An Anomaly Found on Your Scan: What Happens Next

There is a particular silence that happens in a scan room. The sonologist stops talking, goes back over the same view three times, measures something twice. And then a sentence that you will remember the exact wording of for the rest of your life.

This page is written for the days immediately after that. Not to reassure you — some of these findings are as serious as they sound — but because in the first week almost everybody makes the same mistake, which is to treat the scan report as the answer. It very often is not.

Finding versus anomaly versus diagnosis

The scan you had is almost certainly the anomaly scan — also called the TIFFA scan or the level 2 scan — usually done between 18 and 22 weeks. It is a screening test. It is very good at flagging things that need a closer look, and much less good at telling you what they are.

Findings fall roughly into three kinds, and the difference between them is the single most useful thing to understand this week.

• Soft markers. A choroid plexus cyst, an echogenic focus in the heart, a slightly dilated renal pelvis, a single umbilical artery. These are not defects. They are appearances that are commoner in babies with a chromosomal problem than in babies without one, so their presence slightly shifts a probability. In isolation, in a low-risk pregnancy, most of them turn out to mean nothing, and many simply disappear on a later scan.
• Structural anomalies. Something is genuinely built differently — a heart chamber, the spine, the abdominal wall, a kidney, the brain. These need a detailed, targeted assessment to establish exactly what and how much.
• Growth or fluid findings. Not an anomaly at all in themselves, but a signal that something needs watching — too little or too much amniotic fluid, a baby measuring behind.

When a report uses words like "suspected", "cannot be excluded", "suboptimal views" or "recommend targeted scan", it is telling you it is uncertain. That is not evasion. That is a screening test doing its job honestly.

The next step is fetal medicine, not a decision

The proper next step after any significant finding is a referral to a fetal medicine specialist, for a targeted scan on high-end equipment by someone whose entire practice is looking at exactly this. All scans, including this one, are arranged by referral — we do not run imaging at the clinic, and for a finding of this kind you would not want it done anywhere except a dedicated fetal medicine unit in any case.

Ask for that appointment as soon as possible. Not because you are on a clock to decide anything, but because the assessment itself takes time — a targeted scan, sometimes a repeat two or three weeks later to see how something evolves, possibly a test whose result takes a fortnight to come back. Weeks spent waiting for an appointment are weeks taken off the end.

The tests that turn a finding into a diagnosis

Which of these you are offered depends entirely on what was seen. Nobody has all of them.

• Targeted (detailed) ultrasound. The core of the assessment. Higher resolution, more time, an operator who does fetal anomalies exclusively. Often this alone changes the picture — in either direction.
• Fetal echocardiography. A dedicated scan of the baby's heart, done because the heart was the finding, or because something else found is associated with heart defects. Congenital heart disease is the commonest serious anomaly there is, and it is also the one most often missed on a routine scan.
• Fetal MRI. Used mainly for the brain, and for some chest and neck findings, where ultrasound has reached its limit. No radiation involved.
• Amniocentesis or chorionic villus sampling. The only way to know the baby's chromosomes and genes for certain. CVS is done earlier, from about 11 to 14 weeks; amniocentesis from about 15 weeks onwards. Both carry a small procedure-related risk of miscarriage, which the fetal medicine unit will quote you for their own practice.
• Chromosomal microarray. Run on the sample from either of those. It finds not only the well-known chromosome problems but small deletions and duplications a standard karyotype cannot see, and it is now the standard test when a structural anomaly has been found.
• Exome sequencing. Offered in some units where a clear anomaly is present and the microarray is normal. It answers more often than it used to, and it also throws up uncertain results, so it comes with counselling attached.

A word about the invasive tests, because this is where people freeze. Many parents refuse amniocentesis on the grounds that they would never terminate the pregnancy. That is a completely legitimate position and it does not follow. The result changes where the baby should be delivered, which specialists should be present, what the paediatric team should be ready for, and what you should be told to expect. It also gives you a recurrence risk for any future pregnancy. Knowing is not the same as acting.

Diagnosis is not prognosis

This is the part that gets skipped, and it is the part that actually matters to you.

"Ventriculomegaly" is a diagnosis. Whether that child will be entirely normal, mildly affected or profoundly disabled is a prognosis, and it depends on how severe it is, whether it is progressing, whether anything else is present, and what the genetic testing shows. The same word can sit at either end of a very wide range.

So the questions to ask, in these words, are:

• Is this an isolated finding, or is there anything else?
• How confident are you in this diagnosis — and what would make you more confident?
• What is the range of outcomes for a baby with exactly this? The best case and the worst case, not the average.
• Is it correctable, treatable but not correctable, or neither?
• What would the first year of this child's life look like — surgeries, hospital stays, feeding, breathing?
• What would you expect at five years? At twenty?
• What more will we know if we wait three weeks and scan again?
• Where would this baby need to be born, and is that unit available to us?

If the answer to several of these is "we don't know yet", that is honest, and it is also a reason to keep the assessment going rather than to decide now.

The three broad groups

Every specific condition is its own conversation, but findings tend to land in one of three places, and it helps to know which one you are in.

What the law in India allows

People are given remarkably inaccurate information about this, often by people who ought to know. The framework is the Medical Termination of Pregnancy Act as amended in 2021, and it sets three tiers.

• Up to 20 weeks — the opinion of one registered medical practitioner is required.
• Between 20 and 24 weeks — two registered medical practitioners must agree, and the pregnancy must fall within one of the categories specified in the rules. Substantial risk of serious foetal abnormality is one of those categories.
• Beyond 24 weeks — no doctor can authorise it. It requires the approval of a State Medical Board, constituted under the Act, and the grounds are limited to substantial foetal abnormality. The Board examines the woman and the reports and records its opinion.

