Down syndrome is caused by an additional chromosome 21, otherwise known as Trisomy 21. It typically affects children's physical and intellectual development, and all this usually happens naturally, irrespective of family history or lifestyle. Doctors can estimate the risk of a baby having the syndrome through Down syndrome test in pregnancy, a part of modern prenatal screening done early in pregnancy.
Early testing helps expecting parents make informed choices, plan medical care and seek appropriate guidance throughout the pregnancy. At Cloudnine Hospital, our team of specialists in maternity, fetal medicine and genetic screening ensures that every expecting mother is treated personally, safely and with advanced care throughout her pregnancy journey.
A Down syndrome test in pregnancy is a combination of prenatal screening and diagnostic tests that estimate the risk of a baby having Down syndrome or other chromosomal abnormalities, including Edwards' or Patau's syndrome.
These tests are optional but highly recommended. Most of them are non-invasive; they involve only blood sampling and ultrasound scanning, which carries no risk to the baby. The intent is not diagnosis but rather the identification of pregnancies in which further confirmatory testing may be necessary.
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Expectant mothers also often ask themselves: at how many weeks is the Down syndrome test done? The ideal time is between 11 and 14 weeks of pregnancy, which falls into the first trimester.
This is important because early detection during this period allows safer diagnostic options and timely counselling. However, if one misses the first-trimester window, a second-trimester screening can still be done, such as a triple or quadruple marker test between 15 and 20 weeks into pregnancy.
The 1st trimester Down's screening test uses an ultrasound scan and a blood test to calculate the risk of the baby having Down syndrome.
This ultrasound scan measures the fluid-filled space at the back of the baby's neck. It's usually performed between 11 and 13 weeks of pregnancy. An NT measurement that is thicker than usual may indicate a higher risk of chromosomal abnormalities.
This test screens two key substances in the mother's blood: free β-hCG and PAPP-A. Abnormal levels of these hormones may be indicative of an increased risk for Down syndrome.
When combined, these tests are referred to as the Combined First Trimester Screening (CFTS). It is totally non-invasive and provides a probability-based result, not a diagnosis.
The 12 week scan for Down's syndrome is also known as the Nuchal Translucency (NT) scan. It is an advanced ultrasonic test conducted at approximately week 12 of pregnancy, but can be performed between weeks 11 and 13. The sonographer will check during scanning:
Taken together, these findings provide a more accurate risk estimate when combined with the Double Marker Test. This assessment, early in pregnancy, helps your doctor decide whether advanced tests are needed.
One of the most modern and precise screening options available today, NIPT analyses small fragments of fetal DNA present in the mother's blood.
Recommended particularly for women above 35 years or those with abnormal first-trimester results
If you miss the first-trimester screening, a triple marker or quadruple marker test may be recommended between 15 and 20 weeks.
These blood tests detect hormone and protein levels to estimate the risk of Down syndrome and other genetic conditions.
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When screening tests indicate a higher risk, physicians would recommend confirmatory diagnostic procedures. These are more accurate but invasive, meaning they involve sampling in the placenta or amniotic fluid.
Both procedures are done under ultrasound guidance by a specialist in fetal medicine to ensure safety and precision.
The results of Down syndrome testing are classified as either low risk or high risk:
At Cloudnine Hospital, we recognise that pregnancy is a joyful yet emotionally sensitive phase. Our fetal medicine experts are specially trained in advanced prenatal screenings such as Down syndrome and genetic anomaly testing.
We use state-of-the-art ultrasound and diagnostic technology so that all our assessments are accurate, early and safe. Each expectant mother receives personalised attention to her needs, compassionate counselling, and continuous support from the first scan through postnatal care.
Our integrated approach ensures you always feel informed, reassured, and cared for at every stage of your pregnancy journey.
Down syndrome testing during pregnancy is an essential part of prenatal care. Early screening not only helps identify potential genetic risks but can also help doctors offer timely advice and support for a safe and well-informed pregnancy experience. Book your prenatal screening at Cloudnine today and take the first step towards a healthy, confident pregnancy.
No, Down syndrome cannot be detected with a regular pregnancy test. It requires special prenatal screening and diagnostic tests.
Screening for Down syndrome is first done between 11 to 14 weeks; if missed, a second-trimester test can be performed between 15 to 20 weeks.
Non-invasive blood tests or ultrasounds do not hurt. Diagnostic testing, such as through amniocentesis or CVS, may be slightly uncomfortable but is done under professional care.
Yes, the 12-week scan (Nuchal Translucency scan) is used to assess the risk of Down syndrome in the baby by measuring fluid at the back of the baby's neck and other fetal markers.
