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.
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 →
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.
Measures the fluid space at the back of the fetal neck and checks early structural markers at 11–14 weeks.
Combines NT scan with maternal blood markers such as PAPP-A and free beta-hCG for personalised risk.
Uses placental DNA fragments in maternal blood to screen for common trisomies. It is still a screening test.
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 |
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.
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.
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.
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.
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.
NT measurement, fetal crown-rump length, early structural assessment and associated markers are reviewed carefully using fetal medicine protocols.
Maternal age, gestational age, previous pregnancy history, IVF history, twin pregnancy status and earlier reports are considered before counselling.
Combined screening or NIPT reports are explained in simple language — what is screened, what is not screened, and whether confirmation is needed.
If risk is increased, Dr. Kunda discusses genetic counselling, detailed scan review, NIPT, CVS or amniocentesis depending on gestational age and clinical need.
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. |
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.”
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.
Helps with structured fetal anatomy workflow and standard view consistency during scan assessment.
Supports early structural review and detailed fetal assessment when clinically appropriate.
Technology is paired with FMF-trained fetal medicine expertise for reliable screening workflow.
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.
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.
Depending on your history and scan result, combined screening or NIPT may be discussed. Screening is always explained before testing.
Your result is explained in understandable terms. If further testing is needed, the pathway is planned without panic and without pressure.
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.
Every pregnant woman can be counselled about screening options and limitations.
Advanced maternal age increases baseline chromosomal risk and deserves careful counselling.
Past history of chromosomal condition needs early genetic counselling and planned testing.
Raised NT may need chromosomal testing, detailed fetal echo and follow-up even if chromosomes are normal.
High-risk combined screening or abnormal blood markers should be interpreted by a specialist.
Screening strategy may need modification depending on chorionicity, conception method and gestational age.
Down syndrome screening often connects with first trimester scan, NIPT, genetic counselling and diagnostic procedures. These pages support the complete patient pathway.
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.
Mayflower Fetal Medicine & High-Risk Pregnancy Centre, Dhantoli, Nagpur, provides fetal ultrasound, prenatal diagnosis, fetal echocardiography, Doppler studies, genetic counseling and high-risk pregnancy care under Dr. Kunda Shahane.

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Surdham Complex, Behind Silver Palace Building, 2nd Lane from Panchsheel Sq., Opp. Yashwant Stadium, Dhantoli Nagpur - 440012
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