First-trimester ultrasound: what does an increased-risk result mean?

Receiving a "high-risk" result during a first-trimester ultrasound can undoubtedly be one of the most challenging moments of prenatal care. It's a term that scares people, generates doubts, and often ends up bringing more anxiety than clarity. But that's precisely why I decided to write this text. Because before anything else, it's important to understand what this result actually means.

First of all: screening is not diagnosis.

The first-trimester ultrasound is, above all, an examination of tracking. In other words: he It doesn't give a diagnosis.. He estimates probabilities based on very sensitive measurements, obtained within a specific window of gestation.

If there are changes to any of these measures — such as nuchal translucency, the nasal bone, the ductus venosus flow or a tricuspid valve regurgitation The system calculates a higher risk of certain genetic syndromes.

But increased risk doesn't mean certainty. It means we need to investigate further.

What could interfere with the exam?

That's a valid question, and one I hear frequently in my office.

Some factors can indeed make it difficult to conduct the exam ideally. For example:

Unfavorable fetal position
Excessive fetal movement
Very full maternal bladder
Presence of intestinal gas
The gestational window itself is very much at the limit.

These factors may require more time to complete, greater technical experience from the professional, and, in some cases, need to repeat the exam at a more appropriate time.

In my practice, it's common to repeat an ultrasound if conditions don't allow for reliable image acquisition. This is part of good practice.

What if the risk is considered too high?

When the calculation indicates a increased risk, The course of action depends on the level of risk and the characteristics of the case.

To intermediate risks (between 1:50 and 1:250), It is recommended to do the NIPT., a blood test that analyzes circulating cell-free fetal DNA and can greatly reduce uncertainty, with a very high negative predictive value.

To very high risks (above 1:50), especially with a increased nuchal translucency (above 3.5mm), It is recommended to consider diagnostic tests., like amniocentesis or chorionic villus sampling — because there is a greater chance of atypical genetic syndromes or diseases that can only be detected with a complete karyotype, array, or exome.

Furthermore, it is worth remembering that the NIPT is not a substitute for invasive testing. In these more serious cases, it only analyzes a limited group of syndromes.

Talking about risk is delicate but necessary.

Communicating a result that can change the course of a pregnancy is not simple. There is an ethical, technical, and human consideration in every word we use.

To say that a test showed an increased risk. It's not about being pessimistic.. It's about being transparent. It's about acknowledging the possibility and, at the same time, indicating the next steps with clarity and serenity.

It's common for parents to want to hear: "But doctor, is there a chance everything is alright?" And yes, often there is. Most cases of increased risk end with positive outcomes. But it's also our responsibility. do not minimize, do not omit and offer the necessary support (including emotional support) to cope with the period of uncertainty.

The role of fetal medicine is to guide, not to pronounce judgment.

As a specialist in fetal medicine, I am here to guide the couple based on science, clinical experience, and respectful listening. We know that every word matters. We know that waiting for a new test can be distressing.

And that is precisely why we strive to provide this support with clarity and care.

If you are experiencing uncertainty after your first-trimester ultrasound, seek out a professional who will listen to you, explain things to you, and walk alongside you.

Because the test can indicate a risk.

But we are the ones who help to face this risk. Together.

Tags: welcoming, amniocentesis, diagnosis, gestation, Fetal Medicine, NIPT, prenatal, first quarter, increased risk, nuchal translucency, Ultrasound

Dr. Andre Miyague

mãos de gestante segurando uma imagem de ultrassom

Tetralogy of Fallot: what does this diagnosis mean during pregnancy?

Receiving the news that there is a heart defect in the baby during pregnancy often generates many doubts and insecurities. Among the congenital heart defects that can be identified prenatally is... Fallot's Tetralogy, a heart condition that is relatively well-known in medicine, but poorly understood by the general public.

In this article, I explain What is Tetralogy of Fallot, how can it be identified during pregnancy, and why is prenatal diagnosis so important for planning the baby's care?.

The goal is to transform a complex medical term into understandable information, without alarmism and always based on evidence.

Agenesis of the Corpus Callosum: What does this diagnosis mean during pregnancy?

Receiving a different diagnosis during pregnancy often generates many doubts, insecurities, and, naturally, fear. When the term involved is agenesis of the corpus callosum, However, this feeling can be even more intense, after all, we are talking about the development of the baby's brain.

This article was written to explain, in a way clear, responsible and evidence-based, What is agenesis of the corpus callosum, how can it be identified during pregnancy, what are the possible outcomes, and, most importantly, What is the role of fetal medicine in this context?.

If you have received this diagnosis or are investigating this possibility, know this from the start: Quality information helps transform anxiety into care and planning..

Obstetra e médico fetal analisam o ultrassom em conjunto para oferecer cuidado integral à gestante e ao bebê.

The relationship between the Obstetrician and the Fetal Medicine specialist: two areas that complement each other in caring for the same life.

When a pregnant woman arrives at the doctor's office for the first time, she brings with her a mixture of joy, expectation, and worry. And it is precisely at this beginning that a common question arises: What is the difference between an obstetrician and a doctor specializing in fetal medicine?

They both participate in the same pregnancy, care for the same baby, and walk together, but each with a very specific role.

It is about this partnership that I want to talk here. To explain how we complement each other, why we work side by side, and how this relationship ensures greater safety, diagnostic accuracy, and peace of mind for the family.

Ultrassom ilustrado de bebê no útero, representando o diagnóstico e acompanhamento de tumores fetais com esperança e cuidado.

Fetal tumors: when diagnosis is not a death sentence.

Receiving the news of a "tumor in the baby" while still in the womb naturally evokes fear and insecurity. It's a powerful word, loaded with meaning and often immediately associated with something malignant.

But it's not always like that.
In fetal medicine, many tumors diagnosed during pregnancy are benign and can be safely monitored until birth.

In this article, I want to clearly explain what fetal tumors are, where they usually appear, what risks are involved, and, most importantly, how we can best care for them with responsibility, planning, and hope.