Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: further evidence for separation.
BACKGROUND
Amniotic rupture sequence (ARS) is a disruption sequence presenting with fibrous bands, possibly emerging as a result of amniotic tear in the first trimester of gestation. Our comparative study aims to assess whether there is a difference in the clinical pattern of congenital limb and internal organ anomalies between ARS with body wall defect (ARS-BWD) and ARS without BWD (ARS-L).


METHODS
Among 1,706,639 births recorded between 1998 and 2006, 50 infants with a diagnosis of ARS were reported to the Polish Registry of Congenital Malformations. The information on 3 infants was incomplete, thus only 47 cases were analyzed. These infants were classified into groups of ARS-L (38 infants) and ARS-BWD (9 infants).


RESULTS
The ARS-BWD cases were more frequently affected by various congenital defects (overall p < 0.0001), and in particular by urogenital malformations (p = 0.003). In both groups, limb reduction defects occurred in approximately 80% of cases; however, minor and distal limb defects (phalangeal or digital amputation, pseudosyndactyly, constriction rings) predominated in the ARS-L group (p = 0.0008). The ARS-L group also had a higher frequency of hand and upper limb involvement.


CONCLUSIONS
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.
Jamsheer
Aleksander
A
Center for Medical Genetics, Department of Medical Genetics, University of Medical Sciences in Poznań, ul. Grunwaldzka 55, Poznań, Poland. jamsheer@wp.pl
Materna-Kiryluk
Anna
A
Badura-Stronka
Magdalena
M
Wiśniewska
Katarzyna
K
Wieckowska
Barbara
B
Mejnartowicz
Jan
J
Balcar-Boroń
Anna
A
Borszewska-Kornacka
Maria
M
Czerwionka-Szaflarska
Mieczysława
M
Gajewska
Elzbieta
E
Godula-Stuglik
Urszula
U
Krawczynski
Marian
M
Limon
Janusz
J
Rusin
Józef
J
Sawulicka-Oleszczuk
Henryka
H
Szwałkiewicz-Warowicka
Ewa
E
Swietliński
Janusz
J
Walczak
Mieczysław
M
Latos-Bieleńska
Anna
A
D000015:Abnormalities, Multiple / Q000453:epidemiology; D000650:Amnion / Q000293:injuries*; D000652:Amniotic Band Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012042:Registries; D012421:Rupture; D018401:Sample Size