Managing the Unusual Causes of Fetal Anemia
Autor: | Vanina Castaigne, Stéphanie Friszer, Anne Cortey, Jean-Marie Jouannic, Thierry Leblanc, F. Pernot, Imane Ben M'Barek, A. Mailloux, Pauline Thomas, Lydie Da Costa, Cécile Toly Ndour, Emeline Maisonneuve |
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Rok vydání: | 2018 |
Předmět: |
Embryology
medicine.medical_specialty Anemia Blood Transfusion Intrauterine Gestational Age 03 medical and health sciences 0302 clinical medicine Pregnancy Risk Factors hemic and lymphatic diseases Hydrops fetalis medicine Neonatal hemochromatosis Humans Radiology Nuclear Medicine and imaging 030212 general & internal medicine Fetal Death Fetal Hemoglobin Retrospective Studies 030219 obstetrics & reproductive medicine Obstetrics business.industry Obstetrics and Gynecology Gestational age Abortion Induced General Medicine medicine.disease Fetal Diseases Congenital syphilis Treatment Outcome embryonic structures Pediatrics Perinatology and Child Health Etiology Female Congenital dyserythropoietic anemia business Live Birth Biomarkers |
Zdroj: | Fetal diagnosis and therapy. 47(2) |
ISSN: | 1421-9964 |
Popis: | Background: Rare causes of fetal anemia requiring intrauterine transfusion (IUT) are challenging for fetal medicine specialists. Objectives: The aim of this study was to describe the perinatal patterns and prognosis in a consecutive series of fetuses transfused for fetal anemia of rare or unknown etiology, and to propose a protocol of investigation for fetal anemia of undetermined cause and for the management of subsequent pregnancies. Method: We conducted a retrospective descriptive study on fetuses transfused for severe anemia of rare or unknown etiology managed in our national referral center (Centre National de Référence d’Hémobiologie Périnatale) and born between 2010 and 2017. Results: During the study period, 584 IUT were performed in 253 fetuses. Among those IUT, 23 (3.9%) were performed for a rare or unknown cause of anemia in 13 fetuses (5.1% of transfused fetuses). The median gestational age at diagnosis was 26 weeks of gestation (WG; range 21–33). Hemoglobin levels ranged from 1.6 to 9.1 g/dL (0.18–0.83 multiples of median) before the first IUT. The fetuses received between 1 and 6 IUT (39% received at least 2 IUT). The definitive etiologies for central anemia were: congenital syphilis, neonatal poikilocytosis, type II congenital dyserythropoietic anemia (CDA), and neonatal hemochromatosis. There was 1 case with suspected type I CDA and 1 with suspected Diamond-Blackfan anemia. There was 1 case of peripheral anemia, secondary to cerebral hemorrhages of different ages, related to a variant of the COL4A1 gene. In 6 fetuses corresponding to 4 mothers, no precise diagnosis was found despite a complete workup. In our series, there were 8 live births, 4 terminations of pregnancy, and 1 intrauterine fetal death. Conclusions: Fetal anemia of rare or unknown diagnosis represents 5% of all transfused fetuses in our cohort. Fetal and neonatal anemias can be recurrent in further pregnancies, with variable expressivity. |
Databáze: | OpenAIRE |
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