VP - Prekoncepční, preimplantační a prenatální diagnostika, prevence a léčba těžkých poruch prenatálního vývoje v rámci fetální medicíny s využitím nejnovějších metod molekulární genetiky a kmenových buněk

Sylabus

Participation in this course is recommended after completing the optional course RMRG, which is followed by the content.

Goal:

Overwiew of present possibilities and perspectives of preconception, preimplantation, prenatal diagnostic, prevention and treatement of severe disorders of prenatal development within fetal medicine with the implementation of recent methods of ultrasound, MRI, molecular genetic, stem cells, internal and surgical therapy and transplantation,

Lecture topics:

Ethical and legal bases of early prenatal and postnatal genetic diagnosis, screening and therapy.

Genetic base of cell and tissue differentiation.

Genetic and epigenetic risks of severe disorders of the prenatal /postnatal development.

ROS, disorders of genetic imprinting, regulation activity of retrotransposones, DNA instability, induction of new mutations, chromosome aberrations, risk of severe disorders of early prenatal development of foetus/gravidity and postnatal somatic and psychical development.

Antioxydant therapy, vitamins, microelements, folic acid in prevention of hypoxya and ROS deleterious effect of gene methylation for prenatal /postnatal development.

Pathogenesis of aneuploidy, structural chromosome aberrations, risk of congenital anomalies, abortion and dysfertility.

Thrombophilic mutations . CFTR gene and other mutations with genetic risk for normal a fetal and pregnancy develpment and postnatal somatic and psychical develpoment of delivered children.

Specialised prenatal genetic counselling.

Preconception prevention and expanded preconception screening for targeted preimplantation and prenatal diagnosis, prevention and therapy.

Newest methods of molecular genetic and molecular cytogenetic examination for rapid, exact preimplantation/prenatal prevention of monogenic diseases, chromosomal congenital anomalies, risk of advanced maternal age, abortion, repeated IVF failures.

Combined biochemical and ultrasound screening in Ist, IInd and third trimesters with multiple biomarkers to detect pregnancies with increased risk of chromosome aberrations, preeclampsia, IUGR, advanced maternal age, severe congenital anomalies, malformation syndromes and developmental disorders.

Recent methods of ultrasound, MRI in prenatal screening and diagnosis of severe prenatal disorders.

Noninvasive prenatal testing of fetal chromosomal anomalies and monogenic disorders by examination of fetal placental DNA in maternal blood.

Specialised clinical care for genetic risk pregnancies.

Invasive methods of prenatal diagnosis, their clinical risks.

Preimplantation diagnosis of polar bodies, blastomeres, trophoectoderm to select embryos without pathologic mutations in monogenic diseases or without chromosomal aberrations to prevent abortion, malfornations, risk of abortion, repeated IVF failures and of advanced maternal age.

Present possibilities of fetal surgery treatement of severe malformations or fetal development disorders.

Cardiogenetic examination by NGS methods for prenatal and postnatal prevention, diagnosis and therapy of severe development disorders of cardiovascular system.

Prenatal diagosis of unoperable cardiovascular malformations corrected by postnatal heart transplantation.

Fetal treatement of severe metabolic disorders by targeted medication in pregnant women.

Prevention of severe metabolic disorders due to mutations of mtDNA by exchange of maternal oocyte cytoplasm.

Treatement of fatal untreatable children diseases by umbilical cord stem cells transplantation from delivered sib, conceived by IVF after preimplantation selection of embryo with identical HLA haplotype and without pathological mutation.

Targeted prenatal/postnatal therapy of severe monogenic diseases by edition of pathogenic mutation by CRISP-Cas9 molecular genetic method.

Perspectives of gene, stem celles or induced stem cells therapy.

Posisble implementation of nutrigenetics and of intestinal microbiome in preconception, prenatal and postnatal prevention.

Responsible person: Doc. MUDr. Milan Macek, CSc.