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A Case of Alloimmune Thrombocytopenia, Hemorrhagic Anemia-Induced Fetal Hydrops, Maternal Mirror Syndrome, and Human Chorionic Gonadotropin–Induced Thyrotoxicosis

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A Case of Alloimmune Thrombocytopenia, Hemorrhagic Anemia-Induced Fetal Hydrops, Maternal Mirror Syndrome, and Human Chorionic Gonadotropin–Induced Thyrotoxicosis 41 A Case of Alloimmune Thrombocytopenia, Hemorrhagic Anemia-Induced Fetal Hydrops, Maternal Mirror Syndrome, and Human Chorionic Gonadotropin–Induced Thyrotoxicosis Venu Jain, MD, PhD1 Gwen Clarke, MD2 Laurie Russell, MD2 Angela McBrien, MD3 Lisa Hornberger, MD3 Carmen Young, MD1 Sujata Chandra, MD1 1 Division of Maternal-Fetal Medicine Royal Alexandra Hospital, Address for correspondence Venu Jain, MD, PhD, Assistant Professor, University of Alberta, Edmonton, Alberta, Canada 5S131 Lois Hole Hospital, Royal Alexandra Hospital, 10240 Kingsway 2 Department of Pathology and Laboratory Medicine, Royal Alexandra Avenue, Edmonton, Alberta T5H 3V9, Canada Hospital, University of Alberta, Edmonton, Alberta, Canada (e-mail: [email protected]). 3 Division of Pediatric Cardiology/Fetal and Neonatal Cardiology Program, Royal Alexandra Hospital, University of Alberta, Edmonton, Alberta, Canada Am J Perinatol Rep 2013;3:41–44. Abstract Fetal/neonatal alloimmune thrombocytopenia (FNAIT) can be a cause of severe fetal Keywords thrombocytopenia, with the common presentation being intracranial hemorrhage in ► FNAIT the fetus, usually in the third trimester. A very unusual case of fetal anemia progressed to ► NAIT hydrops. This was further complicated by maternal Mirror syndrome and human ► antiplatelet chorionic gonadotropin–induced thyrotoxicosis. Without knowledge of etiology, and antibodies possibly due to associated cardiac dysfunction, fetal transfusion resulted in fetal demise. ► HPA 1a Subsequent testing revealed FNAIT as the cause of severe hemorrhagic anemia. In cases ► intrauterine with fetal anemia without presence of red blood cell antibodies, FNAIT must be ruled out transfusion as a cause prior to performing fetal transfusion. Fetal heart may adapt differently to ► intraperitoneal acute hemorrhagic anemia compared with a more subacute hemolytic anemia. transfusion Fetal anemia, if untreated, can progress to hydrops fetalis and Case Report fetal demise, and a high output cardiac failure is thought to be the mechanism involved.1,2 Despite advent of rhesus D immune A 36-year-old Caucasian gravida 2, para 0 at 25 weeks 6 days globulin, red blood cell isoimmunization remains a common gestation with limited prenatal care was referred for maternal cause of fetal hydrops.1,3 In addition to immune hydrops fetalis, hypertension, elevated liver transaminases, and worsening fetal anemia is also the cause of 10 to 27% of cases of nonimmune maternal edema. On arrival, she gave a history of palpitations fetal hydrops.2 Etiologic mechanisms include fetomaternal hem- and shortness of breath. Her weight gain in this pregnancy orrhage, hemoglobinopathies, and parvovirus infection. Cur- was 30 pounds. She was noted to be mildly tachycardic, with rently, middle cerebral artery (MCA) Doppler has replaced labile blood pressure (BP), and nondependent edema. Serial amniocentesisasanoninvasive screen for fetal anemia.3,4 Inva- investigations showed low/downtrending hemoglobin (107 sive approaches (i.e., cordocentesis and intrauterine transfusion) to 90 g/L), low normal/downtrending platelet counts (192 to are needed for confirmation and treatment of fetal anemia.5 146), increasing aspartate aminotransferase/alanine received Copyright © 2013 by Thieme Medical DOI http://dx.doi.org/ August 8, 2012 Publishers, Inc., 333 Seventh Avenue, 10.1055/s-0032-1331379. accepted after revision New York, NY 10001, USA. ISSN 2157-6998. August 11, 2012 Tel: +1(212) 584-4662. published online January 25, 2013 42 Alloimmune Thrombocytopenia, Hemorrhagic Fetal Anemia, and Hydrops Jain et al Fig. 1 (Upper panel) Biventricular inflow Dopplers were abnormal with greater flow in early diastole (E) compared with late diastole atrial systole (A), potentially in keeping with abnormal myocardial diastolic function. (Lower panel) Four-chamber view of the heart demonstrating mild cardiomegaly associated with increased biventricular wall thickness or hypertrophy and no chamber dilation. The calculated combined cardiac output was normal for gestational age. LV, left ventricle; RA, right atrium; RV, right ventricle. Fig. 2 (Upper panel) Peritoneal aspiration and transfusion. The white aminotransferase (62 to 152/70 to 174 U/L), high normal urate arrow delineates the needle inserted into fetal abdomen for drainage (287 μmol/L), and no significant proteinuria. Obstetric ultra- of ascites and intraperitoneal transfusion. (Lower panel) sound showed a low normal amniotic fluid volume, a thick Posttransfusion middle cerebral artery Dopplers. The peak systolic velocity is within normal range for