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Archivos Argentinos de Pediatria Jun 2018Amniotic bands sequence is a congenital disorder characterized by craniofacial, body wall, and limb anomalies that may be associated with fetalplacental fibrous bands.... (Review)
Review
Amniotic bands sequence is a congenital disorder characterized by craniofacial, body wall, and limb anomalies that may be associated with fetalplacental fibrous bands. Its prevalence has been reported to range from 0.19 to 8.1 per 10 000 births. Different theories have attempted to explain the etiology of amniotic band sequence; however, none has individually been able to support each and every defect observed, so it has been considered to be a multifactorial condition. The (pre- and post-natal) identification of anomalies suggestive of amniotic band sequence is useful for the diagnostic approach and implementation of timely therapeutic interventions favoring the release of the amniotic bands using fetoscopy with recovery of the involved distal limb perfusion, or else the possibility of performing a post-natal surgical repair. It is also helpful to provide genetic counseling. This article offers an update on the epidemiological aspects, etiological theories, risk factors, clinical characteristics, diagnosis (including antenatal diagnosis), genetic counseling, therapeutic approach, and prognosis of amniotic bands sequence.
Topics: Amniotic Band Syndrome; Female; Fetoscopy; Genetic Counseling; Humans; Infant, Newborn; Pregnancy; Prenatal Diagnosis; Prevalence; Prognosis; Risk Factors
PubMed: 29756715
DOI: 10.5546/aap.2018.eng.e409 -
International Journal of Surgery Case... Jun 2022Amniotic band syndrome is a rare disorder, which consists of a combination of malformations in which the main feature is the existence of an amniotic band that can...
Amniotic band syndrome is a rare disorder, which consists of a combination of malformations in which the main feature is the existence of an amniotic band that can envelop the limbs, the body wall, and/or the viscera. We report a case of an antenatal diagnosis of amniotic band syndrome in a 21-year-old female patient at 20 SA + 1 day, who had a medical abortion.
PubMed: 35567876
DOI: 10.1016/j.ijscr.2022.107096 -
American Journal of Medical Genetics.... Jun 2022Limb deficiencies are a common birth defect. A malformations surveillance program among many newborns, stillborn fetuses, and malformed fetuses in elective terminations...
Limb deficiencies are a common birth defect. A malformations surveillance program among many newborns, stillborn fetuses, and malformed fetuses in elective terminations can identify a sufficient number of infants with the same set of abnormalities to characterize a specific limb deficiency phenotype. The active malformations surveillance program was carried out among 289,365 births at Brigham and Women's Hospital in Boston over a 41-year period (1972-2012). The research assistants identified the affected infants and fetuses from reading the findings recorded in each newborn's medical record by the examining pediatricians and consultants and by the pathologists in autopsies. One hundred ninety-four newborn infants and fetuses were found to have a limb deficiency either as an isolated abnormality or as one of multiple malformations. We identified three phenotypes of limb deficiency. We present here the seventeen infants and fetuses with "central digit hypoplasia," a term we suggest for this phenotype: hypoplasia of the thumb and fifth finger with nubbins of soft tissue in place of fingers 2, 3, and 4 at the level of the metacarpal-phalangeal joint. Central digit hypoplasia is to be distinguished primarily from the terminal transverse limb defect that ends at the wrist. In symbrachydactyly, the middle and distal phalanges of the fingers and toes are hypoplastic. In addition, central digit hypoplasia should be distinguished from the amniotic band syndrome, the most common and incorrect diagnosis suggested by the pediatricians and the consultants in this survey. The affected infant and her/his parents benefit from more accurate and specific counseling.
Topics: Abnormalities, Multiple; Amniotic Band Syndrome; Female; Fetus; Fingers; Humans; Infant, Newborn; Limb Deformities, Congenital
PubMed: 35234329
DOI: 10.1002/ajmg.a.62697 -
Plastic and Reconstructive Surgery Aug 2023After studying this article, the participant should be able to: 1. Understand and describe the basic principles underlying the intrinsic versus extrinsic proposed...
LEARNING OBJECTIVES
After studying this article, the participant should be able to: 1. Understand and describe the basic principles underlying the intrinsic versus extrinsic proposed mechanisms for the development of amniotic band syndrome (ABS). 2. Discuss risk factors and conditions that are associated with the development of ABS. 3. Understand the various presentations and associated clinical implications of ABS by anatomic location. 4. Describe the basic tenets underlying various repair technique options for ABS of the extremities. 5. Discuss the common manifestations of ABS in the face and trunk. 6. Understand clinical implications of fetoscopic surgery as it relates to ABS treatment as a novel method for limb salvage in utero.
