The cases of twins with sialidosis type 1 / 中华神经科杂志

Sialidosis is a rare lysosomal storage disease caused by NEU1 gene mutation at 6p21.33. It is characterized by myoclonic, ataxia, epilepsy, and decreased vision. A pair of twins with sialidosis type 1 are reported to enrich clinicians ′ understanding of the disease, so as to improve the diagnosis and treatment. The proband was a 16-year-old male. The main symptom was intermittent limb involuntary trembling for 2 years, with paroxysmal loss of consciousness. Fundus examination showed cherry-red spots. His twin brother had similar symptoms, but the overall performance was mild. Whole exome sequencing results showed that both patients carried compound heterozygous mutations of c.239C>T (p.P80L) and c.803A>G (p.Y268C) in NEU1 gene, which were from their normal phenotype mother and father.

Prenatal genetic features and prognostic factors in monochorionic twins with twin reversed arterial perfusion sequence / 中华围产医学杂志

Objective:To investigate the prenatal genetic features and the factors influencing the prognosis of twin reversed arterial perfusion sequence (TRAPS) in monochorionic twin pregnancies.Methods:A total of 99 cases diagnosed with TRAPS by prenatal ultrasound in the First Affiliated Hospital of Sun Yat-sen University from July 1, 2007, to December 31, 2021, were included retrospectively. The prenatal genetic features of acardiac and pump twins were analyzed. Eighty-nine cases were followed up and divided into two groups: the expectation group ( n=45) and the intrauterine intervention group (all underwent radiofrequency ablation, n=44) and the pregnancy outcomes were compared between the two groups. After excluding eight cases without complete ultrasound data, the expectation group was further divided into two subgroups: the pump fetus survival ( n=28) and the pump fetus death groups ( n=9), and the survival subgroup was divided into the spontaneous arrest group ( n=16) and coexistence group ( n=12) according to whether or not the blood flow stopped spontaneously.The relationship between ultrasonic indexes and pregnancy outcome was compared between the groups. Chi-square test (or Fisher's exact test), univariate logistic regression analysis and receiver operating characteristic (ROC) curve were used to analyze the relationship between the estimated acardiac to pump twin weight ratio (A/P Wt) and the pregnancy outcome of the pump twin in the expectation group. Results:(1) The median gestational age at diagnosis of the 99 TRAPS cases was 16.4 weeks (13.3- 21.3 weeks) and 32% (32/99) were diagnosed in the first trimester. Most of the cases were monochorionic diamniotic pregnancies (72/99, 73%). The survival rate of the pump twins was 71% (63/89). (2) Chromosome karyotyping and/or chromosomal microarray analysis was performed in 19 acardiac twins and 82 pump twins. The detection rate of genetic abnormalities in the acardiac twins was higher than that in the pump twins [4/19 vs 5% (4/82), Fisher's exact test, P=0.039]. Chromosomal microarray analysis was performed in 54 pump twins with normal karyotypes and the results showed three (6%) with genetic abnormalities. (3) In the expectation group, the area under ROC curve for the prenatal A/P Wt were 0.913 in predicting pump twin death and 0.807 in predicting spontaneous cessation of blood flow in the cardiac twin, and the cut-off values were 0.24 (sensitivity: 88.9%, specificity: 96.4%) and 0.11 (sensitivity: 75.0%, specificity: 81.3%), respectively. The survival rate of pump twins with abnormal cardiac function after intrauterine intervention was higher than that of the expectant group [72% (18/25) vs 3/11, Fisher's exact test, P=0.025]. Conclusions:TRAPS can be diagnosed in the first trimester and commonly occur in monochorionic diamniotic pregnancies. The detection rate of genetic abnormalities in the acardiac twins is higher than that in the pump twins. Prenatal A/P Wt>0.24 indicates the death of the pump twin and prenatal A/P Wt≤0.11 suggests a high possibility of spontaneous cessation of blood flow in the acardiac twin. Radiofrequency ablation is an effective method for improving the prognosis of the pump twin with cardiac dysfunction.

Outcome of twin fetuses with selective fetal growth restriction / 中华围产医学杂志

Selective fetal growth restriction (sFGR) occurs in about 10% to 15% of monochorionic twins with a high incidence of intrauterine fetal death and low gestational age at birth. sFGR is associated with multisystem adverse prognosis, including brain injury, myocardial hypertrophy, right ventricular outflow tract obstruction, intestinal perforation, and abnormal insulin secretion. sFGR can be classified into three types based on the umbilical artery Doppler waveforms under ultrasound. The clinical characteristics and prognosis vary with the different types. There are few reported studies on the sFGR population, and comprehensive, long-term follow-up is needed.

