Cytogenetics and Molecular Cytogenetics

Prenatal Diagnosis

Chromosome Analysis: Chorionic Villi, Amniotic Fluid Fetal Blood (Umbilical Blood Sampling/PUBS)
Screening for Common Microdeletion Syndromes on Chorionic Villi
Rapid Prenatal Aneuploidy Testing (QF-PCR or FISH) on Amniotic Fluid
Alpha-Fetoprotein (AFP-AF), Amniotic Fluid
FISH analysis in case of prenatally suspected microdeletion or –duplication syndrome or mosaicism for aneuploidies in prenatal specimens
Preimplantation Genetic Diagnosis: Polar Body analysis for common aneuploidies (FISH)

Postnatal Diagnosis

Chromosome Analysis or FISH: Blood, Skin, Placental Tissues (miscarriage)

Reasons for Referral:

• abnormal newborns
• patients with unexplained learning difficulties
• dysmorphic children
• male or femal infertility
• recurrent miscarriage
• parents of children with a known chromosome abnormality
• follow-up from prenatal diagnosis
• family follow-up
• screening of patients and donors for IVF.