DOCSLIB.ORG

Lessons Learned from Two Missed Prenatal Cases of Hemoglobin

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Lessons Learned from Two Missed Prenatal Cases of Hemoglobin tics: Cu ne rr e en G t y R r e a Wu et al., Hereditary Genetics 2015, S7 t s i e d a e r r c DOI: 10.4172/2161-1041.S7-003 e h H Hereditary Genetics ISSN: 2161-1041 Case Report Open Access Lessons Learned from Two Missed Prenatal Cases of Hemoglobin Bart’s Hydrops Fetalis Until Second Trimester Despite a Nationwide Screening Program Wu WJ1,2#, Ma GC1,3#, Wu PC4, Huang KS5, Liu YL5, Chang SP1, Ginsberg NA6 and Chen M1,2,7,8* 1Department of Genomic Medicine, and Department of Genomic Technology and Science, Changhua Christian Hospital, Changhua, Taiwan 2Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan 3Institute of Biochemistry, Microbiology and Immunology, Chung-Shan Medical University, Taichung, Taiwan 4Taiji Fetal Medicine Center, Taipei, Taiwan 5Department of Obstetrics and Gynecology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan 6Department of Obstetrics and Gynecology, Feinberg School of Medicine, Northwestern University Medical Center, Chicago, IL, USA 7Department of Obstetrics and Gynecology, College of Medicine, and Hospital, National Taiwan University, Taipei, Taiwan 8Department of Life Science, Tunghai University, Taichung, Taiwan #These authors contributed equally to this study Abstract Hemoglobin (Hb) Bart’s hydrops fetalis is the most severe form of alpha-thalassemia and has high mortality. It is caused by deletion of all four α-globin genes leading to a severe deficiency in α-globin and to the production of γ-globin tetramers, resulting in ineffective tissue oxygen delivery. Current preconceptional or prenatal screening policies for this disorder are comprehensive, but not all pregnancies with Hb Bart’s disease can be detected early before hydrops become apparent. We report here two cases with Hb Bart’s disease that escaped being detected until second trimester after hydrops fetalis occurred. These cases remind the clinicians that the importance of this well-characterized condition (alpha-thalassemia) should be reasserted despite a nationwide screening program is available. We also review the current status of prenatal screening and diagnosis of alpha-thalassemia. Keywords: Alpha-thalassemia; Hb Bart’s; Hydrops fetalis; Fetal the first or early second trimester before hydrops become apparent. ascites; Cardiomegaly Here, we report two prenatal cases of Hb Bart’s disease, which escaped being detected by current screening program until second trimester Abbreviations: Hb: Hemoglobin; SEA: Southeastern Asia; HbCS: after developing hydrops fetalis. Besides, we discuss the limitations Hb Constant Spring; HbQS: Hb Quong Sze; GA: Gestational Age; of current “comprehensive” nationwide screening program used to MCV: Mean Corpuscular Volume; CBC: Complete Blood Count; screen alpha-thalassemia, as well as to review the current status and the MCH: Mean Corpuscular Hemoglobin; MCA-PSV: Peak Systolic future prospects. Velocity of Middle Cerebral Artery; CTR: Cardiothoracic Ratio; MoM: Multiples of Median; IHUV Vmax: Intrahepatic Umbilical Venous Case Report Maximum Flow Velocity; ARMS: Amplification Refractory Mutation Patient 1 System; PCR: Polymerase Chain Reaction A 33-year-old primigravida was referred to our hospital at 20+6 Introduction weeks of gestational age (GA) after her obstetrician noted fetal ascites Alpha-thalassemia is one of the most common hereditary in routine antenatal care. The parents of the fetus were both Han hemoglobinopathies, which interferes with the production of α-globin Chinese. In the first visit to our hospital, the mother claimed that she chains of hemoglobin (Hb) and causes perinatal