What Are the Genetic Diseases Diagnosable During Pregnancy?

During pregnancy, genetic tests can be performed to detect many genetic diseases. These tests are generally recommended for pregnant individuals at risk or those with a family history of genetic diseases. Non-invasive tests during pregnancy can identify chromosomal disorders, while samples obtained from invasive tests can diagnose both chromosomal and single-gene disorders.

1. Chromosomal disorders identified through non-invasive methods:

• Down Syndrome (Trisomy 21)
• Edwards Syndrome (Trisomy 18)
• Patau Syndrome (Trisomy 13)
• Turner Syndrome (Monosomy XO)
• Klinefelter Syndrome (XXY)

2. Single-gene disorders diagnosed from samples taken from the baby when carrier status is present in the parents. The most commonly observed diseases include:

• Thalassemia syndromes
• SMA (Spinal Muscular Atrophy)
• Familial Mediterranean Fever
• Cystic Fibrosis
• Muscular dystrophies

3. When anomalies are present in the baby without knowing carrier status in the parents, samples taken from the baby can undergo both chromosomal analysis and comprehensive exome or whole-genome analysis. This allows for the early diagnosis of the baby by scanning 20,000 genes and identifying thousands of single-gene disorders during pregnancy.