Microdeletions are chromosomal abnormalities that can potentially lead to health challenges, though not all cases result in issues. Identifying these abnormalities through prenatal testing can help parents prepare for their baby’s arrival.
What Is a Microdeletion?
A microdeletion refers to the absence of a small segment of a chromosome. As a reminder from your biology lessons, our body consists of cells that contain chromosomes carrying DNA—23 from each parent, totaling 46. During cell division, these DNA strands are sometimes inadvertently shortened, resulting in a microdeletion.
The implications of a microdeletion on your baby’s health vary depending on the specific location and size of the missing chromosome segment. Some microdeletions may lead to intellectual disabilities or other health concerns.
How Common Are Microdeletions?
Microdeletions are more prevalent than many people realize. While prenatal tests often focus on conditions like Down syndrome, they can also identify microdeletions. It’s essential for expectant parents to be aware of this possibility and understand its impact.
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Will a NIPT Include Microdeletions?
Non-Invasive Prenatal Testing (NIPT) often screens for various chromosomal abnormalities, and many tests now include microdeletions among the conditions they assess. A positive result may indicate a higher chance of a specific condition, prompting further testing or consultation.
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What Should You Do If You Receive a Positive Result?
If you receive a positive result for a microdeletion, it’s crucial to consult with a genetic counselor or your healthcare provider. They can offer insights into what the specific microdeletion might mean for your baby’s health and development.
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To Summarize:
Microdeletions represent a class of chromosomal abnormalities that can potentially affect health and development. Understanding what they are and how they are detected can empower parents during pregnancy. By utilizing resources like Make A Mom for at-home insemination options and engaging with supportive communities, you can navigate the journey to parenthood more confidently.