The Use of Medical Genetics in the Reproductive Medicine
Macek M., Vilímová Š., Potužníková P., Yurov Y.,Vorsanova S., Diblík J., Krebsová A., Machatková M., Koudová M., Alánová R., Matějčková M., Hladíková E., Broučková M., Hüttelová R., Vincenciová R., Paulasová P., Brandjeská M., Uhrová E., Kratěnová A., Sme tanová I., Novotná D., Brandjeská M., Uhrová E., Kratěnová A., Smetanová I., Novotná D., Chudoba D., Kulovaný E., Krutílková V., Hromadníková I., Mardešič T.,Macek M. Jr.
Ústav biologie a lékařské genetiky 2. LF UK a FNM, Praha Gynekologicko-porodnická klinika 2. LF UK a FNM, Praha 2. dětská klinika 2. LF UK a FNM, Praha Sanatorium Pronatal, Praha Molekulárně cytogenetická laboratoř, Ruská akademie věd, Moskva Ústav pediatrie a dětské chirurgie, Moskva
Reproductive genetics (RG) is another new field of medical genetics, integrated with reproductive medicine,
assisted reproduction and developmental genetic. RG is closely linked to the periconceptional prevention, perinato-
logy, ultrasound and biochemical screening in the end of the first and beginning of the second trimesters. RG is based
on the system of specialized genetic counseling, clinical cytogenetics, molecular cytogenetics and molecular genetics
to provide prefertilization, preimplantation and classical prenatal diagnosis in the Ist to IIIrd trimesters. Thus, RG
is part of the fetal medicine and therapy. The six years experience with RG is summarized. A system of the specialized
health care, organized, if possible in one integrated center of RG and reproductive medicine (RM) is presented.
Reproductive medicine provides all necessary clinical gynecological and andrological surveillance, with assisted
reproduction and further obstetrical ultrasound examinations, including nuchal translucency measurements and 2D,
3D ultrasound, echokardiography examinations, if indicated, as well as the invasive method of prenatal diagnosis
and perinatology care. Specialized genetic counseling and cytogenetic analysis, if indicated, should be offered to all
partners with reproductive disorders as well as to oocyte donors. Chromosome anomalies are disclosed in 6% of
men with abnormal sperm analysis as well as in women with severe reproductive disorders. In males with severe oligo, azoospermia, the sperm aneuploidy analysis by molecular cytogenetic methods is recommended. Adviced is
also the molecular genetic detection of Y chromosome microdeletions, which is detected in 9% of our azoospermic
men with deletions in AZFb region. CFTR gene mutations and intron 8 and 10 polymorphism examination is provided
not only in men with obstructive azoospermia (CBAVD), but also if severe oligospermy with less than 1x10
is detected. Molecular genetic analysis of thrombophilic mutations of factor II., V. (Leiden) and MTHFR gene in
unexplained recurrent abortions and in cases with unsuccessful IVF is part of the diagnostic strategy. The population
frequencies of carriers of mutation of factor II. (2.3%), factor V.-Leiden (5.7%) and MTHFR gene (38%) were
determined. The laser biopsy of the first polar body and of blastomeres was introduced for FISH analysis of
chromosome aneuploidies. Quantitative fluorescent PCR (QFPCR) detection is used for testing of the most frequent
delta F508 CFTR gene mutation and the most frequent aneuploidies of chromosome 13, 18, 21, X and Y. QFPCR
was successfully tested for male fetal sex examination from partially purified fetal cells in the maternal blood. The
first trimester ultrasound and biochemical screening is recommended to all successful pregnancies after different
IVF methods. If borderline levels of first trimester biochemical screening of PAPP-A protein and bhCG are detected
without pathological ultrasound findings, classical triple test of biochemical screening in 16th week of gestation is
recommended. If pathological results of ultrasound and biochemical screening are disclosed, invasive prenatal genetic
diagnosis is indicated as well as in pregnancies after ICSL, if there is not any obstetrical contraindication.
reproductive genetics, reproductive medicine, preimplantation prenatal diagnosis, ultrasound and
biochemical screening, CFTR and thrombofilic mutations, Y chromosome microdeletions, genetic counseling.