complications. had normal antenatal test results except iron deficiency anemia by the Approximately 5% of the world’s population carries mutant or variant result of complete cell count (CBC), ferritin, serum iron and total iron alleles over the α-globin gene, with the high frequencies throughout binding capacity. But her obstetricians didn’t request her husband to be most of Southeastern Asia (SEA), the Mediterranean area, the Indian checked. The initial ultrasound performed at our hospital showed a live subcontinent, the Middle East and Africa. In SEA region, the frequency singleton fetus whose estimated fetal weight below the 10th percentile. of α0-thalassemia variants (αα/- -) is about 5-15% [1]. Among Taiwanese, Anatomical examination demonstrated massive fetal ascites, echogenic the carrier rate of alpha-thalassemia is approximately 5-7% [2]. The bowels and cardiomegaly (cardiothoracic ratio: 0.63) (Figure 1). No disorder is associated with more than 100 known molecular defects in other structural abnormalities were noted. The amniotic fluid volume the gene cluster located on the short arm of chromosome 16 (16p13.3) and these defects can result in various clinical phenotypes [3]. Hb Bart’s hydrops fetalis is the most severe form of alpha-thalassemia, which is caused by deletion of all four α-globin genes (- -/- -), and therefore *Corresponding authors: Ming Chen, Department of Genomic Medicine, Changhua Christian Hospital, Changhua, Taiwan, Fax: 88647249847; E-mail: no α-globin is produced. As a result, γ- globin tetramers (Hb Bart’s) [email protected]; [email protected] become the dominant form of Hb and are responsible for carrying Received September 24, 2015; Accepted October 23, 2015; Published October 26, oxygen from mother to fetus. However, Hb Bart’s has a characteristic 2015 of extremely high oxygen affinity, which prevents oxygen release Citation: Wu WJ, Ma GC, Wu PC, Huang KS, Liu YL, et al. (2015) Lessons from the red blood cells to the tissue. This results in the occurrence Learned from Two Missed Prenatal Cases of Hemoglobin Bart’s Hydrops Fetalis of hydrops fetalis, stillbirth, or neonatal demise. Hence, it is critical Until Second Trimester Despite a Nationwide Screening Program. Genetics S7: 003. doi:10.4172/2161-1041.S7-003 to diagnose Hb Bart’s hydrops fetalis in early pregnancy as well as to identify high-risk groups for hereditary hemoglobinopathies. However, Copyright: © 2015 Wu WJ, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, despite the current nationwide preconceptional or prenatal screening distribution, and reproduction in any medium, provided the original author and source policies, not all pregnancies with Hb Bart’s disease can be detected in are credited. Hereditary Genetics Genetic Diseases ISSN:2161-1041 Genetics an open access journal Citation: Wu WJ, Ma GC, Wu PC, Huang KS, Liu YL, et al. (2015) Lessons Learned from Two Missed Prenatal Cases of Hemoglobin Bart’s Hydrops Fetalis Until Second Trimester Despite a Nationwide Screening Program. Genetics S7: 003. doi:10.4172/2161-1041.S7-003 Page 2 of 3 was within normal limits and peak systolic velocity of middle cerebral testing of α- and β-globin genes should be performed in addition to artery (MCA-PSV) was below 1.5 multiples of median (MoM). We electrophoresis as well as the survey for iron deficiency anemia. Below, performed amniocentesis and rechecked parental blood samples to we reviewed the current objective methods used to screening for Hb exclude the possibility of chromosome abnormality and intrauterine Bart’s hydrops fetalis, including CBC, Hb analysis and electrophoresis, infections. All of the tests were normal, but both of the parents showed genetic testing and ultrasound. Besides, we discussed the limitations