Novel autopsy and genetic findings in an acardiac twin: case report and literature review

ABSTRACT Twin reversed arterial perfusion (TRAP) sequence is a rare complication of monochorionic twinning whereby a donor twin perfuses an acardiac twin via aberrant vascular anastomoses. The resulting paradoxical retrograde blood flow supplying the acardiac twin is oxygen-poor, leading to some of the most severe malformations encountered in humans. Though the first descriptions of acardiac twins date back to at least the 16th century, the pathophysiologic processes which underpin the development of TRAP sequence are still being elucidated. Theories on the pathogenesis of TRAP sequence include deficiencies intrinsic to the embryo and primary abnormalities of the placental vasculature. Autopsy studies continue to provide clues to the underlying pathogenesis of TRAP sequence, and the characterization of the spectrum of manifestations that can be observed in acardiac twins. Herein, we present the clinical, autopsy, and molecular findings in a unique case of TRAP sequence. Novel findings include a primitive cloaca-like structure and chromosomal aberrations involving 6q11.1 and 15q25.1.

A case of amniotic band syndrome after fetal reduction by radiofrequency ablation / 中华围产医学杂志

This article reported a survived case of amniotic band syndrome (ABS) following fetal reduction by radiofrequency ablation. The woman conceived monochorionic diamniotic twin pregnancy spontaneously. Prenatal ultrasound at 24 weeks of gestation indicated twin-twin transfusion syndrome (stage Ⅲ), and radiofrequency ablation for fetal reduction was successfully performed after formal consent. At 28 +6 weeks, ultrasound reexamination revealed significant edema in the left foot of the fetus, with banding around the ankle, as well as the strangulation mark and narrowing rings. Fetal ABS (ⅡB stage) was diagnosed after multidisciplinary consultation. An immediate emergency cesarean section was performed and a live male baby was born. A thin amniotic band could be seen wrapping around the left ankle of the newborn for several rounds, with obvious strangulation marks about 1 cm deep into the skin, and significant edema on the dorsum and sole of the foot, and the submalleolus area. The amniotic band was released at once, and the edema faded gradually after surgery. After a follow-up of 28 days, the lower limbs of the newborn became normal.

Neurodevelopmental outcomes in twin-to-twin transfusion syndrome survivors at 12 months old after fetoscopic laser occlusion of chorioangiopagous vessels / 中华围产医学杂志

Objective:To investigate the risk factors for cerebral injury in survivors of twin-to-twin transfusion syndrome (TTTS) after fetoscopic laser occlusion of chorioangiopagous vessels(FLOC) and to analyze the neurodevelopmental outcomes at 12 months of corrected age.Methods:A total of 136 cases of TTTS receiving FLOC in the Third Affiliated Hospital of Zhengzhou University from May 2018 to August 2021 were retrospectively selected as the FLOC group, and the survivors were followed up. Neurological development at 12 months of corrected age was assessed using the Griffiths mental development scales-Chinese (GDS-C) from five dimensions with locomotor, personal-social, hearing and language, hand-eye coordination and performance subscales. Eighty-eight fetuses of TTTS pregnancies receiving expectant treatment or amniotic fluid reduction were selected as the non-FLOC group. The perinatal mortality and the incidence of cerebral injury in the two groups were compared, as well as the incidence of cerebral injury between patients undergoing Solomon surgery and selective laser surgery in the FLOC group. Generalized estimating equations were used to analyze the risk factors for neonatal cerebral injury after FLOC and the factors influencing general developmental quotient score at the corrected age of 12 months. Chi-square test, t-test, and Mann-Whitney U test were used for statistical analysis. Results:(1) The perinatal mortality rate in the FLOC group was lower than that in the non-FLOC group [14.7% (20/136) vs 26.1% (23/88), χ 2=4.50, P=0.034]. There was no statistical significance in the incidence of neonatal cerebral injury between the two groups [18.7% (23/123) vs 21.8% (17/78), χ 2=0.29, P=0.592], but the incidence of severe cerebral injury in the FLOC group was lower than that in the non-FLOC group [6.5% (8/123) vs 15.4% (12/78), χ 2=4.20, P=0.040]. (2) In the FLOC group, there was no significant difference in the incidence of cerebral injury between donors and recipients, or between Solomon surgery and selective laser surgery [16.4% (10/61) vs 21.0% (13/62), χ 2=0.42; 20.0% (9/45) vs 17.9% (14/78), χ 2=0.08; both P>0.05]. (3) Multivariate analysis showed that neonatal asphyxia ( OR=7.04, 95% CI: 1.45-34.20, P=0.016) and higher preoperative TTTS stage ( OR=2.05, 95% CI: 1.10-3.82, P=0.023) were risk factors for neonatal cerebral injury. (4) Fifty-two cases were successfully followed up at the corrected age of 12 months, and the incidence of developmental delay in at least one dimension was 34.6% (18/52). Developmental delay was mainly manifested in locomotor skills and language, accounting for 26.9% (14/52) and 11.5% (6/52). No significant difference in Z value was found between recipients and donors in each dimension (all P>0.05). Solomon surgery, larger gestational age at operation and low birth weight were related to low general developmental quotient score (95% CI:－11.71 to－0.23，－1.99 to－0.47，0.00-0.01，respectively，all P<0.05). Conclusions:The occurrence of cerebral injury in TTTS survivors after FLOC is related to preoperative TTTS staging and intrapartum neonatal asphyxia. Neurodevelopment of survivors is related to birth weight and gestational age at surgery, and there is a higher incidence of mild developmental delay at corrected age of 12 months.

