Although raising a child is a joy that couples look forward to, the feeling can be dampened if we are told that a genetic disorder may affect the baby. Down Syndrome is one of the most common genetic disorders.
About 95 percent of the time, Down syndrome is caused by trisomy 21 — the person has three copies of chromosome 21, instead of the usual two copies, in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell.
Dr. Nupur Gupta, Founder Well Woman Clinic, Director Department of Obstetrics & Gynecology at Fortis Memorial Research Institute Gurugram talks about the disease, screening process, and other important things related to Down Syndrom:
What Is Down Syndrome?
Down syndrome is a genetic condition caused by an extra complete or partial copy of chromosome 21 that results in irregular cell division. The behavioural differences and physical characteristics of down syndrome are caused by this extra genetic material.
Down syndrome differs among individuals in severity, however, in all cases it causes permanent intellectual impairment and delays in growth. This is the most prevalent hereditary chromosomal disorder in children and the cause of learning disabilities. Other medical anomalies, including cardiac and gastrointestinal conditions, are also commonly induced.
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How do doctors screen for Down syndrome in pregnancy?
The probability or chances of a mother having a baby with Down syndrome may be determined by screening tests.
Your health care provider will explore the types of tests, the advantages and drawbacks, the benefits and risks, and the importance of the outcomes.
Down syndrome screening is provided as a standard part of prenatal care. While screening tests can only assess the risk of carrying a baby with Down syndrome, they can help you make more precise diagnostic testing decisions.
The first-trimester combination test and the integrated screening test involve screening tests. Part one includes a blood test to measure PAPP-A and an ultrasound to measure nuchal translucency.
- Blood test- Blood test tests the plasma protein-A (PAPP-A) levels associated with pregnancy and the pregnancy hormone known as human chorionic gonadotropin (HCG). Abnormal PAPP-A and HCG levels may indicate an issue with the baby.
- Nuchal translucency test- An ultrasound is used to measure a particular region on the back of your baby’s neck during this examination. This is known as the nuchal screening test for translucency. The more fluid that has accumulated, the greater the risk of an abnormality being present.
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Can Down syndrome be cured during pregnancy?
It is not possible to remove an extra chromosome from cells, so there is no treatment for the disease.
You may need further tests to confirm the diagnosis if your screening test results are positive or worrisome, or you are at high risk of having a baby with Down syndrome. You will be helped by your health care provider to consider the pros and cons of these assessments.
How Is The Screening For Down Syndrome In Twin Pregnancies Done?
Available methods for screening for Down syndrome in twins are similar to that of singleton which includes the first trimester combined test- nuchal translucency, blood test. Second-trimester quad screening, and combinations of tests across different gestational ages.
In order to confirm a diagnosis, you will be offered a diagnostic test by either amniocentesis or chorionic villus sampling.