Category: Genetic Counselling

Dual Marker Test is Normal – Is Quadruple Marker Still Needed?

Post author By ifm
Post date August 27, 2025
No Comments on Dual Marker Test is Normal – Is Quadruple Marker Still Needed?

When expecting parents receive normal results in the Dual Marker Test, the natural question that follows is:
“Do we still need to do the Quadruple Marker Test?”

At the Institute of Fetal Medicine, Kolkata, this is one of the most frequently asked questions during the second trimester of pregnancy. Let’s break it down for you.

What Is the Dual Marker Test?

The Dual Marker Test is a first-trimester screening typically done between 11 and 13.6 weeks of gestation. It measures two biochemical markers (Free β-hCG and PAPP-A) and, when combined with the NT scan, helps assess the risk of chromosomal conditions such as:

Down syndrome (Trisomy 21)
Edward’s syndrome (Trisomy 18)

If your results are low-risk, it is reassuring — but does that mean no further screening is needed?

What Is the Quadruple Marker Test?

The Quadruple Marker Test is a second-trimester screening typically performed between 15 and 22 weeks of pregnancy. It measures four hormones in the mother’s blood:

Alpha-fetoprotein (AFP)
Human chorionic gonadotropin (hCG)
Estriol (uE3)
Inhibin A

This test provides more accuracy than the Triple Marker Test and helps evaluate the risk of:

Neural tube defects (like spina bifida)
Chromosomal abnormalities (Down syndrome, Trisomy 18)
Certain pregnancy-related complications

It is especially recommended if the first-trimester screening was missed or was inconclusive.

If Dual Marker Test Was Normal, Is Quadruple Marker Necessary?

The Answer Depends On:

Whether a NT scan was done along with the Dual Marker Test
- If both NT scan and Dual Marker were completed and found low risk, and there’s no family or clinical history of concern, Quadruple Marker may not be mandatory.

If the NT scan was missed or unclear

- In that case, the Quadruple Marker Test may be recommended for additional reassurance.

If any soft markers were found in anomaly scan

- Your doctor may suggest a Quadruple Marker Test or NIPT to rule out chromosomal issues.

If first-trimester screening was missed altogether

- Then a Quadruple Marker Test is strongly advised in the second trimester.

Role of Genetic Counselling

At the Institute of Fetal Medicine, Kolkata, we offer individualized counselling to guide you through your screening options. Our goal is to:

Help you understand what your results mean
Avoid unnecessary tests
Recommend only what’s truly needed for your pregnancy

So, What’s the Final Take?

If you had a normal Dual Marker Test with an NT scan, and no risk indicators show up in your second-trimester scans, your doctor may not recommend a Quadruple Marker Test.

However, if there are missed screenings, borderline results, or structural findings, a Quadruple Marker Test may add significant value.

Why Choose Institute of Fetal Medicine, Kolkata?

Experienced fetal medicine consultants and genetic counsellors
Accurate and timely prenatal testing
Personalized risk assessment plans
Trusted center for pregnancy care in Eastern India

Still Confused?

📞 Talk to our fetal medicine team today
📍 Visit Institute of Fetal Medicine, Kolkata for expert guidance
152, Shyama Prasad Mukherjee Rd, Kolkata, West Bengal 700026. Rashbehari crossing, Near Kalighat Metro Gate No. 9

Amniocentesis Test blog page Down Syndrome Fetal Medicine Genetic Counselling Pregnancy Test Thalassemia

Missed the Dual Marker Test? Here’s Why NIPT Was Recommended

Post author By ifm
Post date August 27, 2025
No Comments on Missed the Dual Marker Test? Here’s Why NIPT Was Recommended

Pregnancy is a beautiful journey, but it also comes with important checkpoints to ensure the health of the mother and the baby. One of the crucial tests during the first trimester of pregnancy is the Dual Marker Test. But what happens if this test is missed? In many such cases, doctors recommend NIPT (Non-Invasive Prenatal Testing) as the next best step.

At the Institute of Fetal Medicine, Kolkata, we often address this concern for expecting mothers who miss their first-trimester screening window.

What Is the Dual Marker Test?