Manejo del síndrome de transfusión feto fetal en gestaciones gemelares monocoriales / Management of Fetal Fetus Transfusion Syndrome in Monochorionic Twin Gestations

El síndrome de transfusión feto fetal es una complicación grave de las gestaciones gemelares monocoriales. Su etiología se debe a la transfusión crónica de sangre del feto donante, al feto receptor, a través de las anastomosis vasculares entre los territorios placentarios de ambos. El cuadro clínico característico se evidencia en ambos fetos, receptor y donante, lo cual es consecuencia directa de las alteraciones en la volemia que padece cada uno. En el feto receptor se observa un polihidramnios relacionado con la poliuria derivada de un estado de hipervolemia constante, que acaba evolucionando hacia una insuficiencia cardiaca congestiva. En el feto donante el cuadro es inverso, caracterizado por oligoamnios, oliguria, crecimiento intrauterino retardado e hipovolemia, con tasas de mortalidad sin tratamiento de entre el 80-100% de los casos, que varían en función del grado de transfusión. El diagnóstico se basa en el estudio ecográfico exhaustivo de ambos fetos, procurando un diagnóstico precoz y un estadiaje correcto, ya que el pronóstico se verá muy influenciado por la actuación temprana. El tratamiento de elección es la coagulación láser de las anastomosis vasculares por fetoscopia, que se realiza idealmente entre la semana 18 y 26 de embarazo. El pronóstico es variable, en función de la disponibilidad de terapia fetal y de la edad gestacional en el momento del diagnóstico, siendo, en general, de muy mal pronóstico sin tratamiento efectivo(AU)

Twin-twin transfusion syndrome (TTTS) is one of the most serious complications of monochorionic multiple gestations. The etiology is due to a chronic blood transfusion from de donor twin to the recipient twin trough vascular anastomoses between both placenta territories. Main clinical presentation is present in both donor and recipient fetuses, as a direct consequence of a blood volume alteration in each one. The recipient twin shows polyhydramnios related to polyuria resulting from a state of constant fluid overload, finally evolving into congestive heart failure. In the donor twin, the clinical presentation is opposite and shows oligoamnios, oliguria, intrauterine retarded growth and hypovolemia. Untreated mortality rates are between 80-100 % of all cases, which may vary depending on the severity of the transfusion. Diagnoses is based on exhausting ultrasound examination of both fetuses, securing early diagnosis and correct staging, since prognosis will be greatly influenced by early actions. Fetoscopic laser ablation is generally the definitive treatment between 16 and 26 weeks of gestation. The prognosis is variable, depending on the availability of fetal therapy and gestational age at diagnosis. It is generally very poor prognosis without effective treatment(AU)

Intestinal perforation in one of monochorionic twins: a report of two cases and literature review / 中华围产医学杂志

Objective To report two cases of intestinal perforation in one of monochorionic twins and to analyze relevant clinical manifestations based on literature review. Methods Both cases were admitted to the Obstetrics and Gynecology Hospital of Fudan University in 2017. Relevant articles were retrieved from PubMed, OVID, Elsevier, Full-text Database of China National Knowledge Infrastructure(CNKI) and Wanfang Database from their release dates to February 2018. Clinical manifestations were analyzed through a literature review. Results In case 1, twin boys were born by cesarean section because of selective intrauterine growth restriction (sIUGR) Ⅲ at 31+3gestational weeks. Signs of abdominal distention were found in one boy the day after birth, whose birth weight was 1 440 g and Apgar scores was all 9 at 1, 5 and 10 min after birth. A large amount of intra-abdominal gas was shown on abdominal X-ray. He was cured after surgery and discharged later. The other boy was fine. In case 2, twin girls were born by cesarean section because of twin-twin transfusion syndrome (TTTS) Ⅲ at 29+1gestational weeks. The one suffered from intestinal perforation was 810 g at birth and her Apgar scores was all 8 at 1, 5 and 10 minutes. Pneumoperitoneum were observed on abdominal X-ray 16 h after birth. The baby died because of refusal to further treatment after surgery. The other girl was in good condition. Literature search found no relevant report in mainland China, but ten cases had been reported aboard and five of them died. Most cases of TTTS complicated by intestinal perforation occurred in the recipients. Conclusions Complications of monochorionic twins such as TTTS and sIUGR might be potentially associated with intestinal perforation. Early intervention and evaluation is the key to improve the outcomes.