Seguridad de la anestesia neuroaxial en mujeres con embarazo gemelar y síndrome de transfusión feto-fetal, sometidas a fotocoagulación láser. Estudio de cohorte retrospectiva / Safety of neuraxial anesthesia in patients twin pregnancy and twin-to-twin transfusion syndrome taken to laser photocoagulation. Retrospective cohort study

Objetivo: describir las características clínicas y la frecuencia de complicaciones maternas, fetales y neonatales, según técnica de anestesia neuroaxial (AN) en mujeres con síndrome de transfusión feto-fetal (STFF) tratadas con fotocoagulación láser (FL). Materiales y métodos: estudio de cohorte retrospectiva descriptivo. Se incluyeron gestantes con STFF tratadas con FL y AN en la Fundación Valle del Lili, Cali (Colombia) entre 2013-2017. Se excluyeron pacientes con STFF estadio-V de Quintero. Se usó estadística descriptiva. El protocolo fue aprobado por el Comité de Ética de la institución. Resultados: 32 participantes cumplieron con los criterios de inclusión y de exclusión. La población estuvo constituida por mujeres jóvenes, multíparas. En el 87,5% de los casos se realizó intervención de urgencia. El 43,7% presentaba el estadio-III de Quintero y en el 56,2 % de las gestantes se utilizó anestesia epidural. Las variables hemodinámicas maternas exhibieron un comportamiento similar, acorde al momento de la cirugía y la técnica neuoraxial implementada. El 65,6 % de las gestantes presentó hipotensión sostenida y el 9,3 % desarrolló edema pulmonar. El 65,6 % de las pacientes experimentó parto pretérmino y el 18,7 % ruptura prematura de membranas. Se registraron 14 muertes fetales y cinco neonatales. No se registraron casos de mortalidad materna. Conclusiones: en pacientes con STFF que requieren FL, el uso de la anestesia epidural, espinal o combinada probablemente se asocia con un comportamiento similar al de las variables hemodinámicas maternas, durante los momentos de la cirugía. Los profesionales que brindan atención a estas gestantes deben estar alerta ante la frecuente aparición de complicaciones maternas, fetales y neonatales. Se requieren estudios prospectivos que evalúen la seguridad y la efectividad de las diferentes técnicas de anestesia neuroaxial en pacientes con STFF.

Objective: To describe the clinical characteristics and the frequency of maternal, fetal and neonatal complications in accordance with the neuraxial anesthesia (NA) technique in women with twin-to- twin transfusion syndrome (TTTS) treated with laser photocoagulation. Materials and Methods: Descriptive retrospective cohort study of pregnant patients with TTTS treated with laser photocoagulation under NA at Fundación Valle del Lili, Cali (Colombia), between 2013-2017. Patients with Quintero stage VTTTS were excluded. The protocol was approved by the institutional ethics committee. Results: Of the participants, 32 met the inclusion and exclusion criteria. The study population consisted of young, multiparous women. Urgent interventions were performed in 87.5% of cases; 43.7% were Quintero stage III and epidural anesthesia was used in 56.2% of the women. Maternal hemodynamic variables were similar, in accordance with the timing of surgery and the neuraxial technique used. Sustained hypotension occurred in 65.6% of the pregnant women and 9.3% developed pulmonary edema. Pre-term delivery occurred in 65.6% of the patients and 18.7% had premature rupture of membranes. There were 14 fetal demises and five neonatal deaths. There were no cases of maternal mortality. Conclusions: In patients with TTTS requiring laser photocoagulation, the use of epidural, spinal or combined anesthesia is likely associated with similar maternal hemodynamic variables at the time of surgery. Practitioners providing care to these pregnant women must be aware of the frequent occurrence of maternal, fetal and neonatal complications. Prospective studies to assess the safety and effectiveness of the different neuraxial anesthesia techniques in patients with TTTS are required.

Gran feto acardio: diagnóstico tardío de gestacion gemelar monocorial biamniótica complicada por secuencia TRAP: reporte de un caso y revisión de la literatura / Great acardiac fetus: late diagnosis of monochorionic diamniotic twin pregnancy complicated by sequence TRAP: case report and review of the literature

OBJETIVOS: reportar el caso de una paciente con gestación gemelar monocorial-biamniótica complicada por secuencia TRAP que dio lugar al nacimiento de un feto bomba de 1932 gramos sin malformaciones anatómicas y de un feto acardio anceps de 1800 gramos, y realizar una revisión sobre esta patología y la importancia de su diagnóstico y tratamiento precoces. MATERIALES Y MÉTODOS: se presenta el caso de un feto acardio en una gestante con embarazo sin control estricto en el Hospital San Pedro de Logroño en el año 2019, de interés por su diagnóstico tardío y elevado peso al nacimiento del feto acardio. Se realizó una búsqueda de la literatura en las bases de datos Medline vía PubMed, OVID, Embase y SciE-LO con las palabras clave DeCS y términos MeSH. Como criterios de inclusión se consideraron artículos tipo series y reportes de casos y artículos de revisión desde enero de 1950 hasta enero de 2020. RESULTADOS: la búsqueda incluyó 39 referencias bibliográficas sobre las que se repasaron las principales cuestiones teóricas a exponer. El peso del feto acardio de nuestro caso fue muy elevado sin provocar repercusión en el feto sano, en comparación con la bibliografía, lo que aporta singularidad al caso, siendo sólo equiparable la serie de casos de Brassard et al (1999), con pesos de los fetos acardio por encima de 1700 gramos y diferenciándose en 100 gramos del feto bomba. CONCLUSIONES: el feto acardio es una complicación infrecuente de embarazos gemelares monocoriales. Se requiere la presencia de anastomosis vasculares placentarias entre ambas circulaciones. El diagnóstico precoz es importante para disminuir la morbilidad y usar, en la medida de lo posible, técnicas terapéuticas no invasivas.

OBJECTIVES: to report the case of a patient with a monochorionic-biamniotic twin gestation complicated by TRAP sequence that gave rise to the birth of a pump fetus without anatomical malformations (1932 g) and an acardiac anceps fetus (1800 g), and to review this pathology and the importance of its early diagnosis and management. MATERIAL AND METHODS: the case of an acardiac fetus is presented in a pregnant woman without strict control at the Hospital San Pedro de Logroño in 2019, worthwhile because of its late diagnosis and high birth weight. A search of the literature was carried out in the Medline databases via PubMed, OVID, Embase and SciELO with the MeSH terms. As inclusion criteria, we considered series-type articles and case reports, cohorts and review articles from January 1950 to January 2020. RESULTS: 39 bibliographic references were included with the main theoretical questions to be reviewed. Our acardiac fetus weight was very high comparing with the bibiography and without causing repercussion in the healthy fetus, which contributes to the uniqueness of the case, only the series report by Brassard et al (1999) is comparable, with weights of the acardiac fetus above 1700 grams and differing by 100 grams from the pump fetus. CONCLUSIONS: the acardiac fetus is an infrequent complication of monochorionic twin pregnancies. The presence of placental vascular anastomoses between both circulations is required. Early diagnosis is important to decrease morbidity and to use, as far as possible, non-invasive therapeutic techniques.

