RESUMO
Objective: To summarize the clinical value of fetoscopy in the prenatal diagnosis and treatment of amniotic band syndrome (ABS). Methods: A retrospective analysis was conducted on the clinical data of seven ABS fetuses who underwent prenatal fetoscopic intervention at the Third Affiliated Hospital of Zhengzhou University from December 2020 to August 2023. Literatures related to fetoscopic treatment of ABS were searched in databases including China National Knowledge Infrastructure, Wanfang Data, and PubMed. Clinical data were extracted and the characteristics and intervention effects of fetoscopic surgery in the treatment of ABS were summarized. Results: (1) Preoperative evaluation: the gestational age at diagnosis for the seven ABS fetuses was (19.8±4.4) weeks, and the gestational age at fetoscopic intervention was (22.2±2.8) weeks. The indications for fetoscopic intervention included umbilical cord involvement (3 cases), limb amniotic band with circular constriction (2 cases), and unclear visualization of digits (3 cases). (2) Pregnancy outcomes: among the seven ABS fetuses, four cases underwent selective termination of pregnancy due to severe intrauterine limb amputation, and three cases underwent fetoscopic lysis of amniotic bands. Among the latter three cases, one case experienced intrauterine fetal death (IUFD) two weeks after the procedure, and two cases had good postoperative outcomes. (3) Literature review: a total of 40 cases, including 37 cases from 17 articles and three cases from our institution, were included in the analysis. The indications for fetoscopic surgery included limb amniotic band with circular constriction and involvement of the umbilical cord. The success rate of the surgery was 82% (33/40), and 78% (29/37) of the affected limbs retained good functionality. Premature rupture of membranes was the most common complication, with an incidence rate of 48% (16/33). The average interval from the surgery to membrane rupture was (6.1±5.1) weeks, and the average interval from the surgery to delivery was (10.5±4.1) weeks, with an average gestational age at delivery of (33.7±3.6) weeks. The pregnant women were divided into single Trocar group (27 cases) and double Trocar group (13 cases) based on the surgical approach. The success rates in single Trocar group and double Trocar group were 78% (21/27) and 12/13, respectively, and the difference was not statistically significant (χ2=0.474, P=0.491). The gestational age of delivery in the single Trocar group and double Trocar group was (32.7±3.4) and (35.4±3.2) weeks, respectively, and the difference was statistically significant (t=-2.185, P<0.05). There were no statistically significant differences in the success rate of the surgery, incidence of premature rupture of membranes, interval between surgery and membrane rupture, interval between surgery and delivery, and preterm delivery rate between the two groups (all P>0.05). Conclusions: Fetoscopy could be used for prenatal assessment and intrauterine treatment of ABS. Fetoscopic lysis of amniotic bands may be an effective method for treating ABS, which helps preserve limb function and prevent intrauterine limb amputation and IUFD.
Assuntos
Síndrome de Bandas Amnióticas , Fetoscopia , Resultado da Gravidez , Humanos , Síndrome de Bandas Amnióticas/diagnóstico , Síndrome de Bandas Amnióticas/cirurgia , Fetoscopia/métodos , Feminino , Gravidez , Estudos Retrospectivos , Cordão Umbilical/cirurgia , Diagnóstico Pré-Natal/métodos , Idade Gestacional , Adulto , Ultrassonografia Pré-NatalRESUMO
Ichthyosis is caused by Mendelian cornification disorders. Hereditary ichthyoses are divided into non-syndromic and syndromic ichthy-oses. Amniotic band syndrome involves congenital anomalies that most frequently cause hand and leg rings. The bands can wrap around the developing body parts. In this study, it is aimed to present an emergency approach to amniotic band syndrome accompanying a case of congenital ichthyosis. We were asked by the neonatal intensive care unit to consult on the case of a 1-day-old baby boy. On physical examination, congenital bands were found to be present on both hands, the toes were rudimentary, skin scaling was present on the entire body, and the consistency of the skin was stiff. The right testicle was not in the scrotum. Other system examinations were normal. However, the blood circulation in the fingers in the distal of the band had become critical. With the help of sedation, the bands on the fingers were excised, and after the procedure, it was observed that the circulation in the fingers was more relaxed than it had been before the procedure. Coexistence of congenital ichthyosis and amniotic band is very rare. Emergency approach to these patients is very important in terms of saving the limb and preventing growth retardation in the limb. As further developments take place in terms of prenatal diagnoses, these cases will be able to be prevented through the early diagnosis and treatment.