The Dual Marker Test is a first-trimester prenatal screening that assesses the risk of chromosomal abnormalities like Down syndrome (Trisomy 21) and Trisomy 18. It’s typically done between 11 and 13 weeks of pregnancy and combines two blood markers (β-hCG and PAPP-A) with ultrasound findings (NT scan).

Why Is It Important?

This test provides early insights into the baby’s genetic health. If the results show a high risk, further diagnostic procedures like chorionic villus sampling (CVS) or amniocentesis may be considered.

Missing this window may delay important decisions, which is why an alternative screening method is often suggested — NIPT.

What Happens If the Dual Marker Test Is Missed?

There are several reasons why expecting mothers may miss this test:

Late registration of pregnancy
Irregular menstrual cycles causing confusion in gestational age
Lack of awareness or delayed referral

In such cases, NIPT (Non-Invasive Prenatal Testing) becomes a reliable and advanced alternative.

Why NIPT Is Recommended

NIPT is a highly accurate, non-invasive blood test that analyzes fetal DNA in the mother’s blood to detect chromosomal abnormalities. It can be done as early as 10 weeks of gestation and upto term and is especially useful if the dual marker test is missed.

Advantages of NIPT:

Over 99% accuracy for detecting common chromosomal conditions
Safe for both mother and baby
No risk of miscarriage, unlike invasive tests
Can be done up to 22 weeks

Is NIPT a Replacement for the Dual Marker Test?

While NIPT is more accurate, it’s important to understand that it doesn’t assess everything the dual marker and NT scan do, such as structural abnormalities. Ideally, NIPT is complemented with a detailed anomaly scan around 18-20 weeks.

What Should You Do Next?

If you’ve missed the dual marker test, don’t panic. Consult a fetal medicine specialist at a reputed centre like the Institute of Fetal Medicine, Kolkata, where expert counselling and tailored testing strategies are offered based on gestational age and medical history.

Why Choose Institute of Fetal Medicine, Kolkata?

Experienced team of fetal medicine specialists and genetic counsellors
Advanced testing facilities including NIPT, NT scan, anomaly scan, and more
Personalized care plans for high-risk pregnancies
Centrally located and well-connected clinic in Kolkata

Missing a prenatal test can feel overwhelming, but with medical advancements like NIPT, you still have access to accurate and safe screening options. At the Institute of Fetal Medicine, Kolkata, we help you make informed decisions for a healthy pregnancy and a healthy baby.

Looking for guidance?

📞 Call us today to speak to a fetal medicine expert
📍 Visit the Institute of Fetal Medicine, Kolkata

152, Shyama Prasad Mukherjee Rd, Kolkata, West Bengal 700026. Rashbehari crossing, Near Kalighat Metro Gate No. 9

blog page Down Syndrome Fetal Medicine Genetic Counselling Pregnancy Test Thalassemia

Which Scan in Pregnancy Tells Us if the Unborn Has Down Syndrome?

Post author By ifm
Post date August 27, 2025
No Comments on Which Scan in Pregnancy Tells Us if the Unborn Has Down Syndrome?

Down syndrome is a common genetic disorder caused by an extra copy of chromosome 21. Early detection during pregnancy helps parents prepare and make informed decisions. This article explains which scans can detect Down syndrome and how they work.

Understanding Down Syndrome Screening

Down syndrome cannot be diagnosed with a standard ultrasound scan alone. Instead, specific screening tests and diagnostic procedures are used during pregnancy.

Key Scans and Tests for Down Syndrome Detection

Nuchal Translucency (NT) Scan (11-14 weeks):
This ultrasound measures the fluid-filled space at the back of the fetus’s neck. A thicker NT measurement may indicate a higher risk for Down syndrome and other chromosomal abnormalities. It is part of the first-trimester combined screening test.
First-Trimester Combined Screening:
Combines NT measurement with maternal blood tests measuring pregnancy-associated plasma protein A (PAPP-A) and free beta-hCG. Together, they provide a risk estimate for Down syndrome.
Second-Trimester Quadruple (Quad) Test (15-20 weeks):
A blood test measuring four substances in the mother’s blood: alpha-fetoprotein (AFP), hCG, estriol, and inhibin-A. It helps assess the risk of Down syndrome.
Non-Invasive Prenatal Testing (NIPT):
A blood test analysing fetal DNA in the mother’s blood to detect chromosomal abnormalities, including Down syndrome, with high accuracy.
Diagnostic Tests:
If screening tests show high risk, diagnostic tests like Chorionic Villus Sampling (CVS) or Amniocentesis provide a definitive diagnosis by analysing fetal chromosomes.

