The probability of having a child with Down’s disease (trisomy 21) – a pathological chromosomal change in the child associated with physical malformations and mental limitations – increases with the mother’s age. Therefore, prenatal diagnostics, i.e. prenatal malformation diagnostics of the unborn child, is recommended for all women over 35 years of age.
The measurement of fetal nuchal translucency (NT), in combination with other parameters, makes it possible to determine an individual risk of disease for each patient. This may be lower than the risk based on age alone. This can thus facilitate the decision for or against more invasive examinations, such as amniocentesis.
In addition to diagnosing trisomy 21, fetal nuchal translucency measurement provides information about the presence of cardiac or renal disease.
The procedure
Ultrasound is used to assess nuchal thickness in the fetus at 10-14 weeks of gestation. Special computer programs then calculate individual risk from nuchal thickness, week of gestation, crown-rump length, and maternal age. The accuracy of the test can be further improved by combining it with laboratory chemistry tests – measuring the pregnancy hormone HCG and pregnancy proteins.
This examination is important for pregnant women with the following risks:
- Age over 35 years
- Child with Down syndrome in the family
- Child with heart defect in the family
- Multiple pregnancies
- Diabetes mellitus (blood sugar)
- Gestational diabetes
- Maternal metabolic diseases
- Drug and medication addiction
- Alcohol abuse
- Infections or X-ray examinations in early pregnancy
- Chemical contact
- Unexplained neonatal deaths in the father’s or pregnant woman’s family.
- Marriages within the kinship
Your benefit
The biggest advantage is that ultrasound examination is completely safe for both mother and child. Invasive methods, that is, intrusive examination methods such as amniocentesis and chorionic villus sampling, always have a low risk of miscarriage (abortion).
Fetal nuchal translucency testing is very reliable for the diagnosis of Down’s disease. Rarely are false-positive diagnoses made, meaning that the diagnosis of Down’s disease would not be confirmed by subsequent testing. If a lower than age-appropriate risk is determined, invasive testing may not be necessary. Likewise, heart or kidney diseases of the child can be revealed by this method.
Therefore, this method is highly recommended, especially for women over 35 years of age.
Ultrasound examination of fetal nuchal translucency is a risk-free and safe method to minimize the individual risk of having a child with Down’s disease.
Thus, nuchal translucency examination is an essential diagnostic test for the health of your unborn child.