SUMMARY
Amniotic band syndrome (ABS) refers to the development of constrictive bands of fibrotic tissue in utero. It can lead to a variety of clinical manifestations after delivery. There is much debate in the plastic surgery community regarding the exact pathophysiologic mechanism for the development of ABS, and the most appropriate management. This CME article aims to provide an overview of ABS manifestations throughout the body, and to expound on the most recent advances in anticipatory and definitive management of the condition.
Topics: Infant, Newborn; Pregnancy; Female; Humans; Amniotic Band Syndrome; Fetoscopy; Constriction, Pathologic; Extremities; Toes
PubMed: 37498929
DOI: 10.1097/PRS.0000000000010420 -
American Journal of Medical Genetics.... Apr 2023Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to...
Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe from 1980 to 2019 and to describe the spectrum of congenital anomalies. In addition, we investigated maternal age and multiple birth as possible risk factors for the occurrence of ABS and LBWC. We used data from the European surveillance of congenital anomalies (EUROCAT) network including data from 30 registries over 1980-2019. We included all pregnancy outcomes, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. ABS and LBWC cases were extracted from the central EUROCAT database using coding information responses from the registries. In total, 866 ABS cases and 451 LBWC cases were included in this study. The mean prevalence was 0.53/10,000 births for ABS and 0.34/10,000 births for LBWC during the 40 years. Prevalence of both ABS and LBWC was lower in the 1980s and higher in the United Kingdom. Limb anomalies and neural tube defects were commonly seen in ABS, whereas in LBWC abdominal and thoracic wall defects and limb anomalies were most prevalent. Twinning was confirmed as a risk factor for both ABS and LBWC. This study includes the largest cohort of ABS and LBWC cases ever reported over a large time period using standardized EUROCAT data. Prevalence, clinical characteristics, and the phenotypic spectrum are described, and twinning is confirmed as a risk factor.
Topics: Pregnancy; Humans; Female; Infant, Newborn; Amniotic Band Syndrome; Abnormalities, Multiple; Europe; Maternal Age; Stillbirth; Registries; Prevalence
PubMed: 36584346
DOI: 10.1002/ajmg.a.63107 -
Journal of Clinical Ultrasound : JCU Jan 2023Antenatal detection of limb anomalies is not uncommon, and pregnancies are usually terminated in view of the expected physical handicap. The aim of this retrospective... (Observational Study)
Observational Study
PURPOSE
Antenatal detection of limb anomalies is not uncommon, and pregnancies are usually terminated in view of the expected physical handicap. The aim of this retrospective observational study is to delineate the spectrum of fetal limb anomalies and provide evidence in support of complete postnatal evaluation in establishing recurrence risk.
METHODS
We present 54 cases of limb malformations detected antenatally and discuss the spectrum of abnormalities, the utility of fetal autopsy, and genetic testing to establish recurrence risk in subsequent pregnancies.
RESULTS
16/54 cases were isolated radial ray anomalies. There were five cases of amniotic band syndrome, five limb body wall complex cases, three VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) associations, one case of sirenomelia, two cases of limb pelvis hypoplasia, and one case of OEIS (Omphalocele Exstrophy Imperforate anus and spinal defects). Four fetuses with non-isolated radial ray anomaly had trisomy 18. One case with bilateral radial ray defect had a mutation in the FANC-E gene confirming fanconi anemia. Twelve cases were unclassified.
CONCLUSION
Autopsy is the most important investigation in fetuses with limb anomalies. We suggest chromosomal microarray (CMA) as a first-tier test after autopsy. However, in cases of bilaterally symmetrical limb anomalies, in case of previous similarly affected child, or history of consanguinity, whole exome sequencing (WES) can be offered as the primary investigation, followed by CMA if WES is normal.
