Erythroblastosis Fetalis [keywords]
- A Rare Association of Non-Compaction of the Ventricular Myocardium, and Non-Immune Hydrops Fetalis. [Case Reports, Journal Article]
- J Okla State Med Assoc 2016 Apr-May; 109(4-5):146-50.
Hydrops fetalis is a rare manifestation of severe congestive heart failure in a fetus, resulting in pathological fluid accumulation in fetal soft tissues and/or serous cavities. Non-compaction of the ventricular myocardium, frequently referred to as the left ventricular non-compaction (LVNC), is a very rare congenital cardiomyopathy. For LVNC, echocardiography is the diagnostic modality of choice. Various diagnostic criteria exist based on either echocardiography or MRI. Currently, nonimmune hydrops fetalis (NIHF) comprise almost 90% of all hydrops fetalis cases. Among cardiovascular conditions that contribute to NIHF (20%), structural malformations (especially hypoplastic left heart, endocardial cushion defect) and arrhythmias are the most frequent etiological factors. We describe an extremely preterm neonate who presented with features of non-Immune hydrops fetalis (NIHF) associated with LVNC and profound refractory systemic hypotension.
- Fetal hypoxia secondary to severe maternal anemia as a causative link between blueberry muffin baby and erythroblastosis: a case report. [Journal Article]
- J Med Case Rep 2016; 10(1):155.
Neonatal blueberry muffin lesions are rare cutaneous eruptions, presenting as transient, non-blanching, red-violaceous papules, mostly localized in the trunk, head and neck, attributable to a marked dermal hematopoietic activity. Congenital infections of the TORCH complex (toxoplasmosis, other, rubella, cytomegalovirus and herpes) and hematological disorders have been classically associated with this neonatal dermatological manifestation. We report for the first time an unusual presentation of blueberry muffin lesions in a neonate born from a mother affected by severe anemia during pregnancy.A male, white Caucasian, neonate showed a cutaneous rash at birth, suggestive of "blueberry muffin"-like lesions. These cutaneous lesions were associated with marked elevation of the circulating nucleated red blood cells, and with ultrasound findings of peculiar brain ischemic porencephalic lesions. The clinical features of spontaneous disappearance and the association with marked erythroblastosis strongly suggest that these dermatological findings may be the consequence of an extramedullary hematopoiesis unexpectedly evoked by the intrauterine chronic exposure to hypoxia caused by severe maternal anemia.In conclusion, fetal hypoxia secondary to severe maternal anemia may play a causative and unreported role in the development of neonatal blueberry muffin lesions.
- Chorangiosis of Chorionic Villi: What Does It Really Mean? [Journal Article]
- Arch Pathol Lab Med 2016 Jun; 140(6):588-93.
-Chorangiosis has been regarded as a result of low-grade placental hypoxia associated with pregnancy risk factors and abnormal outcomes. It is unknown whether these are a consequence of chorangiosis itself or of associated other placental pathology.-To prove that chorangiosis itself does not portend an increased risk for pregnancy unless associated with other placental pathology.-This retrospective statistical study analyzes 1231 consecutive placentas with diffuse or focal hypervascularity of chorionic villi: 328 with preuterine pattern of chronic hypoxic placental injury (group 1), 297 with uterine type of chronic hypoxic placental injury (group 2), and 606 cases with chorangiosis (group 3) not fulfilling the inclusion criteria for groups 1 or 2.-Group 2, with 33 cases of chorangiosis (11.1%), featured 10 and 11 statistically significant highest percentages of abnormal clinical and placental variables, respectively; group 3 featured the highest percentages of multiple pregnancy, the heaviest placentas, and the most common acute chorioamnionitis, fetal inflammatory response; and group 1 had the highest proportion of mild erythroblastosis of fetal blood. When comparing groups 1 and 3, 21 of 29 clinical risk factors/outcomes (72.4%) and 30 of 41 placental variables (73.2%) were more common in group 1.-Presence of diffuse hypoxic patterns of placental injury adds prognostically negative significance to increased vascularity of chorionic villi. Chorangiosis without those patterns portends minimal risk for the pregnancy, and is associated with significantly fewer pregnancy risk factors, abnormal outcomes, and other placental abnormalities.
- [Not Available]. [Case Reports, English Abstract, Journal Article]
- Rev Med Brux 2016 Jan-Feb; 37(1):13-7.
