-
European Journal of Medical Genetics Oct 2022The association between vascular Ehlers-Danlos Syndrome (vEDS) and amniotic band sequence (ABS) has been previously reported in the literature, mostly in single patient... (Review)
Review
The association between vascular Ehlers-Danlos Syndrome (vEDS) and amniotic band sequence (ABS) has been previously reported in the literature, mostly in single patient case reports. Here, we aim to extend the current knowledge of this association through a case series of five unrelated individuals with ABS in association with molecularly confirmed vEDS, in addition to undertaking a comprehensive literature review. All the individuals were recruited through the EDS national diagnostic service in the UK following appropriate history, physical examination and genetic investigations. Clinical presentation ranged from a single constriction ring to complex craniofacial clefts to limb reduction deformities, reflecting the spectrum of ABS presentation. vEDS was inherited paternally (n = 2), maternally (n = 2) and de novo (n = 1). Previously, maternal vEDS was considered the risk factor for ABS, but our findings suggest that it may be the disease status of the fetus which poses the main risk. It is established that amniotic membrane is derived from fetal tissue, which supports our conclusions. Our observations suggest the increased risk of ABS in fetuses with vEDS. Therefore, exploring family history and features that may suggest vEDS diagnosis in patients with ABS might be useful. We also recommend that a collaborative international study would be useful to help gain a better insight into this association.
Topics: Amniotic Band Syndrome; Collagen Type III; Diagnostic Services; Ehlers-Danlos Syndrome; Humans; United Kingdom
PubMed: 35964932
DOI: 10.1016/j.ejmg.2022.104592 -
AJR. American Journal of Roentgenology Jan 2020The purpose of this article is to describe the imaging findings associated with complex fetal abdominal wall defects and provide an algorithmic method for arriving at a... (Review)
Review
The purpose of this article is to describe the imaging findings associated with complex fetal abdominal wall defects and provide an algorithmic method for arriving at a final diagnosis. Fetal ventral abdominal wall defects are a complex group of conditions with a broad spectrum of associated multisystem anomalies and manifestations. Correct characterization and classification of these defects require not only familiarity with imaging findings but also a systematic approach to avoid diagnostic confusion.
Topics: Abdominal Wall; Algorithms; Female; Fetus; Humans; Pregnancy; Ultrasonography, Prenatal
PubMed: 31714849
DOI: 10.2214/AJR.19.21627 -
Acta Ortopedica Mexicana 2024Amniotic band syndrome (ABS) and clubfoot are distinct congenital musculoskeletal conditions that can occasionally co-occur, creating unique challenges in their... (Review)
Review
Amniotic band syndrome (ABS) and clubfoot are distinct congenital musculoskeletal conditions that can occasionally co-occur, creating unique challenges in their management. This paper summarizes the comprehensive discussion on the management of amniotic band syndrome (ABS) and clubfoot, emphasizing the critical role of the Ponseti method and the challenges faced in treatment, thereby providing a basis for further research and improved patient care.
Topics: Clubfoot; Humans; Amniotic Band Syndrome; Infant, Newborn; Infant; Casts, Surgical
PubMed: 38657150
DOI: No ID Found -
Prenatal Diagnosis Jul 2015Fetoscopic coagulation of placental anastomoses is the treatment of choice for severe twin-to-twin transfusion syndrome. In the present day, fetal laser therapy is also... (Review)
Review
Fetoscopic coagulation of placental anastomoses is the treatment of choice for severe twin-to-twin transfusion syndrome. In the present day, fetal laser therapy is also used to treat amniotic bands, chorioangiomas, sacrococcygeal teratomas, lower urinary tract obstructions and chest masses, all of which will be reviewed in this article. Amniotic band syndrome can cause limb amputation by impairing downstream blood flow. Large chorioangiomas (>4 cm), sacrococcygeal teratomas or fetal hyperechoic lung lesions can lead to fetal compromise and hydrops by vascular steal phenomenon or compression. Renal damage, bladder dysfunction and lastly death because of pulmonary hypolasia may be the result of megacystis caused by a posterior urethral valve. The prognosis of these pathologies can be dismal, and therapy options are limited, which has brought fetal laser therapy to the forefront. Management options discussed here are laser release of amniotic bands, laser coagulation of the placental or fetal tumor feeding vessels and laser therapy by fetal cystoscopy. This review, largely based on case reports, does not intend to provide a level of evidence supporting laser therapy over other treatment options. Centralized evaluation by specialists using strict selection criteria and long-term follow-up of these rare cases are now needed to prove the value of endoscopic or ultrasound-guided laser therapy.