of microcytic anemia (Mother: Hb: 10.6 g/dL, mean corpuscular volume each methodology (Table 1). (MCV): 69.5 fL; Father Hb: 11.6 g/dL, MCV: 69.0 fL). We highly suspected that the etiology of fetal ascites was Hb Bart’s disease. The Complete cell count DNA from the couple (from peripheral blood) and the fetus (from The commonest screening test for thalassemia is maternal CBC amniotic fluid) were thus sent for genetic testing. The results revealed that with red blood cell indices as it is easy to perform and readily available. SEA both parents are carriers of alpha-thalassemia (αα/- - ) and the fetus is a When MCV<80 fL or mean corpuscular hemoglobin (MCH)<25 case of Hb Bart’s hydrops fetalis (ζζ- -/ζζ- -). After non-directive genetic pg/cells in the absence of iron deficiency, it suggests the case would counseling and consultation of neonatal and pediatric hematological be carriers of alpha- or beta-thalassemia. Subsequent screening for specialists, the parents elected to terminate the pregnancy. husband’s red blood cell indices and further maternal Hb analysis Patient 2 are indicated to establish a diagnosis [4]. However, there is a small overlap with normal values in α+-thalassemia heterozygotes (αα/α-). A 28-year-old primigravida admitted into our hospital at GA 24+1 In addition, both iron deficiency anemia and beta-thalassemia are also weeks because of acute upper respiratory tract infection. The admission associated with mild to moderate microcytic anemia and frequently surveillance incidentally showed cardiomegaly (cardiothoracic ratio: result in incorrect diagnosis. Up to today, there is no optimal single 0.68). Reviewing her personal history, she was a victim of alpha- marker to discriminate iron deficiency anemia and thalassemia [5]. thalassemia trait. However, her husband was considered as a non- Thus, serial combined tests to exclude the possibility of iron deficiency carrier of alpha-thalassemia only by means of electrophoresis. No anemia and beta-thalassemia are required. Notably that the husband genetic testing was performed
Load more

Recommended publications
  • Diagnosis, Treatment and Follow Up
    DOI: 10.1002/jimd.12024 REVIEW International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up Ruqaiah Altassan1,2 | Romain Péanne3,4 | Jaak Jaeken3 | Rita Barone5 | Muad Bidet6 | Delphine Borgel7 | Sandra Brasil8,9 | David Cassiman10 | Anna Cechova11 | David Coman12,13 | Javier Corral14 | Joana Correia15 | María Eugenia de la Morena-Barrio16 | Pascale de Lonlay17 | Vanessa Dos Reis8 | Carlos R Ferreira18,19 | Agata Fiumara5 | Rita Francisco8,9,20 | Hudson Freeze21 | Simone Funke22 | Thatjana Gardeitchik23 | Matthijs Gert4,24 | Muriel Girad25,26 | Marisa Giros27 | Stephanie Grünewald28 | Trinidad Hernández-Caselles29 | Tomas Honzik11 | Marlen Hutter30 | Donna Krasnewich18 | Christina Lam31,32 | Joy Lee33 | Dirk Lefeber23 | Dorinda Marques-da-Silva9,20 | Antonio F Martinez34 | Hossein Moravej35 | Katrin Õunap36,37 | Carlota Pascoal8,9 | Tiffany Pascreau38 | Marc Patterson39,40,41 | Dulce Quelhas14,42 | Kimiyo Raymond43 | Peymaneh Sarkhail44 | Manuel Schiff45 | Małgorzata Seroczynska29 | Mercedes Serrano46 | Nathalie Seta47 | Jolanta Sykut-Cegielska48 | Christian Thiel30 | Federic Tort27 | Mari-Anne Vals49 | Paula Videira20 | Peter Witters50,51 | Renate Zeevaert52 | Eva Morava53,54 1Department of Medical Genetic, Montréal Children's Hospital, Montréal, Québec, Canada 2Department of Medical Genetic, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia 3Department of Human Genetics, KU Leuven, Leuven, Belgium 4LIA GLYCOLAB4CDG (International
    [Show full text]
  • Case Report Anesthetic Management of a Parturient with Mirror Syndrome: a Case Report