Implante coclear na síndrome Kearns-Sayre: estudo de caso de irmãs gêmeas / Cochlear implant in Kearns-Sayre syndrome: case study of twin sisters

RESUMO A deficiência auditiva pode estar relacionada com diversos fatores, entre eles, a perda auditiva decorrente de determinadas síndromes genéticas. A síndrome Kearns-Sayre é caracterizada por mutações no DNA (deoxyribonucleic acid) mitocondrial, responsável pela produção de energia (trifosfato de adenosina - ATP), que é de extrema importância para o desenvolvimento de estruturas que dela necessitam, como a cóclea. O caso foi acompanhado no hospital, desde o ano 2000, devido à característica progressiva da perda auditiva constatada nos exames audiológicos e nos achados em casos relacionados à síndrome. A intervenção com os aparelhos de amplificação sonora individual (AASI) se mostrou pouco benéfica para a boa comunicação oral de uma das pacientes, que passou a ter o diagnóstico de perda auditiva profunda bilateral. Assim, após discussões em reuniões clinicas, a equipe optou pela indicação do implante coclear para a paciente, segundo os critérios atuais para indicação desta cirurgia, e com o qual obteve bons resultados. Sua irmã gêmea, que apresentou bons resultados com AASI, continuará em acompanhamento audiológico, para se verificar a evolução do caso e discutir uma nova conduta, caso necessário. Pacientes com suspeita, ou diagnóstico de síndrome Kearns-Sayre devem buscar o diagnóstico audiológico, pois se trata de uma possível perda auditiva progressiva, sendo necessária a reabilitação com o uso de dispositivos auditivos. Manter a comunicação oral é de extrema importância, pois, nestes casos, outras funções serão prejudicadas, como o tônus muscular e a visão.

ABSTRACT Hearing impairment may be related to several factors, including hearing loss due to certain genetic syndromes. Kearns-Sayre syndrome is characterized by mutations in mitochondrial DNA (deoxyribonucleic acid), responsible for energy production (adenosine triphosphate - ATP), which is extremely important for the development of structures that need it, such as the cochlea. The case was followed in the hospital, since 2000, due to the progressive characteristic of the hearing loss observed in the audiological examinations and the findings in cases related to the syndrome. The intervention with individual sound amplification devices (AASI) proved to be of little benefit to the good oral communication of one of the patients, who was diagnosed as having bilateral profound hearing loss. Thus, after discussions at clinical meetings, the team opted for the indication of the cochlear implant for the patient, according to the current criteria for indication of this surgery, and with which it obtained good results. Her twin sister, who presented good results with AASI, will continue to undergo audiological follow-up, to verify the evolution of the case and discuss a new conduct, if necessary. Patients with suspected or diagnosed Kearns-Sayre syndrome should seek the audiological diagnosis, since it is a possible progressive hearing loss, requiring rehabilitation with the use of hearing devices. Maintaining oral communication is extremely important because in these cases other functions will be impaired, such as muscle tone and vision.

Clinical outcome and placenta characteristics of spontaneous twin anemia-polycythemia sequence / 中华妇产科杂志

Objective To investigate the clinical outcome and placental characteristics of spontaneous twin anemia-polycythemia sequence (sTAPS). Methods Twelve cases with sTAPS delivered in Peking University Third Hospital from May 2013 to August 2016. The data of ultrasound characteristics, gestational age at delivery, and 1 minute Apgar score were analyzed,retrospectively. Placental superficial vascular anastomoses, placental territory discordance and the ratio of umbilical cords insertion distance to the longest placental diameter were also analyzed. Results (1) Only 1 case of sTAPS was diagnosed prenatally, the others were diagnosed postnatally because the fetal middle cerebral artery(MCA) doppler was not measured regularly. Five cases were complicated with selective intrauterine growth restriction (sIUGR). The median gestational age at delivery was 32.8 weeks(31-37 weeks). The pregnancies were terminated because 3 cases were sIUGR typeⅠ, 1 case was sIUGR type Ⅱ, 1 case was sIUGR type Ⅲ, 2 cases were fetal distress, 2 cases were severe pre-eclampsia, 2 cases were premature rupture of membrane, 1 case was fetal hydrops with abnormal doppler waveforms of ductus venouses. (2) When 5 sIUGR cases were excluded, there was no difference between the twins in birth weight [1797 g(940-2620 g),1648 g(980-2500 g);P=0.688]. The hemoglobin (Hb) level in all donor was significantly lower than recipient(P=0.000)and the inter-twin Hb difference was 147.6 g/L (84.0-216.0 g/L). While the reticulocyte percentage in donor was significantly higher than recipient (P=0.013) and reticulocyte percentage ratio was 3.60 (1.04-7.50). Five donor newborns had neonatal asphyxia, including 1 severe asphyxia, while no asphyxia happened in the recipient twins. (3) Arterio-arterial (A-A) anastomoses, veno-venous (V-V) anastomoses, arterio-venous (A-V) anastomoses were found in 3, 1 and 11 placentas, respectively. The total number of anastomoses was 2 (1-5) and the total diameter was 1.1 mm (0.4-2.1 mm), including 0 (0-1) A-A anastomoses with 0.2 mm (0.0-0.9 mm) in diameter and 2 (0-5) A-V anastomoses with 0.7 mm (0.0-2.1 mm) in diameter. The placental territory discordance was 0.17 (0.02-0.40) and the ratio of umbilical cords insertion to the longest placental diameter was 0.82 (0.34-0.99). Conclusions The pathogenesis of sTAPS might result from slow and chronic blood transfusion from donor to recipient through a few minuscule vascular anastomoses in the placenta. In all monochorionic twins, especially sIUGR cases, MCA doppler should be monitored closely in the second and third trimester, in order to diagnose and manage sTAPS in time.

