Prenatal Diagnosis
Genetic Evaluation During Pregnancy

Our center performs diagnostic genetic testing on prenatal samples to assess your baby’s health. Prenatal testing may be recommended by your physician based on ultrasound findings, a known family history of genetic disorders, a positive carrier screening result, or positive prenatal screening results such as NIPT. The results support informed decision-making regarding pregnancy management and follow-up, birth planning, and postnatal care.

Sample Types

CVS (Chorionic Villus Sampling): Performed from the 10th week of pregnancy, this procedure involves taking a small sample from the placenta for genetic analysis. It is often preferred for its ability to provide early results.

Amniocentesis:
Performed after the 16th week of pregnancy. Under ultrasound guidance, a sample of amniotic fluid is collected using a fine needle. It is one of the most commonly used invasive prenatal diagnostic methods and offers high diagnostic accuracy for fetal genetic evaluation.

Cordocentesis:
Performed from the 20th week of pregnancy onward. This diagnostic procedure involves obtaining a fetal blood sample from the umbilical cord to clarify suspected genetic conditions.

The sampling procedure is performed by your Obstetrician, while the detailed analysis and reporting of the sample are conducted by the specialists at our center.

Note: Maternal blood is required for Maternal Cell Contamination (MCC) analysis. For detailed sample requirements, please contact our center.

Indications for Prenatal Diagnosis

• Maternal age of 35 years or older
• Pregnancies with high-risk results from first- or second-trimester screening tests or NIPT
• Individuals with a family history of genetic disorders
• Cases with fetal anomalies detected on ultrasound
• Individuals with positive carrier screening results
• Pregnancies following mosaic embryo transfer during IVF

Test List

• Single Gene Tests
  

• Cytogenetic Analysis

• Intelligene WGS/WES