Carrier Screening · Nagpur

Carrier Screening & Family Genetic History in Nagpur

Dr. Kunda Shahane — MBBS · MS (Obs & Gynae) · FIFM · FMF (London). Thalassaemia and sickle cell carrier testing, family history assessment and counselling, before pregnancy or in early pregnancy.

Before pregnancy or first trimester Blood test, no fasting Counselling with the doctor who orders the test

WhatsApp for an appointment Call +91 712 6692706

3–4%Average β-thalassaemia carrier rate in India

1 in 4Risk to each pregnancy when both partners carry the same condition

20,000+Fetuses evaluated by Dr. Kunda Shahane

14+ yrsIn fetal medicine, after MS (Obs & Gynae)

The short answer

Carrier screening is a blood test that tells you whether you silently carry a gene for an inherited condition such as beta-thalassaemia or sickle cell disease. Carriers are healthy and almost never know. The test matters only when both partners carry the same condition — then each pregnancy carries a one-in-four chance of an affected child, and that is something you can know about and plan for in advance rather than discover after a baby is born. In Vidarbha, where both thalassaemia and sickle cell are established in the population, this is one of the few tests that changes what happens next for an entire family.

Who performs and interprets it

A gynaecologist first, then fetal medicine

Dr. Kunda Shahane qualified in obstetrics and gynaecology and taught it at university level before subspecialising into fetal medicine. That order matters here. Carrier screening is not a test you send off and read from a printout — deciding which test to order depends on the family history, the community, the blood counts and what an earlier pregnancy did. The person taking that history is the same person who interprets the result, counsels the couple, arranges prenatal diagnosis if it is needed, and manages the pregnancy afterwards.

She is Central India's first dedicated fetal medicine specialist, with 20+ years in medicine and 14+ years in fetal medicine.

At a glance

What it is: Blood test for inherited carrier status
Ideal timing: Before conception; otherwise as early in pregnancy as possible
Sample: Simple blood draw — no fasting, no preparation
Usual first tests: Complete blood count with red cell indices, plus HPLC
Partner testing: A laboratory test; your husband does not need his own consultation
If both are carriers: Genetic counselling, then prenatal diagnosis by CVS or amniocentesis
Result discussion: In person with Dr. Kunda, not by report alone

What it is

Being a carrier is not being ill

Most inherited blood disorders are recessive. A person inherits two copies of each gene — one from each parent. If only one copy carries the change, the second working copy does the job and the person is a carrier: healthy, usually unaware, sometimes mildly anaemic in a way that is repeatedly mistaken for iron deficiency. If a child inherits the changed copy from both parents, the condition is expressed.

This is why carrier screening is a couple's test rather than an individual's test. One carrier partner changes nothing. Two carrier partners of the same condition means a 25% chance in every pregnancy that the child is affected, a 50% chance the child is a carrier like the parents, and a 25% chance the child inherits neither copy. The odds reset with each pregnancy — a healthy first child does not make the next one safer.

Screening is screening. A carrier test tells you about the specific conditions it was designed to look for. It is not a check on the health of a baby, it does not rule out other genetic conditions, and a normal result is not a guarantee. What it does, very well, is identify the couples for whom prenatal diagnosis is worth discussing.

Why it matters here

Thalassaemia and sickle cell in Vidarbha

Beta-thalassaemia carriers make up roughly 3–4% of the Indian population on average, and district-level mapping across Maharashtra by the National Institute of Immunohaematology found the frequency varies substantially between neighbouring districts rather than being evenly spread.^1,2 Sickle cell is the second consideration, and it is a Vidarbha issue specifically: under the National Sickle Cell Anaemia Elimination Mission launched in July 2023, Maharashtra's screening districts include Nagpur, Wardha, Bhandara, Gondia, Chandrapur, Yavatmal, Amravati and Gadchiroli — the districts most of this clinic's patients travel from.³

Two practical consequences follow. First, a couple from this region has a materially higher chance of both partners carrying something than the national average suggests. Second, many people here have already been screened once — at school, at a health camp, during a government drive — and either never collected the report or were told a result without being told what it meant for a future pregnancy. Bring whatever paperwork you have. An old HPLC report is often the fastest route to an answer.

Who should be tested

Five situations where this is worth doing now

You are planning a pregnancy

The ideal time. Before conception there is no clock running, results can be confirmed properly, and if both partners turn out to be carriers you have the full range of options and time to think, rather than a decision compressed into a few weeks.

You are newly pregnant

Still useful, and worth doing immediately rather than at the next visit. Prenatal diagnosis by chorionic villus sampling is available from 11 weeks; amniocentesis from 16. Both need the couple's carrier status confirmed first, and laboratory turnaround has to fit inside that window.

