Non-invasive prenatal screening analysis (NIPT)

Early genetic diagnosis of trisomy foetuses

The trisomies of chromosomes 13 (Patau syndrome), 18 (Edwards syndrome) and 21 (Down syndrome) are produced by an extra copy of chromosomes 13, 18 and 21 respectively. All of them are relatively frequent trisomies and highly compatible with a practically normal development of the foetus.

Down syndrome is a genetic pathology produced in the human population in 1 of approximately every 700 births. The disorder increases with the maternal age of the pregnancy, exponentially from 35 years of age. Patients suffering from Down syndrome represent peculiar facial features, the majority of them have alterations in their intellectual development and it can be associated to multiple organ complications. Similarly, Patau and Edwards syndromes are clinically serious syndromes closely related to perinatal death.

During the pregnancy, the conventional screening techniques are based on comparing the result of ultrasounds with statistical data (such as the maternal age, life habits, etc.) offering the probability that the foetus could possess one of these alternations, but with a high level of error, mainly “false positives”. For this reason, based on this data, when the possibility of a foetal alteration appears, it is recommended to carry out an amniocentesis diagnosis, taking the risks that this involves.

The Bioarray analysis of non-invasive prenatal screening enables us to assign an estimation of the risk that the foetus will suffer Down syndrome, as well as Patau and Edwards syndrome, as it detects the foetal DNA in the maternal blood. This technique involves no risk and enables us to offer an index of “false positives” much less than the conventional screening techniques.

NON-invasive prenatal screening analysis

The Bioarray non-invasive prenatal screening analysis allows us to detect molecules of the foetal DNA in the maternal blood. A conventional blood test from the mother is simply needed from week 10. Thank to this, it is possible to detect the presence or absence of foetal trisomies in chromosomes 13, 18 ad 21, as well as in the sexual chromosomes. This screening technique is carried out in a completely safe and efficient manner thanks to the combination of the most innovative next-generation sequencing technology and the latest bioinformatic techniques.

Advantages of Bioarray®

Bioarray’s® NEW PRENATAL SCREENING ANALYSIS identifies and excludes the presence of the trisomy of chromosome 21 in high-risk pregnancies, avoiding invasive methods in 98% of cases. 

tabla trisomias

Requirements for the analysis

In order to be able to take the test, it is necessary to be at least 10 weeks pregnant, confirmed by ultrasound. The test is also valid for twin pregnancies.

Signed consent is required from the pregnant woman and the doctor, as well as a 5-10 ml maternal peripheral blood sample.

Ask the laboratory on how to send your sample.

Conditions to send samples.

  • Contact Bioarray 24 hours before in order to arrange a collection time.
  • Keep the sample refrigerated at 4ºC
  • Results in 20 days.

Technological process

  1. EXTRACT FOETAL DNA FRAGMENTS IN MATERNAL PLASMA.
  2. NEXT-GENERATION SEQUENCING AND ALIGNMENT OF CIRCULATING DNA IN ISOLATED PLASMA.
  3. MAPPING OF UNIQUE SEQUENCES IN EACH CHROMOSOME.
  4. STATISTICAL ANALYSIS ASSIGNING THE RISK OF THE FOETUS OF SUFFERING A TRISOMY. 

Download brochure: Non Invasive Prenatal Screening