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Prenatal tests

prenatal tests nfz

Prenatal tests

The purpose of prenatal testing is to determine the likelihood of a chromosomal defect. The tests can be carried out by any pregnant woman.

Indications for prenatal tests

  • Maternal age over 35 (increased risk of having a baby with chromosomal trisomy, including Down syndrome, Edwards syndrome)
  • Birth of a child with a chromosomal abnormality in a previous pregnancy
  • At least one parent is a carrier of a chromosome aberration
  • One of the parents is a carrier of a monogenic recessive disorder (e.g. presence of a mutation in the CFTR gene, previous birth of a child with cystic fibrosis)
  • Presence of an autosomal dominant disease in the family (e.g. in one parent, sibling, or parent's sibling, e.g. achondroplasia)
  • Abnormal screening test results (PAPP-A) in a previous pregnancy
  • Ultrasound findings indicating abnormalities (e.g. abnormal nuchal fold, bladder cyst, hydrocephalus, kidney defects)
  • High risk of X-linked disease or metabolic errors (e.g. finding of maternal X-linked fragile X syndrome carrier in molecular tests)

PRINCIPAL indications for prenatal tests

  • Risk of CUN defect (previous child with neural tube defects)
  • Two or more spontaneous miscarriages (no cytogenetic testing available in both spouses)
  • Fetal sex determination in cases of increased risk of sex-linked recessive (X chromosome) disease
  • Patient's mental state (mother's anxiety)
  • Insulin-dependent diabetes mellitus in a pregnant woman
  • Phenylketonuria in a pregnant woman
SANCO studies

The SANCO test is a non-invasive prenatal test that assesses the risk of trisomy by analysing extracellular DNA from maternal blood....

NeoBon studies

The test can be carried out in women who are at least 10 weeks pregnant, both singleton and twin pregnancies, and also in the case of in vitro fertilisation...

FMF research - private

As part of the Prenatal Screening Programme, non-invasive tests are performed - ultrasound in combination with biochemical...

FMF research - NFZ

As part of the National Health Fund's Prenatal Testing Programme, non-invasive tests are performed - ultrasound in combination with biochemical...

PRISCA studies

The PRISCA-5 prenatal test is performed as a screening test to determine the likelihood of fetal genetic defects...