Manejo del síndrome de transfusión feto fetal en gestaciones gemelares monocoriales / Management of twin-twin transfusion syndrome in monochorionic twin gestations

El síndrome de transfusión feto fetal es una complicación grave de las gestaciones gemelares monocoriales. Su etiología se debe a la transfusión crónica de sangre del feto donante, al feto receptor; a través de las anastomosis vasculares entre los territorios placentarios de ambos. El cuadro clínico característico se evidencia en ambos fetos: receptor y donante, lo cual es consecuencia directa de las alteraciones en la volemia que padece cada uno. En el feto receptor, se observa un polihidramnios relacionado con la poliuria derivada de un estado de hipervolemia constante, que evoluciona hacia una insuficiencia cardiaca congestiva. En el feto donante, el cuadro es inverso; caracterizado por oligoamnios, oliguria, crecimiento intrauterino retardado e hipovolemia, con tasas de mortalidad sin tratamiento de entre 80-100 por ciento de los casos, que varían en función del grado de transfusión. El diagnóstico se basa en el estudio ecográfico exhaustivo de ambos fetos, procurando un diagnóstico precoz y un estadiaje correcto, ya que el pronóstico se verá muy influenciado por la actuación temprana. El tratamiento de elección es la coagulación láser de las anastomosis vasculares por fetoscopia, idealmente entre la semana 18 y 26 de embarazo. El pronóstico es variable, en función de la disponibilidad de terapia fetal y de la edad gestacional en el momento del diagnóstico; al ser, en general, de muy mal pronóstico sin tratamiento efectivo(AU)

Twin-twin transfusion syndrome is one of the most serious complications of monochorionic multiple gestations. Its etiology is due to a chronic blood transfusion from de donor twin to the recipient twin through the vascular anastomoses between the placental territories of both fetuses. The characteristic clinical presentation appears in both donor and recipient fetuses, as a direct consequence of altered volemia in each one. Polyhydramnios related to polyuria resulting from a state of constant hypervolemia is observed in the recipient twin, finally evolving into congestive heart failure. The clinical presentation in the donor twin is reversed and characterized by oligoamnios, oliguria, retarded intrauterine growth and hypovolemia, with untreated mortality rates ranging 80-100 percent of all cases, which may vary depending on the severity of the transfusion. The diagnosis is based on exhaustive echographic examination of both fetuses to make an early diagnosis and correct staging, since the prognosis depends very much on early action. The treatment of choice is fetoscopic laser coagulation of vascular anastomoses between 18 and 26 weeks of gestation. The prognosis is variable, depending on the availability of fetal therapy and the gestational age at diagnosis, being prognosis generally very poor without an effective treatment(AU)

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.

Twin-twin transfusion syndrome: neurodevelopmental screening test / Síndrome de transfusão feto-fetal: teste de triagem do desenvolvimento neurológico

Objective To assess the neurodevelopmental functions (cognition, language and motor function) of survivors of twin-twin transfusion syndrome (TTTS). Method Observational cross-sectional study of a total of 67 monochorionic diamniotic twins who underwent fetoscopic laser coagulation (FLC) for treatment of TTTS. The study was conducted at the Center for Investigation in Pediatrics (CIPED), Universidade Estadual de Campinas. Ages ranged from one month and four days to two years four months. Bayley Scales of Infant and Toddler Development Screening Test-III, were used for evaluation. Results Most children reached the competent category and were classified as having appropriate performance. The preterm children scored worse than term infants for gross motor subtest (p = 0.036). Conclusion The majority of children reached the expected development according to their age. Despite the good neurodevelopment, children classified at risk should be monitored for development throughout childhood. .