Anaemia that never resolves

Persistent mild anaemia with small red cells that does not correct on iron is one of the commonest ways a thalassaemia carrier is finally identified — usually after years of iron tablets. If your haemoglobin has always been slightly low and nobody has explained why, the red cell indices on an ordinary blood count are the first clue.

A previous child or a relative is affected

An affected child confirms both parents are carriers. A relative with thalassaemia, sickle cell disease or an unexplained childhood illness raises the probability substantially. In these families the testing strategy is different — often a direct search for the specific mutation already known in the family.

Consanguineous marriage, or a small community

Marriage within the extended family or within a small endogamous community raises the chance that both partners carry the same change, including rarer conditions that a standard thalassaemia screen would not look for. This is a situation where the family history conversation genuinely determines which tests are ordered.

The tests

What is actually done, and in what order

Complete blood count with red cell indicesAn ordinary blood count, read properly. A low mean corpuscular volume and low mean corpuscular haemoglobin with a normal or high red cell count is the pattern that raises suspicion of a thalassaemia carrier. This is often already available from a routine antenatal profile.
HPLC or haemoglobin electrophoresisThe confirmatory test. High-performance liquid chromatography separates the haemoglobin fractions; a raised HbA2 identifies the beta-thalassaemia carrier, and HbS is identified in the same run. This single test covers both of the conditions that matter most in this region.
Solubility test for sickle cell, where usedWidely used as a field screening test in the government programme. It is a screen, not a confirmation — a positive solubility test is confirmed on HPLC, which also distinguishes sickle cell trait from sickle cell disease and from HbS/beta-thalassaemia.
Iron studies where the picture is mixedIron deficiency is extremely common in Indian women and it can mask a thalassaemia carrier by suppressing HbA2. When both are possible, iron status is corrected or accounted for before the HPLC is called normal. Getting this wrong is the classic way a carrier is missed.
Your partner's sampleTested the same way. This is a laboratory test and does not require your husband to consult Dr. Kunda — Dr. Kunda's clinical practice is for women patients, and his report is reviewed with you. If he needs treatment for anything found, he is advised to see his own physician.
DNA mutation analysis, when indicatedIf both partners are carriers, the exact mutations are characterised, because prenatal diagnosis needs to know what it is looking for. This is also the route when there is an affected relative and the family mutation is already known.

The family history

The conversation that decides which tests get ordered

A carrier panel only looks for what it was told to look for. The family history is what determines the panel. Families almost never arrive with a tidy list of diagnoses — they arrive with fragments, and the fragments are the useful part.

Worth mentioning, even if it seems unrelated

Repeated miscarriages, on either side of the family
A child who died young without a clear explanation
Severe or lifelong anaemia in any relative
Anyone who has needed repeated blood transfusions
A relative with recurrent severe pain episodes
Marriage within the extended family, in any generation
A diagnosis nobody in the family fully understood
Old reports, screening cards or camp results — bring them

What this page will not do

Reveal or discuss the sex of a fetus — illegal, and never done here
Promise that a normal carrier screen means a healthy baby
Replace a consultation with an online risk calculator
Tell you what decision to make if both of you are carriers
Test your husband in a consultation — his sample goes to the laboratory

If both partners are carriers

What happens next

This is the result the test exists to find, and it is not an emergency. It means a 25% chance in each pregnancy that the child is affected — and therefore a 75% chance the child is not. The next step is a genetic counselling session where the specific condition, its severity, and the realistic options are set out properly, with time to ask questions.

If you are already pregnant, prenatal diagnosis can establish whether this particular fetus is affected. Chorionic villus sampling is performed from 11 weeks and amniocentesis from 16 weeks; both are ultrasound-guided procedures performed by Dr. Kunda herself, and both need the parents' mutations characterised beforehand so the laboratory knows what to test the sample for. If you are not yet pregnant, the same information is available to you in advance, which is the whole argument for testing before conception.

Whichever route applies, the decision is the couple's. The clinic's job is to make sure it is an informed one.

Who looks after you after the result

A carrier result is only useful if someone acts on it. The same specialist who takes your history and orders the test also interprets the report, counsels you both, performs the CVS or amniocentesis if it is needed, and then manages the pregnancy — including the anaemia, the growth scans and the delivery planning. There is no handover between a scan centre, a laboratory and an obstetrician, and no result left sitting in a file waiting for someone to explain it.

About Dr. Kunda Shahane · About the centre

Cost

Carrier screening cost depends on what is actually needed: a blood count with HPLC for one partner is a modest laboratory charge, while DNA mutation analysis for a couple, or a prenatal diagnostic procedure, costs considerably more. Because the right test depends on your history and on any reports you already hold, there is no single figure that would be honest to publish here.

WhatsApp the clinic or call +91 712 6692706 for current charges for your situation. If you have already been screened somewhere else, say so — it often reduces what needs repeating.