    Int J Clin Exp Med 2015;8(8):14161-14165 www.ijcem.com /ISSN:1940-5901/IJCEM0009837 Case Report Anesthetic management of a parturient with mirror syndrome: a case report Zhendong Xu, Yan Huan, Yueqi Zhang, Zhiqiang Liu Department of Anesthesiology, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai 200040, China Received May 3, 2015; Accepted June 23, 2015; Epub August 15, 2015; Published August 30, 2015 Abstract: Mirror syndrome is a rare clinical entity consisting of fetal and placental hydrops with maternal edema. It is associated with an increase in fetal mortality and maternal morbility. We describe the anesthetic management of a parturient with Mirror syndrome complicated by HELLP syndrome and massive postpartum hemorrhage, who required general anesthesia for cesarean delivery. Keywords: Anesthesia, mirror syndrome Introduction and severe edema of vulva for 1 week was admitted to our hospital at 31 weeks and four Mirror syndrome is a rare obstetric entity that days’ gestation. The patient’s body weight was occurs in pregnant women and is secondary to 54.5 kg and height was 158 cm. She had no fetal and placental hydrops. The name was significant medical history and was healthy derived from the maternal signs and symptoms before the pregnancy. The baby was conceived that “mirror” those of the hydropic fetus and naturally and the patient underwent regular placenta [1, 2]. Patients often also have hemo- prenatal examinations. Ultrasonography per- dilutional anemia, hypertension, hypoprotein- formed in the second semester revealed a sin- emia and pulmonary edema [1]. Mirror syn- gleton with normal fetal umbilical blood flow but drome is not yet well recognized in clinical prac- thickening of the right ventricular myocardium.
    [Show full text]
  • Mirror Syndrome After Fetoscopic Laser Treatment - a Case Report Síndrome Do Espelho Após Tratamento Laser Por Fetoscopia-Casoclínico
    THIEME 576 Case Report Mirror Syndrome after Fetoscopic Laser Treatment - A Case Report Síndrome do espelho após tratamento laser por fetoscopia-casoclínico Ana Maria Simões Brandão1 Ana Patrícia Rodrigues Domingues1 Etelvina Morais Ferreira Fonseca1 Teresa Maria Antunes Miranda1 José Paulo Achando Silva Moura1 1 Obstetrics Unit A, Maternidade Dr. Daniel de Matos, Centro Address for correspondence Ana Brandão, Medical Resident, Rua Hospitalar e Universitário de Coimbra (CHUC), Faculdade de Miguel Torga, 3030-165 Coimbra, Portugal Medicina, Universidade de Coimbra, Portugal (e-mail: [email protected]; [email protected]). Rev Bras Ginecol Obstet 2016;38:576–579. Abstract Mirror syndrome is a rare disease with unknown pathophysiology that can be present in different diseases that can cause fetal hydrops. The prognosis is usually bad with a high Keywords perinatal mortality. We report an unusual form of mirror syndrome that manifested ► mirror syndrome itself only after a successful treatment for fetal hydrops (caused by twin-twin ► fetoscopic laser transfusion syndrome, in Quinteros stage IV) was performed. This syndrome was treatment controlled by medical treatment, and despite the usually bad prognosis seen in these ► twin-twin transfusion cases, we could extend the pregnancy from the 23rd to the 34th week of gestation, syndrome resulting in the birth of 2 live infants. Resumo Asíndromedoespelhoéumadoençarara,defisiopatologia desconhecida, que se manifesta em situações obstétricas responsáveis pela presença de hidrópsia fetal. Habitualmente o prognóstico é reservado, uma vez que se associa a elevadas taxas de Palavras-chave mortalidade perinatal. O presente caso clínico trata de uma situação de síndrome do ► síndrome do espelho espelho que se manifestou, atipicamente, após o tratamento eficazparaahidrópsia ► tratamento a laser fetal associada à síndrome de transfusão feto-fetal.
