Prenatal diagnosis

What is prenatal diagnosis?

Prenatal diagnosis is the set of tests that are performed during pregnancy and allow to know the proper formation and development of the fetus. There are different invasive and non-invasive techniques. Some of the tests are common to all women, while others are performed depending on the status and development of the mother and fetus.

What does prenatal diagnosis consist of?

In prenatal diagnosis, the gynecologist will ask the mother several questions and review her medical history and family history that may influence her state of health during pregnancy. To monitor the health and evolution of the mother and fetus, various clinical analyses and diagnostic imaging tests will be performed. The main tests are:

– Fetal DNA test in maternal blood. The risk of Down syndrome or other chromosome-related abnormalities can be known from week 10 onwards.

– Ultrasound. Several ultrasounds are performed during pregnancy. At three months, some images of markers of chromosomal abnormalities can be detected and possible malformations can be diagnosed in the second month.

– Amniocentesis. Obtaining amniotic fluid surrounding the fetus to detect chromosomal alterations.

Why is it performed?

The purpose of prenatal diagnosis is to know the state of evolution and development of the fetus, as well as to detect and prevent possible diseases and deformities. Thanks to prenatal diagnostic tests, parents can anticipate the health status of their baby before birth.

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Preparing for prenatal diagnosis

Preparation will vary depending on the tests performed during pregnancy. For example, for the amniocentesis it is necessary to have a full bladder, and for the clinical analysis it is necessary to fast. The specialist in Gynecology and Obstetrics will be in charge of explaining the instructions for each test to the pregnant woman.

What does the test feel like?

Most of the tests to be performed during prenatal diagnosis are imaging tests such as ultrasound, and are painless. The tests are designed to cause no side effects or discomfort to the mother. In addition, they are a series of procedures that allow parents to know in depth the growth process of their future baby.

Significance of abnormal results.

If any of the prenatal diagnostic tests give abnormal results, it may be due to the fact that the fetus is not developing properly and may have some disease or deformity. In the event that any test denotes a risk of abnormality, further testing will be performed to rule out or confirm the problem and prevent it.