Assuntos
Síndrome de Bandas Amnióticas , Ictiose , Masculino , Gravidez , Recém-Nascido , Feminino , Humanos , Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/diagnóstico , Síndrome de Bandas Amnióticas/cirurgia , Ictiose/diagnóstico , Ictiose/terapia , Pele , Diagnóstico Pré-Natal , DedosRESUMO
Amniotic bands can lead to eyelid colobomas contiguous with facial clefts, resulting in severe and highly variable eyelid malformations. There is no known underlying genetic cause of amniotic band sequence. Here, the authors review the case of an infant born with large, 4-eyelid colobomatous defects in the setting of facial clefts, amniotic bands and an underlying SMOC1 mutation, which has not previously been linked to amniotic band sequence or eyelid colobomas. Reconstructive technique and the postoperative course are described, and underlying etiologic theories of amniotic band sequence are reviewed and expanded upon. Although amblyopia prevention in this patient with poor visual potential was not a consideration, the goals of improving the patient's ocular surface and maintaining eye contact were achieved.
Assuntos
Síndrome de Bandas Amnióticas , Coloboma , Doenças Palpebrais , Lactente , Recém-Nascido , Humanos , Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/diagnóstico , Coloboma/diagnóstico , Coloboma/cirurgia , Pálpebras/cirurgia , Pálpebras/anormalidadesRESUMO
A 5-month-old girl presented with bilateral upper and lower eyelid cicatricial ectropion with right eye exposure keratopathy and bilateral lateral canthal defects. Physical examination revealed a constriction band over the temporal area of the head and nasal bridge; she was diagnosed with congenital amniotic band syndrome (ABS). Upper and lower eyelid reconstruction procedures were performed along with lateral canthal reconstruction to salvage the remaining left eye. Congenital ABS is a rare disorder. Most cases of ocular ABS are associated with limb deformities due to constriction defects and blood flow restrictions. Our patient presented solely with ocular and periocular deformities.
Assuntos
Síndrome de Bandas Amnióticas , Ectrópio , Ceratoconjuntivite , Recém-Nascido , Feminino , Humanos , Lactente , Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/diagnóstico , Pálpebras/cirurgia , Exame FísicoRESUMO
We report on the treatment of a 22-year-old female patient with an acute soft tissue infection in the area of an amniotic band due to palmoplantar keratoderma congenital alopecia syndrome (PPKCA) type II, a very rare genodermatosis with less than 20 cases described in literature. An acute soft tissue infection distal from the pre-existing constriction ring with hyperkeratosis on the right small finger led to a decompensation of the venous and lymphatic drain with imminent loss of the finger. Due to urgent surgical treatment with decompression and debridement of the dorsal soft tissue infection, microsurgical circular resection of the constriction ring and primary wound closure the finger could be preserved. After soft tissue consolidation and hand therapy, the patient achieved free movement of the small finger with subjective freedom of symptoms and good aesthetic results.
Assuntos
Síndrome de Bandas Amnióticas , Ceratodermia Palmar e Plantar , Infecções dos Tecidos Moles , Recém-Nascido , Feminino , Humanos , Adulto Jovem , Adulto , Síndrome de Bandas Amnióticas/diagnóstico , Síndrome de Bandas Amnióticas/cirurgia , Dedos/cirurgiaRESUMO
We aimed to evaluate the fetoscopic procedure indications, procedure-related complications, and neonatal outcomes in cases diagnosed with amniotic band syndrome (ABS). Stage II and III cases according to Hüsler classification were included for fetoscopic surgery. Scissors were used to release the amniotic band in six cases, and a diode laser was used in one case. A single entry was made in all cases. The majority of the children acquired a functional limb (71.4%). Fetal morbidity was mainly linked to the consequences of preterm premature rupture of the membranes (57.1%) and preterm birth (28.5%). Excluding complicated cases, fetoscopic band release is encouraging in cases of ABS in the limbs.