    [Show full text]
  • Non-Immune Fetal Hydrops
    Non-Immune Fetal Hydrops (NIHF) MATY090 Type: Guideline HDSS Certification Standard: Issued by: Maternity PPG Group Version: 1 Applicable to: Maternity, Childrens, Radiology Contact person: O & G SMO Lead DHB: HVDHB Level: Hutt Maternity Policies provide guidance for the midwives and medical staff working in Hutt Maternity Services. Please discuss policies relevant to your care with your Lead Maternity Carer. Purpose: To provide guidance and a consistent approach for the accurate diagnosis and management of people and babies presenting with non-immune fetal hydrops in the Secondary Care setting. Scope: For the purposes of this document, staff will refer to: All staff within Hutt Valley DHB. This includes staff not working in direct contact with patients/consumers. Staff are taken to include anyone engaged in working to the Hutt Valley DHB. This may include but is not limited to: o Employees irrespective of their length of service o Agency workers o Self-employed workers o Consultants o Third party service providers, and any other individual or suppliers working in Hutt Maternity, including Lead Maternity Carers, personnel affiliated with third parties, contractors, temporary workers and volunteers o Students Definitions: SDP Single deepest pool SVT Supraventricular tachycardia SLE Systemic lupus erythematosus TTTS Twin-to twin-transfusion syndrome CPAM Congenital pulmonary airway malformation G6PD Glucose -6-phosphate dehydrogenase MCA Middle cerebral artery PSV Peak systolic velocity PTL Preterm labour TOP Termination of pregnancy Background Document author: O&G SMO Authorised by: Maternity PPG Group Issue date: May 2021 Review date: May 2023 Date first issued: May 2021 Document ID: MATY090 Page 1 of 6 CONTROLLED DOCUMENT – The electronic version is the most up to date version.
    [Show full text]
  • Department of Obstetrics, Gynecology, and Reproductive Sciences
    University of Pittsburgh School of Medicine DEPARTMENT OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE SCIENCES ANNUAL REPORT – ACADEMIC YEAR 2019 Tatomir, Shannon DEPARTMENT OF OBSTETRICS, GYNECOLOGY, AND REPRODUCTIVE SCIENCES UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE ANNUAL REPORT Academic Year 2019 July 1, 2018 – June 30, 2019 300 Halket Street Pittsburgh, PA 15213 412.641.4212 1 TABLE OF CONTENTS YEAR IN REVIEW MISSION STATEMENT ..................................................................................................................... 3 CHAIR’S ADDRESS ........................................................................................................................... 4 RECRUITMENTS ............................................................................................................................... 6 DEPARTURES ................................................................................................................................... 7 DEPARTMENT PROFESSIONAL MEMBERS ………………………………………………………………………………...8 DIVISION SUMMARIES OF RESEARCH, TEACHING AND CLINICAL PROGRAMS DIVISION OF GYNECOLOGIC SPECIALTIES .................................................................................... 11 DIVISION OF GYNECOLOGIC ONCOLOGY ..................................................................................... 24 DIVISION OF MATERNAL FETAL MEDICINE .................................................................................. 34 DIVISION OF REPRODUCTIVE ENDOCRINOLOGY AND INFERTILITY ...........................................
