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Maternal Serum Screening for Down Syndrome


Down syndrome is the most common chromosomal abnormality which is one of the primary causes of intellectual disability. Typically, each cell contains 23 pairs of chromosomes. Down syndrome occurs whe

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Introduction


■ First Trimester Maternal Serum Screening


The First Trimester screening test is done at 8~13+6 weeks of gestation. The test is a combination of two biochemical markers i.e. serum free β-human chorionic gonadotrophin (free β-hCG) and pregnancy associated plasma protein A (PAPP-A) in maternal blood as well as on other clinical parameters (maternal age, weight, and medical history).



To increase the accuracy of results, we recommend including ultrasound measurements (at 11~13+6 weeks) of crown-rump length (CRL) and nuchal translucency (NT) as part of screening. Nuchal Translucency (NT) refers to the gap between the skin of the fetus and the underlying tissue at the nape of the neck. This gap is significantly larger in babies with Down syndrome. When ultrasound measurements are combined with serum screening, the detection rate of Down syndrome is 82~87%.


The First Trimester Maternal Blood Screening Test provides pregnant women with the risk assessment of not only Down syndrome but also Edwards syndrome or Patau syndrome at the same time. For cases with high risk, further examinations are recommended in order to make a more conclusive determination.


■ Second Trimester Maternal Serum Quad Screening


To enhance the quality of Down syndrome screening for pregnant women, SOFIVA has completely replaced β-hCG with free β-hCG, which increases the detection rate of the Quad Screening of Down syndrome. The New Second Trimester Maternal Serum Quad Screening Test detects the levels of free β-hCG, AFP, uE3, and inhibin A in venous blood from the women at 15-20 gestational weeks and combines this data with other clinical parameters to assess the risk of having a baby with Down syndrome. The detection rate of this screening procedure can reach up to 83%!



In addition to providing risk values for Down syndrome, the New Second Trimester Maternal Serum Quad Screening Test also determines risk values for Edwards syndrome and neural tube defects (NTD). For Edwards syndrome, a value less than 1/270 indicates low risk, and a value equal to or greater than 1/270 indicates high risk. For NTD, a value less than 2.5 indicates low risk, while a value equal to or greater than 2.5 indicates high risk. If a screening test result shows a high risk for any of these conditions, additional examinations will be needed for the baby's health.


Indication


• Family history of chromosome abnormality


•Individuals with Habitual abortion


•Pre-marital health examination or prenatal genetic test


•First Trimester of pregnancy


Description


■ Understanding the Results of Down Syndrome Screening Test


Risk value ≧1/270: high risk


This result indicates that the fetus has a high risk of Down syndrome, and further testing is recommended (e.g. Non-Invasive Prenatal Screening (NIPS) or amniotic fluid examination).


Risk value <1/270: low risk


This result indicates that the fetus has a low risk of Down syndrome; however, regular checkups are still recommended to ensure fetal health.


Patient Story


How It Works


■ First Trimester Maternal Serum Screening


Step1. Medical consultation with physician.


Step2. The First Trimester screening test is done at 8~13+6 weeks of gestation. The test is a combination of two biochemical markers i.e. serum free β-human chorionic gonadotrophin (free β-hCG) and pregnancy associated plasma protein A (PAPP-A) in maternal blood as well as on other clinical parameters (maternal age, weight, and medical history).


Step3. The results will be available in 5 working days.


Step4. The physician explains the report and provides clinical recommendations and precautions.


■ Second Trimester Maternal Serum Quad Screening


Step1. Consult a physician to obtain a comprehensive understanding of screening.


Step1. Medical consultation with physician.


Step2.The New Second Trimester Maternal Serum Quad Screening Test detects the levels of free β-hCG, AFP, uE3, and inhibin A in venous blood from the women at 15-20 gestational weeks and combines this data with other clinical parameters to assess the risk of having a baby with Down syndrome.


Step3. The results will be available in 5 working days.


Step4. The physician explains the report and provides clinical recommendations and precautions.


Others


The screening test for Down syndrome is a risk assessment that helps pregnant women determine whether an amniotic fluid examination is needed. A higher risk value does not necessarily reflect chromosomal abnormalities in the fetus, so there is no need to become overly panicked. Any decisions regarding additional examination procedures should still be made based on your doctor's advice.