Assuntos
Síndrome de Bandas Amnióticas , Nascimento Prematuro , Gravidez , Feminino , Criança , Recém-Nascido , Humanos , Fetoscopia/métodos , Síndrome de Bandas Amnióticas/diagnóstico , Síndrome de Bandas Amnióticas/cirurgia , Síndrome de Bandas Amnióticas/complicações , Nascimento Prematuro/cirurgia , Endoscopia , FetoRESUMO
Encephalocele is a malformation due to a defect in the closure of the neural tube causing herniation of brain tissue and/or meninges through this congenital skull defect. The size of encephalocele varies from a few centimeters to a huge mass called "giant encephalocele". Content usually consists of degenerative neural tissue, meninges and a cystic part. We here report the case of a 4-month-old infant, born of non-consanguineous parents, who was referred with congenital occipital mass. Upon arrival at our clinic, clinical examination revealed a weight of 3500g, a head circumference of 33 cm, with a non-bulging anterior fontanelle. She presented with a huge renitent occipital mass measuring 43X25cm, with a height of 15cm was found. absence of both eyelids, bilateral lip and palate fissures; a constriction ring on the right leg, absence of toes on the right and left feet. A diagnosis of an amniotic band syndrome was made, with as components: occipital encephalocele associated with a bilateral palpebral coloboma, a bilateral cleft lip and palate, and amniotic bands on the right leg, and amputation of the toes of the right and left feet.
Assuntos
Síndrome de Bandas Amnióticas , Fenda Labial , Fissura Palatina , Coloboma , Lactente , Recém-Nascido , Feminino , Humanos , Fenda Labial/diagnóstico , Fenda Labial/cirurgia , Fissura Palatina/diagnóstico , Fissura Palatina/cirurgia , Síndrome de Bandas Amnióticas/diagnóstico , Encefalocele/diagnóstico , Encefalocele/cirurgia , Coloboma/complicações , Perna (Membro) , Universidades , Pálpebras , Dedos do PéRESUMO
BACKGROUND: To assess the diagnostic accuracy of public representation of congenital differences of the upper extremities. We hypothesized that there is an over-diagnosis of certain diagnoses such as amniotic constriction band and under-diagnosis of others such as symbrachydactyly and radial deficiency. METHODS: Publicly shared images and associated diagnoses were searched on publicly available news media and social media accounts published from October 2018 through November 2021 using key terms such as "amniotic band syndrome," "congenital arm amputation," and "3D prosthetic arm" as well as The Lucky Fin Project account on Instagram. The images were collected and reviewed by 2 congenital hand surgeons. The surgeons' diagnoses were then compared to the reported diagnoses associated with each image to assess accuracy. RESULTS: A total of 100 images were collected with the reported diagnosis associated with each image. Two images were removed due to evidence of prior surgery. The hand surgeons' diagnosis disagreed with the reported diagnosis in 60 of 98 (61%) images. Of those 60 inaccurate diagnoses, 2/3 were reported as amniotic constriction band. CONCLUSIONS: Media and social media depictions of congenital upper extremity differences are frequently inaccurate, and our search demonstrated that the amniotic constriction band is the most commonly reported, inaccurate diagnosis. Accuracy of diagnosis in public media is important given the impact a diagnosis has on those viewing and sharing the images. LEVEL OF EVIDENCE: Level IV, diagnostic.