Twin-twin transfusion syndrome - a University Hospital experience with intrauterine treatment / Síndrome da transfusão feto-fetal - experiência de um hospital universitário com tratamento intrauterino

ABSTRACT Introduction: twin-to-twin transfusion syndrome (TTTS), defined by combination of polyhydramnios-oligohydramnios, is the most prevalent (5%-35%) of the abnormalities due to placental vascular anastomoses and the most lethal (80%-100% mortality) if untreated. Fetoscopic laser ablation of abnormal vasculature using the Solomon technique is the gold standard approach. It consists of interrupting the intertwin blood flow. Objectives: to present our initial experience at the Fetal Surgery Service of the Hospital de Clinicas of the Federal University of Parana (HC-UFPR) and to compare our results with those reported in the literature. Methods: we conducted a retrospective analysis of pregnancies who had undergone laser ablation, assessing data on Quintero's staging, gestational age at diagnosis and at the time of the procedure, placental position, immediate post-procedure survival, and survival after the neonatal period. We then compared these data with the most recent data available in the literature. Results: we analyzed ten TTTS cases. The diagnosis was performed before the 26th week of pregnancy (median 20.8 weeks) and treatment occurred in a median of 9.5 days later. The distribution by the Quintero's staging was of three cases in stage II, five in stage III, and two in stage IV. In 50% of the gestations, at least one of the fetuses survived through the neonatal period. Conclusion: the treatment of TTTS in the HC-UFPR had a positive impact in the survival of the affected fetuses, although the results were worse than the ones reported in the literature, probably due to the delay in referencing the patients to our service, leading to a prolonged interval between diagnosis and treatment.

RESUMO Introdução: a síndrome de transfusão feto-fetal (STFF), definida pela combinação polidrâmnio-oligohidrâmnio, é a mais prevalente (5 a 35%) das anormalidades associadas às anastomoses vasculares placentárias e tem a maior letalidade (80 a 100%) se não tratada. A ablação a laser destes vasos por via fetoscópica com a técnica de Solomon é o tratamento de escolha atual para a interrupção das anastomoses vasculares. Objetivo: apresentar a experiência inicial do Serviço de Cirurgia Fetal do Hospital de Clínicas da Universidade Federal do Paraná (HC-UFPR) e comparar nossos resultados com os da literatura. Métodos: foram revisados os prontuários de todas as pacientes submetidas ao procedimento de ablação a laser, sendo analisados os dados referentes ao estadiamento de Quintero, à idade gestacional ao diagnóstico e ao procedimento, à posição placentária, à sobrevida imediata pós-procedimento e sobrevida após o período neonatal. Os dados foram então comparados com os mais recentes disponíveis na literatura. Resultados: dez casos de STFF foram analisados. Todos diagnosticados antes da 26a semana (mediana 20,79) e o intervalo diagnóstico-tratamento teve mediana de 9,5 dias. A distribuição pelo estadiamento de Quintero foi: três casos no estádio II, cinco casos no III e dois casos no IV. Em 50% das gestações pelo menos um dos fetos sobreviveu ao período neonatal. Conclusão: o tratamento da STFF no HC-UFPR impactou positivamente a sobrevida dos fetos acometidos. Entretanto, nossos resultados estão aquém dos reportados na literatura, possivelmente pelo demora no referenciamento das pacientes, com intervalo aumentado entre diagnóstico e tratamento.

Pregnancy outcome and placental characteristics of twin-to-twin transfusion syndrome with different vascular patterns following fetoscopic laser surgery / 中华围产医学杂志

Objective:To evaluate the effect of different superficial vascular patterns on pregnancy outcome and residual anastomosis following laser coagulation in placentae with twin-to-twin transfusion syndrome (TTTS).Methods:This study retrospectively collected and analyzed the clinical data and postnatal placenta perfusion characteristics of 57 cases of TTTS who received fetoscopic laser occlusion of chorioangiopagous vessels (FLOC) and delivered at Peking University Third Hospital from April 2014 to April 2019. According to the vascular pattern, all the cases are divided into four groups, which were parallel, staggered, mixed, and monoamniotic groups. Differences in the operation time and method, pregnancy outcome, and residual vascular anastomosis between the four groups were compared using analysis of variance, non-parametric tests, and Chi-square (or Fisher's exact) tests. Results:Among the 57 cases, the staggered, mixed, parallel, and monoamniotic types were accounted for 68.4%(39/57), 15.8%(19/57), 14.0%(8/57), and 1.7%(1/57), respectively. After exclusion of one case of monoamniotic type, gestational weeks at onset and surgery in the parallel group were both later than the staggered and mixed groups [23.0 (22.0-26.3) weeks vs 21.0 (17.0-24.7) weeks and 22.6 (21.3-23.9) weeks, H=10.306, P=0.006; 25.0 (22.6-26.3) weeks vs 22.0 (17.4-24.9) weeks and 23.2 (22.4-24.0) weeks, H=9.926, P=0.007; all P'<0.016 7]. There was no statistical significance in the differences in operation time and method, gestational age at the end of the pregnancy, neonatal birth weight, or birth weight discordance between the three groups. The diameter of residual vascular anastomosis of women in the staggered group was less than that in the mixed group [0.6 (0.1-5.0) mm vs 1.4 (0.3-5.1) mm, P'<0.016 7], but no significant difference was observed in the parallel-group [0.9 (0.2-3.6) mm] neither with the mixed or staggered group. The staggered group was noted for an increased distance ratio of umbilical cord insertion compared with the parallel and the mixed group [0.66 (0.59-1.00) vs 0.49 (0.25-0.55) and 0.48 (0.42-0.53); P'<0.016 7]. There was no significant difference between the parallel and the mixed groups. Conclusions:Placental superficial vascular patterns may affect the residual vascular anastomosis in women with TTTS following FLOC, which should be thoroughly evaluated before the operation to develop an individual management plan to reduce residual anastomosis incidence.

