Genetics
What is a non-invasive prenatal test or cell-free DNA in maternal blood?
It is a genetic screening test, in which blood from the mother is extracted to obtain DNA from the baby to study certain conditions like Down syndrome (trisomy 21), Edwards syndrome (trisomy 18) or Patau Syndrome (trisomy 13); also some microdeletion syndromes can be looked for and the sex of the baby. This can be done from the 10th week of gestation. All pregnant patients can be benefited by doing this test.
Study
TIME OF DELIVERY
STUDIES FOR THE COUPLE
Carrier’s panel
35 working days
Karyotype in peripheral blood/GTG (detection of balanced chromosomal abnormalities)
3 weeks
STUDIES IN FETAL TISSUES
Karyotype conventional (GTG) in miscarriages or umbilical cord
5 weeks
Karyotype conventional in skin (fibroblasts)
5 weeks
Karyotype in amniotic fluid (amniocentesis)
2 ~ 3 weeks
Karyotype in chorionic villous sampling
2 ~ 3 weeks
Karyotype in fetal blood (cordocentesis)
3 weeks
FISH (Fluorescence in situ hybridization) (for fast detection of chromosomal abnormalities 21, 13, 18 and sexual), includes karyotype in amniotic fluid.
3 days
Microarrays of high density of SNPs (molecular karyotype) in amniotic fluid or miscarriage tissue
35 days
NON-INVASIVE PRENATAL SCREENING TESTS
Prenatal 46 (trisomy 21, 18, 13 and sex chromosomes)
10 days
Prenatal 46 + microdeletions (1p36, 4p16.3, 5p12.2, 15q11.2 y 22q11.2)
10 days
Prenatal 46 + microdeletions + trisomies of all chromosomes
10 days
BIOCHEMICAL MARKERS (1st and 2nd trimester)
Duo test + TN (11-13.6 weeks), requires 1st trimester ultrasound of single fetus
10 days
Cuadruple markers (15-20 weeks)
10 days
NEWBORN SCREENING
Newborn screening extended (67 diseases)
10 days
Newborn screening in blood and urine (140 diseases)
10 days
OTHER TESTS
Paternity test (genetic profile for 3 individuals)
10 days
Mitochondrial genome sequencing
10 days
Exome sequencing (6,700 genes)
45 days
Exome sequencing (19,000 genes)
55 days