Two practical consequences follow. First, a Medical Board application takes time, and the assessment it rests on takes longer, which is the whole reason to start the week the finding appears. Second — and this is the part nobody says out loud — there is no requirement anywhere in that framework that you use any of it. The law describes what is permitted, not what is expected.

Separately, and worth saying plainly: a scan in India cannot legally tell you the baby's sex, and no reputable centre will. That is a different law, and it is not connected to this.

The decision, if there is one

Some parents in this situation know within an hour what they want to do. Others take three weeks and change their minds twice. Both are normal.

What you are entitled to, from anybody involved in your care, is this: complete and accurate information, delivered without spin in either direction; time to think, to get a second opinion, and to talk to people you trust; and a doctor who will look after you properly whichever way you go. What you should be alert to is anyone — doctor, family member, well-meaning friend — pushing you towards a decision. Including in the direction of continuing.

A few things worth knowing as you think:

• You can ask for a second opinion at another fetal medicine unit. Nobody good is offended by this.
• You can ask to speak to a paediatric surgeon, a paediatric cardiologist or a neonatologist before the baby is born, and this is often the most useful conversation of the lot, because they can tell you what these children actually look like at three years old.
• Parent support groups for specific conditions exist in India and are worth finding — a family who is five years into it will tell you things no clinician can.
• You and your partner may not arrive at the same place at the same speed. That is extremely common and it is not a betrayal.
• Whatever you decide, grief is likely, and it is not conditional on the decision. Ending a wanted pregnancy is a bereavement. So is continuing one that has changed shape.

For completeness: we provide MTP services within what the law allows, and we will discuss any of this with you honestly. We will also tell you plainly when something falls outside what can be done at a clinic and needs a hospital and a Board.

If the pregnancy continues

This is where a diagnosis made before birth earns its keep, and it is the reason to do the testing even when your mind is made up.

• Place of birth becomes a medical decision. A baby with a duct-dependent heart lesion needs to be born in a hospital with a paediatric cardiac service on site, not transferred to one at six hours old. A baby with an abdominal wall defect needs paediatric surgery in the building.
• The team is assembled in advance. Neonatologist, the relevant paediatric specialist, sometimes a paediatric surgeon, present at the delivery rather than called afterwards.
• Mode and timing of delivery are planned — many of these babies are delivered vaginally and many are not, and it depends entirely on the condition. It is decided in advance, with a reason.
• Extra monitoring through the rest of the pregnancy. Growth scans, fluid assessment, and for some conditions serial measurements to see whether anything is progressing.
• You are prepared. Nobody wants to be told the first thing about their baby's condition in a delivery room. Parents who knew consistently describe the birth itself as better than parents who did not.
• Where survival is not expected, planning still helps — where to deliver, who you want present, whether you want to hold the baby, photographs, and what comfort care will look like. These are terrible things to have to think about and they are far worse to face unprepared.

Why did this happen?

Almost always, the honest answer is that nobody knows. Most congenital disorders have no identifiable cause. They are not a punishment, they are not the result of something you ate, lifted, or felt, and they are not caused by a fight you had in the second month.

The World Health Organization's figures give the scale: congenital disorders are estimated to cause around 240,000 newborn deaths worldwide within the first 28 days of life, and a further 170,000 deaths between one month and five years of age. Around nine in ten children born with a serious congenital disorder are born in low- and middle-income countries. The commonest severe ones are heart defects, neural tube defects and Down syndrome.

Where causes are identifiable, they include a genetic or chromosomal change; folate deficiency around conception; certain infections in early pregnancy, rubella above all; poorly controlled diabetes before and during the first trimester; alcohol; iodine deficiency; some medicines; and consanguinity, where parents are closely related — which nearly doubles the risk of neonatal and childhood death and of intellectual disability. None of these is a reason to interrogate yourself now. They matter for what comes next.

What this means for a future pregnancy

Ask for the recurrence risk before you leave the fetal medicine unit, because it varies enormously and general reassurance is worth nothing here.

• A sporadic chromosomal problem usually carries a low recurrence risk, though it is not zero and it rises with maternal age.
• A single-gene condition inherited from both parents can carry a one-in-four risk in every future pregnancy. This is why the genetic diagnosis matters even when the outcome of this pregnancy is already decided.
• A neural tube defect carries a meaningfully raised recurrence risk that is substantially reduced by high-dose folic acid started well before the next conception — a much higher dose than the standard one, prescribed for the purpose.
• Where diabetes was poorly controlled, getting sugars to target before the next conception is one of the few genuinely powerful interventions in this whole field.
• Where the cause is unknown, the risk is usually only slightly above background — but you deserve to hear a number rather than a shrug.

A preconception consultation before trying again is the single most useful appointment you will have: folic acid at the right dose started early enough, rubella immunity checked, sugars and thyroid sorted, medicines reviewed, and a plan for early scanning next time.

What happens at the clinic

Consultation, going through the reports with you properly and in plain language, the rest of your antenatal care, blood tests, and coordination of the referrals all happen at the clinic. Scans — including the anomaly scan, targeted fetal medicine scans and fetal echocardiography — are arranged by referral, as are invasive tests and fetal MRI, since we do not run imaging here. Deliveries and any surgery take place at hospital.

If you are holding a report with a word on it that you have already searched three times tonight, bring it in. Bring the films if you have them, and bring whoever you want with you. The first job is to work out what you are actually dealing with.