Prenatal diagnosis

Prenatal diagnosis


Classical cytogenetic study: it allows us to disqualify all types of numerical and structural abnormalities. We have the result after 12-13 days.

Molecular karyotype: as a complement of the classical karyotype analyses by microarrays 150 regions of the DNA responsible for different syndromes : Di George, Cri-du-chat, Cornelia de Lange, Dandy-Walker, Down syndrome critical region, Kallmann, Marfan, Neurofibromatosis I,II ... . we have the results at the same time as the cytogenetic study.

Fast screening of aneuploidy:
QF-PCR related to the karyotype analysis allows us to know in 24 hours the most common numerical abnormalities. The study includes the 5 chromosomes 21, 18, 13, X, Y.

Any of these studies can be performed on a sample of amniotic fluid, chorion biopsy, peripheral blood or curettage.

PRENATAL DIAGNOSIS IN MATERNAL BLOOD: This test estimates in a NON-INVASIVE MANNER the risk of chromosomic anomalies with great fiability. It is the most complete test examining all chromosomes and detecting, among others : Trisomy 21 (s. Down), trisomy 18 (s. Edwards), trisomy 13 (s. Patau), sexual chromosome anomalies,microdelections and big microduplications, chromosomal mosaicism depending on the fetal ADN percentage in maternal blood. The screening is possible by massive sequencing techniques after the 12th week of gestation and the result is given in 10 days.

DNA CARD or IDENTITY GENETICS: In cases of genetic identification of a person a comparison technique to parents or close relatives is used. This solution is not valid in situations such as adoption, donation of gametes or embryos or impossibility of comparison to progenitors. Genetic fingerprinting allows to identify an individual with his or her DNA that stays unchanged during lifetime and which is present in all the cells of the individual. We will only need a sample of buccal smear the result of which is delivered within 20 days.

Indications:

  • Ultrasound scan anomalies.
  • Family history of anomalies.
  • Altered biochemical screening.
  • Repeated miscarriages.
  • Advanced maternal age.
  • Anxiety.