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Trisomy 21 Risk Assessment · Nagpur

Down Syndrome Screening in Nagpur

Clear, ethical and expert pregnancy screening for Down syndrome risk — using NT scan, first trimester combined screening, NIPT counselling and diagnostic testing pathway when required.

FMF
London
Protocol

Screening interpreted by a fetal medicine specialist

At Mayflower Fetal Medicine & High-Risk Pregnancy Centre, Down syndrome screening is guided by Dr. Kunda Shahane, MBBS, MS (Obs & Gynae), FIFM, FMF (London) — Central India's first dedicated fetal medicine specialist, with nearly two decades of experience and 20,000+ fetuses evaluated. Read doctor profile →

11–14 weeks screening window for NT scan
T21 medical name: Trisomy 21
10+ weeks onward for NIPT in suitable cases
1:1 individual counselling for every high-risk result
01 · Understanding the test

What is Down syndrome screening?

Down syndrome screening is a pregnancy risk assessment for Trisomy 21, a chromosomal condition caused by an extra copy of chromosome 21. The purpose of screening is not to create fear, but to identify pregnancies that may need more detailed counselling, further testing, or planned care.

Screening can be done through ultrasound markers, maternal blood tests, or cell-free DNA testing depending on gestational age, medical history, previous results and parental preference. A screening result gives a chance estimate. It does not by itself confirm or rule out Down syndrome.

Important: A low-risk result is reassuring but not a guarantee. A high-risk result is not a diagnosis. The next step is calm explanation, genetic counselling, and discussion of confirmatory options.
NT

NT Scan

Measures the fluid space at the back of the fetal neck and checks early structural markers at 11–14 weeks.

β

Combined Screening

Combines NT scan with maternal blood markers such as PAPP-A and free beta-hCG for personalised risk.

DNA

NIPT Counselling

Uses placental DNA fragments in maternal blood to screen for common trisomies. It is still a screening test.

02 · Screening options

Which tests are used for Down syndrome screening?

The right test depends on how many weeks pregnant you are, whether you already had an NT scan, whether any scan marker is present, your previous pregnancy history and what level of certainty you want before making decisions.

Test / pathway Usual timing What it tells us When it is useful
NT scan 11 weeks to 13 weeks 6 days Risk estimate using nuchal translucency, CRL and early markers First-line early pregnancy screening, especially when done by an FMF-trained specialist
First trimester combined screening Usually 11–14 weeks Combines NT measurement with maternal blood markers for a personalised risk figure Useful when parents want structured risk assessment in the first trimester
NIPT / cfDNA screening From around 10 weeks onward Screens placental DNA in maternal blood for common trisomies including Trisomy 21 Useful after counselling, especially after intermediate/high-risk screening or when parents prefer a more advanced non-invasive screen
CVS First trimester diagnostic option when appropriate Provides fetal chromosomal diagnosis through placental tissue sampling Discussed when a confirmatory answer is needed early, after specialist counselling
Amniocentesis Usually second trimester onward Provides diagnostic chromosomal testing using amniotic fluid Used when screening or scan findings indicate the need for confirmation
03 · Timing

When should I book Down syndrome screening?

The most important window is the 11–13 weeks 6 days period, when the NT scan can be performed accurately. This is why early dating of pregnancy matters. If your dates are uncertain, a dating scan before the NT scan may be needed.

1

6–10 weeks: confirm pregnancy and dates

A viability or dating scan helps confirm the pregnancy location, heartbeat, number of fetuses and gestational age. Correct dating is important for every screening calculation.

2

11–13 weeks 6 days: NT scan and early screening

This is the key window for nuchal translucency measurement and first trimester screening. Blood markers or NIPT may be added depending on your clinical situation.

3

After results: counselling and next-step planning

Low-risk, intermediate-risk and high-risk results are explained clearly. Further testing is offered when clinically indicated, but the decision remains informed and patient-centred.

04 · What Dr. Kunda evaluates

Screening is more than one number

A good screening visit combines technical accuracy, correct timing, careful ultrasound assessment, proper risk calculation and compassionate interpretation. The result should never be handed over without explanation.

Ultrasound markers

NT measurement, fetal crown-rump length, early structural assessment and associated markers are reviewed carefully using fetal medicine protocols.

Maternal factors

Maternal age, gestational age, previous pregnancy history, IVF history, twin pregnancy status and earlier reports are considered before counselling.

Blood-test interpretation

Combined screening or NIPT reports are explained in simple language — what is screened, what is not screened, and whether confirmation is needed.

Next-step planning

If risk is increased, Dr. Kunda discusses genetic counselling, detailed scan review, NIPT, CVS or amniocentesis depending on gestational age and clinical need.

05 · Understanding results

Low risk, intermediate risk, high risk — what does it mean?

Down syndrome screening results are usually expressed as a risk ratio. The exact cut-offs may vary by laboratory and protocol, but the principle remains the same: the number tells us whether the pregnancy is likely to need routine care, further non-invasive screening, or diagnostic confirmation.