Fetal therapies as standard prenatal care in Japan

With recent advances in fetal medicine, various attempts have been made to save fetuses facing perinatal death or devastating consequences despite optimal management after birth. The concept of the fetus as a patient has been established through the application of in utero treatments. This paper reviews fetal therapies in order to highlight the role of perinatal medicine as standard prenatal care. Fetal therapies consist of medical therapy, percutaneous ultrasound-guided surgery, fetoscopic surgery, and open fetal surgery. In the 1980s, with advances in ultrasound imaging, percutaneous ultrasound-guided surgeries such as vesicoamniotic shunting for lower urinary tract obstruction and thoracoamniotic shunting (TAS) for fetal hydrothorax (FHT) were started. In the 1990s, fetoscopic laser surgery (FLS) for twin-twin transfusion syndrome (TTTS) was introduced, and later, a fetoscopic approach for congenital diaphragmatic hernia was also established. The revival of open fetal surgery, introduced in the 1980s by pediatric surgeons, began in the 2010s after a successful clinical study for myelomeningocele. Although many fetal therapies are still considered experimental, some have proven effective, such as FLS for TTTS, TAS for primary FHT, and radiofrequency ablation (RFA) for twin reversed arterial perfusion (TRAP) sequence. These three fetal therapies have been approved for coverage by Japan National Health Insurance as a result of clinical studies performed in Japan. FLS for TTTS, TAS for primary FHT, and RFA for TRAP sequence have become standard prenatal care approaches in Japan. These three minimally invasive fetal therapies will help improve the perinatal outcomes of fetuses with these disorders.

Fetal anesthesia for twin-to-twin transfusion syndrome and fetal hydrothorax drainage: case report / Anestesia fetal para síndrome de transfusión gemelar y drenaje de hidrotórax fetal: reporte de caso

Abstract Fetal surgery in utero is an alternative for treatable congenital malformations. Prognosis will improve with early correction. Once the surgical technique is planned, the anesthetist's knowledge of maternal and fetal physiology is crucial for the selection of the ideal anesthetic technique for each individual case, considering the type of surgical procedure and the expected degree of fetal stimulation. In this way, the optimal surgical field with maternal and fetal safety will be ensured. This article describes 1 case of twin-to-twin transfusion syndrome under spinal anesthesia and sedation, and a second case of hydrothorax drainage under sedation.

Resumen La cirugía fetal in útero es una alternativa para las malformaciones congénitas tratables, su intervención temprana mejora el pronóstico del feto. Una vez planeada la técnica quirúrgica el conocimiento del anestesiólogo sobre la fisiología materna y fetal es fundamental, puesto que deberá determinar la técnica anestésica ideal acorde al contexto de cada caso considerando el tipo de procedimiento quirúrgico a realizarse y el grado de estimulación fetal esperado. De esta manera se asegura un campo quirúrgico óptimo ofreciendo seguridad materno fetal. En este artículo se describen dos casos: el primero síndrome de transfusión gemelar se realizó bajo anestesia raquídea y sedación, en el segundo caso de drenaje de hidrotórax bajo sedación.

Fetoscopia y fotocoagulación láser en el manejo del síndrome de transfusión feto fetal: serie de los primeros casos tratados en el Perú / Fetoscopy and laser photocoagulation in the treatment of twin-to-twin transfusion syndrome: series of cases treated in Peru

Twin-to-twin transfusion syndrome is a severe complication of twin monochorial pregnancies manifested with one hypovolemic fetus (donor) and another hypervolemic fetus (receiver). Perinatal mortality is about 90 to 100% if untreated. The accepted treatment is fetoscopy and selective laser photocoagulation of the placental shunts that connect both twins. Currently, this specialized procedure is only performed in our institution. We present the first cases of monochorionic twin pregnancy complicated with twin-to-twin transfusion syndrome that underwent laser photocoagulation and fetoscopy.

El síndrome de transfusión feto fetal es una complicación severa de los embarazos gemelares monocoriónicos, que fisiopatológicamente se manifiesta con un feto hipovolémico (donante) y un feto hipervolémico (receptor). Conlleva una mortalidad perinatal de 90 a 100% si no es tratado. El tratamiento aceptado es la fetoscopia y fotocoagulación láser selectiva de las anastomosis placentarias que conectan ambos gemelos, procedimiento especializado que se viene realizando solo en nuestra institución. Se presenta los primeros casos de gestación gemelar monocoriónica complicado con síndrome de transfusión feto fetal sometidos a fetoscopia y fotocoagulación laser.

Secuencia TRAP: serie de casos en el Hospital Regional de Alta Especialidad de la Mujer de Tabasco / TRAP sequence: Series of cases in Hospital Regional de Alta Especialidad de la Mujer de Tabasco

Resumen OBJETIVO: Reportar, comparar y analizar el estado posnatal de pacientes con embarazo gemelar monocorial y determinar la incidencia de secuencia TRAP. MATERIALES Y MÉTODOS: Estudio retrospectivo y descriptivo de una serie de casos de pacientes con diagnóstico de embarazo múltiple monocorial atendidas entre 2014 y 2018 en el Hospital Regional de Alta Especialidad de la Mujer de Tabasco. Se incluyeron todas las pacientes con diagnóstico de secuencia de perfusión arterial reversa gemelar con finalización del embarazo y reporte del estado posnatal. Se determinó la incidencia y se excluyeron las pacientes con expedientes incompletos y embarazos no concluidos en el Hospital Regional. RESULTADOS: Se encontraron 6 casos de embarazo gemelar monocorial con secuencia TRAP. De los casos reportados, 5 fueron gemelar doble y 1 de alto orden fetal. Solo 1 de los 6 casos recibió tratamiento intraútero. En 4 casos el gemelo bomba supervivió sin complicaciones reportadas. La incidencia de secuencia TRAP de embarazos monocoriales de la muestra de estudio fue de 5.2%. CONCLUSIÓN: Se expusieron 6 casos tratados de diferentes maneras y con mejores resultados con la conducta conservadora porque en los 4 casos que no recibieron tratamiento los gemelos bomba no sufrieron descompensaciones cardiacas y supervivieron, a diferencia del único caso con tratamiento intra-útero en el que hubo complicaciones que llevaron a la terminación del embarazo en el segundo trimestre.