Assuntos
Síndrome de Bandas Amnióticas , Membros Artificiais , Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/diagnóstico , Braço , Humanos , Recém-Nascido , Extremidade SuperiorRESUMO
INTRODUCTION: Pseudoamniotic Bands Syndrome (PABS) was described as iatrogenic complication from in utero procedure as fetoscopy. OBJECTIVE: The aim of our study was to identify the ultrasound findings in PABS diagnosed prenatally METHODS: First, we reported cases of PABS following fetoscopic surgery that were diagnosed prenatally in our institution. We collected all ultrasound data with fetal and neonatal issues. Then, a literature review was conducted by searching the Medline and Cochrane Library computer databases until 2020 to find publications that involve PABS diagnosed prenatally or postnatally. The following keywords were selected and combined: "pseudoamniotic bands syndrome", "fetoscopy", "fetal surgery". RESULTS: We collected three cases of PABS diagnosed prenatally in our center following fetoscopic procedures for complicated monochorionic pregnancies. Among these cases, we reported the following ultrasound findings: floating membrane, amniotic bands, striction of limbs, perilesional edema, reduced member size and anomalies of Doppler flow. Including our cases, we reported 23 published PABS of which eight (35%) were prenatally diagnosed. When it was diagnosed, mean GA at PABS diagnosis was 23 weeks (mean interval from fetoscopic to diagnosis was 4 weeks). Three fetoscopic release of amniotic bands were described. The principal parts affected were the limbs, more particularly the extremities. CONCLUSION: PABS was accessible to an antenatal diagnosis, as well as ABS. Although it is a rare complication of fetoscopic surgery, ultrasound examinations after procedure should focus on PABS signs to improve prognosis of the neonates.
Assuntos
Síndrome de Bandas Amnióticas/etiologia , Fetoscopia/efeitos adversos , Ultrassonografia/métodos , Adulto , Síndrome de Bandas Amnióticas/diagnóstico , Feminino , Fetoscopia/métodos , Idade Gestacional , Humanos , Recém-Nascido , GravidezRESUMO
BACKGROUND: Limb deficiencies associated with amniotic bands comprise a wide range of congenital anomalies. The association of maternal medication and the risk of amniotic band sequence (ABS) has not yet been addressed. METHODS: This nationwide population-based case-control study used national registers on congenital anomalies, births and induced abortions, cross-linked with information on maternal prescription medicine use obtained from the registers on Reimbursed Drug Purchases and Medical Special Reimbursements. All cases with congenital limb deficiency associated with amniotic bands born between 1996 and 2008 were included in the study. Five controls without limb deficiency matched for residency and time of conception were randomly selected from the Medical Birth Register. RESULTS: In total, 106 children with limb deficiency associated with ABS were identified and compared with 530 matched controls. Young maternal age (less than 25 y) increased the risk of limb deficiencies [odds ratio=1.72; 95% confidence interval (CI): 1.06, 2.80]. Primiparity was also associated with increased risk [adjusted odds ratio (aOR)=2.42; 95% CI: 1.52, 3.88]. After adjusting for maternal age, pregestational diabetes, and parity, maternal use of beta-blockers (adjusted OR=24.2; 95% CI: 2.57, 228) and progestogens (adjusted OR=3.79; 95% CI: 1.38, 10.4) during the first trimester of pregnancy significantly increased the risk of limb deficiencies associated with amniotic bands. CONCLUSIONS: Primiparity significantly increased the risk of limb defects associated with amniotic bands. Also, a novel association on increased risk of ABS with maternal use of progestogens or beta-blockers during the first trimester of pregnancy was observed. LEVEL OF EVIDENCE: Level III.
Assuntos
Antagonistas Adrenérgicos beta/uso terapêutico , Síndrome de Bandas Amnióticas , Deformidades Congênitas dos Membros , Idade Materna , Progestinas/uso terapêutico , Adulto , Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/diagnóstico , Síndrome de Bandas Amnióticas/epidemiologia , Estudos de Casos e Controles , Feminino , Finlândia/epidemiologia , Humanos , Recém-Nascido , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/epidemiologia , Deformidades Congênitas dos Membros/etiologia , Masculino , Paridade , Gravidez , Resultado da Gravidez/epidemiologia , Prevalência , Medição de Risco/métodos , Medição de Risco/estatística & dados numéricos , Fatores de RiscoRESUMO
Truncus arteriosus, interrupted aortic arch and amniotic band syndrome are rare conditions. We report a case of a 38-year-old pregnant woman who was diagnosed on a routine morphological ultrasound scan with a Van Praagh type A4 persistent truncus arteriosus with an aortic arch interruption type B and abnormal limbs (oedematous left hand, hypoplastic fingers on the right hand and right big toe amputation). Elective termination of the pregnancy was carried out and the pathological examination confirmed all the sonographic findings. Furthermore, an amniotic band parallel to the umbilical cord undetected during the ultrasound scans was revealed, and was entangled around the right hand, left wrist and the umbilical cord, causing strangulation. We present the unusual association of these independent pathologies and emphasise the usefulness of fetal autopsy in all cases of pregnancy termination and abnormal ultrasound findings to make the complete diagnosis.