Topics: Female; Fetal Diseases; Fetal Therapies; Fetoscopy; Humans; Lasers, Semiconductor; Lasers, Solid-State; Pregnancy; Ultrasonography, Interventional; Ultrasonography, Prenatal
PubMed: 25736523
DOI: 10.1002/pd.4587 -
Journal of Pediatric Orthopedics Aug 2022To assess the diagnostic accuracy of public representation of congenital differences of the upper extremities. We hypothesized that there is an over-diagnosis of certain...
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.
Topics: Amniotic Band Syndrome; Arm; Artificial Limbs; Humans; Infant, Newborn; Upper Extremity
PubMed: 35576061
DOI: 10.1097/BPO.0000000000002185 -
Cureus Nov 2022Amniotic constriction band (ACB) is an uncommon clinical concept with different presentations specific to each patient with clinical symptoms may include ring...
Amniotic constriction band (ACB) is an uncommon clinical concept with different presentations specific to each patient with clinical symptoms may include ring constrictions, digital defects, natural limb amputations, and visceral defects. The etiology of this defect is not fully understood. We present a full-term newborn boy who was born by vaginal delivery to a healthy mother. At birth, amniotic bands encircled and constricted his upper and lower limbs. At two and six months of gestation, the mother gave a unique obstetric history of recurrent exposure to her infected daughter, which was diagnosed later as a case of atypical . This raises suspicion that may play a critical role in the pathogenesis of ACB and the hypothesis related to its origin. The inquiry in our case is whether might have been a non-aberrant teratogen and caused subclinical chorioamnionitis that leads to early rupture of amniotic membranes and result in the proposed defects. As far as we know, this is the first case reported in the literature that combines gestational exposure to and postpartum isolated amniotic constrictions and minor digital defects in Saudi Arabia newborns. In addition, we discussed the possible underlying causes and reviewed the published literature on this defect.
PubMed: 36523735
DOI: 10.7759/cureus.31410 -
The Cleft Palate-craniofacial Journal :... Aug 2023Cases of severe bilateral Tessier 4 cleft with unilateral Tessier 3 cleft and additional involvement of the amniotic band syndrome are rarer. This case reports a very...
Cases of severe bilateral Tessier 4 cleft with unilateral Tessier 3 cleft and additional involvement of the amniotic band syndrome are rarer. This case reports a very rare case of ABS with severe facial cleft. Postoperative progress was satisfactory and the patient achieved functional recovery. The patient underwent several miner reconstructive surgeries and appropriate surgical treatment is necessary to restore the patient's social life.
PubMed: 37654054
DOI: 10.1177/10556656231199648 -
Birth Defects Research Jan 2018Several malformations have been attributed to the process of vascular disruption. The central hypothesis for this etiology is that blood flow to a structure has been...
BACKGROUND
Several malformations have been attributed to the process of vascular disruption. The central hypothesis for this etiology is that blood flow to a structure has been altered after that structure had formed normally. The decreased blood flow leads to hypoxia, endothelial cell damage, hemorrhage, tissue loss, and repair. After recovery, some structures are normal and others show either tissue loss or structural abnormalities, such as syndactyly and constriction rings.