Abstract OBJECTIVE: Report, compare and analyze the postnatal status of patients with monochorionic twin pregnancy and determine the incidence of TRAP sequence. MATERIALS AND METHODS: A descriptive, retrospective, case series study of patients diagnosed with monochorionic multiple pregnancy attended at the High Specialty Regional Women's Hospital of Tabasco between 2014 and 2018 was carried out. The study included all patients with the diagnosis of TRAP sequence, reported postnatal outcomes and the incidence was determined. Patients with incomplete records and unfinished pregnancies were excluded. RESULTS: Six cases of twin reversed arterial perfusion were diagnosed, five of which were twin pregnancies and one was a higher order multiple pregnancy. Only one of the patients received intra-uterine treatment. The pump twin survived without complications in four of the six cases. CONCLUSION: Six treated cases were exposed in different ways and with better results with the conservative behavior because in the 4 cases that did not receive treatment, the twin pump did not suffer cardiac decompensation and survived, unlike the only case with intra-uterine treatment in which there were complications that led to termination of pregnancy in the second trimester.

Predictive value of first-trimester ultrasound markers for complicated monochorionic diamniotic twins / 中华围产医学杂志

Objective@#To investigate the value of first-trimester ultrasound parameters in predicting complicated monochorionic diamniotic (MCDA) twins.@*Methods@#In this retrospective study, pregnant women diagnosed as MCDA twins by ultrasound in the First Affiliated Hospital of Sun Yat-sen University from January 2013 to January 2018 were recruited and divided into the following four groups: non-complicated MCDA twins group, twin-twin transfusion syndrome (TTTS) group, selective intrauterine growth restriction (sIUGR) group and twin anemia-polycythemia sequence (TAPS) group. Thickness of nuchal translucency (NT), crown-rump length (CRL), umbilical cord insertion (UCI) and ductus venosus (DV) flow at 11-14 weeks of gestation were recorded. The predictive value for complicated MCDA twins was analyzed using t-test, Chi-square (or Fisher's exact) test, multivariate logistic regression analysis and receiver operating characteristic (ROC) curve.@*Results@#(1) A total of 430 MCDA twin pregnancies were included in this study with 152 in the TTTS group, 142 in the sIUGR group, seven in the TAPS group and 129 in the normal MCDA twins group. No further analysis was performed on the TAPS group due to the small sample size. (2) NT discordance in twins of the TTTS group was significantly greater than that in the normal MCDA twins group[(21.5±16.0)% vs (14.6±13.5)%, t=-3.533, P<0.001]. The area under ROC curve (AUC) of TTTS predicted by NT discordance was 0.649. Stratified analysis showed that TTTS was best predicted when NT discordance was 20% with the sensitivity of 57.9% and specificity of 70.6%. (3) The sIUGR group had greater discordance in CRL and NT and higher UCI discordance than the normal MCDA twins group [NT: (27.8±21.3)% vs (14.6±13.5)%, t=-5.556, P<0.001; CRL: (8.6±6.9)% vs (5.4±4.4)%, t=-3.144, P=0.002; UCI: 47.9% (68/142) vs 13.9% (18/129), χ2=35.929, P<0.001]. The AUC of sIUGR was 0.675 predicted by NT discordance and 0.649 by CRL discordance. Stratified analysis showed that NT discordance of 20% and CRL discordance of 10% were the best prediction for sIUGR with the sensitivity of 53.1% and 34.7% and specificity of 72.1% and 83.8%, respectively. Multivariate logistic regression analysis suggested that UCI discordance was the risk factor for sIUGR (OR=7.165, 95%CI: 2.637-19.472).@*Conclusions@#MCDA twins with NT discordance greater than 20% during early pregnancy are at increased risk for TTTS. CRL discordance greater than 10%, NT discordance greater than 20% and abnormal UCI are risk factors for sIUGR.

Predictive value of first-trimester ultrasound markers for complicated monochorionic diamniotic twins / 中华围产医学杂志

Objective To investigate the value of first-trimester ultrasound parameters in predicting complicated monochorionic diamniotic (MCDA) twins. Methods In this retrospective study, pregnant women diagnosed as MCDA twins by ultrasound in the First Affiliated Hospital of Sun Yat-sen University from January 2013 to January 2018 were recruited and divided into the following four groups: non-complicated MCDA twins group, twin-twin transfusion syndrome (TTTS) group, selective intrauterine growth restriction (sIUGR) group and twin anemia-polycythemia sequence (TAPS) group. Thickness of nuchal translucency (NT), crown-rump length (CRL), umbilical cord insertion (UCI) and ductus venosus (DV) flow at 11-14 weeks of gestation were recorded. The predictive value for complicated MCDA twins was analyzed using t-test, Chi-square (or Fisher's exact) test, multivariate logistic regression analysis and receiver operating characteristic (ROC) curve. Results (1) A total of 430 MCDA twin pregnancies were included in this study with 152 in the TTTS group, 142 in the sIUGR group, seven in the TAPS group and 129 in the normal MCDA twins group. No further analysis was performed on the TAPS group due to the small sample size. (2) NT discordance in twins of the TTTS group was significantly greater than that in the normal MCDA twins group[(21.5±16.0)% vs (14.6±13.5)%, t=－3.533, P<0.001]. The area under ROC curve (AUC) of TTTS predicted by NT discordance was 0.649. Stratified analysis showed that TTTS was best predicted when NT discordance was 20% with the sensitivity of 57.9% and specificity of 70.6%. (3) The sIUGR group had greater discordance in CRL and NT and higher UCI discordance than the normal MCDA twins group [NT: (27.8±21.3)% vs (14.6±13.5)%, t=－5.556, P<0.001; CRL: (8.6±6.9)% vs (5.4±4.4)%, t=－3.144, P=0.002; UCI: 47.9% (68/142) vs 13.9% (18/129), χ2=35.929, P<0.001]. The AUC of sIUGR was 0.675 predicted by NT discordance and 0.649 by CRL discordance. Stratified analysis showed that NT discordance of 20% and CRL discordance of 10% were the best prediction for sIUGR with the sensitivity of 53.1% and 34.7% and specificity of 72.1% and 83.8%, respectively. Multivariate logistic regression analysis suggested that UCI discordance was the risk factor for sIUGR ( OR=7.165, 95% CI : 2.637-19.472). Conclusions MCDA twins with NT discordance greater than 20% during early pregnancy are at increased risk for TTTS. CRL discordance greater than 10%, NT discordance greater than 20% and abnormal UCI are risk factors for sIUGR.