This is the clinical history of a term baby born at home who presents a severe hyperbilirubinémia. The medical monitoring was assessed by a private midwife according to parental choice. On the third day of life, the newborn presented an icterus and was exposed to natural daylight in the familial greenhouse under the midwife recommandations. On that day, no laboratory test precised the bilirubin level. On the fifth day, a blood sampling revealed a very high blood bilirubinémia (31 mg/dl or 527 mmol/L), the baby is refered to our NICU and underwent an exchange transfusion. The radiological assessment report structural abnomalies in basal ganglia seen on both MRI and transfontannellar echography. These lesions are known to be responsible of cerebral palsy and hearing loos. The neurophysiologic investigations showed background abnormaly and depression. The extensive blood sampling excluded haemolysis. The clinical examination brought out neurologic impairement and weight loos in this exclusively breastfed baby. This clinical case point out the increasing risk of home Kernicterius as hospital stays diminish and homebirth enthousiasm rise up. The present clinical situation vouches for an adaptation of care giving to both mother and child at home in order to avoid this severe illness.
- Zika Virus Infection and Stillbirths: A Case of Hydrops Fetalis, Hydranencephaly and Fetal Demise. [Case Reports, Journal Article]
- PLoS Negl Trop Dis 2016 Feb; 10(2):e0004517.
The rapid spread of Zika virus in the Americas and current outbreak of microcephaly in Brazil has raised attention to the possible deleterious effects that the virus may have on fetuses.We report a case of a 20-year-old pregnant woman who was referred to our service after a large Zika virus outbreak in the city of Salvador, Brazil with an ultrasound examination that showed intrauterine growth retardation of the fetus at the 18th gestational week. Ultrasound examinations in the 2nd and 3rd trimesters demonstrated severe microcephaly, hydranencephaly, intracranial calcifications and destructive lesions of posterior fossa, in addition to hydrothorax, ascites and subcutaneous edema. An induced labor was performed at the 32nd gestational week due to fetal demise and delivered a female fetus. ZIKV-specific real-time polymerase chain reaction amplification products were obtained from extracts of cerebral cortex, medulla oblongata and cerebrospinal and amniotic fluid, while extracts of heart, lung, liver, vitreous body of the eye and placenta did not yield detectable products.This case report provides evidence that in addition to microcephaly, there may be a link between Zika virus infection and hydrops fetalis and fetal demise. Given the recent spread of the virus, systematic investigation of spontaneous abortions and stillbirths may be warranted to evaluate the risk that ZIKV infection imparts on these outcomes.
- Phototherapy induced cutaneous eruption in a neonate with transient porphyrinemia. [Journal Article]
- J Neonatal Perinatal Med 2015; 8(4):417-20.
Phototherapy for hyperbilirubinemia has rare complications. We report a case of phototherapy induced eruption in a neonate with transient porphyrinemia. Our patient received phototherapy due to hyperbilirubinemia secondary to erythroblastosis fetalis (hemolytic disease of the newborn). He developed a cutaneous rash in the light-exposed areas of his skin. Erythrocyte and plasma porphyrins were elevated at the time. Phototherapy induced eruption with a transient porphyrinemia is rare. Upon review of the literature, we found only 5 other cases of patients with phototherapy induced rash and elevated porphyrins reported. We compared the five other reported cases to our case, looking at drug exposure, age, and receipt of exchange transfusion.While this is an uncommon occurrence, transient porphyrinemia should be considered in neonates with phototherapy induced cutaneous eruption and erythroblastosis fetalis.
- Case report: Severe hemolytic disease of the fetus and newborn due to anti-C+G. [Case Reports, Journal Article]
- Immunohematology 2015; 31(3):123-7.
Anti-G is commonly present with anti-D and/or anti-C and can confuse serological investigations. in general, anti-G is not considered a likely cause of severe hemolytic disease of the fetus and newborn (HDFN), but it is important to differentiate it from anti-D in women who should be administered anti-D immunoglobulin prophylaxis. We report one woman with three pregnancies severely affected by anti-C+G requiring intrauterine treatment and a review of the literature. In our case, the identification of the correct antibody was delayed because the differentiation of anti-C+G and anti-D+C was not considered important during pregnancy since the father was D-. In addition, anti-C+G and anti-G titer levels were not found to be reliable as is generally considered in Rh immunization. Severe HDFN occurred at a maternal anti-C+G antibody titer of S and anti-G titer of 1 in comparison with the critical titer level of 16 or more in our laboratory. close collaboration between the immunohematology laboratory and the obstetric unit is essential. In previously affected families, early assessment for fetal anemia is required even when titers are low.
- Blocked D phenomenon and relevance of maternal serologic testing. [Case Reports, Journal Article]
- Immunohematology 2015; 31(3):116-8.