Assuntos
Anormalidades Múltiplas , Síndrome de Bandas Amnióticas/diagnóstico , Diagnóstico Pré-Natal/métodos , Doenças Raras , Persistência do Tronco Arterial/diagnóstico , Adulto , Amniocentese/métodos , Síndrome de Bandas Amnióticas/complicações , Diagnóstico Diferencial , Ecocardiografia/métodos , Feminino , Humanos , Gravidez , Persistência do Tronco Arterial/etiologiaAssuntos
Anencefalia/diagnóstico por imagem , Aborto Induzido , Síndrome de Bandas Amnióticas/diagnóstico , Anencefalia/complicações , Anencefalia/genética , Anencefalia/terapia , Doenças do Desenvolvimento Ósseo/complicações , Diagnóstico Diferencial , Anormalidades do Sistema Digestório/complicações , Feminino , Cardiopatias Congênitas/complicações , Hérnias Diafragmáticas Congênitas/complicações , Humanos , Cariotipagem , Rim/anormalidades , Análise em Microsséries , Microcefalia/diagnóstico , Defeitos do Tubo Neural/complicações , Defeitos do Tubo Neural/diagnóstico por imagem , Defeitos do Tubo Neural/genética , Defeitos do Tubo Neural/terapia , Cuidados Paliativos , Gravidez , Índice de Gravidade de Doença , Espinha Bífida Cística/complicações , Triploidia , Trissomia , Ultrassonografia Pré-NatalRESUMO
OBJECTIVES: To determine the frequency of genetic and additional structural abnormalities as well as pregnancy outcomes in fetuses with prenatally diagnosed cephalocele. METHODS: A retrospective analysis of data retrieved from ultrasound examinations and genetic testing in fetuses with cephalocele diagnosed between 2006 and 2018 in a tertiary referral hospital along with a systematic literature search in the PubMed database on fetuses with prenatally diagnosed cephalocele. RESULTS: Twenty-one out of 36 fetuses were found to have additional structural anomalies (58.3%). In four fetuses, anomalies were consistent with limb-body wall complex, in five with Meckel-Gruber syndrome, and in one with amniotic band syndrome. Genetic abnormalities were present in 11.1% of fetuses (trisomy 6; microdeletion 22q11.21; microduplication 16p13.11; pathogenic variant in gene CC2D2A). Twenty-eight pregnancies were terminated (77.8%; 28/36); two were miscarried (5.6%; 2/36). All six children from pregnancies that continued were liveborn but only two survived the surgery and developed neurological sequence. Overall survival rate was 25% (2/8) with 0% intact survival. CONCLUSIONS: Additional structural anomalies are common in fetuses with cephalocele. A significant number of fetuses have genetic abnormalities, and a detailed genetic testing should be performed in all cases. The prognosis is poor with high mortality rate and 0% intact survival.
