Home

Print

Prenatal Genetic Diagnostic

It is estimated that approximately 4% of newly borns have some kind of congenital defects. The most common risk factors, when having a child with these characteristics, are family health antecedents, to be over a certain age or having already had a child with an anomaly.

LabGenetics is specialized in Prenatal Genetic Diagnostic and offers the possibility of analyzing DNA from fetal cells, using techniques based on the PCR technology which are able to detect, in the fastest possible way, eventual congenital defects in the fetus during pregnancy.

Quick prenatal diagnostic of chromosomal aberration using qf-pcr

Characteristics of the service

• Fetal DNA research, analyzing STRs, using Quantitative Fluorescent PCR (QF-PCR) using a DNA sequencer (ABI® 310 Genetic Analyzer)
• Detection in only 1 test of chromosomic numerical disorder or more frequent aneuploidies in humans:
  • Chromosome 21: Down Syndrome (Trisomy)
  • Chromosome 18: Edwards Syndrome (Trisomy)
  • Chromosome 13: Patau Syndrome (Trisomy)
  • Sexual Chromosomes X and Y:
    • Turner Syndrome: X0 (monosomy)
    • Klinefelter Syndrome: XXY
    • Other aneuploidies: XXX; XYY
• Detects 70 to 80% of chromosomal aberrations that are the cause of congenital defects (99.8-99.9% in low risk pregnancy).
• Maximum reliability with a small quantity sample:
  • Less than 1 ml of the amniotic liquid (no previous cell culture is needed)
  • Only 1 fetal drop of blood from the umbilical cord
• Quality Guarantee:
  • Laboratory member of Spanish Association of Prenatal Diagnostic (AEDP)
  • In process of accreditation by ENAC according to the ISO 15189 standards
• Results in 24 hours

Samples capable of being analyzed

• Amniotic liquid (without previous culture) obtained using amniocentesis
• Chorionic villus obtained using transcervical biopsy or abdominal punction
• Fetal blood from umbilical cord obtained using cordocentesis
• Abortion remains

The advantages of the QF-PCR technique against FISH

• Smaller fetal sample volume needed:
  • Fundamental in early amniocentesis (beginning of first 3 months)
  • Reduction of abortion risk during amniocentesis
• Increased sensitivity of the analysis
• Maximum reliability, accuracy, reproducibility and consistency in the results.
• Simplification and automatization of diagnostic procedures:
  • Faster
  • Lower cost

Cytogenetic Diagnostic

LabGenetics also offers a cytogenetic diagnostic service, in which the so-called complete cariotype, is able to analyze the chromosome number and the structure to detect possible anomalies, either numeric (aneuploidies: Trisomy, monosomy, etc) or structural (insertions, deletions and translocation).

In order to be able to do this research it is necessary to have a previous cell culture carried out, and for this reason the response time can vary between 2-3 weeks, depending on the kind of starting sample. In LabGenetics carry out the following cytogenetic researches:

• Cariotype in Amniotic liquid
• Cariotype in Chorionic villus
• Cariotype in fetal blood
• Cariotype in Abortion remains
• Cariotype in peripheral blood
• Cariotype in cultured fibroblasts (skin and others)

Hereditary deseases prenatal diagnostic

LabGenetics also offers the possibility of having prenatal genetic screening of hereditary diseases done when the parents are known carriers, diagnosed or sick ones.

LabGenetics analyzes DNA of fetal cells using techniques based on the PCR technology to identify the alterations (mutations) in the DNA sequences which are related with a disease or the increment of risk of developing a disease.

Our laboratory is specialized in diagnosis of a good number of hereditary diseases the most repercussions and/or worse prognosis. For this reason, LabGenetics uses the most advanced technology combined with various different techniques:

• PCR and fluorescent detection in a DNA sequencer
• Enlarge and direct sequence of involved genes
• Detection of multiple mutations using SNaPshot technology
• Detection of punctual mutations using ARMS technology
• Analysis of Microsatellite Instability using TP-PCR technology

You can check our genetic disorders catalog here