    [Show full text]
  • Sacrococcygeal Teratoma Associated with Maternal-Mirror Syndrome
    Bahrain Medical Bulletin, Vol. 41, No.3, September 2019 Sacrococcygeal Teratoma associated with Maternal-Mirror Syndrome Amal Ali Hassani, CABOG, Mmed, MPHE* Dalya Al Hamdan, MD** Fatema A. Redha Hasan, ABOG*** Sacrococcygeal Teratoma (SCT) is one of the most common congenital tumors in newborns. The majority of the cases are type I and II; therefore, the diagnosis of SCT is mostly made in prenatal period especially during second-trimester ultrasound. This is the first case reported in Bahrain of a pregnant lady in her 20th week of gestation, carrying a fetus with a rapidly growing tumor in its sacrococcygeal area. The woman developed a rare condition of severe pre-eclampsia, cardiomegaly, bilateral bronchopneumonia and pleural effusion suggestive of maternal mirror syndrome (MS). Early prenatal diagnosis of SCT with early detection of maternal mirror syndrome is extremely challenging. Bahrain Med Bull 2019; 41(3): 184 - 187 Sacrococcygeal teratoma (SCT) is considered one of the most The ultrasound had a provisional diagnosis of sacrococcygeal common congenital tumors in newborns. In a study review, mass of the fetus. The possibility of termination of pregnancy most of the cases showed benign nature irrespective of size, was raised due to the progressive growth of the mass up to age, Altman classification or age at diagnosis; recurrence rate is double the size of the fetus; the fundal height of 36 weeks was 11% after surgery1. SCT is originally a germ cell tumor (GCT) associated with polyhydramnios and placentomegaly. The which commonly occurs in infants and young children2. A patient reported having difficulty in passing urine for 5 days.
    [Show full text]
  • Mirror Syndrome: a Novel Cause of Shortness of Breath in the Third Trimester of Pregnancy
    Case Report Annals of Clinical Case Reports Published: 03 Apr, 2017 Mirror Syndrome: A Novel Cause of Shortness of Breath in the Third Trimester of Pregnancy Emilie J Calvello Hynes*1 and Rouda Nuaimi2 1Department of Emergency Medicine, University of Colorado, USA 2Department of Internal Medicine and General Surgery, Dubai Medical College, UAE Abstract Mirror syndrome is a rare association of fetal and placental hydrops with maternal pre-eclampsia and edema. We report a case of a 32 years old pregnant female at 28 weeks of gestation with hydrops fetalis who presented to our Emergency Department with severe shortness of breath, elevated blood pressure and bilateral lower limb edema. The patient underwent bedside ultrasound, which showed pulmonary edema and bilateral pleural effusions with normal cardiac function. The patient was diagnosed with Mirror Syndrome and underwent an emergency cesarean section delivery. The case illustrates a novel cause of shortness of breath in the third trimester that is an indication for emergent obstetric consult and delivery. Keywords: Mirror Syndrome; Preeclampsia; Hydrops fetalis; Edema Introduction Dyspnea during pregnancy is a common complaint; approximately 60% -70% of women will have dyspnea with no previous history of cardiopulmonary disease [1,2]. The mechanical effect of 20 the enlarging gravid uterus and the superior displacement of diaphragm, is counterbalanced OPEN ACCESS by hormonally induced increased excursion of the rib cage [1-4]. Progesterone mediated hyperventilation is thought to be due to the increased sensitivity of respiratory center to PaCO2, *Correspondence: which increases the minute ventilation and the tidal volume [2,3,5]. The pregnant woman Emilie J Calvello Hynes, Department subjectively perceives this hyperventilation as shortness of breath [5].
    [Show full text]
  • Prenatal Counseling Series Sacrococcygeal Tumors
    American Pediatric Surgical Association Prenatal Counseling Series Sacrococcygeal Tumors from the Fetal Diagnosis and Treatment Committee of the American Pediatric Surgical Association Editor-in-Chief: Ahmed I. Marwan, MD Special thanks to: Amanda Jensen, MD, Erin Perrone, MD, and Jill Stein, MD ©2018, American Pediatric Surgical Association American Pediatric Surgical Association Prenatal Counseling Series Sacrococcygeal Tumors Sacrococcygeal Tumors • Sacrococcygeal tumors (SCT) are one of the most common congenital neoplasms of the newborn period with a prevalence of 1:27-40,000 live births. • They arise from a totipotent stem cell in the coccyx (Henson’s node) and are generally benign in fetal and early neonatal life. • Incidence is 4 times more common in females. • Sacrococcygeal tumors are classified into four categories : • Complications related to prenatally diagnosed SCTs may include polyhydramnios, fetal cardiac failure, fetal hydrops, placentomegaly, maternal mirror syndrome, tumor hemorrhage and prematurity. • Prenatally diagnosed SCTs have 3 times the mortality rate compared to postnatally diagnosed neonates with a mortality rate ranging from 15-35%. • Approximately 15-30% have associated congenital defects including nervous, cardiac, gastrointestinal, genitourinary and musculoskeletal. • Local abnormalities such as rectovaginal fistula, urethro-vaginal fistula, urethral atresia and imperforate anus are directly related to tumor growth. 2 American Pediatric Surgical Association Prenatal Counseling Series Sacrococcygeal Tumors Sagittal MRI images of a fetus with a large pre sacral mass composed of mixed cystic and solid components. The majority of the mass is exophytic with a small component located within the pelvis (type 1). Color Doppler ultrasound image shows internal blood flow within the solid components of the mass.