Assuntos
Anormalidades Múltiplas/diagnóstico , Síndrome de Bandas Amnióticas/diagnóstico , Transtornos da Motilidade Ciliar/diagnóstico , Encefalocele/diagnóstico por imagem , Doenças Renais Policísticas/diagnóstico , Retinose Pigmentar/diagnóstico , Trissomia/diagnóstico , Anormalidades Múltiplas/genética , Aborto Induzido , Aborto Espontâneo , Síndrome de Bandas Amnióticas/genética , Deleção Cromossômica , Duplicação Cromossômica , Cromossomos Humanos Par 16 , Cromossomos Humanos Par 22 , Cromossomos Humanos Par 6 , Transtornos da Motilidade Ciliar/genética , Estudos de Coortes , Proteínas do Citoesqueleto/genética , Encefalocele/diagnóstico , Encefalocele/genética , Feminino , Humanos , Recém-Nascido , Masculino , Morte Perinatal , Doenças Renais Policísticas/genética , Gravidez , Retinose Pigmentar/genética , Estudos Retrospectivos , Trissomia/genética , Ultrassonografia Pré-NatalRESUMO
Familial amniotic band sequence (ABS) is rare but has been reported in the offspring of mothers with connective tissue disorders. We present a family of two half-siblings with ABS who share the same biological father. Following a serious vascular event a de novo pathogenic variant in COL3A1 was detected in the father, confirming a diagnosis of vascular Ehlers-Danlos syndrome (vEDS). The same variant was found in both his ABS-affected children but not in his unaffected child. The amniotic membrane is derived from fetal tissue, type III collagen being a component. As the affected children are paternal half-siblings, ABS was less likely due to maternal factors. Rather, the amniotic bands may have resulted from decreased type III collagen production as seen in people with vEDS, causing fragility of the amniotic membrane. Consequently, it is important to consider vEDS in patients with ABS.
Assuntos
Síndrome de Bandas Amnióticas/genética , Colágeno Tipo III/genética , Síndrome de Ehlers-Danlos/genética , Adulto , Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/diagnóstico , Síndrome de Bandas Amnióticas/patologia , Criança , Doenças do Tecido Conjuntivo/complicações , Doenças do Tecido Conjuntivo/diagnóstico , Doenças do Tecido Conjuntivo/genética , Doenças do Tecido Conjuntivo/patologia , Síndrome de Ehlers-Danlos/complicações , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/patologia , Feminino , Humanos , Recém-Nascido , Masculino , Mutação/genética , Herança Paterna/genética , Fenótipo , IrmãosAssuntos
Pé Torto Equinovaro/diagnóstico por imagem , Ultrassonografia Pré-Natal , Amniocentese , Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/diagnóstico , Artrogripose/complicações , Artrogripose/diagnóstico , Doenças do Desenvolvimento Ósseo/complicações , Doenças do Desenvolvimento Ósseo/diagnóstico , Apresentação Pélvica/diagnóstico , Amostra da Vilosidade Coriônica , Transtornos Cromossômicos/complicações , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Transtornos da Motilidade Ciliar/complicações , Transtornos da Motilidade Ciliar/diagnóstico , Transtornos da Motilidade Ciliar/genética , Pé Torto Equinovaro/complicações , Pé Torto Equinovaro/diagnóstico , Pé Torto Equinovaro/etiologia , Pé Torto Equinovaro/genética , Diagnóstico Diferencial , Encefalocele/complicações , Encefalocele/diagnóstico , Encefalocele/genética , Feminino , Testes Genéticos , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Humanos , Análise em Microsséries , Oligo-Hidrâmnio/diagnóstico , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/diagnóstico , Síndrome de Pierre Robin/genética , Doenças Renais Policísticas/complicações , Doenças Renais Policísticas/diagnóstico , Doenças Renais Policísticas/genética , Gravidez , Segundo Trimestre da Gravidez , Retinose Pigmentar/complicações , Retinose Pigmentar/diagnóstico , Retinose Pigmentar/genéticaAssuntos
