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Aurora magazine

The role of ultrasound in the diagnosis of fetal genetic syndromes

Ultrasounds have an essential role in prenatal diagnosis. They allow you to detect malformations and anomalies, some of which can be treated if taken in time. If accompanied by an expert eye, ultrasounds allow you to detect many of these anomalies from the first trimester.

Ultrasound can identify most of the major structural fetal anomalies. Prenatal diagnosis allows for a safer delivery, providing mother and child with the necessary assistance. Parents have the time to arrange their childbirth in a staffed facility and ad hoc machinery. Where necessary, doctors may also arrange for surgery immediately after delivery or even in the uterus.

The first screening with ultrasound is usually between 11th and 14th week. It is also the time when nuclease translucency is measured and tests for Down's syndrome are performed. On this occasion it is good practice to subject the fetus to an anatomical control by ultrasound. These reveal a possible multiple pregnancy and evaluate the physical condition of the fetus.

The second screening with ultrasound is the most important for detecting structural anomalies. It takes place in the second quarter, usually between the 18th and the 20th week. If the first analysis is used to identify the most obvious anomalies, the second one confirms the presence and identification of minor ones.

If the nuclide translucency was found to be abnormal, it is likely that the second screening will reveal a number of structural anomalies. In such situations, however, doctors recommend ultrasound before the 18th week.