Down’s Syndrome Screening in Pune

Down’s Syndrome Screening in Pune:

Pregnancy and childbirth can be the most wonderful experience for expectant parents. However, it can also become quite overwhelming, especially when it comes to your unborn baby’s health. At Precious Clinic for Advanced Fetal Medicine, we understand that the health of your ‘precious’ one is of utmost importance. And that is why, we offer different types of screening tests including Down’s Syndrome Screening in Pune.

What Is Down’s Syndrome?

Down’s Syndrome, sometimes also known as trisomy 21, is a genetic condition caused due to the presence of an extra chromosome 21. This chromosomal disorder leads to various intellectual disabilities. Individuals with Down’s Syndrome can also look a bit different from other people and face additional health issues.

The symptoms of the condition may range from mild to severe. In addition to developmental problems, common physical signs of Down’s Syndrome include a flat facial profile, slanted eyes that point upward, a short neck, small ears, short stature, poor muscle tone and loose joints. Common problems faced by those with Down’s Syndrome in childhood include hearing loss, ear infections, sleep apnea, eye issues, bowel issues and heart defects.

Prenatal Down’s Syndrome Screening in Pune

Did you know Down’s Syndrome can easily be detected while in the womb itself? There are a range of prenatal tests available for Down’s Syndrome screening – these tests are not diagnostic; they are only tools to see if your baby has a high chance of being born with a chromosomal condition such as Down’s Syndrome. The screening tests give you the probability of your baby having this genetic condition.

Usually, a test for Down’s Syndrome is offered to all pregnant women to assess the risk of the baby being born with this. If your screening test comes back as ‘high-risk’, then you will usually be offered a diagnostic test.

The Importance of Prenatal Down’s Syndrome Screening

Prenatal screening for Down syndrome allows parents to make informed decisions about their pregnancy. Recognising the possibility of Down syndrome early on allows couples to examine available options, such as genetic counselling, and plan for any potential challenges.

Screening Methods

Several screening methods are available to assess the risk of Down syndrome:

First-trimester combination screening: Between 11 and 13 weeks of pregnancy, a blood test and an ultrasound are performed. It detects biochemical markers in the mother’s blood and determines the thickness of the fetal nuchal translucency (NT), a fluid-filled gap in the back of the baby’s neck. This test has a Downs syndrome detection rate of approx. 85-90%
Second-trimester screening: This blood test, usually performed between 16 and 20 weeks, detects alpha-fetoprotein, human chorionic gonadotropin (hCG), Inhibin A and oestriol. This test has a Downs syndrome detection rate of approx. 80%
Integrated screening: This method integrates screening findings from the first and second trimesters to provide a more accurate risk estimate.
Non-invasive prenatal testing (NIPT): NIPT is the latest and most advanced screening test for Downs syndrome which analyses fetal DNA in the mother’s blood and is highly accurate in detecting Down syndrome with a detection rate of as high as approx. 99%.

Diagnostic Tests

Diagnostic tests provide a definitive diagnosis of Down syndrome:

Chorionic villus sampling (CVS): Chorionic villus sampling is collecting a tiny amount of placental tissue for genetic study. It can be conducted as early as 11-14 weeks of gestation.
Amniocentesis: Amniocentesis is a process that extracts a small volume of amniotic fluid for genetic testing. It is normally done after 16 weeks of pregnancy.

Counselling and Support

Regardless of the screening or diagnostic test results, comprehensive counselling is required.

Expectant parents rely heavily on fetal medical specialists to explain the significance of test findings, address worries, and provide assistance.

If a Down syndrome diagnosis is confirmed, fetal medicine experts can provide thorough information about the disorder, its potential effects on the baby and accessible resources.