METHODS
The phenotypic features of the 7,020 infants with one or more malformations, who were born to women who had always planned to deliver at Brigham and Women's Hospital (BWH) between, 1972 and 2012, that is, maternal nontransfers, were reviewed. The phenotypes associated with vascular disruption, such as the amniotic band syndrome and terminal transverse limb defects (TTLD), were identified.
RESULTS
One hundred and five fetuses and infants had malformations attributed to the process of vascular disruption. Some specific causes of the amniotic band limb deformity were identified. TTLD with associated small digit-like nubbins occurred at three levels: proximal forearm, wrist, and metacarpal-phalangeal joint. Other causes included severe hemoglobinopathies and exposures to misoprostol and to prenatal procedures.
CONCLUSIONS
Malformations attributed to the process of vascular disruption were a distinctive entity, among the recognized etiologies. The timing of the causative event in the first trimester was established for infants with exposures to either the prostaglandin misoprostol or the prenatal diagnosis procedure chorionic villus sampling. One challenge is to identify the developmental steps in vascular disruption when no causative exposure can be identified.
Topics: Amniotic Band Syndrome; Cell Hypoxia; Female; Hemoglobinopathies; Humans; Hydranencephaly; Infant, Newborn; Limb Deformities, Congenital; Misoprostol; Poland Syndrome; Pregnancy; Prenatal Diagnosis; Regional Blood Flow; Vascular Malformations
PubMed: 29377641
DOI: 10.1002/bdr2.1160 -
Ulusal Travma Ve Acil Cerrahi Dergisi =... May 2023Ichthyosis is caused by Mendelian cornification disorders. Hereditary ichthyoses are divided into non-syndromic and syndromic ichthy-oses. Amniotic band syndrome...
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.
Topics: Male; Pregnancy; Infant, Newborn; Female; Humans; Amniotic Band Syndrome; Ichthyosis; Skin; Prenatal Diagnosis; Fingers
PubMed: 37145046
DOI: 10.14744/tjtes.2022.34663 -
Current Opinion in Anaesthesiology Jun 2019The aim of this study was to review the current literature on anesthesia for predelivery procedures and to summarize recent findings on anesthesiological methods used. (Review)
Review
PURPOSE OF REVIEW
The aim of this study was to review the current literature on anesthesia for predelivery procedures and to summarize recent findings on anesthesiological methods used.
RECENT FINDINGS
Ex-utero intrapartum treatment (EXIT)-procedures are performed to secure the newborn's oxygenation in case of severe airway obstruction due to multiple conditions. A key feature of EXIT is continued intactness of the maternofetal circulation by uterine relaxation achieved by general anesthesia with high doses of anesthetic gases. A dose reduction may be achieved by combining inhaled anesthesia with propofol. After intrauterine transfusion the anesthesia team needs to be prepared for a potential need of emergency cesarean section. Temporary fetal endoluminal tracheal occlusion and laser coagulation for twin-to-twin transfusion syndrome may be either performed in monitored anesthesia care or neuraxial anesthesia. Neuraxial anesthesia also is a method of choice for fetal valvuloplasty and amniotic band release. Fetal myelomenigocele repair requires general anesthesia with tocolysis.
SUMMARY
Predelivery procedures require a differentiated anesthesia approach depending on the invasiveness of the intervention. Anesthesia ranges from monitored care to neuraxial anesthesia and general anesthesia. Depending on the procedure uterine relaxation and fetal immobilization are crucial for technical success. Interdisciplinary consultation optimizes the anesthesia plan for complex procedures.
Topics: Airway Obstruction; Anesthesia, General; Anesthetics, Inhalation; Dose-Response Relationship, Drug; Female; Fetal Diseases; Fetal Therapies; Humans; Nerve Block; Patient Care Planning; Patient Care Team; Placental Circulation; Pregnancy
PubMed: 31045636
DOI: 10.1097/ACO.0000000000000718