Objetivo Avaliar as funções do desenvolvimento neurológico (cognição, linguagem e motricidade) de sobreviventes da síndrome de transfusão feto-fetal (STFF). Método Estudo transversal observacional, total de 67 gêmeos diamnióticos monocoriônicos submetidos à coagulação a laser por fetoscopia para o tratamento da STFF. O estudo foi realizado no Centro de Investigação em Pediatria (CIPED), Universidade Estadual de Campinas. A idade variou entre um mês e quatro dias a dois anos e quatro meses. Foram utilizadas as Bayley Scales of Infant and Toddler Development Screening Test-III para avaliação. Resultados A maioria das crianças atingiu a categoria competente e foi classificada como tendo desempenho adequado. As crianças prematuras obtiveram desempenho inferior quando comparadas às nascidas a termo no subteste motor global (p = 0,036). Conclusão A maioria das crianças alcançou o desenvolvimento esperado de acordo para idade. Apesar do bom desenvolvimento neurológico, crianças classificadas na categoria de risco devem ser monitoradas para o desenvolvimento, durante a infância. .

Complicações fetais na gemelaridade monocoriônica: quadro clínico, fisiopatologia, diagnóstico e conduta / Fetal complications in monochorionic twin pregnancy: clinical features, pathophysiology, diagnosis and management

A incidência de gemelaridade monocoriônica é de um para cada duzentos e cinquenta gestações. A placenta monocoriônica está relacionada a maior risco de complicações gestacionais, como transfusão feto-fetal, restrição seletiva do crescimento fetal, óbito fetal e gêmeo acárdico. Portanto, a avaliação criteriosa da corionicidade, o monitoramento da gestação e a detecção precoce de complicações são fatores importantes para melhorar o desfecho neonatal. Assim, o objetivo deste estudo é descrever as principais complicações fetais da gestação monocoriônica e qual deve ser a conduta obstétrica diante das diversas situações adversas. Foi realizada uma revisão de literatura dos últimos 28 anos, nas bases de dados MEDLINE/Pubmed, Scielo, LILACS e BIREME, sendo encontrados 401 artigos. Dentre estes, 28 estudos foram selecionados para esta revisão.(AU)

The incidence of monochorionic twin pregnancy is one in every two hundred and fifty pregnancies. The monochorionic placenta is associated with higher risk of pregnancy complications, such as fetal-fetal transfusion, selective fetal growth restriction, fetal death and acardiac twin. Therefore, a careful assessment of chorionicity, monitoring of pregnancy and early detection of complications are important factors to improve neonatal outcomes. Thus, the aim of this study is to describe the major fetal complications of monochorionic pregnancy and the better and what should be the obstetric approach considering the various adverse situations. A literature review of the past 28 years was performed in MEDLINE/PubMed, SciELO, LILACS and BIREME, being found 401 articles. Of these, 28 studies were selected for this review.(AU)

MRI manifestations of abnormalities in twin fetuses / 中华放射学杂志

Objective To investigate the supplementary roles of MRI in the diagnosis of fetal abnormalities in twin fetuses.Methods MRI manifestations of 22 twins were retrospectively analyzed after abnormalities were found by prenatal ultrasonography (US) from Sep 2005 to Dec 2012.Two rapid scanning sequences were used in the study,fast-imaging employing steady-state acquisition (FIESTA) and fast inversion recovery motion insensitive (FIRM).MRI findings were compared with those of prenatal US,induced labour or postpartum diagnosis.Results A total of 22 twins were reported with 23 abnormal fetuses in 20 twins and 2 normal twins.MRI confirmed central nervous system abnormalities in 3 abnormal fetuses which were anencephalus,meningoencephalocele and enlargement of lateral ventricles respectively.The case of meningoencephalocele was showed brain tissue protruding from the occipital defect on MRI,which was misdiagnosed as a cystic lymphagioma by US.The MRI diagnosis of anencephalus and enlarged lateral ventricles were accordant with US.MRI made the definite diagnosis in 5 chest abnormalities,which were left congenital diaphragmatic hernia (CDH) in 5 abnormal fetuses.They were diagnosed as possible CDH by US.Abdominal abnormalities (n=7,8 abnormal fetuses) included two fetuses in one twin with expanded digestive tract,one fetus with expanded colon and rectus and five fetuses with omphalocele.MRI diagnosis was compatible with US diagnosis in the 7 cases.Twins micromelia were found in one case with 2 abnormal fetuses.Conjoined twins in chest and abdomen were found in another case,which manifested as two hearts,one shared liver and independent urinary tracts and gastrointestinal tracts on MRI.One fetus in twin was dead (n=1,1 abnormal fetus).MRI showed small size and skin edema of the dead fetus.One acephalus acardius of twins (n=2,2 abnormal fetuses) was proved.Normal MRI manifestations were indicated in 2 cases which were suspected by US for abnormal digestive tract and cryptorachischisis respectively.Conclusions MRI,an important supplementary method of prenatal US diagnosis,shows valuable advantages including multi-plane manifestations,more extensive visual field and good soft tissue contrast.It is especially helpful in the diagnosis and treatment of multiple pregnancy.