Monochorionic diamnionic twins: a study of perinatal outcomes / 中国新生儿科杂志

Objective To study the perinatal outcomes of monochorionic diamnionic ( MCDA ) twins.Method A retrospective study had been conducted to analyze the outcomes of MCDA twins delivered in Hospital from Jan 2011 to Dec 2012.According to whether complicated with twin to twin transfusion syndrome ( TTTS, n=14 ) and/or selective intrauterine growth restriction ( sIUGR, n=41 ) , the infants enrolled in the study were assigned into complicated group (n=55) and uncomplicated group (n=90).The infants with sIUGR were further subdivided into three groups .The outcomes of the neonates were compared between the groups.Result A total of 145 pairs of MCDA twins were delivered , 285 neonates (12 of them died after birth ) and 5 cases of stillbirth. The gestational age at delivery in complicated group were significantly lower than those in uncomplicated group (33.8 ±2.8weeks vs.35.5 ±1.6weeks, P<0.001);The birth weight in complicated group ( the birth weight of the bigger baby was 2072 ±460 g vs.2520 ± 383 g, the smaller one 1620 ±477 g vs.2320 ±373 g ) were significantly lighter than those in uncomplicated group;The incidence of fetal death in complicated MCDA twin pregnancies (7.3% vs.0) was significantly higher than controls .Neonatal outcomes of fetuses complicated with sIUGRⅠ ( n=23 ) were similar to controls.Neonates complicated with TTTS, sIUGRⅡ(n =6) or sIUGRⅢ (n =12) had significantly increased incidence of respiratory distress syndrome , asphyxia, cardiac disorders, retinopathy of prematurity and neonatal death compared with controls .Conclusion Neonates of MCDA with TTTS or sIUGR had more complications compared with uncomplicated MCDA twins .The fetuses with abnormal umbilical artery Doppler blood flow are more vulnerable to stillbirth , neonatal death and other serious adverse outcomes .

Postoperative outcomes of twin-twin transfusion syndrome complicated with selective intrauterine growth restriction / 中华围产医学杂志

Objective To evaluate the efficacy of fetoscopic laser occlusion of chorioangiopagous vessels (FLOC) in treatment of twin-twin transfusion syndrome (TTTS) and to investigate the incidence of TTTS complicated with selective intrauterine growth restriction (sIUGR) for better understanding the effects of sIUGR as a complication of TTTS on pregnancy outcomes. Methods A retrospective study was performed on 116 gravidas who were diagnosed with TTTS of Quintero stage Ⅰ - Ⅳ in Peking University Third Hospital from September 2008 to September 2014. Among them, 44 cases received FLOC therapy. The incidences of sIUGR in each Quintero stage of TTTS were analyzed. Pregnancy outcomes of those 44 cases treated with FLOC were observed and the differences among four stage groups were analyzed. Chi-square or Fisher exact test was performed for statistical analysis. Results (1) The survival rates of both twins from stage Ⅰ to Ⅳ groups were 4/7, 10/14, 5/19 and 3/4, respectively, with statistically significant difference (χ2=7.840, P=0.038), but that in stage Ⅲ group was lower than in stage Ⅱ group without significant difference (P'=0.008). Differences in the total fetal survival rate among the four groups were statistically significant [8/14, 75% (21/28), 32% (12/38) and 6/8, χ2=14.016, P=0.002]. The total fetal survival rate in stage Ⅲ group was significantly lower than that in stageⅡ group (P'<0.008). In patients with stage Ⅲ TTTS, those complicated with sIUGR, after receiving FLOC therapy, showed a lower total fetal survival rate than those without sIUGR [21% (6/28) vs 6/10, P<0.05]. (2) Among the 116 TTTS patients, there were 63 cases (54%) with sIUGR complication. Patients with sIUGR complication in TTTS stages Ⅰ to Ⅳ groups accounted for 40% (14/35), 48% (11/23), 78% (28/36) and 46% (10/22), respectively, and the differences were significant (χ2=11.963,P=0.007). The incidence of sIUGR in stage Ⅲ group was greater than that in stage Ⅰ group (χ2=10.482, P'=0.002), and those in both stage Ⅲ and Ⅱ groups were higher than in stage Ⅰgroup without significant difference. Conclusions TTTS patients in stage Ⅲ have lower survival rate of both twins and total fetal survival rates after FLOC therapy, which may be related to a higher incidence of concurrent sIUGR.

