PRENATAL DIAGNOSIS CENTER

The Laboratory of Genetics and Molecular Diagnostics performs prenatal and postnatal karyotyping,

Department of Gynecology and Obstetrics
Laboratory of Genetics

Prenatal Diagnosis Center has been created to provide all types of modern services in the field of fetal medicine and prenatal control.
Our extensive experience allow us to understand the patients’ needs and to offer the best care for them.

Specialists in high-risk pregnancies
The most sophisticated ultrasound devices
Laboratory of Genetics – complete screening and diagnostic genetic testing

Team approach for a safe and complete care prior and after the pregnancy.

Laboratory of Genetics

The Laboratory of Genetics offers full access to state-of-the-art genetic screening and diagnostic testing

Prenatal testing

Double / Triple Screen Test – a powerful algorithm that uses information from multiple healthcare sources and obtains a detailed result enabling the doctor to access information necessary for pregnancy assessment.

NIPT (Non-Invasive Prenatal Testing) – a method for determining whether there is a risk for certain genetic abnormalities in the fetus. This test examines small fragments of cell-free DNA (cfDNA) circulating in the mother’s blood.

Panorama Natera – NIPT for accurate determination of cfDNA origin by using mononucleotide polymorphisms (SNPs). This method more accurately determines the risk of aneuploidy, paricularly in twin pregnancies, as well as triploidy.

Prenatal invasive procedures – it may be necessary to perform these procedures during pregnancy in order to collect material for diagnostic genetic testing of the fetus (chorionic villus biopsy, placentocentesis, amniocentesis, cordocentesis)

• Karyotyping – analysis of 46 chromosomes, detection of aneuploidy, triploidy, translocations, inversions, major deletions and duplications, mosaicisms
• Molecular karyotyping (array analyses)
• FISH analyses
• Analysis of known mutations – cystic fibrosis, spinal muscular atrophy, muscular dystrophy and many others
• Gene sequencing of a single gene for detecting many conditions and diseases
• Gene panels – multiple gene sequencing that may be involved in various diseases development
• WES (Whole Exome Sequencing) – whole exome sequencing
• WGS (Whole Genome Sequencing) – whole genome sequencing

Postnatal testing

Genetic testing in children and adults

• Karyotyping – analysis of 46 chromosomes, detection of aneuploidy, triploidy, translocations, inversions, major deletions and duplications, mosaicisms
• Molecular karyotyping (array analyses)
• FISH analyses
• Analysis of known mutations – cystic fibrosis, spinal muscular atrophy, muscular dystrophy and many others
• Carrier screening (cystic fibrosis, spinal muscular atrophy, muscular dystrophy, fragile X chromosome, reproductive problems, miscarriages, etc.)
• Gene sequencing of a single gene for detecting many conditions and diseases
• Gene panels – multiple gene sequencing that may be involved in various diseases development
• WES (whole exome sequencing) – whole exome sequencing
• WGS (whole genome sequencing) – whole genome sequencing

For more information send an email to:

genetics@acibademsistina.mk