Pregnancy is a journey filled with excitement, anticipation, and countless decisions aimed at protecting the health of both mother and baby. One of the most important steps in this journey is prenatal genetic screening, a set of tests designed to assess whether a fetus may be at risk for certain genetic conditions. These conditions often arise due to changes in genes or chromosomes—tiny structures that carry instructions for a baby’s development. When the number of chromosomes is abnormal, it can lead to disorders known as aneuploidies. For instance, trisomy occurs when there is an extra chromosome, while monosomy happens when one chromosome is missing, both of which can significantly impact a child’s health.
Beyond chromosomal abnormalities, some genetic conditions result from inherited gene mutations passed down from parents. Disorders such as sickle cell disease, cystic fibrosis, and Tay-Sachs disease fall into this category. In many cases, a baby is only affected when both parents unknowingly carry the same defective gene. This makes understanding your genetic makeup—and how it may influence your child’s health—an essential part of responsible pregnancy planning.