Why Regular Ultrasound Alone Is Not Enough

Routine ultrasounds can show physical markers that raise suspicion but cannot confirm Down syndrome. Specialized scans combined with blood tests and NIPT offer reliable screening.

When Should These Scans Be Done?

Test/Scan	Timing	Purpose
NT Scan + First Trimester Blood Test	11 to 14 weeks	Initial risk assessment
Quad Test	15 to 20 weeks	Second trimester risk screening
NIPT	As early as 9 weeks	High accuracy non-invasive screening
CVS or Amniocentesis	10-13 weeks (CVS) / 15-20 weeks (Amnio)	Diagnostic confirmation

The NT scan, combined with blood tests and NIPT, is the cornerstone of Down syndrome screening during pregnancy. For a definitive diagnosis, invasive diagnostic tests are necessary. Early screening and counselling empower parents with knowledge and choices.

blog page Down Syndrome Fetal Medicine Genetic Counselling

Does Lack of Preconception Counselling Increase Risk of Miscarriages and Birth Defects?

Post author By ifm
Post date August 27, 2025
No Comments on Does Lack of Preconception Counselling Increase Risk of Miscarriages and Birth Defects?

Preparing for a healthy pregnancy goes beyond just planning the timing—it involves proactive measures that optimize health and reduce risks before conception. This is where preconception counselling plays a vital role. Unfortunately, skipping this crucial step can increase the chances of pregnancy complications such as miscarriages and birth defects. This article explores why preconception care matters and how its absence can impact pregnancy outcomes.

What is Preconception Counselling?

Preconception counselling is a comprehensive medical consultation carried out before pregnancy. It involves:

A thorough medical evaluation to identify and manage any existing health conditions.
Lifestyle assessment focusing on diet, exercise, and avoidance of harmful substances.
Genetic counselling to assess inherited risks based on family history.
Planning for necessary prenatal vitamins (like folic acid) and vaccinations to protect both mother and baby.

This preparation equips couples with the best possible foundation for a healthy pregnancy.

How Lack of Preconception Care Can Impact Pregnancy

When preconception counselling is missed or neglected, several risks may go unaddressed, increasing chances of adverse outcomes:

Uncontrolled Chronic Conditions:
Conditions such as diabetes, hypertension, and thyroid disorders, if not well-managed before conception, significantly increase the risk of miscarriage and complications during pregnancy.
Nutritional Deficiencies:
Inadequate intake of folic acid before and during early pregnancy is strongly linked to neural tube defects and other congenital malformations.
Undiagnosed Genetic Risks:
Without genetic counselling, couples may be unaware of inherited conditions they could pass on, leading to a higher chance of birth defects or genetic disorders in the baby.
Exposure to Harmful Substances:
Lack of guidance on avoiding smoking, alcohol, and certain medications can lead to fetal harm or developmental problems.
Untreated Infections:
Infections such as rubella, toxoplasmosis, and cytomegalovirus, if not detected and treated before pregnancy, may cause severe fetal abnormalities.

Benefits of Preconception Counselling

Engaging in preconception care offers multiple advantages:

Improved Pregnancy Outcomes:
Proactive health management reduces complications and promotes smoother pregnancies.
Reduced Risk of Miscarriage and Birth Defects:
Identifying and addressing risks early helps prevent many avoidable problems.
Education on Healthy Behaviours:
Parents learn about lifestyle choices that support fetal health and wellbeing.
Early Identification and Management of Health Issues:
Medical conditions can be optimized before pregnancy to ensure safer outcomes.

While not all miscarriages or birth defects can be prevented, preconception counselling is a powerful tool that significantly lowers risks and empowers prospective parents. Women planning pregnancy are encouraged to seek this counselling to maximize their chances of having a healthy baby and a safe pregnancy journey.