this gestation; however, very high placenta, and fetal hydrops (skin edema, moderate ascites, diastolic flow is seen. A, hemorrhagic ascites; L, fetal liver; P, and mild pleural effusion). MCA Doppler showed elevated hydropic placenta. peak systolic velocity (PSV; 60 cm/s, > 1.55 multiple of median [MoM]), suggesting fetal anemia. Furthermore, re- duced flow in atrial systole in the ductus venosus suggested transfusion was performed without complication with a low cardiac dysfunction. Serological testing was negative for red target hemoglobin of approximately 90 g/L and net transfu- blood cell antibodies. Other routine laboratory investigations sion of 22 mL. No streaming of blood was noted from the cord for fetal hydrops including a screen for parvovirus and a root site after completion of transfusion. Furthermore, to Kleihauer-Betke test were also performed. Fetal echocardiog- allow a slower additional transfusion, decision was made to raphy showed moderate cardiomegaly and biventricular hy- proceed with an intraperitoneal transfusion.6 Upon entry into pertrophy with normal end diastolic ventricular dimensions the peritoneal cavity, the aspirated fluid was noted to be and normal systolic function (►Fig. 1). Pulsed Doppler find- bloody rather than serous as expected in fetal hydrops ings were consistent with mild diastolic dysfunction with (►Fig. 2). Peritoneal fluid (40 mL) was removed and 20 mL increased ventricular inflow velocities during early diastole of blood was transfused. Immediately posttransfusion, MCA (►Fig. 1), abnormal tissue velocities, and increased a-wave PSV declined appropriately to 32 cm/s. An unusual MCA reversal in the hepatic veins. finding was the presence of very high diastolic flow velocities Given the diagnosis of nonimmune fetal anemia with suggesting cerebral redistribution (►Fig. 2). Unfortunately, hydrops, a fetal transfusion was planned for the next day. an hour later, the fetus was noted to have died. The mother With an anterior placenta, cordocentesis was performed at subsequently underwent induction of labor. During induc- the placental root. Bedside testing showed that fetal hemo- tion, because of her respiratory symptoms, a maternal echo- globin was 39 g/L. To avoid fetal cardiac overload, exchange cardiogram, ventilation perfusion scan, and lower-extremity American Journal of Perinatology Reports Vol. 3 No. 1/2013 Alloimmune Thrombocytopenia, Hemorrhagic Fetal Anemia, and Hydrops Jain et al 43 ultrasound were performed and were normal. However, the the neonate.8 FNAIT has been reported as the likely cause of chest X-ray showed interstitial edema suggesting mild pul- fetal anemia (61 g/L) with hydrops in one case at 28 weeks of monary edema, further supporting a diagnosis of Mirror gestation.9 However, in this case, no major hemorrhage was syndrome.7 Maternal thyroid-stimulating hormone (TSH) noted anywhere in the fetus, and chronic microhemorrhagic was severely depressed (< 0.03 mU/L) with elevated free anemia was presumed. In another reported case, intracranial T3/T4 (11.5/36.9 pmol/L) and markedly elevated human and perirenal hemorrhages were noted in a nonhydropic fetus chorionic gonadotropin (hCG; 440,000 U/L). With a diagnosis at 22 weeks, and FNAIT was suspected, though neither anemia of chorionic gonadotropin-induced thyrotoxicosis, she was nor thrombocytopenia could be confirmed.10 The case de- started on a β-blocker. scribed here is the first case to our knowledge where FNAIT The pretransfusion fetal blood sample subsequently ana- was the cause of very early onset and severe hemorrhagic lyzed by the laboratory confirmed severe fetal anemia (he- anemia causing hydrops. This is supported by presence of moglobin 21 g/L) and identified the unexpected finding of severe thrombocytopenia in the fetus with hemorrhage into severe thrombocytopenia (platelet count 9 Â 109/L). In addi- multiple sites, severe anemia, anti-HPA-1a antibodies in the tion, antiplatelet antibodies with anti-human platelet antigen mother and HPA-1a antigen in the fetus, and lack of any other (HPA)-1a specificity were present in maternal blood. The fetus identifiable cause of anemia. As reported by Stanworth et al9 was confirmed, on the basis of DNA obtained from fetal and in the current case, fetal red blood cell transfusion resulted postmortem tissue, to have an HPA 1a/1b genotype, and in fetal demise. In neither of the cases was concurrent platelet maternal genotyping for the HPA gene indicated HPA 1b/1b. transfusion undertaken as the diagnosis was not suspected. Maternal antibodies to parvovirus were absent and Kleiha- This resulted from the fact that platelet antibody testing is not uer-Betke test was negative. Pathological examination of the part of the usual investigation for fetal anemia Æ hydrops.11 fetus showed extensive petechial hemorrhages into the skin Based on this case, in the setting of suspected fetal anemia Æ (►Fig. 3), with bloody fluid in the pleural and peritoneal
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