Topics: Female; Humans; Pregnancy; Fetus; Heart Defects, Congenital; Kidney; Limb Deformities, Congenital; Trachea; Tracheoesophageal Fistula; Prenatal Diagnosis
PubMed: 36639848
DOI: 10.1002/jcu.23273 -
Taiwanese Journal of Obstetrics &... Jan 2024Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive... (Review)
Review
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome. This review provides an overview of chromosomal abnormalities associated with fetal megacystis which is useful for genetic counseling and fetal therapy at prenatal diagnosis of fetal megacystis.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Diabetes, Gestational; Fetal Macrosomia; Abnormalities, Multiple; Chromosome Aberrations; Urinary Bladder; Duodenum; Fetal Diseases
PubMed: 38216262
DOI: 10.1016/j.tjog.2023.11.006 -
Clinical Case Reports Aug 2023Amniotic band sequence (ABS) should be on the differential for newborns with limb defects. ABS is diagnosable prenatally with prenatal ultrasound; however, there are...
KEY CLINICAL MESSAGE
Amniotic band sequence (ABS) should be on the differential for newborns with limb defects. ABS is diagnosable prenatally with prenatal ultrasound; however, there are cases where the diagnosis of ABS is made only after delivery of the newborn.
ABSTRACT
Amniotic band sequence (ABS) is an uncommon congenital disorder where strands of amniotic tissue cause entrapment of the limbs, body wall, and viscera leading to an array of congenital malformations. We report a case of a newborn with prenatally undiagnosed amniotic band sequence.
PubMed: 37621726
DOI: 10.1002/ccr3.7655 -
Eye (London, England) Mar 2024The amniotic membrane is a single epithelial layer of the placenta. It has anti-inflammatory, anti-scarring, anti-angiogenic and possibly bactericidal properties. The... (Review)
Review
The amniotic membrane is a single epithelial layer of the placenta. It has anti-inflammatory, anti-scarring, anti-angiogenic and possibly bactericidal properties. The basement membrane of the amniotic membrane acts as a substrate to encourage healing and re-epithelialisation. It has been used in many ocular surface diseases including persistent epithelial defects (corneal or conjunctival), chemical or thermal burns, limbal stem cell deficiency, cicatrising conjunctivitis, ocular graft versus host disease, microbial keratitis, corneal perforation, bullous keratopathy, dry eye disease, corneal haze following refractive surgery and cross-linking, band keratopathy, ocular surface neoplasia, pterygium surgery, and ligneous conjunctivitis. This review provides an up-to-date overview of amniotic membrane transplantation including the structural and biological properties, preparation and application, clinical indications, and commercially available products.
Topics: Female; Pregnancy; Humans; Amnion; Eye Diseases; Cornea; Conjunctivitis; Corneal Dystrophies, Hereditary; Corneal Diseases
PubMed: 37875701
DOI: 10.1038/s41433-023-02777-5 -
Birth Defects Research Aug 2020Amniotic band syndrome (ABS) includes limb deficiencies accompanied by fibrous strands originating from the amniotic lining. Terminal transverse limb deficiencies (TTLD)...
INTRODUCTION
Amniotic band syndrome (ABS) includes limb deficiencies accompanied by fibrous strands originating from the amniotic lining. Terminal transverse limb deficiencies (TTLD) appear to be similar but lack fibrous strands. Both are hypothesized to result from vascular disruption. For ABS, limb deficiencies are considered secondary to amnion rupture. We explored an alternative possibility-that TTLD is the primary defect and ABS is secondary.
METHODS
Using data from the National Birth Defects Prevention Study, we expanded on a previous study. We examined smoking, alcohol, and medications categorized by indicated vasoactivity as markers of vascular disruption. Logistic regression models with Firth's penalized likelihood were used to estimate adjusted odds ratios (aORs) and 95% confidence intervals (CIs).
RESULTS
Use of bronchodilators and aspirin appeared to increase the risk of ABS, while decongestants and nonaspirin NSAIDs increased the risk of TTLD. The risk of ABS was markedly increased in cases reporting combinations of vasoactive exposures, particularly alcohol and aspirin (aOR 3.7, 95% CI 1.6, 7.8), and alcohol and bronchodilators (aOR 3.4, 95% CI 1.4, 7.5). Increased risk of TTLD due to combinations of vasoactive exposures was only observed for smoking and decongestants (aOR 2.3, 95% CI 1.4, 3.6).
CONCLUSIONS
Exposures associated with increased risk of ABS had no apparent association with TTLD, supporting previous evidence that these may be distinct phenotypes. ABS appears to be associated with combined exposures with vasodilation properties, such as alcohol and bronchodilators, while increased risk of TTLD may be associated with smoking and decongestants, both vasoconstrictive exposures.
Topics: Amniotic Band Syndrome; Humans; Infant, Newborn; Odds Ratio; Smoking
PubMed: 32573119
DOI: 10.1002/bdr2.1740