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Aneuploidy Screening – Detecting Chromosomal Conditions

Aneuploidy refers to the presence of an abnormal number of chromosomes in the baby, which can lead to conditions such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), or Patau syndrome (Trisomy 13).

What is it?
This test combines a blood test (PAPP-A, free beta hCG) with a nuchal translucency scan between 11 and 13+6 weeks.

What does it screen for?
Risk of Trisomy 21, 18, and 13. Enhanced FTS may include additional ultrasound markers such as nasal bone, ductus venosus flow, and tricuspid regurgitation for improved accuracy.

How accurate is it?
Up to 90–95% detection rate when combined with ultrasound markers.

What is the Penta Marker test?
The Penta Marker Test is an expanded version of First Trimester Screening (FTS) that uses five biochemical markers to assess the risk for Down syndrome.

Is the Penta Marker Test suitable for all pregnancies?
Yes, it is suitable for all pregnancies, but especially beneficial for:

  • Women with borderline results on standard screening
  • Those seeking increased accuracy in early pregnancy
  • Pregnancies with higher baseline risk, such as advanced maternal age or assisted conception

What is the Quadruple Test?
The Quadruple Test is a second-trimester blood screening that estimates the risk of chromosomal conditions, particularly Down syndrome (Trisomy 21). It is also known as the Quad screen.

When is it performed?
Ideally between 16 and 21 weeks of pregnancy for best accuracy.

Who is it suitable for?

  • Women who missed first-trimester screening
  • Those presenting for antenatal care after 14 weeks
  • Where NIPT is unavailable or unaffordable

What does it screen for?
Primarily: Down syndrome (Trisomy 21)
May also indicate:

  • Trisomy 18 (Edwards syndrome)
  • Certain pregnancy-related risks (e.g., pre-eclampsia, placental insufficiency)

Is it diagnostic?
No. It is a screening test. A high-risk result requires confirmation through diagnostic testing such as amniocentesis.

How are results interpreted?
Risk calculation is based on biomarker levels and maternal factors like age, weight, gestational age, and diabetic status. A positive screen indicates elevated risk and prompts further evaluation.

What if the result is high risk?

  • Referral for genetic counseling
  • Detailed ultrasound scan
  • Diagnostic procedures like amniocentesis
  • Possibly offering NIPT as a next step

Is it needed if I’ve already done NIPT?
No. If NIPT has already been performed, the Quadruple Test is not required for chromosomal screening.

Is the Quadruple Test accurate?
It detects up to 80% of Down syndrome cases when performed during the optimal gestational window (16–20 weeks). However, it remains a screening—not a diagnostic—test.

What is NIPT?
NIPT is a highly sensitive blood test that analyzes cell-free fetal DNA in the mother’s blood to assess for certain chromosomal abnormalities.

Which conditions can NIPT screen for?

  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome)
  • Optional: Sex chromosome aneuploidies and selected microdeletion syndromes

When can it be done?
From 10 weeks of pregnancy onward.

Who should consider NIPT?

  • Women above 35 years of age
  • Those with abnormal serum screening results
  • Pregnancies with a family history of Down syndrome

How accurate is it?
NIPT offers over 99% sensitivity for Down syndrome with a low false-positive rate.

Is it diagnostic?
No. It is a screening test. High-risk results should be confirmed through diagnostic procedures like amniocentesis or chorionic villus sampling (CVS).

How is it performed?
A simple maternal blood sample is taken. It is safe and non-invasive.

How soon are results available?
Results are typically available within 7–10 working days, depending on the test panel.

Can it be done in twin or IVF pregnancies?
Yes. While slightly less sensitive in twin pregnancies, NIPT is valid and commonly used in twin, IVF, and donor egg pregnancies.

What is Pre-Eclampsia?
Pre-eclampsia is a serious complication marked by high blood pressure, typically after 20 weeks of pregnancy, which can have detrimental effects on both the mother and baby.

When is it screened for?
Screening typically occurs between 11 and 13+6 weeks of pregnancy, using:

  • Uterine artery Doppler
  • Mean arterial pressure
  • PAPP-A and PLGF blood markers
  • Maternal clinical history

Why is this important?
Starting low-dose aspirin before 16 weeks in high-risk women can prevent or reduce the severity of pre-eclampsia by up to 60%.

Who is at risk?
Women at higher risk include those who:

  • Are first-time mothers
  • Have a history of pre-eclampsia
  • Are undergoing IVF pregnancies
  • Are carrying multiple gestations
  • Have hypertension, diabetes, or autoimmune disease

How is the risk for pre-eclampsia calculated?
Risk is calculated using a combination of maternal factors, mean arterial pressure, uterine artery Doppler measurements, and biochemical markers (PlGF and PLGF). These factors are analyzed using FMF-approved software to estimate the likelihood of developing early- or late-onset pre-eclampsia.

What happens if I’m found to be at high risk?
If your risk is high, your doctor will recommend starting low-dose aspirin (150 mg daily) before 16 weeks, continuing until 36 weeks. You will also be monitored more closely with regular scans to assess fetal growth and placental health.

Is pre-eclampsia screening necessary for low-risk women?
Yes. Even women with no obvious risk factors may develop pre-eclampsia. Early screening ensures timely prevention in those who may be unknowingly at risk.

What is Preterm Labour?
Preterm labour is defined as labour occurring before 37 weeks of pregnancy, which increases the risk of complications such as respiratory distress and developmental delays in the baby.

How is it screened?

Screening typically involves:
  • Transvaginal cervical length measurement between 20–24 weeks
  • Review of maternal history
  • Fetal fibronectin test in select cases

What if I’m high-risk?

If you are considered high-risk, management options may include:
  • Vaginal progesterone
  • Cervical cerclage
  • Closer monitoring

Why Choose NCare IVF for Prenatal Screening?

  • Internationally guided protocols
  • Advanced ultrasound and genetic technologies
  • Experienced maternal-fetal specialists
  • Personalized counseling and support throughout your journey

Our goal is to provide every expecting parent with peace of mind and proactive care through world-class prenatal screening.

Not Sure Which Screening Test You Need? Let Us Help.

Our team will guide you on the right tests based on your stage of pregnancy, risk factors, and medical history—so you can move forward with clarity and confidence.

Why Choose NCare IVF for Prenatal Screening?

Our goal is to provide every expecting parent with peace of mind and proactive care through world- class prenatal screening.

IconInternationally guided protocols
 IconAdvanced ultrasound and genetic technologies
IconExperienced maternal-fetal specialists
IconPersonalized counseling and support throughout your journey

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