Description:
Prenatal diagnostics and ultrasound examinations are essential components of prenatal care. These procedures aim to monitor the health and development of the fetus during pregnancy and detect potential genetic or structural anomalies early. Prenatal diagnostics include a variety of tests to identify genetic disorders and chromosomal abnormalities, while ultrasound examinations provide real-time visualization of fetal development and critical information about the pregnancy.
Indications:
- Routine monitoring of pregnancy and fetal development
- Determination of gestational age and monitoring of fetal growth
- Detection of multiple pregnancies
- Assessment of fetal anatomy and placenta
- Early detection of genetic disorders and chromosomal abnormalities, especially in high-risk patients (e.g., women over 35 years, family history of genetic conditions)
- Monitoring of pregnancy complications such as malformations, intrauterine growth restriction (IUGR), or oligohydramnios (reduced amniotic fluid)
Procedure:
- First Trimester Screening: Conducted between the 11th and 14th weeks of pregnancy, this screening combines ultrasound measurements (especially nuchal translucency measurement) with biochemical blood tests to assess the risk of certain chromosomal abnormalities, such as Down syndrome. If increased nuchal translucency is detected, further diagnostics may be required.
- Ultrasound Examinations:
- Routine Ultrasound: Typically performed in each trimester of pregnancy. The first-trimester ultrasound confirms pregnancy and gestational age and detects multiple pregnancies. The second-trimester ultrasound involves a detailed examination of fetal anatomy (anatomy scan), and the third-trimester ultrasound monitors fetal growth and placental position.
- Specialized Ultrasound Examinations: High-resolution or 3D/4D ultrasound examinations may be performed for a more detailed assessment if anomalies or pregnancy complications are suspected.
- Non-Invasive Prenatal Testing (NIPT): NIPT is a blood test that analyzes cell-free fetal DNA in maternal blood. This test can be performed early in pregnancy (from the 10th week) and offers high accuracy in detecting specific chromosomal abnormalities, such as Trisomy 21 (Down syndrome), Trisomy 18, and Trisomy 13. NIPT is particularly useful for women at increased risk for chromosomal disorders.
- Invasive Prenatal Diagnostics: If a risk for genetic disorders or chromosomal abnormalities is identified, invasive tests such as chorionic villus sampling (CVS) or amniocentesis may be conducted.
- Chorionic Villus Sampling (CVS): Performed between the 10th and 13th weeks of pregnancy, this procedure involves taking a small sample of placental tissue for genetic testing.
- Amniocentesis: Usually performed between the 15th and 20th weeks of pregnancy, this procedure involves collecting a sample of amniotic fluid to obtain fetal cells for genetic testing.
- Aftercare: After invasive prenatal tests, careful monitoring is recommended to detect possible complications such as bleeding or amniotic fluid leakage. For all prenatal examinations, thorough counseling by the doctor is essential to discuss the results and the next steps.
Benefits:
- Early detection and management of genetic disorders and structural anomalies
- Provision of vital information on fetal development and health
- Assistance in planning and preparation for delivery and potential medical interventions
- Reduction of risk for complications through targeted monitoring and intervention
- Enhanced safety and well-being for both mother and child during pregnancy