Clinical management and perinatal outcome of twin reversed arterial perfusion sequence in different stage / 中华妇产科杂志

Objective To discuss the methods and outcomes of twin reversed arterial perfusion sequence in different stage. Methods From August 2012 to December 2013, 11 cases were diagnosed with twin reversed arterial perfusion sequence (TRAP) by 3d color Doppler ultrasound in the Maternal ang Fetal Medicine Center ,Affiliated Shengjing Hospital, China Medical University, including 3 cases in stageⅠa, 7 in stageⅡa and 1 case in stageⅡb. We performed expected therapy to 3 cases in stageⅠa and 4 cases in stageⅡa [1 case (case 9) in stageⅡa developed to stageⅡb and was terminated by emergency cesarean section], radio frequency ablation (RFA) selective reduction to 3 cases in stage Ⅱa, emergency cesarean section to 1 case in stageⅡb. All cases except case 1,4 took cesarean section to terminate pregnancy and would be followed up on the aspect of infant′s growth. Results (1) 3 cases in stageⅠa were monitored by sequential ultrasound examination, all donors grew normally, in which 2 acardias arised spontaneous cessation of flow and were implemented of cesarean section after the normal period of gestation; 1 case suffered premature rupture of membrane and experienced the natural childbirth at 34 gestation weeks plus 5 days. The survived average labor weight was 2 923 g. (2) In the 7 stage Ⅱa cases, 3 cases were implemented of RFA selective reduction, 2 cases survived and the average labor gestation was 35 weeks plus 1 day and average labor weight was 2 050 g;in 3 expected therapy cases, 1 case suffered premature rupture of membrane at 34 gestation weeks plus 5 days and experienced cesarean section; 1 case was observed for 3 weeks and the donor was stillborn; 1 case progressed to stage Ⅱb and experienced cesarean section at 34 gestation weeks plus 5 days;and 1 case was lost of follow up. (3) For 2 cases of stageⅡb cases, one was progressed from stage Ⅱa during expected therapy; the other one had been already in stage Ⅱb since visiting and experimented an emergency cesarean section, but the neonate died of heart failure two days after labor. (4) 7 survived neonates were followed up, all had a normal condition compared to kids of the same age, except one suffering a congenital heart disease, patent ductus arteriosus and atrial septal defect and whose weight (6 kg at 7 months) was lighter. Conclusions We should make the diagnosis of TRAP as early as soon and choose appropriate therapy according to the stage. According to our research, cases in stage Ⅰa can undergo an expected therapy under a sequential ultrasound examination;cases in stageⅡa can undergo a RFA selective reduction to improve the prognosis of the donor, which can make a good perinatal outcome.

Gestação gemelar com mola hidatiforme completa e feto vivo após ovodoação e fertilização in vitro: relato de caso / Twin pregnancy with a complete hydatiform mole and a live fetus following egg donation and in-vitro fertilization: case report

Introdução: a gestação gemelar com mola hidatiforme completa e feto vivo é um evento raro e tem, na maior parte dos casos, evolução para aborto ou interrupção médica por causa dos riscos para a mãe e para o feto. Quando associada à reprodução assistida, a decisão de finalização é mais difícil por causa do desejo do casal em manter a gestação. Método: este artigo apresenta um caso de gestação gemelar dizigótica com mola hidatiforme completa em coexistência com feto diploide e placenta normal em uma paciente de 45 anos após fertilização in vitro por ovodoação. Resultados: paciente optou por manter a gestação e o parto ocorreu com 29 semanas, sem complicações maternas. Recém-nascido evoluiu com bom desenvolvimento neuropsicomotor, sem sequelas. Conclusão: este relato de caso ilustra a possibilidade de conduta expectante, porém não podemos ignorar o fato de que existe um alto risco de permanência da doença trofoblástica gestacional. Infelizmente, a raridade do caso torna o manejo clínico ainda controverso.

