What are Symptoms of Down Syndrome in Pregnancy?
September 21, 2023 | by Sravani Pathakamuri | Posted in FAQ's
Down syndrome, also known as trisomy 21, is a genetic condition that occurs due to an extra copy of chromosome 21. Certain physical and developmental features can be observed during a pregnancy if the fetus has Down syndrome. Some potential markers and indicators of Down syndrome during pregnancy include:
- Prenatal Screening Results: Abnormal results from prenatal screening tests, such as non-invasive prenatal testing (NIPT), quad screen, or combined first trimester screening, may indicate an increased likelihood of Down syndrome.
- Increased Nuchal Translucency: An increased thickness of the nuchal translucency (the fluid-filled space at the back of the fetus’s neck) during a first trimester ultrasound may be a sign of Down syndrome.
- Structural Abnormalities on Ultrasound: Certain structural abnormalities detected during an ultrasound, such as heart defects or gastrointestinal issues, may be associated with Down syndrome.
- Hypotonia (Low Muscle Tone): Low muscle tone or hypotonia can be a characteristic feature of Down syndrome.
- Distinctive Facial Features: While not always definitive, certain facial features such as a flattened facial profile, upward slanting eyes, a small nose, and a protruding tongue can be associated with Down syndrome.
- Heart Abnormalities: Congenital heart defects are more common in individuals with Down syndrome.
- Developmental Delays: Slower physical and cognitive development compared to other children of the same age.
It’s essential to remember that the presence of these potential markers or indicators does not guarantee a diagnosis of Down syndrome. Definitive diagnosis is typically achieved through diagnostic tests such as chorionic villus sampling (CVS) or amniocentesis, which carry a slight risk of miscarriage.
If there are concerns about the possibility of Down syndrome during a pregnancy, it’s crucial to consult with a healthcare provider and, if appropriate, undergo further testing and counseling to fully understand the situation and plan for the well-being of the fetus and family.