PRENATAL-CODE® is a prenatal genetic screening test that analyzes fragments of placental DNA present in the mother's blood. The test assesses the risk of the fetus having different chromosomal abnormalities.

What is the Prenatal Code?

It is a genetic screening test performed on patients after the 10th week of pregnancy with the aim of detecting, at an early stage, aneuploidies (partial or complete gains or losses of chromosomes) in the developing fetus.

There are two types: STANDARD and GENOMIC. Both types assess the risk of fetal trisomy of chromosomes 21 (Down syndrome), 18 (Edwards syndrome), 13 (Patau syndrome), and the sex pair (XY), in search of numerical abnormalities that cause Turner syndrome (monosomy X),Klinefelter (XXY), Triple X (XXX), and Jacobs (XYY) syndromes.

In either case, the patient can choose whether or not to know the sex of the fetus. However, in the presence of sex pair aneuploidies, this information will be disclosed.

How is this study conducted?

To perform the fetal DNA test, only 10 ml of peripheral blood from the mother is required. At our Medical Center, blood sampling will be performed by professionals authorized by BIOCÓDICES SA.

The blood sample will be sent to BIOCÓDICES SA via authorized transport to be processed by those responsible for the genomics and bioinformatics laboratories.

The procedure consists of:

  • extraction and amplification of circulating DNA
  • genomic library formation
  • NGS sequencing,
  • bioinformatics analysis
  • report generation.

If the biological sample is not optimal for the study, a new sample or clinical data from the patient may be required. Any remaining biological material (blood and/or DNA) will be stored until the report is delivered. Any leftover material from the genomic library will be stored for up to one year after the study request. BIOCÓDICES SA will not use this material for any other test without the patient's explicit consent.

What kind of results are obtained?

PRENATAL-CODE® can give three different types of results:

POSITIVE: There is a high risk of aneuploidy in the fetus. This result could be a false positive. In these cases, the abnormality must be confirmed by an invasive prenatal diagnostic test (amniocentesis or chorionic villus sampling). Consultation with a clinical genetics specialist is recommended for interpretation in these cases.

NEGATIVE: This means that there is a very low risk of aneuploidies and/or variants of

microdeletions/microduplications in the fetus. Although the test has very high sensitivity, a negative result does not completely rule out the possibility of a chromosomal or genetic abnormality in the fetus.

NOT INFORMATIVE: In a very small percentage of cases (less than 0.1%), it is not possible to obtain a clear result from the test. This may occur because the sample does not contain sufficient fetal DNA (% fetal fraction), due to high maternal weight or early gestational age, among other causes. In this case, a new blood sample may be requested, or an invasive prenatal test may be performed. In some people, a clear result may not be obtained even after two or more blood draws. In these rare cases, a results report cannot be issued. Some of the reasons why a new blood sample may be required include, but are not limited to, the following cases:

  • Discrepancies in the correct gestational age (less than 10 weeks),
  • High Body Mass Index (high maternal weight)
  • Treatment with heparin for thrombophilia or other causes
  • Mothers who are "slow DNA releasers,"
  • Statistical values outside the detection limits (gray areas).

Are there any risks involved in conducting this study?

As it is a non-invasive test, PRENATAL-CODE® poses no risk to the developing fetus. The test only requires a 10 mL sample of the mother's peripheral blood, which carries rare risks such as dizziness, bruising, multiple punctures, or fainting, as with any other laboratory test requiring venipuncture.

No technique is capable of identifying all genetic or epigenetic alterations associated with a given pathology. Therefore, each technology has specific indications and limitations that will be reflected in the results report. There are situations and technical limitations that prevent reliable results from being obtained from this test.

PRENATAL-CODE® is a screening test and is not recommended as a diagnostic test in the presence of fetal ultrasound abnormalities. It is a genetic test developed by BIOCÓDICES SA based on NIFTY®-BGI. It is the most widely used non-invasive prenatal screening test in the world, with more than 8.5 million tests performed on all continents. NIFTY® is CAP (College of American Pathologists) accredited, CLIA (Clinical Laboratory Improvement Amendments) certified in the US, and CE-IVD marked in the EEC.

Confidentiality of Results

The results will be sent to the requesting physician/patient. BIOCÓDICES SA will store these results for prospective studies for statistical purposes, previously anonymized, without the possibility of linking the patient to their results. The processing of personal data is carried out in compliance with the regulations of Law 25,326 on Personal Data Protection. The databases of BIOCÓDICES SA are registered with the National Directorate for Personal Data Protection – Agency for Access to Public Information.