Ossos do Carpo/anormalidades , Deformidades Congênitas dos Membros/diagnóstico por imagem , Rádio (Anatomia)/anormalidades , Polegar/anormalidades , Anormalidades Induzidas por Medicamentos/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Amniocentese , Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/diagnóstico , Canal Anal/anormalidades , Ossos do Carpo/diagnóstico por imagem , Amostra da Vilosidade Coriônica , Síndrome Congênita de Insuficiência da Medula Óssea/complicações , Síndrome Congênita de Insuficiência da Medula Óssea/diagnóstico , Síndrome Congênita de Insuficiência da Medula Óssea/genética , Diagnóstico Diferencial , Esôfago/anormalidades , Anemia de Fanconi/complicações , Anemia de Fanconi/diagnóstico , Anemia de Fanconi/genética , Feminino , Testes Genéticos , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Comunicação Interatrial/complicações , Comunicação Interatrial/diagnóstico , Comunicação Interatrial/genética , Humanos , Rim/anormalidades , Deformidades Congênitas dos Membros/complicações , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas das Extremidades Inferiores/complicações , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Deformidades Congênitas das Extremidades Inferiores/genética , Análise em Microsséries , Gravidez , Rádio (Anatomia)/diagnóstico por imagem , Coluna Vertebral/anormalidades , Trombocitopenia/complicações , Trombocitopenia/diagnóstico , Trombocitopenia/genética , Polegar/diagnóstico por imagem , Traqueia/anormalidades , Síndrome da Trissomia do Cromossomo 13/complicações , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/complicações , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Síndrome da Trissomía do Cromossomo 18/genética , Ultrassonografia Pré-Natal , Deformidades Congênitas das Extremidades Superiores/complicaçõesRESUMO
RATIONALE: The significant ultrasonic characteristics of amniotic band syndrome (ABS) are the malformations of fetal affected parts and the band-like echoes in amniotic cavity. This article first suggests that the fetal hand adhered to umbilical cord with restricted movement provides some values in the diagnosis of ABS in early gestational weeks especially when the fetal malformation is not obvious and amniotic band is thin and fine. PATIENT CONCERNS: Two pregnant women had no discomfort and underwent routine ultrasound examination at 11 to 14 gestational weeks. DIAGNOSIS: Only the fetal hand adhered to umbilical cord with restricted movement was detected during the first ultrasound examination at 11â¼14 gestational weeks, and the floating band-like echos were detected in the amniotic cavity with follow-up examinations 2 to 3 weeks later. Both of the 2 fetus were diagnosed as ABS by ultrasound INTERVENTIONS:: The two pregnant women underwent the prenatal counseling and were recommended closely follow-up and further examination. OUTCOMES: Two fetuses died in utero between 17 and 19 weeks. After induction of labor, it was found that the hands and umbilical cord of the fetuses were wrapped by amniotic bands, which was proved pathologically as ABS. LESSONS: The adhesion of the fetal hand and umbilical cord is an important ultrasonic sign suggesting ABS with poor prognosis in early pregnancy. We hope that this study can provide some guidance for the early diagnosis of ABS during 11 to 14 week's ultrasound examination.
Assuntos
Síndrome de Bandas Amnióticas/diagnóstico , Diagnóstico Precoce , Feto/diagnóstico por imagem , Aderências Teciduais/diagnóstico por imagem , Cordão Umbilical/anormalidades , Adulto , Síndrome de Bandas Amnióticas/embriologia , Evolução Fatal , Feminino , Idade Gestacional , Humanos , Gravidez , Aderências Teciduais/embriologia , Ultrassonografia Pré-Natal , Cordão Umbilical/diagnóstico por imagem , Cordão Umbilical/embriologiaRESUMO
Perineal groove is a well-defined clinical entity that belongs to a broader group of anorectal malformations. It is characterized by a non-epithelialized mucous membrane that appears as an erythematous sulcus in the perineal midline, extending from the posterior vaginal fourchette to the anterior anal orifice. The defect is gradually cicatrized, unless there are complications like infection, defecation disorders, trauma, and bleeding. The differential diagnosis includes several other conditions like trauma, infection, irritant dermatitis, lichen sclerosis, and ulcerated hemangioma. Since it is a rare malformation, it is often misdiagnosed and its presence often elicits unnecessary diagnostic workup and intervention. In this respect, neonatologists, dermatologists, or pediatric surgeons may under- or overestimate it. We report four cases of perineal groove out of 2250 live births at a Greek Maternity Hospital between September 2016 and April 2019. The "high" incidence of perineal groove cases in our Department allowed us to familiarize with this rare defect and minimize our clinical interventions.