Detecting Down Syndrome in Babies: Doctors’ Methodology (65 characters)

Screening Tests for Down Syndrome During Pregnancy

Here at our medical facility, we understand how important it is for expectant mothers to know whether their child is at risk for genetic abnormalities. Down Syndrome, a genetic disorder that affects the cognitive and physical development of those who have it, is one such condition that requires early detection. Today, we want to share some important information about prenatal screening tests that can predict the likelihood of a child being born with Down Syndrome.

What is Down Syndrome?

Down Syndrome is a genetic disorder that occurs when an individual has an extra copy of chromosome 21. This leads to some developmental delays, cognitive dysfunction and other physical traits, which may include low muscle tone, slanted eyes, and a flattened bridge of the nose. It is important to note that not every person with Down Syndrome possesses all of these characteristics.

How is Down Syndrome diagnosed during pregnancy?

During pregnancy, expectant mothers can undergo tests to check if the fetus has any genetic abnormalities. One such test is Nuchal Translucency (NT), which is an ultrasound-based test. Another test is dual marker test (blood test) which includes Pregnancy-Associated Plasma Protein-A (PAPP-A) and the pregnancy hormone known as Human Chorionic Gonadotropin (HCG). These two tests have good reliability, so pregnant women should consider doing them to pick up common genetic problems.

Screening Tests for Down Syndrome

Non-Invasive Prenatal Tests (NIPS):

This is non-invasive in nature, and the test is performed from the mother’s blood. Non-Invasive Prenatal Tests (NIPS) are performed as early as nine weeks of pregnancy and results are available within seven days.

Diagnostic Tests:

Diagnostic tests are invasive in nature and are being performed on amniotic fluid (AF) or chorionic villus sample (CVS). An amniocentesis procedure for genetic testing is typically performed at 16-20 weeks while Chorionic Villus Sampling (CVS) is done at 11-13 weeks of pregnancy.

Conventionally chromosomal Karyotyping and fluorescent in situ hybridization (FISH):

Karyotyping usually takes 15-20 days for the reporting as it involves the process of culture of cells. FISH is the gold standard for the detection of five common aneuploidy detection. This is the only technique to detect low-level mosaicism.

Microarray:

This is a molecular cytogenetic technique with very high resolution. Recently, we launched Cyto-one test, which is an upgraded version of existing microarray tests. Microarray can detect microdeletions/microduplications that provide better coverage of fetal disorders.

PAN – Prenatal Aneuploidy Test:

The Pan test is capable of detecting abnormalities on all chromosomes and sub-chromosomal regions. The advantage is that it has better sensitivity and detection capabilities than the current test. It can detect more disorders and covers all chromosomes instead of just 5, which expands its scope and coverage. The test has a quick turnaround time of 48-72 hours and costs the same as the previous tests, making it more accessible to doctors and patients.

Conclusion

It’s important for pregnant women to know about these screening tests and diagnostic tests for assessing the risk of Down Syndrome in their unborn child. We would advise speaking with your doctor and a geneticist about what the implications of the these finding should be discussed with the condition’s experts, including a medical geneticist as well as your doctor, if a diagnostic test reveals a genetic anomaly.#Heres #doctors #detect #baby #born #syndrome