Result type Meaning What we discuss at Mayflower
Low risk The chance of Trisomy 21 appears low based on the screening method used. Continue routine pregnancy care, anomaly scan timing and follow-up plan.
Intermediate risk The result is not clearly low-risk and may need refinement. NIPT counselling, review of scan markers and whether diagnostic testing is needed.
High risk The chance is increased, but this still does not confirm Down syndrome. Genetic counselling, detailed scan review and diagnostic options such as CVS or amniocentesis.
No-call / failed NIPT Sometimes NIPT does not produce a report due to low fetal fraction or technical reasons. Repeat testing, detailed ultrasound review or diagnostic testing depending on clinical context.
06 · Why specialist counselling matters

Technology gives data. Counselling gives clarity.

Modern screening can produce detailed numbers, but parents need more than a report. They need someone who can explain what the result means, what it does not mean, and what the safest next step is.

“A high-risk screening result is not the end of the conversation. It is the beginning of careful, respectful counselling — with science, honesty and compassion.”

— Dr. Kunda Shahane
07 · GE Voluson Signature Expert

Advanced ultrasound support for early pregnancy assessment

Mayflower Clinic uses the GE Voluson Signature Expert, an AI-enabled fetal ultrasound platform designed to support high-quality obstetric imaging. For screening pages, technology must be described carefully: the machine supports image quality, workflow and consistency, but the final interpretation depends on the fetal medicine specialist.

AI

SonoLyst AI support

Helps with structured fetal anatomy workflow and standard view consistency during scan assessment.

4D

High-resolution imaging

Supports early structural review and detailed fetal assessment when clinically appropriate.

FMF

Protocol-based scanning

Technology is paired with FMF-trained fetal medicine expertise for reliable screening workflow.

08 · Patient pathway

What happens during your visit?

01

Bring your pregnancy records

Carry previous scans, LMP date, IVF dates if applicable, blood reports, prescription and referral note. These help calculate the correct gestational age and choose the correct screening pathway.

02

Ultrasound and clinical review

Dr. Kunda reviews gestational age, fetal heartbeat, early anatomy, NT measurement and relevant markers. In some cases, a transvaginal approach may be advised for better clarity.

03

Blood test / NIPT discussion

Depending on your history and scan result, combined screening or NIPT may be discussed. Screening is always explained before testing.

04

Report explanation and next steps

Your result is explained in understandable terms. If further testing is needed, the pathway is planned without panic and without pressure.

09 · Who should consider screening?

Screening can be discussed with every pregnant woman

Chromosomal screening is not only for “high-risk” pregnancies. Many parents choose screening for early information and planning. Some parents prefer not to screen after counselling. Both choices deserve respect.

All pregnancies

Every pregnant woman can be counselled about screening options and limitations.

Age 35 or above

Advanced maternal age increases baseline chromosomal risk and deserves careful counselling.

Previous affected pregnancy

Past history of chromosomal condition needs early genetic counselling and planned testing.

Increased NT

Raised NT may need chromosomal testing, detailed fetal echo and follow-up even if chromosomes are normal.

Abnormal blood screening

High-risk combined screening or abnormal blood markers should be interpreted by a specialist.

IVF / twin pregnancies

Screening strategy may need modification depending on chorionicity, conception method and gestational age.

10 · FAQs

Frequently asked questions

Can Down syndrome be diagnosed by ultrasound alone?
No. Ultrasound can identify markers that change risk, but it cannot confirm Down syndrome. Confirmation requires diagnostic genetic testing such as CVS or amniocentesis, when clinically indicated.
Is NIPT the same as amniocentesis?
No. NIPT is a highly advanced screening test using maternal blood. Amniocentesis is a diagnostic test. A positive NIPT result usually needs confirmatory diagnostic testing before final decisions.
What if my NT scan is normal?
A normal NT scan is reassuring, but screening is never a guarantee. Dr. Kunda explains whether combined screening, NIPT, routine anomaly scan or other follow-up is appropriate in your case.
What if my screening result is high risk?
Do not panic. High risk means the chance is increased; it does not prove the baby has Down syndrome. The next step is genetic counselling, review of scan findings and discussion of confirmatory testing.
Can I choose not to do screening?
Yes. Screening is a choice. The role of the clinic is to explain benefits, limitations and available options so that parents can make an informed decision.
Which is better: NT scan, combined screening or NIPT?
They answer slightly different questions. NT scan also gives early fetal structural information. Combined screening gives a risk estimate using scan plus blood markers. NIPT is a more advanced non-invasive screen for common trisomies. The best choice depends on your pregnancy and counselling.
Does a low-risk result mean the baby has no problems?
No screening test can guarantee a completely normal baby. A low-risk result reduces concern for the screened conditions, but routine anomaly scan and pregnancy follow-up remain important.
11 · Related services

Related Mayflower pages

Down syndrome screening often connects with first trimester scan, NIPT, genetic counselling and diagnostic procedures. These pages support the complete patient pathway.

Book Down syndrome screening counselling in Nagpur

For NT scan, combined screening, NIPT counselling or a high-risk screening result, consult Dr. Kunda Shahane at Mayflower Fetal Medicine & High-Risk Pregnancy Centre.