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

Abstract

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.

Congenital limb deficiencies and major associated anomalies in Alberta for the years 1980–2012

“…When an associated major anomaly was present, minor anomalies were counted and used in the clinical review. Major anomalies for this paper did not include chromosome anomalies, Mendelian and recognized conditions, amnion rupture sequence/limb body wall anomalies, and cases with anomalies caused by known teratogens, which have previously been reported (Bedard et al, ; Lowry, Bedard, & Sibbald, ). Cases that were diagnosed with prenatal ultrasound without postnatal confirmation were also excluded.…”

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

“…Inclusion criteria also varied among authors. While all 15 patients in the Pagon et al (1979) report had severe limb reductions, other authors have also included deformities and minor defects (Lowry, Bedard, & Sibbald, 2017;Russo, Armiento, Angrisani, & Vecchione, 1993;Van Allen et al, 1987).…”

An update on amniotic bands sequence

“…This is the case of exome sequencing; however, it has successfully identified mutations in predominantly Mendelian phenotypes with high penetration alleles, whereas ABS may be caused by a combination of DNA variants, so it is necessary to perform a family-wide analysis and assess functional pathways that may be involved in ABS development to select the variants that should be validated by Sanger sequencing and, therefore, replicate the sequencing method in the family or the control population. 27,71 • Black population 73 • Unplanned or unintended pregnancy 16,27 • Smoking (> 15 cigarettes/day) 27,[70][71][72][73][74] • Exposure to cocaine 75,76 • Alcohol abuse 28 • High glycemic index in the diet 77 • Living in an attitudinal zone > 2000 meters above sea level 29,78 Obstetric factors • Nulliparity 15,21,26,71,73 • Multiparity…”

“…[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] …”

“…• Attempted abortion 16,27 • Uterine or abdominal trauma 79 • Bicornate uterus 76,77 • Uterine fibroids 80,81 • Ectopic pregnancy in one of the Fallopian tubes 80,81 • Hemorrhage during the first trimester of gestation 29 • • Preterm birth 27,86 • Low birth weight for gestational age 27,86 Systemic factors • Fever during the first trimester of gestation 29 • Diabetes 87 • Obesity…”