pregnancy, that is, before birth

The techniques used in prenatal diagnosis have been refined and strengthened a lot over time, so that nowadays certain genetic conditions can be known even during the embryonic stage Main advantages of prenatal diagnosis Early detection of fetal anomalies Early treatment of diseases in the fetus Specific control at the time of delivery in the required cases Medical advice to prospective parents Types of prenatal diagnosis Invasive techniques of prenatal diagnosis

The invasive techniques used in prenatal diagnosis are those that involve the physical invasion of the fetal space Consequently, these techniques involve certain risks so they should be carried out only when their potential benefits outweigh the associated biases On the other hand, the use of these techniques should be carried out at specific moments of pregnancy, to reduce the possible risks of abortion and ensure the success of the technique In addition, they should always be performed under ultrasound guidance In this technique, a small portion of the chorionic villus tissue of the developing placenta is obtained by means of a catheter or clamp

It can be done transcervical (through the vagina) or transabdominal (punctured through the abdomen) The chorionic biopsy should be performed after 11 weeks of gestation because it can cause serious fetal damage beforehand Obtaining a sample of tissue from which fetal DNA can be extracted is very useful in detecting chromosomal abnormalities or genetic diseases Amniocentesis It consists in the extraction of amniotic fluid by means of a transabdominal puncture guided by ultrasound in order to obtain fetal cells present in said fluid

It is usually performed between 14-20 weeks of gestation because before there is not enough fetal cells and then these cells can be keratinized and are not useful for diagnosis Funiculocentésis The funiculocentésis is a technique that allows fetal blood to be extracted from the funicular vessels (umbilical cord), its applications are the study of chromosomal abnormalities and certain haemopathies, among other things It can be done from week 20 of pregnancy and until the end of pregnancy Its use is not recommended before this week, because until then, the blood vessels of the umbilical cord are too small and can be damaged by the puncture

Non-invasive techniques of prenatal diagnosis Here we include those techniques that do not imply the physical invasion of the fetal environment, therefore, they do not carry a risk of abortion They can be classified into two categories: techniques that use image diagnosis (ultrasound) and techniques that use biochemical tests in maternal blood Ultrasound Ultrasound is a technique that uses ultrasound, applied on the abdomen, so that when bouncing on the fetus return certain waves that can be interpreted and thus generate an image of the fetus This technique is very useful when diagnosing various fetal malformations, both internal and external

In addition, the progressive improvement that is being achieved in this technique makes us already find 3D or even 4D ultrasounds, which allow us to see the movement of the fetus Doppler This technique, which like the previous one is based on the use of ultrasound, is very useful when studying anomalies in the fetal and placental circulatory system Fetal free DNA in maternal blood Methodologically, this technique is as simple as drawing blood from the mother It is based on the fact that fetal cells can be found in the bloodstream of the pregnant mother, from which DNA can be extracted from the fetus to be analyzed

This technique, which is highly beneficial due to its low invasiveness, has as its main obstacle the difficulty of finding genetic markers that make it possible to discern between maternal and fetal DNA Biochemical markers in maternal blood The biochemical tests in maternal blood consist again, in extracting maternal blood In this case, what we will look for are certain chemical substances secreted by the developing fetus that can give us information about its status

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