Introduction: twin pregnancy with complete hydatiform mole and live fetus is a rare event with the most cases resulting in abortion or medical interruption due to maternal and fetal risks. When associated with assisted reproduction, the decision of pregnancy interruption is more difficult due to the desire of the couple to maintain the pregnancy. Method: this study will present a case of twin dizygotic pregnancy with complete hydatiform mole coexisting with fetus diploid and normal placenta in a patient 45 years old, after in-vitro fertilization by egg donation. Results: patient chose to keep the pregnancy and the delivery occurred at 29 weeks without major maternal complications. Newborn evolved with good psychomotor developmentwithout sequelae. Conclusion: this case report illustrates the possibility of expectant management, but wecannot ignore the fact that there is a high risk of persistent gestational trophoblastic disease. Unfortunately, the rarity of the case makes the clinical management still controversial.

Variações na apresentação fenotípica da escoliose idiopática do adolescente / Variations in the phenotypic presentation of adolescent idiopathic scoliosis / Discordancia fenotípica en gemelos monocigóticos

OBJETIVO: discutir quais elementos, de acordo com a literatura, são responsáveis pela discordância fenotípica em gêmeos monozigóticos. MÉTODOS: foram levantados os dados ambulatoriais de um par de gêmeas monozigóticas, que incluíram: idade no momento do diagnóstico, tipo de curva, ângulo de Cobb da deformidade na consulta inicial, início do tratamento e último acompanhamento, ápice da curva e ângulo de Cobb aferido nas imagens radiográficas em perfil. RESULTADOS: criança I: curva principal lombar à esquerda, com ângulo de Cobb entre T11-L4 de 17º, e curva torácica direita entre T5-T11 de 14º. Os ápices encontravam-se no disco L1-L2 e na vértebra T8, respectivamente. Um ano depois, se detectou progressão significativa da deformidade, com a curva lombar evoluindo para 24º (T11-L4) e a curva torácica para 23º (T5-T11). Criança II: curva toracolombar de pequena magnitude à direita, com ângulo de Cobb entre T9 e L3 de 18º. O ápice situava-se na vértebra de T12. Um ano depois, observou-se aumento da curva, com o ângulo de Cobb progredindo para 40º...

OBJECTIVE: to discuss which elements, according to literature, are responsible for phenotypic discordance in monozygotic twins. METHODS: the data from a pair of female monozygotic twins were gathered. These data included their age at the time of the diagnosis, type of curve, Cobb angle of the deformity at the time of the initial consultation, dates of the start of treatment and the last follow-up, the apex of the curve and Cobb angle measured from radiological images in lateral view. RESULTS: child I: major lumbar curve to the left, with a Cobb angle of 17º between T11 and L4, and a thoracic curve to the right, with an angle of 14º between T5 and T11. The apices were at the L1-L2 disc and at the T8 vertebra, respectively. One year after the first consultation, there had been significant progression of the deformity, with the lumbar curve of 24º (T11-L4) and the thoracic curve of 23º (T5-T11). Child II: small thoracolumbar deformity to the right, which was confirmed radiographically with a Cobb angle of 18º between T9 and L3. The apex was located at the T12 vertebra. One year later, it was observed that the curve had increased, and the Cobb angle had become 40º...

OBJETIVO: discutir los elementos que, de acuerdo a la literatura, son responsables por la discordancia fenotípica en gemelos monocigóticos. MÉTODOS: fueron recogidos los datos de un par de pacientes gemelas monocigóticas, que incluyeron la edad al diagnóstico, el tipo de curva, el ángulo de Cobb de la deformidad en la presentación, al inició del tratamiento y a la última consulta de seguimiento, el ápice de la curva y el ángulo de Cobb medido en las imágenes en el perfil. RESULTADOS: niña I - curva lumbar primaria a la izquierda con el ángulo de Cobb entre T11-L4 de 17º y la curva torácica derecha entre T5-T11 de 14º. Los ápices estaban en el disco L1-L2 y en la vértebra T8, respectivamente. Un año después, se detectó progresión significativa de la deformidad con la curva lumbar progresando a 24º (T11-L4), y la curva torácica a 23º (T5-T11). Niña II: curva toracolumbar de pequeña magnitud a la derecha, con ángulo de Cobb entre T9 y L3 de 18º. El ápice se encuentra en la vértebra T12. Después de un año, hubo un aumento de la curva, con el ángulo de Cobb progresando hasta 40º...

