NIPT Tests Are Not All the Same.
How an Expectant Mother Can Make an Informed and Thoughtful Choice
Pregnancy is a special time. It is a period of anticipation and joy, but often also a time when questions and fears arise for which no one is ever fully prepared.
Most expectant mothers wish for one thing above all: to know that their baby is well. This wish is natural and understandable.
Modern medicine offers several ways to support this reassurance.
One of them is non-invasive prenatal testing (NIPT) – a blood test from the mother that assesses the risk of certain chromosomal conditions in the fetus early in pregnancy.
The test is safe for the fetus and provides many families with valuable peace of mind.
At the same time, the NIPT landscape has become increasingly complex.
There are many different tests, with different names and descriptions, and their promises may initially seem similar.
For an expectant mother, it can be difficult to understand how these tests actually differ and how to make a choice that supports a calm and confident pregnancy rather than increasing anxiety.
It is important to note that the differences lie not in the test's safety but in how the examination is structured, when it is performed, and how the results are interpreted.
Screening Is Not a Diagnosis
NIPT is a screening test, not a diagnostic test. It does not provide a definitive answer, but assesses risk – whether it is low or increased.
An increased risk does not automatically mean that a condition is present, and a low risk does not exclude all possible developmental disorders.
The purpose of screening is to identify pregnancies in which it is reasonable to consider additional diagnostic tests, while allowing the remaining pregnancies to proceed under routine follow-up.
If this distinction is not clearly explained, the test result may raise more concern than it clarifies.
Does Testing for More Conditions Always Mean a Better Test?
Many NIPT tests emphasize that they analyze a broad range of chromosomal conditions and rare genetic variants.
At first glance, this seems logical – the more that is tested, the more reliable the result should be.
In clinical practice, however, this is not always the case.
The rarer a condition is, the more difficult it becomes to reliably assess the accuracy of the test, and the higher the risk of false-positive results – situations in which the test suggests a possible problem that is not confirmed by further investigations.
For an expectant mother, this can mean unexpected anxiety and difficult decisions.
One of the aims of screening is to reduce the need for invasive diagnostic procedures.
If the number of false-positive results increases, the outcome may be the opposite.
Therefore, the best test is not always the one that “finds the most,” but rather the one whose selection of analyzed conditions is clearly justified and supported by sufficient scientific and clinical experience.
Transparency is equally important – it should be clear for which findings the test performance has been thoroughly studied and for which areas scientific evidence remains limited.
Ultrasound Before NIPT – Why Timing Matters
Many expectant mothers have already undergone an ultrasound examination early in pregnancy, often at 6–7 weeks of gestation.
The purpose of this examination is very specific: to confirm that the pregnancy is located in the uterus, to assess the presence of fetal cardiac activity, and to rule out conditions such as ectopic or multiple pregnancy.
This is an important and necessary examination.
However, this examination is not the same as the ultrasound performed immediately before NIPT.
At 6–7 weeks of pregnancy, the embryo is only a few millimeters in size, and most organ systems have not yet developed.
At this stage, it is not possible to assess early structural anomalies.
By around the 10th week of pregnancy, the fetus has completed the embryonic developmental period, and all major organ systems are present.
An ultrasound performed at this stage allows for a much more thorough assessment of early fetal development and helps determine whether non-invasive prenatal testing is an appropriate next step for a particular pregnancy.
It is also important to recognize that, early in pregnancy, fetal development may cease even after cardiac activity has been observed.
Therefore, an ultrasound performed immediately before NIPT is also essential to confirm fetal viability.
Pre-NIPT ultrasound is thus not merely confirmation of pregnancy, but a targeted examination aimed at assessing fetal development, excluding situations in which NIPT is not indicated, and selecting the most appropriate next step for the individual pregnancy—whether screening, diagnostic testing, or personalized counseling.
Peace of Mind Does Not Come from a List of Diseases
An expectant mother’s sense of security does not come from a long list of diseases or complex genetic terms.
It occurs when examinations are performed in the correct order, results are explained clearly and honestly, and the woman feels that she is not being offered merely one possible test, but an examination recommended specifically for her personal situation and wishes.
The most important question is not:
“How many conditions does this test analyze?”
but rather:
“Is this examination the right next step for my pregnancy at this moment?”
An Informed Choice Is the Best Protection
Prenatal screening is a valuable tool when used correctly. It requires an understanding of the test's purpose, awareness of its limitations, and professional counseling.
Not all NIPT tests are the same — and this is not a problem if an expectant mother has sufficient information to make an informed and thoughtful choice. In medicine, more is not always better.
Often, what is best is what is precise, well justified, and understandable.
Most importantly, examinations should not be mere procedures, but part of a carefully considered whole, in which each step supports the next decision and helps provide the best possible care for the expectant mother and her baby.
Dr Marek Šois, gynaecologist
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