    [Show full text]
  • Twin to Twin Transfusion Syndrome
    1529 Review Article on Fetal Surgery Twin to twin transfusion syndrome Jena L. Miller^ The Johns Hopkins Center for Fetal Therapy, Department of Gynecology and Obstetrics, Johns Hopkins University, Baltimore, MD, USA Correspondence to: Jena L. Miller, MD. Assistant Professor, The Johns Hopkins Center for Fetal Therapy, Department of Gynecology and Obstetrics, 600 N Wolfe St, Nelson 228, Baltimore, MD 21287, USA. Email: [email protected]. Abstract: Twin to twin transfusion syndrome (TTTS) is a common complication that typically presents in the second trimester of pregnancy in 10–15% of monochorionic twins due to net transfer of volume and hormonal substances from one twin to the other across vascular anastomoses on the placenta. Without recognition and treatment, TTTS is the greatest contributor to fetal loss prior to viability in 90–100% of advanced cases. Ultrasound diagnosis of monochorionicity is most reliable in the first trimester and sets the monitoring strategy for this type of twins. The diagnosis of TTTS is made by ultrasound with the findings of polyhydramnios due to volume overload and polyuria in one twin and oligohydramnios due to oliguria of the co-twin. Assessment of bladder filling as well as arterial and venous Doppler patterns are required for staging disease severity. Assessment of fetal cardiac function also provides additional insight into the fetal cardiovascular impacts of the disease as well as help identify fetuses that may require postnatal follow up. Fetoscopic laser ablation of the communicating vascular anastomoses between the twins is the standard treatment for TTTS. It aims to cure the condition by interrupting the link between their circulations and making them independent of one another.
    [Show full text]
  • Resolution of Maternal Mirror Syndrome After Succesful Fetal
    Chimenea et al. BMC Pregnancy and Childbirth (2018) 18:85 https://doi.org/10.1186/s12884-018-1718-0 CASE REPORT Open Access Resolution of maternal Mirror syndrome after succesful fetal intrauterine therapy: a case series Angel Chimenea1, Lutgardo García-Díaz1, Ana María Calderón1, María Moreno-De Las Heras1 and Guillermo Antiñolo1,2* Abstract Background: Mirror syndrome (MS) is a rare obstetric condition usually defined as the development of maternal edema in association with fetal hydrops. The pathogenesis of MS remains unclear and may be misdiagnosed as pre-eclampsia. Case presentation: We report a case series of MS in which fetal therapy (intrauterine blood transfusion and pleuroamniotic shunt) resulted in fetal as well as maternal favourable course with complete resolution of the condition in both mother and fetus. Conclusions: Our case series add new evidence to support that early diagnosis of MS followed by fetal therapy and clinical maternal support are critical for a good outcome. Keywords: Mirror syndrome, Ballantyne syndrome, Parvovirus B19, Hydrops fetalis, Fetal therapy Background pre-eclampsia, delaying diagnosis and therapy of MS and Mirror syndrome (MS) is a rare complication of fetal worsening fetal and maternal condition. MS does not hydrops appearing as a triple edema (fetal, placental as usually present with hypertension, but blood pressure can well as maternal) [1], in which the mother “mirrors” the be elevated and proteinuria can appear, resembling the hydropic fetus. This syndrome was first described in 1892 clinical features of pre-eclampsia [3, 16]. Like in pre- by the Scottish obstetrician John William Ballantyne [2]. eclampsia, laboratory findings may include proteinuria, There have been multiple feto-placental diseases related low platelet count and elevation of creatinine, hepatic to MS, that can be classified into diverse groups based on enzymes and uric acid levels [3].
