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Etiology of Hydrops Fetalis at the Philippine General Hospital: a Retrospective Study

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Etiology of Hydrops Fetalis at the Philippine General Hospital: a Retrospective Study Parent’s Communication with Children about CAH ORIGINAL ARTICLE Etiology Hydrops Fetalis at the PGH 6. Metcalfe A, Plumridge G, Coad J, Shanks A, Gill P. Parents’ and diagnosed by newborn screening and treated with low doses of children's communication about genetic risk: a qualitative study, hydrocortisone. Horm Res Pædiatr. 2011;75(1):32-7. doi:10.1159/000316973. Etiology of Hydrops Fetalis at the Philippine General Hospital: learning from families' experiences. Eur J Hum Genet. 2011; 19(6):640-6. 18. Janjanin N, Dumic M, Skrabic V, Kusec V, Grubic Z, Spehar Uroic A. doi:10.1038/ejhg.2010.258. Five patients with congenital adrenal hyperplasia due to 21-hydroxylase A Retrospective Study 7. Rowland E, Metcalfe A. Communicating inherited genetic risk between deficiency (one with associated neuroblastoma) discovered in three parent and child: A meta-thematic synthesis. Int J Nurs Stud. 2013; generations of one family. Horm Res. 2007; 67(3):111-6. doi:10.1159/ 50(6):870-80. doi:10.1016/j.ijnurstu.2012.09.002. 000096420. Michelle E. Abadingo and Maria Melanie Liberty B. Alcausin 8. McConkie-Rosell A, Del Giorno J, Heise EM. Communication of genetic 19. Newborn Screening Reference Center. Prevalence of Disorders Among risk information to daughters in families with fragile X syndrome: The Filipino Newborns (1996-2014) [Online]. 2014 [cited 2015 May]. Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila parent’s perspective. J Genet Couns. 2011; 20(1):58-69. doi:10.1007/ Available from http://www.newbornscreening.ph/images/stories/ s10897-010-9326-9. ResourcesPrevalence/prevalence-2014.pdf. 9. Plumridge G, Metcalfe A, Coad J, Gill P. Parents’ communication with 20. Braun V, Clarke V. Using thematic analysis in psychology. Qual Res siblings of children affected by an inherited genetic condition. J Genet Psychol. 2006; 3(2):77-101. ABSTRACT Introduction Couns. 2011; 20(4):374-83. doi:10.1007/s10897-011-9361-1. 21. Smith JA, Dancyger C, Wallace M, Jacobs C, Michie S. The development Objective. Hydrops fetalis (HF) is a diagnosis with significant Hydrops fetalis (HF) is defined as abnormal 10. Pentz RD, Peterson SK, Watts B, et al. Hereditary nonpolyposis of a methodology for examining the process of family communication of morbidity and mortality. It is the objective of this study to colorectal cancer family members’ perceptions about the duty to inform genetic test results. J Genet Couns. 2011; 20(1):23-34. doi:10.1007/s10897- accumulation of serous fluid in two or more fetal identify common etiologic causes of HF in the Philippine General and health professionals' role in disseminating genetic information. 010-9317-x. compartments; such as skin, pleura, pericardium, Hospital (PGH). Genet Test. 2005; 9(3):261-8. doi:10.1089/gte.2005.9.261. 22. McConkie-Rosell A, Heise EM, Spiridigliozzi GA. Genetic risk peritoneum, placenta and amniotic fluid. There are two 11. Aktan-Collan KI, Kääriäinen HA, Kolttola EM, et al. Sharing genetic risk communication: experiences of adolescent girls and young women from with next generation: Mutation-positive parents’ communication with families with Fragile X Syndrome. J Genet Couns. 2009; 18(4):313-25. Methods. This is a retrospective review of hydrops fetalis cases categories of hydrops fetalis: isoimmune (IHF) and non- their offspring in Lynch Syndrome. Fam Cancer. 2011; 10(1):43-50. 23. Gallo AM, Angst D, Knafl KA, Hadley E, Smith C. Parents sharing delivered at the PGH from 2010 to 2014. There was a total of 75 isoimmune (NIHF). IHF results in erythroblastosis fetalis, doi:10.1007/s10689-010-9386-x. information with their children about genetic conditions. J Pediatr identified cases of hydrops fetalis. However, only 58 of these, or where there is an increased rate of red blood cell (RBC) 12. Wilson BJ, Forrest K, van Teijlingen ER, et al. Family communication Health Care. 2005;19(5):267-75. doi:10.1016/j.pedhc.2005.05.008. 77.33% have available medical charts for review. destruction due to transplacental passage of maternal about genetic risk: the little that is known. Community Genet. 2004; 24. Boyd DR, Bee HL, Johnson PA. Lifespan Development. Pearson/A and 7(1):15-24. doi:10.1159/000080300. B; 2006. antibody active against paternal RBC antigens of the infant; 13. Hay J, Dibonaventura M, Baser R, Press N, Shoveller J, Bowen D. 25. Rosenthal DA, Gurney RM, Moore SM. From trust on intimacy: A new Results. The median gestational age at birth was 31 (range 21- this entity is approximately 3 times more frequent in the Personal attributions for melanoma risk in melanoma-affected patients inventory for examining Erikson’s stages of psychosocial development. J 40) weeks. There were 19 identified cases (32%) of stillbirth. Of Caucasian population.1 NIHF on the other hand develops in and family members. J Behav Med. 2011; 34(1):53-63. doi:10.1007/s10865- Youth Adolesc. 