Skuteczna terapia prenatalna i dobre wyniki odległe leczenia płodu ze skrajnie ciężką chorobą hemolityczną – opis przypadku

Abstract

A 34-year-old multiparous woman presented with anti-Rh-D antibodies (1: 512) and fetal hydrops at the 21st week of gestation. Ultrasound revealed massive fetal skin edema, ascites, hepatomegaly, placentomegaly, and anhydramnios. No fetal movements were observed. Fetal heart was enlarged, with reportedly decreased contractibility. The Doppler parameters were abnormal: the peak systolic velocity in median cerebral artery (MCA PSV) was increased (84 cm/s, 3 MoM), and absent end diastolic flow (AEDF) was reported in the umbilical artery. Ultrasound examination indicated severe fetal anemia and heart failure. Umbilical vein puncture was performed and the fetal blood count was determined (RBC 0.01 × 106/µl, Ht 0.1%, PLT 67 × 103/µl, WBC 2.1 × 103/µl, indeterminable hemoglobin level). Packed red blood cells (0 Rh-, 30 ml) were immediately transfused to the fetus. Altogether, seven intrauterine transfusions were performed. Fetal hydrops disappeared gradually during the next few weeks. The male neonate (1860 g, 45 cm, Apgar score 3–4) was delivered after the last transfusion at 34th week of gestation due of intrauterine asphyxia. The infant was discharged after 21 days, in good condition, on breastfeeding. There was one 10 mm focus of periventricular leukomalacia in the brain, diagnosed based on trans-fontanel ultrasound, without any signs of damage to other organs. At the age of 5 years, the child is healthy, with no abnormalities in his neurodevelopmental parameters.

Nieimmunologiczny obrzęk płodu w wyniku talasemii alfa. Opis przypadku zdiagnozowanego i leczonego prenatalnie w Polsce

“…Hemoglobina jest białkiem, którego funkcją jest transport tlenu z płuc do [11]. Leczenie prenatalne anemii w przebiegu talasemii polega na wykonywaniu seryjnych transfuzji dopłodowych masy erytrocytarnej [12].…”