Prenatal Diagnosis

Prenatal Diagnosis

What is Prenatal Diagnosis?

Prenatal diagnosis is the process of detecting fetal conditions related to single-gene disorders or chromosomal abnormalities before birth. The main advantage of this method is the ability to identify anomalies early in pregnancy with high accuracy.

Methods of Prenatal Genetic Diagnosis

• Cytogenetic tests — analysis at the chromosomal level
• Molecular genetic tests — DNA-level analysis (PGT, Microarray, FISH, etc.)

Benefits of Prenatal Diagnosis

• Enables treatment planning before or after birth if a condition is detected
• Identifies high-risk pregnancies and provides appropriate guidance
• Assesses the risk of hereditary disorders during pregnancy

Assessing Fetal Risk

At the first stage, specialists in obstetrics evaluate the risk based on family history and ultrasound results. If the fetus shows indications or risk factors, the woman is referred for genetic counseling.

If a chromosomal abnormality or ultrasound anomaly is detected, prenatal diagnostic testing is recommended.

Methods of Prenatal Sampling

• Amniocentesis — collection of amniotic fluid for analysis
• Chorionic Villus Sampling (CVS) — biopsy of placental chorionic villi under ultrasound guidance for analysis
• Fetal Blood Sampling — collection of fetal blood under ultrasound guidance for analysis

Today, prenatal diagnosis is a crucial tool for preventing genetic disorders and ensuring the birth of healthy children. These methods allow for accurate assessment of fetal health and provide parents with reliable guidance and recommendations.