A blood requisition for double-volume exchange transfusion was received for a 2-day-old male child born to a 29-year-old multiparous female (P2002) referred to our institute having neonatal jaundice with encephalopathy; no maternal sample was received. the neonatal blood sample was typed as group A, D-, and the direct antiglobulin test (DAT) was strongly positive (4+) using the gel method. Mono-specific DAT showed the presence of IgG antibodies on neonatal red blood cells (RBCs). Acid elution and gentle heat elution (at 56°C) confirmed the presence of anti-D on neonatal RBCs. The baby received two exchange transfusions with group O, D-, packed RBCs compatible with his own serum. Later, on day 3, the neonate's mother was typed as group AB, D-, and her serum revealed the presence of alloanti-D, -C, and -S reactive in the anti-human globulin phase. The anti-D titer was 1024. this report highlights the "blocking" phenomenon caused by maternal anti-D in a case of hemolytic disease of fetus and newborn with a positive DAT.
- Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. [Journal Article, Research Support, Non-U.S. Gov't]
- Hum Genet 2016 Feb; 135(2):209-22.
RASopathies are autosomal dominant disorders caused by mutations in more than 10 known genes that regulate the RAS/MAPK pathway. Noonan syndrome (NS) is a RASopathy characterized by a distinctive facial appearance, musculoskeletal abnormalities, and congenital heart defects. We have recently identified mutations in RIT1 in patients with NS. To delineate the clinical manifestations in RIT1 mutation-positive patients, we further performed a RIT1 analysis in RASopathy patients and identified 7 RIT1 mutations, including two novel mutations, p.A77S and p.A77T, in 14 of 186 patients. Perinatal abnormalities, including nuchal translucency, fetal hydrops, pleural effusion, or chylothorax and congenital heart defects, are observed in all RIT1 mutation-positive patients. Luciferase assays in NIH 3T3 cells demonstrated that the newly identified RIT1 mutants, including p.A77S and p.A77T, and the previously identified p.F82V, p.T83P, p.Y89H, and p.M90I, enhanced Elk1 transactivation. Genotype-phenotype correlation analyses of previously reported NS patients harboring RIT1, PTPN11, SOS1, RAF1, and KRAS revealed that hypertrophic cardiomyopathy (56 %) was more frequent in patients harboring a RIT1 mutation than in patients harboring PTPN11 (9 %) and SOS1 mutations (10 %). The rates of hypertrophic cardiomyopathy were similar between patients harboring RIT1 mutations and patients harboring RAF1 mutations (75 %). Short stature (52 %) was less prevalent in patients harboring RIT1 mutations than in patients harboring PTPN11 (71 %) and RAF1 (83 %) mutations. These results delineate the clinical manifestations of RIT1 mutation-positive NS patients: high frequencies of hypertrophic cardiomyopathy, atrial septal defects, and pulmonary stenosis; and lower frequencies of ptosis and short stature.
- Prevalence and Specificity of Red Blood Cell Alloantibodies in Patients from China During 1994-2013. [Journal Article]
- Zhongguo Shi Yan Xue Ye Xue Za Zhi 2015 Dec; 23(6):1734-41.
To analyze the data about red blood cell alloantibodies in patients from mainland China and to provide evidence for formulating a management guideline.The Chinese and English literatures about Chinese patients in mainland China published in periodicals were retrieved by CHKD, CNKI, CMJD and PubMed using the key words as unexpected antibody, irregular antibody, blood group antibody, hemolytic transfusion reaction (HTR), hemolytic disease of the newborn (HDN), hemolytic disease of the fetus and newborn (HDFN).A total of 5582 red blood cell alloantibodies were retrieved from 4800 patients. The average prevalence of alloantibody in 89 retrospective analysis reports was 0.34 %. Among all study patients, the 10 most common antibodies were anti-E (33.9%), anti-D (18.3%), anti-c (10.9%), anti-M (9.9%), anti-C (8.1%), anti-e (4.8%), anti-Le(a) (3.4%), anti-P1 (2.0%), anti-Mur (1.6%), and anti-Jk(a) (1.2%). Out of all 136 patients with HTR, the most frequentl alloantibodies were Rhesus antibodies (71.7%), and other antibodies included anti-Jk(b) (5.9%), anti-Le(a) (5.1%), anti-Jk(a) (3.7%), anti-M (1.5%), and anti-Mur (1.5%). A total of 644 alloantibodies contributing to HDFN come primarily from the Rhesus (93.1%) and MNS (6.0%) blood group systems.The postnatal Rh prophylaxis should become a routine procedure in mainland China. The use of blood matched for C, E, c, e, Jk(a) and Jk(b) should be recommended for Chinese patients with a history of multiple transfusions. Patients with MNS alloantibodies should be given sufficient attention, and Mur+ red blood cells should be included in antibody screening panels.