Fetoscopic laser photocoagulation in twin-to-twin transfusion syndrome: experience from a single institution

<p><b>INTRODUCTION</b>Twin-to-twin transfusion syndrome (TTTS) is the most common serious complication of monochorionic (MC) twin pregnancies, with perinatal mortality rates of up to 90% if untreated. This study aimed to review the perinatal and perioperative outcomes of MC twin pregnancies treated for TTTS by fetoscopic laser photocoagulation (FLP) since its introduction at KK Women's and Children's Hospital (KKH), Singapore, in 2011.</p><p><b>METHODS</b>This was a retrospective review of five consecutive patients who underwent FLP of placental anastomoses for TTTS at KKH from June 2011 to March 2014. FLP was offered to patients who were diagnosed with TTTS of at least Quintero Stage II before 26 weeks of gestation. The main outcome measures were perioperative complications and perinatal survival rates.</p><p><b>RESULTS</b>Five sets of MC twin pregnancies underwent FLP during the study period - three pregnancies were diagnosed with Stage III TTTS and two pregnancies with Stage II TTTS. Median gestational ages at initial presentation, laser photocoagulation and delivery were 19 (range 17-20) weeks, 20 (range 19-23) weeks and 29 (range 28-34) weeks, respectively. One patient had bleeding into the amniotic cavity intraprocedurally. Overall, the perinatal survival rate, double-infant survival rate and survival rate for at least one twin were 60% (6/10 fetuses), 40% (2/5 twins) and 80% (4/5 twins), respectively.</p><p><b>CONCLUSION</b>FLP is a feasible treatment for TTTS, with minimal maternal complications. Perinatal survival rates of this patient group that was managed at our centre were comparable to those of international centres.</p>

Síndrome de Transfusión Feto Fetal / Twin-to-Twin Transfusion Syndrome

RESUMEN El Síndrome de Transfusión Feto Fetal es una de las complicaciones más severas de los embarazos múltiples que amerita seguimiento estricto y tratamiento oportuno según las características de la patología en cada caso. Esta patología se presenta como una condición de fetos productos de embarazo múltiple monocorial, quienes tienen genotipos idénticos pero adoptan fenotipos cardiovasculares discordantes a consecuencia del desequilibrio en el flujo; esto debido a las múltiples anastomosis placentarias que suelen desarrollarse entre los fetos. Expertos en perinatología han abordado el tema y han postulado diversas alternativas diagnósticas y terapéuticas, por lo cual es fundamental conocer las consideraciones para abordar pacientes con dicha entidad patológica y brindar consulta oportuna a las madres afectadas. A continuación se presenta una revisión de la literatura acerca del Síndrome de Transfusión Feto Fetal enfocado hacia las características de presentación, reseñas epidemiológicas, criterios y métodos diagnósticos así como las alternativas terapéuticas desarrolladas para la disminución y manejo de las complicaciones. MÉD.UIS. 2016;29(3):61-71.

ABSTRACT Twin to Twin Transfusion Syndrome is one of the most serious complications on multiple pregnancy which deserves a strict monitoring and appropriated treatment according to the characteristics of the pathology in each case presented. This pathology is presented as a condition in foetus from multiple monchorionic pregnancies which have identical genotypes, but they adopt discordant cardiovascular phenotypes as a consequence of the disorder in the discharge due to multiple placental anastomoses usually developed between the foetuses. Perinatology experts have approached this topic and they have postulated different diagnostic and therapeutic alternatives, so it is fundamental to know the considerations to aboard patients with the above mentioned clinical condition and provide a timely consultation to the affected mothers. Below, it is presented a revision on different literature about Twin to Twin Transfusion Syndrome focused on the characteristics of its presentation, epidemiological reviews, criteria and methods of diagnosis as well as the therapeutic alternatives developed for the management of its complications and a summary of progress regarding post intervention prospective studies which demonstrate progress in terms of survival and neurological involvement in the twin survivors. MÉD.UIS. 2016;29(3):61-71.

Síndrome de transfusión feto-fetal con riñón único ectópico en gemelar donante. Presentación de un caso / Syndrome of Fetus-fetal transfusion with a single ectopic kidney in a twin donor. Case presentation

El síndrome de transfusión feto-fetal se presenta con mayor frecuencia en los embarazos gemelares monocoriales biamnióticos. En etapas avanzadas y sin una intervención prenatal, se asocia a altas tasas de mortalidad perinatal y de secuelas neurológicas en los sobrevivientes. Se presenta el caso de una pareja de gemelares con depresión severa al nacer, en los que se planteó un síndrome de transfusión feto-fetal, confirmado posteriormente con la presencia de anemia en el gemelo donante y policitemia en el gemelo receptor. Ambos gemelos tuvieron una evolución desfavorable hasta llegar a la muerte neonatal precoz. Los hallazgos de la necropsia fueron compatibles con daños secundarios al síndrome, con la particularidad de que en ambos hubo evidencias de infección pulmonar, y de una malformación renal en el gemelo donante, la cual no se recoge entre las malformaciones propias de este síndrome. El objetivo de este trabajo es puntualizar en los elementos esenciales para el diagnóstico y tratamiento antenatal de esta enfermedad, a través de las peculiaridades del caso que se presenta.

The Syndrome of Fetus-fetal transfusion presents more frequently in dynamitic monochromic twins. In advanced stages and without prenatal intervention, is associated to high rates of peri natal mortality and neurological sequel in the survivors. It is presented a case of a pair of twins with severe depression at birth in which it was diagnosed a Syndrome of Fetus-fetal, later confirmed with the presence of anemia in the donor twin and polycythemia in the receptor twin. Both twins had an unfavourable evolution with an early neonatal death. Necropsy findings were comparable with secondary damage to the syndrome, with the particularity that both had evidences of pulmonary infection and a renal malformation in the donor twin which is not included in the proper malformations of this syndrome. The objective of this work is to point out the essential elements for the diagnosis and antenatal treatment for this disease through the peculiarities of the presented case.

Twin-twin transfusion syndrome: neurodevelopment of infants treated with laser surgery / Síndrome de transfusão feto-fetal: neurodesenvolvimento de lactentes tratados com cirurgia a laser

ABSTRACT Objective To assess the neurodevelopmental functions of survivors of twin-twin transfusion syndrome (TTTS) treated by fetoscopic laser coagulation (FLC), during the first year of life, comparing them to a control group; and to verify the influence of specific variables on neurodevelopment. Method This was a prospective, longitudinal study. The sample comprised 33 monochorionic diamniotic twins who underwent FLC for treatment of TTTS and 22 full-term infants of single-fetus pregnancies. Bayley Scales of Infant and Toddler Development Screening Test were used for evaluation. Prenatal, perinatal and postnatal information were obtained. Results There was an increased frequency of infants in the TTTS group with inadequate performance compared to the control group. The identified variables (fetal donor, low economic income and cardiorespiratory disease) negatively impacted expressive communication and fine motor skills. Conclusion Although through follow-up is recommended in all TTTS survivors, particular attention is required for the high-risk group as defined in this study.

