PRENATAL GENOTYPING OF THE RHD LOCUS BY POLYMERASE CHAIN REACTION IN FETUS AT RISK OF HEMOLYTIC DISEASE
Autori:
Berivoj Mišković, Feodora Stipoljev, Ita Hadžisejdić, Blaženka Grahovac
Sažetak
Sažetak. Suvremeni način zbrinjavanja Rh-aloimunizacije podrazumijeva ranu dijagnozu RhD-statusa ploda i točnu procjenu stupnja fetalne anemije uz minimalnu uporabu invazivnih dijagnostičkih i terapijskih postupaka. Stupanj fetalne anemije može se precizno odrediti s pomoću doplerske tehnike, a dijagnoza fetalnog RhD-genotipa postavlja se analizom stanica plodne vode ili fetalne DNA iz plazme RhD-negativnih majki metodom lančane reakcije polimerazom (PCR). Premda se prenatalna dijagnoza RhD-genotipa iz stanica plodne vode s pomoću metode PCR u razvijenim zemljama rutinski primjenjuje već desetak godina, u Hrvatskoj donedavno nije postojala takva mogućnost. Zbog nekorištenja opisane tehnike donedavno je u Hrvatskoj postojao neadekvatan pristup pacijenticama koji se očitovao u nepotrebnim i nesvrhovitim kontrolama, laboratorijskim testiranjima, amniocentezama i kordocentezama. U ovom radu detaljno opisujemo prvi slučaj prenatalne dijagnoze fetalnog RhD-genotipa analizom DNA izolirane iz stanica plodne vode s pomoću lančane reakcije polimerazom (PCR).
Summary
Summary. Modern management of Rh alloimmunization includes early diagnosis of fetal RhD genotype, precise assessment of the severity of fetal anemia and the use of minimal number of invasive diagnostic and therapeutic procedures. The severity of fetal anemia can be assessed by Doppler ultrasound, while fetal RhD genotype is determined from the amniotic cells or fetal DNA extracted from the mother’s serum by polymerase chain reaction (PCR). Although prenatal RhD genotype ¬diagnostic techniques have been used in developed countries more than 10 years, they have not been available in Croatia ¬until recently. As a consequence of unavailability of these techniques in Croatia there has been inadequate approach to the patient, in whom inappropriate and unnecessary visits, amniocentesis, cordocentesis and laboratory tests were performed. Therefore, we describe the first case of successful prenatal diagnosis of fetal RhD genotype by PCR analysis of DNA extracted from amniotic fluid cells.