1981; 10(6):525-37. the 32 patients born alive, 30 (93.75%) died in the immediate the absence of maternal antibody-fetal antigen mediated 010-9286-4. 26. Zimmer-Gembeck MJ, Collins WA. Autonomy Development during neonatal period. The etiologies of HF were identified in 15 cases, 2 14. Hughes IA. Congenital adrenal hyperplasia--a continuum of disorders. Adolescence. Oxford: Blackwell Publishers; 2003. which included congenital anomalies (n=4), cardiac anomalies RBC destruction. At present, NIHF comprise 76-90% of all 3, 4 Lancet. 1998; 352(9130):752-4. doi:10.1016/S0140-6736(98)22037-X. 27. Meyer-Bahlburg HF, Dolezal C, Baker SW, Ehrhardt AA, New MI. (n=3), infectious problems (n=3), hematologic anomalies (n=2), described HF cases.3, 4 15. Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet. 2005; Gender development in women with congenital adrenal hyperplasia as Several studies were done elucidating the possible 365(9477):2125-36. doi:10.1016/S0140-6736(05)66736-0. a function of disorder severity. Arch Sex Behav. 2006; 35(6):667-84. placental anomalies (n=2) and congenital tumor (n=1). Cases of 16. Collett-Solberg PF. Congenital adrenal hyperplasia: from genetics and doi:10.1007/s10508-006-9068-9. congenital anomalies were only detected by congenital anomaly causes of NIHF. While there are many identified causes of biochemistry to clinical practice, part 2. Clin Pediatr (Phila). 2001; 28. Gallo AM, Knafl KA, Angst DB. Information management in families scan; no further work-ups were done. Fifteen (15) mothers NIHF, increase in central venous pressure (CVP) is common 40(3):125-32. doi:10.1177/000992280104000301. who have a child with a genetic condition. J Pediatr Nurs. 2009; presented with microcytic, hypochromic anemia on complete in the pathophysiology of NIHF. This leads to accumulation 17. Bonfig W, Schmidt H, Schwarz HP. Growth patterns in the first three 24(3):194-204. doi:10.1016/j.pedn.2008.07.010. blood count (CBC). The cause of HF was not confirmed in the of interstitial fluid, leading to hydrops fetalis.5 years of life in children with classical congenital adrenal hyperplasia remaining 43 (74%) cases. Cardiovascular anomalies was identified as a main etiologic factor for NIHF.3,6,7 However, certain populations may have Conclusion. It is important to fully investigate the causes of HF to aid in the proper management and counseling. Further work-up increased propensity for NIHF due to particular medical must be done for mothers presenting with microcytic, conditions inherent in the population. An example would hypochromic anemia. This is an important feature of alpha be HB Bart’s hydrops fetalis syndrome wherein the absence thalassemia. Partners of women suspected to have alpha of four alpha-globin genes would result into a severe form thalassemia should also have a hematologic screening. The of anemia. If left untreated, this condition will result to deletion of the four alpha genes will result to HB Bart’s hydrops death in the second or third trimester of gestation, or fetalis; a major cause of hydrops fetalis in Southeast Asian neonatal period.8-8-10 The most severe forms of alpha- countries. thalassemia are restricted in the Southeast Asian region, 11 Key Words: Hydrops fetalis, etiology, fetal outcome which includes the Philippines and China. In Southeast Asia, alpha-t-thalassemia is the most common cause of fetal hydrops, accounting to 60% to 90% of cases.8,9 In a 2003 retrospective study done in MCU-Filemon D. Tantoco Medical Foundation (MCU-FDTMF) in the Philippines, ______________ thalassemias ranked third in the most common cause of Paper presented as a poster at the 28th International Pediatrics Association hydrops fetalis.12 Conference, August 17-22, 2016, Vancouver Convention Center, Vancouver, In a national database in the United States, 598 neonates BC, Canada. of 253,651 discharges from neonatal ICUs (NICU), or 0.23% Corresponding author: Michelle E. Abadingo, MD of discharges were identified with hydrops fetalis. Thirty-six Department of Pediatrics percent of these patients died before hospital discharge.6 In a Philippine General Hospital 2003 study done at the Philippine General Hospital (PGH), University of the Philippines Manila th Taft Avenue, Ermita, Manila 1000 Philippines hydrops fetalis ranked 5 in the most common congenital Telephone: +632 5261710 anomalies.13 In a more recent study done in the same Email: [email protected] institution, results shoshowedwed that hydrops fetalis was one of 180 ACTA MEDICA PHILIPPINA VOL. 51 NO. 3 2017 VOL. 51 NO. 3 2017 ACTA MEDICA PHILIPPINA 181 Etiology Hydrops Fetalis at the PGH the frequently encountered congenital anomalies detected by and Gynecology; and Section of Neonatology under the prenatal ultrasound. However, most of the hydropic fetuses Department of Pediatrics. As a tertiary referral center, it did not have a complete work-up as to the possible receives patient referrals needing specialized medical and etiology.14 Recent advances in prenatal ultrasound made it surgical care from other institutions all over the country.
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