2023-11-23 21:05:00
For most specialists, the best way to know how the future baby is doing is through imaging methods such as ultrasound, but not conventional ones, but rather in-depth studies such as structural ultrasound, which is performed according to the Obstetrics Standards and Procedures 2021 of the INPer Isidro Espinosa de los Reyes to do a comprehensive review of the structure of the heart, blood vessels, brain, spine, abdominal wall, extremities and face. It is in this study that the measurement of nuchal translucency is carried out, which consists of measuring the space behind the baby’s neck/nape that may be correlated with chromosomal alterations.
In those cases where an alteration is found, it is suggested to complement the information with a genetic study that can be carried out from week 10 of pregnancy to know if the fetus presents any risk of abnormality of relevant clinical significance. This study is known as NIPT or detection of fetal DNA in maternal blood.
Although these studies are valid from the American College of Gynecology and Obstetrics, they are not diagnostic; However, they indicate that the fetus has a greater risk of suffering from some genetic condition, that is, the results still need to be confirmed.
If ultrasound and/or NIPT show a high risk, confirmation or exclusion studies with fetal contents should be performed. For these studies, a maternal-fetal specialist or specialist in gynecology and obstetrics performs chorionic villus sampling between weeks 10.5 and 13.5 of pregnancy or takes amniotic fluid (amniocentesis) between 15 and 20 weeks of pregnancy. Both the chorionic villi and the amniotic fluid are representative tissues of the fetus. Although the sample collection is invasive, it is safe for both the baby and the mother. Thanks to this, it is possible to make an accurate diagnosis in the laboratory.
The main confirmatory prenatal diagnostic laboratory studies, where chorionic villus or amniotic fluid are used, are prenatal karyotyping, which studies all chromosomes, prenatal FISH (fluorescence in situ hybridization), which studies chromosomes 13, 18, 21, X and Y, and the Prenatal Microarray that studies all the chromosomes at the genomic level with a greater diagnostic scope than the first two studies mentioned in order to diagnose genetic diseases. These preventive studies give parents and doctors the opportunity to make the necessary interventions to maintain the baby’s health. “In cases where there are chromosomal abnormalities, adequate planning of immediate neonatal care can be done to protect the baby,” says Palencia.
Studies such as conventional and structural ultrasounds are available in medical offices and laboratories throughout the Mexican Republic, although unfortunately they are still lacking in rural areas, which is why the rate of genetic diseases in these regions remains high.
For their part, NIPT, Karyotype, FISH and prenatal Microarray studies are available in the more than 500 Chopo branches in 26 states of the country so that pregnant women can have good prenatal control.
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