Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: Further evidence for separation

Jamsheer, Aleksander; Materna‐Kiryluk, Anna; Badura‐Stronka, Magdalena; Wiśniewska, Katarzyna; Więckowska, Barbara; Mejnartowicz, Jan P.; Balcar-Boroń, A; Borszewska−Kornacka, Maria Katarzyna; Czerwionka‐Szaflarska, Mieczysława; Gajewska, E; Godula‐Stuglik, Urszula; Krawczyński, Marian; Limon, Janusz; Rusin, Józef; Sawulicka-Oleszczuk, H; Szwałkiewicz-Warowicka, Ewa; Swietliński, Janusz; Walczak, Mieczysław; Latos‐Bieleńska, Anna

doi:10.1002/bdra.20555

Cited by 10 publications

(8 citation statements)

References 19 publications

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“…ACASS only classified deficiencies of the phalanges as digital deficiencies, while other authors may have included deficiencies of the metacarpals/metatarsals as digital deficiencies. Most of our cases with BWD did not have digital deficiencies which was also the case for Jamsheer et al [] and Orioli et al [] but had more severe limb deficiencies such as complex types or total limb deficiencies as defined in Bedard et al [] (Table ). This supports the argument by Martinez‐Frias [] that the amniotic bands in cases with BWD should be considered different from those without BWD.…”

Section: Discussionsupporting

confidence: 76%

“…Digital deficiencies were the most frequent particularly for cases with amniotic bands and limb deficiency (Table ). However, the proportion with digital deficiencies is lower than that reported by Froster and Baird [] and Jamsheer et al []. The variation may be attributed to small numbers and/or to differences in classification.…”

Section: Discussioncontrasting

confidence: 53%

“…Ossipoff and Hall [] described seven groups. Jamsheer et al [] suggested two groups: (i) ARS with BWD and (ii) ARS without BWD concluding that they are nosologically different entities and thus confirming earlier observations by Martinez‐Frias []. Guzman‐Huerta et al [] proposed a new classification of four groups: (i) craniofacial with limb defects; (ii) craniofacial, limb defect, and body wall defect; (iii) limb defects and BWD; and (iv) isolated craniofacial, limb, or body wall defects associated with amniotic band sequence.…”

Section: Introductionmentioning

confidence: 53%

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The prevalence of amnion rupture sequence, limb body wall defects and body wall defects in Alberta 1980–2012 with a review of risk factors and familial cases

Lowry

Bedard

Sibbald

2016

American J of Med Genetics Pt A

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Prevalence rates of amnion rupture sequence, limb body wall defect, and body wall defects vary widely. Comparisons are difficult due to small case numbers and the lack of agreement of definition, classification, and pathogenesis. This study reports the prevalence of cases classified in five distinct categories. The Alberta Congenital Anomalies Surveillance System data on live births, stillbirths, and terminations of pregnancy (<20 weeks gestation) occurring between 1980 through 2012 with the ICD-10 Royal College of Paediatrics and Child Health Adaptation codes used for congenital constriction bands (Q79.80) and body wall complex (Q89.7) were reviewed. During the 33-year-study period, there were 153 eligible cases ascertained from 1,411,652 live births and stillbirths, giving a prevalence of 1.08/10,000 total births. There were more males (52%) than females (45%) and 3% were of unknown sex. The average maternal age, birth weight, and gestation was 27 years, 2,701 g, and 35 weeks, respectively. Limb deficiencies occurred in 78% of cases. Amniotic bands with limb deficiency was the most common phenotype (48%). Digital limb deficiency was the most frequent type (56%); however, cases with body wall defects had more severe types of limb deficiencies. The upper limbs only were affected more times (44%), and there was no side preference. Most cases are sporadic but a number of familial occurrences have been reported although some have insufficient documentation and others misdiagnosed. A review of putative risk factors gives conflicting results. © 2016 Wiley Periodicals, Inc.

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Section: Discussionsupporting

confidence: 76%

Section: Discussioncontrasting

confidence: 53%

Section: Introductionmentioning

confidence: 53%

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The prevalence of amnion rupture sequence, limb body wall defects and body wall defects in Alberta 1980–2012 with a review of risk factors and familial cases

Lowry

Bedard

Sibbald

2016

American J of Med Genetics Pt A

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“…For instance, on an epidemiological basis, Martinez-Frias (1997b) concluded that the body wall complex (BWC) consisted in a BWD with or without AB and that AB with a BWD have a different origin than those without such a defect (Martinez-Frias, 1997a). Jamsheer et al (2009) shared this last conclusion. However, Levy, Lacombe, Rougier, and Camus (2007) reported the occurrence of AB in two sibs; one of them also presented a BWD, exencephaly, and limb deficiencies, the other only minor digital amputations and constriction rings, shedding doubts on this conclusion.…”

Section: Funding Informationmentioning

confidence: 97%

Limb body wall complex: Its delineation and relationship with amniotic bands using clustering methods

Rittler

Campaña

Poletta

et al. 2018

Birth Defects Research

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Background Despite the numerous reports on the limb body wall complex (LBWC), this association has never been adequately defined. Amniotic bands (AB) are frequently present but their role remains unclear. Since most reports were based on clinical and often subjective diagnoses, the aim of this work was to define LBWC and the role of AB, minimizing subjectivity. Methods Data were obtained from the ECLAMC maternity hospitals network database. A total of 450 live and stillborn infants, born during 1967–2013, with AB or the LBWC were selected. A hierarchical cluster analysis was used to classify cases into homogeneous groups (sharing similar associated defects); robustness of the classification was confirmed with a discriminant analysis. The frequency of associated defects was compared among groups; those whose frequency differed significantly were included in a logistic regression to establish their association within each group. Results The cluster analysis identified two groups: a body wall defect (BWD) predominating in one, AB in the other. These groups were further divided into: BWD (cases with only BWD), AB (with only AB), BWD + AB, and NONE (with neither). Association with caudal defects and lower limb amelia was observed for BWD, with cephalic defects and upper limb amputations for BWD + AB. Conclusions The results, obtained with the least possible subjectivity, indicated that BWD and BWD + AB are different conditions. Since BWD specifically associates with amelia, we propose that this defect and not any limb deficiency should be considered as inclusion criterium and that it should be included in the BWD acronym as LBWC.

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“…5,6 Anomalies are limited to external structures with or without body wall disruption or internal malformations that vary in severity and location. [7][8][9] Some authors consider ABS separately from the limb-body wall complex (LBWC), body wall defects (BWD) or the body wall complex (BWC), [10][11][12] whereas others believe these are all part of the same disease. [13][14][15][16] …”

Section: Introductionmentioning

confidence: 99%

An update on amniotic bands sequence

López-Muñoz

Becerra-Solano

2018

Arch Argent Pediatr

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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.

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Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: Further evidence for separation

Abstract: This observation suggests that amniotic band adhesion in ARS-L takes place at a later development stage. Although limited by a small sample size, our study contributes to the growing evidence that both ARS entities represent two nosologically distinct conditions.

Cited by 10 publications

References 19 publications

The prevalence of amnion rupture sequence, limb body wall defects and body wall defects in Alberta 1980–2012 with a review of risk factors and familial cases

The prevalence of amnion rupture sequence, limb body wall defects and body wall defects in Alberta 1980–2012 with a review of risk factors and familial cases

Limb body wall complex: Its delineation and relationship with amniotic bands using clustering methods

An update on amniotic bands sequence

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