Watch

First child with a genetic problem — planning the next pregnancy

Questions patients ask

Frequently asked questions

I feel completely healthy. Why would I be a carrier?

Because carriers are healthy. That is what the word means. A carrier has one changed copy of the gene and one working copy, and the working copy is enough. Some carriers have a mild anaemia that has been treated as iron deficiency for years, but many have entirely normal-looking blood counts. The only way to know is to test.

Do both of us need testing, or is one enough?

Start with one — usually the woman, since she is already having blood taken. If that result is normal for the conditions tested, the couple's risk for those conditions is very low and the partner may not need testing. If it shows carrier status, the partner's test becomes the important one, because the risk to a pregnancy only arises when both carry the same condition.

My husband cannot come to the clinic. Is that a problem?

No. His carrier test is a laboratory blood test and does not need a consultation with Dr. Kunda, whose clinical practice is for women patients. His sample can be given at the laboratory and the report is reviewed with you. If the result means he needs any treatment himself, he is advised to see his own doctor.

We were screened at a government camp. Do we need to repeat it?

Often not, if you can produce the report. Solubility testing used in field screening is a screen rather than a confirmation, so a positive result is confirmed on HPLC — but a properly done HPLC report from anywhere is usually accepted as it stands. Bring every card and printout you have, including old ones.

Will this tell me if my baby is healthy?

No, and it is important to be clear about that. Carrier screening looks at the parents, not the fetus, and only for the conditions tested. It cannot exclude other genetic conditions, structural abnormalities or chromosomal problems — those are addressed by prenatal screening and the detailed anomaly assessment, which are separate things.

Can you tell us the sex of the baby during any of this?

No. Disclosure of fetal sex is illegal in India under the PCPNDT Act, 1994, and is not done at this centre under any circumstances, in any test, in any language, for any reason. Prenatal diagnosis here is performed only to answer the medical question it was ordered for.

If both of us are carriers, what are the actual odds?

One in four for each pregnancy that the child is affected, two in four that the child is a healthy carrier like you, and one in four that the child inherits neither changed copy. These odds apply independently to every pregnancy — having one unaffected child does not improve them for the next.

How early in pregnancy should we do this?

As early as possible. Prenatal diagnosis by CVS starts at 11 weeks and amniocentesis at 16, and both need the couple's carrier status and mutations confirmed beforehand. Working backwards from those windows, testing in the first few weeks leaves room. Before pregnancy is better still.

Dr. Kunda's note

When taking a family history, I look for more than just named genetic diseases. I ask about repeated miscarriages, severe anemia, and vague diagnoses nobody fully understood. A small, seemingly unrelated detail can completely change the carrier tests I suggest. Family history is invaluable precisely because families often don't realize what matters.

Dr. Kunda Shahane MBBS · MS (Obs & Gynae) · FIFM · FMF (London)

Written and medically reviewed by Dr. Kunda Shahane, MBBS, MS (Obs & Gynae), FIFM, FMF (London) · Last reviewed: 25 August 2026

Sources

Colah R, et al. Burden of thalassemia in India: the road map for control. Pediatric Hematology Oncology Journal — average beta-thalassaemia carrier frequency in India of 3–4%.
Colah R, et al. Epidemiology of beta-thalassaemia in Western India: micromapping of frequencies and mutations in sub-regions of Maharashtra and Gujarat. National Institute of Immunohaematology (ICMR), Mumbai. PubMed 20230396
National Sickle Cell Anaemia Elimination Mission, Ministry of Health and Family Welfare, Government of India, launched 1 July 2023. sickle.nhm.gov.in · Maharashtra district list: Public Health Department, Government of Maharashtra

Book a carrier screening consultation

Bring any previous blood reports, screening cards or camp results — yours and your husband's. If a relative has thalassaemia or sickle cell disease, bring their reports too.

WhatsApp +91 8087471244 Call +91 712 6692706

Mayflower Clinic, Surdham Complex, Behind Silver Palace Building, 2nd Lane from Panchsheel Square, Opp. Yashwant Stadium, Dhantoli, Nagpur – 440012 · Monday–Saturday, 10:00 AM – 6:00 PM · Sunday closed

PCPNDT Act Notice: Mayflower Fetal Medicine Centre strictly complies with the Pre-Conception and Pre-Natal Diagnostic Techniques (Prohibition of Sex Selection) Act, 1994. Sex determination and sex-selective practices are strictly prohibited and punishable by law. All ultrasound and prenatal diagnostic services at this centre are performed exclusively for lawful medical indications — fetal anatomy assessment, fetal wellbeing, and diagnosis of maternal-fetal conditions. Disclosure of fetal sex is illegal and is not performed at this centre under any circumstances.

Medical Disclaimer: This page is for general patient education only and does not constitute medical advice, diagnosis, or treatment. Please consult Dr. Kunda Shahane or your treating obstetrician for advice specific to your pregnancy.