Fetal hydrops can stem from immune or nonimmune causes. Immune causes often involve red cell alloimmunization, whereas nonimmune causes encompass structural malformations, aneuploidy, infections, lymphatic system disorders, genetic syndromes, and more. In a rare and complex case, we encountered a fetal hydrops presentation characterized by blended phenotypes, indicating both a genetic and an underlying immune etiology. The mother, Rhesus negative, presented with a history of adverse obstetric events. At 21 weeks, the current fetus was diagnosed with hydrops. Maternal blood tests unveiled Rhesus alloimmunization, featuring a positive indirect Coombs test at a 1:512 dilution and the presence of anti-D, anti-C, and anti-E antibodies. Fetal blood sampling revealed an O-positive blood group with a hemoglobin level of 10 gm/dL. Despite administering intrauterine transfusion to the fetus, there was no improvement; instead, the fetal hydrops worsened, accompanied by the emergence of nuchal and axillary masses. Exome sequencing of fetal DNA revealed the fetus was homozygous for a pathogenic variant in the SERPINA11 gene and compound heterozygous for a pathogenic variant in the PIEZO1 gene. Furthermore, the combination of pathogenic variants in SERPINA11 and PIEZO1 genes has not been described in cases of fetal hydrops before. This case posed significant challenges in management due to the concurrent presence of both immune and nonimmune hydrops. We describe some of the diagnostic challenges faced in clinical management of this case.

Fetal hydrops can stem from immune or nonimmune causes. Immune causes often involve red cell alloimmunization, whereas nonimmune causes encompass structural malformations, aneuploidy, infections, lymphatic system disorders, genetic syndromes, and more. In a rare and complex case, we encountered a fetal hydrops presentation characterized by blended phenotypes, indicating both a genetic and an underlying immune etiology. The mother, Rhesus negative, presented with a history of adverse obstetric events. At 21 weeks, the current fetus was diagnosed with hydrops. Maternal blood tests unveiled Rhesus alloimmunization, featuring a positive indirect Coombs test at a 1:512 dilution and the presence of anti-D, anti-C, and anti-E antibodies. Fetal blood sampling revealed an O-positive blood group with a hemoglobin level of 10 gm/dL. Despite administering intrauterine transfusion to the fetus, there was no improvement; instead, the fetal hydrops worsened, accompanied by the emergence of nuchal and axillary masses. Exome sequencing of fetal DNA revealed the fetus was homozygous for a pathogenic variant in the SERPINA11 gene and compound heterozygous for a pathogenic variant in the PIEZO1 gene. Furthermore, the combination of pathogenic variants in SERPINA11 and PIEZO1 genes has not been described in cases of fetal hydrops before. This case posed significant challenges in management due to the concurrent presence of both immune and nonimmune hydrops. We describe some of the diagnostic challenges faced in clinical management of this case.

OBJECTIVE: To describe the demographic and clinical characteristics of patients with glaucoma managed at private and government institutions in the Philippines between 2009 and 2014.

METHODS: A research team from two private and two government institutions in the Philippines reviewed the case records of 1246 patients seen who met the following criteria: intraocular pressure of >21 mmHg, optic nerve and nerve fiber layer abnormalities, and visual field defects. For bilateral cases, we selected the eye with worse glaucoma parameters.

RESULTS: There were 600 and 646 patients in the private and government groups (mean age at presentation, 60.51 and 55.88 years), respectively, with the majority being Filipino (91%). Patients with visual acuity (VA) of 20/20 to 20/40 were more frequently observed in private centers (58.7% vs. 41.3%), while a VA worse than counting fingers was more frequently observed in government centers (66.1% vs. 33.9%). Within-group analysis showed that primary angle-closure glaucoma was the most frequent glaucoma subtype in both private (27.3%) and government institutions (37.8%). In between-group analysis showed the following to be more common in private than government centers: primary open-angle glaucoma (61.3% vs. 38.7%), normal-tension glaucoma (63.9% vs. 36.1%), ocular hypertension (92.3% vs. 7.7%), and glaucoma suspects (80.4% vs. 19.6%) while government institutions registered a larger number of primary angle-closure glaucoma (59.8% vs. 40.2%) and secondary glaucoma (70.3% vs. 29.7%) cases. Medical treatment using a single drug and multiple drugs was employed for 245 (23%) and 825 (77%) patients, respectively. Within-group analysis showed that laser iridotomy and trabeculectomy were the most commonly performed laser and surgical procedures in both institution types.

CONCLUSION: There is a contrasting profile of glaucoma between clinical institutions in the Philippines with openangle glaucoma being more predominant in private centers while closed-angle glaucoma and secondary glaucoma being more frequent in government centers. Our findings may provide important preliminary information that can aid future health studies or training programs.

Human ; Glaucoma ; Patients