RESUMO Objetivo Avaliar o desenvolvimento neurológico de sobreviventes da sindrome de transfusão feto-fetal (STFF) submetidos à coagulação a laser por fetoscopia (CLF), durante o primeiro ano de vida, comparando estes ao grupo controle; e verificar a influência de variáveis específicas no desenvolvimento. Método Tratou-se de estudo prospectivo, longitudinal. A amostra foi composta por 33 gêmeos diamnióticos monocoriônicos submetidos à CLF para tratamento da STFF e 22 lactentes a termo de gestação única. Bayley Scales of Infant and Toddler Development Screening Test foram utilizadas para avaliação. Informações pré-natal, perinatal e pós-natal foram coletadas. Resultados Houve maior número de lactentes com desempenho inadequado no grupo STFF do que no controle. As variáveis identificadas (feto doador, baixa renda econômica e doença cárdio-respiratória) influenciaram negativamente a comunicação expressiva e as habilidades motoras finas. Conclusão Embora o acompanhamento seja recomendado para todos lactentes com STFF, especial atenção deve ser dada àqueles que apresentam fatores de risco.

Síndrome de transfusión feto fetal: una mirada global a la enfermedad / Fetofetal transfusion syndrome: a comprehensive look at the disease / Síndrome de transfusão feto no feto: um olhar mais abrangente sobre a doença

Introducción: El síndrome de transfusión feto- feto es una enfermedad compleja producida aproximadamente en 15% de los embarazos monocoriales; a pesar de su baja incidencia, su importancia radica en las graves complicaciones perinatales. Su fisiopatología está basada en el proceso por el cual los gemelos comparten las dos circulaciones a través de vasos sanguíneos anómalos, con posterior alteración hemodinámica del gemelo receptor y donante. El diagnóstico es primordialmente ecográfico y su tratamiento definitivo actual, consiste en estrategias in útero realizadas con el fin de ubicar y sellar los vasos, proporcionando una circulación individual, buscando contrarrestar su mal pronóstico, que puede llegar a una mortalidad de hasta un 100% en aquellos sin tratamiento. Objetivo: Realizar una revisión de la literatura sobre el síndrome de transfusión feto - feto abarcando una actualización en los diferentes componentes que incluyen: epidemiología, fisiopatología, avances en Diagnóstico clínico y tratamiento. Metodología: Se hizo una búsqueda en bases de datos como PubMed, Cochrane, Sciencedirect y Google académico; se encontraron 78 artículos, de los cuales finalmente cumplieron con los criterios de actualización, pertinencia y calidad 32 artículos; se revisó fisiopatología, diagnóstico y tratamiento. Se descartaron artículos que no cumplían con criterios de inclusión. Resultados: Se seleccionó la información más actualizada y completa de las bases de datos encontradas, respecto a clasificación, etiología, fisiopatología, diagnóstico, tratamiento y pronóstico. Conclusiones: El síndrome de Transfusión Feto-Feto consiste en un desbalance hemodinámico de anastomosis placentarias, niveles aumentados de vasopresina y finalmente cambios en el eje renina angiotensina aldosterona, que requiere un diagnóstico temprano con tratamiento oportuno para mejorar el pronóstico y prevenir complicaciones fetales.

Introduction: Fetofetal transfusion syndrome is a complex disease produced in about 15% of monochorionic pregnancies, despite its low incidence, its importance lies in its serious perinatal complications. Its pathophysiology is based on the process in which twins share the two circulations through abnormal blood vessels, with a subsequent hemodynamic alteration of the receptor twin and donor twin. Its diagnosis is primarily with an ultrasound scan and its current definitive treatment consists in-utero strategies performed in order to locate and seal the vessel, providing a single movement, seeking to counteract its poor prognosis, which can lead to a mortality rate of up to 100% in those patients without treatment. Objective: To review the literature about fetofetal transfusion syndrome, covering an update about various components including epidemiology, pathophysiology, clinical advances in its clinical diagnosis and treatment. Methodology: A search was conducted in databases such as PubMed, Cochrane, Sciencedirect and Google scholar and 78 articles were found, but only 32 of them finally achieved the criteria for updating, relevance and quality; also the pathophysiology, diagnosis and treatment were revised in each one. The articles that did not fulfill the inclusion criteria were discarded. Outcomes: The most updated and comprehensive information found in databases was selected according to its classification, etiology, pathophysiology, diagnosis, treatment and prognosis. Conclusions: Fetofetal transfusion Syndrome is a hemodynamic imbalance of placental anastomosis, increased levels of vasopressin and finally, changes in the renin angiotensin aldosterone axis, which requires an early diagnosis and treatment to improve the prognosis and prevent fetal complications.

Introdução: A doença de transfusão feto-fetal é complexa e aproximadamente 15% das gestações monocoriônicas, padece deste síndrome, embora a incidência seja baixa, sua importância esta nas complicações perinataies. A sua patofisiologia baseia-se no processo pelo qual os gêmeos partilham duas circulações através de vasos sanguíneos anormais, com alteração na hemodinâmica subsequente do gêmeo receptor como do doador. Seu diagnóstico é ultrassonográfico e atualmente o seu tratamento consiste em realizar as estratégias uterinas para localizar e selar os vasos, a fim de cambiar o seu mau prognóstico, caso contrário pode ocasionar a norte até de 100% dos pacientes. Objetivo: Revisar a literatura, sobre el síndrome de transfusão feto – feto, incluindo uma atualização nos diferentes componentes como epidemiologia, fisiopatologia, avanços clínicos no diagnóstico e tratamento. Metodologia: se investigou a base de dados como PubMed, Cochrane, Sciencedirect e Google acadêmico, entre os 78 artigos pesquisados, 32 apresentaram os criterios de atualização, pertinência e qualidade científica, também foi revisto fisiopatologia, diagnóstico e tratamento. Se descartaram, os artigos que não continham os critérios requeridos. Resultados: se escolheu a informação mais atualizada e completa da base de datos pesquisada, com relação à classificação, etiologia, fisiopatologia, diagnóstico, tratamiento e pronóstico.