Until recently, the only way to detect certain fetal genetic anomalies in the first three months of the pregnancy was through an amniocentesis or a chorionic villus sampling (CVS) (invasive tests that entail some risk).
In the amniocentesis test, a small sample of amniotic fluid is extracted from around the fetus. This puncture, sometimes, can cause a loss of liquid or the amniotic sac to break, causing damage, or even, in 1% of cases the loss of the baby due to spontaneous abortion. In turn, the CVS is the extraction of placental tissue through a puncture and suction with a small, thin needle. This is done through a puncture in the abdomen although it also can be done via the vagina.
The prenatal genetic test is a non-invasive technique that uses DNA analysis of the fetus through that which is present in the mother’s blood. This technique can be done from the tenth week of pregnancy on.
It is done through a simple blood simple of only 5 ml, the non-invasive prenatal genetic test is completely safe, and allows one to avoid the 1% risk of abortion associated with the other tests. Additionally, it offers reliability (the rate of false positives is 0.01%) when the most common chromosomal mutations, such as those related to chromosomes 21, 18, and 13, that respectively cause Down, Edwards, and Patau syndromes. The non-invasive prenatal genetic test allows identification of the numeric anomalies of the sex chromosomes that cause certain genetic diseases. Of course, they also determine the sex of the future baby.
The non-invasive prenatal test allows us to avoid up to 98% of the amniocentesis and CVS that are done with pregnancies that are considered risky.
Currently, the gestational age has increased significantly, so much so that it often exceeds 38 years of age, and the number of multiples pregnancies. Likewise, the statistics show that one in every 700 births is affected by Down syndrome.
No, the most suitable technique to detect fetal malformations (physical defects) is the 2D High Resolution Ultrasound. This test is typically done around weeks 20-22 of the pregnancy and allows identification of physical defects that can be recognized visually. Lastly, when there are reasons to believe that there might be an additional risk of congenital heart disease, apart from the 2D High Resolution Ultrasound, it is necessary to do a Fetal echocardiogram with Color Doppler technology; a technique that allows diagnosis of the majority of these types of abnormalities. Likewise, in the case of a suspected central nervous system disorder, at HC Marbella we have the Fetal Neurosonography (an ultrasound that is concentrated on the study of the brain and central nervous system of the fetus) available.
There exists a series of factors that increase the possibility of having a child with birth defects. These risk factors are what motivate certain tests, additional to the typical tests, in certain pregnant women.
● Previous child with chromosomal abnormalities or other birth defects.
● Mother or father is a carrier of a chromosomal abnormality.
● Suffering from a disease related to the X chromosome.
● Suffering from diabetes or certain endocrine disorders.
● Having relatives with malformations, chromosomal abnormalities, or inherited metabolic disorders.
● Having ingested medications that are advised against during pregnancy.
● Being exposed, for work reasons or currently, to radiation or toxic chemicals.
● Having contracted certain infections during the pregnancy.
● Pregnancy with twins or through an assisted reproduction technique
● Maternal obesity.
● Advanced maternal age.
All of the necessary tests for your pregnancy are available to you at HC Marbella. For a calm mind.
April 19, 2018
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