    [Show full text]
  • Beating the Odds: a Case Report on the Successful Management of a Non-Immune Hydrops Fetalis Due to Hemoglobin Bart's Disease
    Beating the odds: A case report on the successful management of a non-immune hydrops fetalis due to hemoglobin Bart’s disease* By Maria Jane Ellise S. Javier, MD; Maria Rosario C. Cheng, MD, FPOGS and Marinella Agnes G. Abat, MD, FPOGS Department of Obstetrics and Gynecology, The Medical City ABSTRACT Hemoglobin Bart’s hydrops fetalis, characterized by a deletion of all four α-globin genes is the most severe and lethal form of Thalassemia disease. Mortality rate usually ranges from 60-100% of cases.1-5 Given the poor overall prognosis, most countries resort to pregnancy termination or expectant management as the only options to offer affected pregnancies.5 This paper presents a case of the successful management of a primigravid, diagnosed with hydrops fetalis at 29 4/7 weeks age of gestation. She delivered successfully to a live, preterm, baby boy who was later found out to have hydrops fetalis due to Hemoglobin Bart’s disease, and currently, continues to thrive past eight months of age. This report aims to improve the clinicians’ knowledge regarding the work up and management of pregnant patients diagnosed with hydrops fetalis, and increase the clinician’s awareness on the epidemiology, importance of targeted screening, and diagnosis of Alpha-Thalassemia in Filipino patients. Keywords: Alpha-Thalassemia, Hemoglobin Bart’s, Hydrops Fetalis, Philippines INTRODUCTION In the Philippines, over 5% of the population are carriers of α0-thalassemia trait1, characterized by ydrops fetalis is a serious fetal condition two α-gene deletion, and most often from the same characterized by abnormal accumulation of fluid chromosome (heterozygous α-thalassemia 1).
    [Show full text]
  • Mirror Syndrome - a Rare Case
    Volume 2- Issue 1 : 2018 DOI: 10.26717/BJSTR.2018.02.000687 Sukesh Kathpalia. Biomed J Sci & Tech Res ISSN: 2574-1241 Case Report Open Access Mirror Syndrome - A Rare Case Sukesh Kathpalia* Commandant, Military Hospital, Allahabad, India Received: January 19, 2018; Published: January 24, 2018 *Corresponding author: Sukesh Kathpalia, Commandant, Military Hospital, Allahabad, India, Email: Abstract Mirror syndrome is a maternal condition which develops as a result of fetal condition, the main feature being edema; both mother and fetus appear as mirror image of each other. Initially it was described as maternal edema in response to fetal edema due to Rhesus isoimmunisation. Subsequently it has been found in fetal hydrops due to both immune and non immune causes. The maternal condition is likely to improve after fetal treatment, demise or delivery. One case of mirror syndrome due to non immune hydrops is being presented who recovered completely after delivery. The cause of this syndrome is still not understood probably it is placental hypertrophy resulting in high hCG levels. Both mother and fetus are at risk in this condition. Keywords: Ballantyne syndrome; Fetal Hydrops, Preeclamsia Introduction essentially normal. Obstetrical examination showed fundal height Mirror syndrome is a maternal condition which develops as of 34 weeks (at gestation of 29 weeks) with abdominal wall edema. a result of fetal condition, the main feature being maternal and fetal edema. Both appear as mirror image of each other hence wall swelling. Fetal heart rate was normal. Her blood group was A Fetal parts were felt but with difficulty due to excessive abdominal Rh positive.
    [Show full text]