Artrogriposis múltiple congénita en gemelo monocoriónico biamniótico: Reporte de caso y revisión de la literatura / A case report of arthrogryposis multiplex congenita in monochorionic biamniotic twins

Introducción: la artrogriposis múltiple congénita es un grupo de desórdenes musculoesqueléticos de muy rara aparición, caracterizados por contracturas múltiples articulares, en los que se afectan los músculos de los miembros superiores, inferiores y del dorso. La etiología de esta condición permanece desconocida y muchos agentes causales han sido implicados, particularmente infecciones virales y condiciones restrictivas intrauterinas. Objetivo: aportar a la literatura un caso de artrogriposis múltiple congénita (AMC) en un embarazo gemelar monocoriónico biamniótico, y revisar la etiología y fisiopatogenia de esta malformación congénita. Presentación del caso: en el segundo gemelo de sexo masculino, con un peso de 1345 g, se observó acortamiento de las cuatro extremidades de todos los segmentos, contracturas articulares que llevaban a una desviación marcada de manos y pies hacia la línea media, e imposibilidad de los movimientos activos. Discusión: el presente reporte describe AMC en unodelosgemelosidénticos, lo cual sugiere que esta condición no se presentó por alteraciones cromosómicas o enfermedades hereditarias, sino por uno o varios factores extrínsecos al feto, probablemente de origen mecánico, que pueden comprometer el desarrollo normal de las articulaciones y llevar a la aparición de AMC. En la literatura revisada, éste es el cuarto reporte de características similares.

Arthrogryposis multiplex congenita (AMC) is a group of rarely occurring musculoskeletal disorders, characterised by multiple joint contractures affecting the muscles of the upper and lower limbs and the back. This condition’s aetiology remains unknown and many causal agents have been implicated, particularly viral infections and intra-uterine restrictive conditions. Objective: contributing a case of AMC in a monochorionic biamniotic twin pregnancy to the literature and reviewing this congenital malformation’s aetiology and physiopathogeny. Case presentation: a second-born male twin, weighing 1345 gr, shortening of the four limbs in all segments was observed, accompanied by joint contractures leading to marked hand and foot deviation towards the mid line and the impossibility of active movement. Discussion: AMC being displayed in one of the identical twins mentioned in the present report suggests that this condition did not take place because of chromosomal alteration or a hereditary disease. Rather, it was presented because of one or several external factors (probably mechanical) affecting the foetus which may have jeopardised the normal development of the joints and led to AMC appearing. This is the fourth report of similar characteristics in the literature reviewed.

Prenatal diagnosis of congenital fetal heart abnormalities in twins by Yagel's heart examination method / 中华妇产科杂志

Objective To investigate the value and clinical significance of congenital heart diseases (CHD)detection in twins.Methods A total of 1103 twins were included in this study(127 twins were at high risk for CHD).The fetal hearts were scanned by ultrasound using Yagel's heart examination method. Autopsies were done when the pregnancy was terminated.And blood samples from fetal hearts or umbilical veins were used to evaluate fetal chromosomes.A close follow-up was conducted for normal heart cases and another heart examination was done within three months after birth.Results(1)12 twins(1.09%,12/ 1103)had CHD.Among them,4 cases were from the high risk for CHD group(33.3%,4/12),and 8 cases(66.7%,8/12)were from the low risk pregnancy group.(2)Two twins suffered from the same CHD (one pair were both TOF,and the other pair were both rhabdomyoma).One pair of twins had different abnormalities(one baby was TOF,and the other was duodenal atresia with a normal heart).All three pairs of twins chose termination and autopsies were conducted.Unanimous conclusions between prenatal ultrasound and autopsy were obtained.Nine twins were CHD in one baby and a normal heart in the other baby.Seven of them had the same conclusion after delivery.(3)Two twins with CHD were found with fetal abnormal chromosome.(4)1091 cases were not found having any abnormality,however,one fetus from one twin pair was diagnosed with ventricular septal defect(VSD)with abnormal chromosome after birth,and one fetus from another twin pair had patency of ductus arteriosus after birth.(5)The sensitivity of Yagel's heart examination was 82.4% and specificity was 100% in twins.Conclusion Yagel's heart examination is an effective and time-saving method to scan fetal hearts in twins.