A case report of body stalk anomaly complicating a twin pregnancy

Abstract

The body stalk anomaly is described as a maldevelopment during embryonic folding in the third week after conception, resulting in a severe defect of the fetal abdominal wall. The extra-embryonic coelom fails to obliterate and parts of the fetal body remain in an exo-coelomic situation. Reports on its occurrence in multiple pregnancies have in the past focused on concordance between monozygotic twins. We report on a case of a twin pregnancy after fertility treatment that was complicated by a Body Stalk Anomaly in one of the fetuses with a positive neonatal outcome of the unaffected twin.

Body stalk anomaly in Denmark during 20 years (1970–1989)

“…Many authors have reported body stalk anomaly in twin pregnancies: Mann and Ferguson‐Smith [1984] found one pair of twins among 10 cases; Mastroiacovo et al [1992] noted two twin sets among 40 affected pregnancies, while Russo et al [1993] observed one pair of concordant monozygotic twins in eight cases, Craven et al [1997] had one discordant twin pair in five cases, Martinez‐Frias et al [2000] recorded one twin pair among nine cases (11%), and Smrcek et al [2003] found two discordant pairs in 11 cases. Finally there have been a remarkable number of case reports of twins, both concordant and discordant, monozygotic and dizygotics, with the anomaly [Khudr and Benirschke, 1972; Herva and Karkinen‐Jääskeläinen, 1984; Hiett et al, 1992; Glasser et al, 1993; Shih et al, 1996; Daskalakis and Nicolaides, 2002; Kähler et al, 2003; Vidaeff et al, 2005; Cordero et al, 2006; Hrgovic et al, 2007; Spiller et al, 2008]. The high incidence of twin pregnancies among those resulting in body stalk anomaly is in contrast to the more common abdominal wall defects of gastroschisis and omphalocele, where the rate of twins gestation does not differ from that in the general population [Bugge et al, 1994; Bugge, 2010].…”

“…Array‐CGH was not performed on any baby. A number of infants with the anomaly have been karyotyped, and all have had a normal karyotype [Mann and Ferguson‐Smith, 1984; Lockwood et al, 1986; Jauniaux et al, 1990; Giacoia, 1992; Hiett et al, 1992; Glasser et al, 1993; Shih et al, 1996; Craven et al, 1997; Daskalakis et al, 1997; Smrcek et al, 2003; Kähler et al, 2003; Hrgovic et al, 2007; Hunter et al, 2011; Murphy and Platt, 2011]. To my knowledge no infant with body stalk anomaly and abnormal karyotype has been published.…”

Monoamniotic twins discordant for body stalk anomaly

“…When the expectant management is chosen, the outcome of the unaffected fetus should be anticipated [8]. The risk of perinatal morbidity and mortality after spontaneous or iatrogenic pre-term delivery of the unaffected twin must be weighed as well as the possible risks to the surviving twin in the case of intrauterine death of the malformed fetus.…”

Body Stalk Anomaly in a 9-Week Pregnancy

“…Before establishing a final diagnosis, it is important to consider other pathologies that affect the abdominal wall such as omphalocele, gastroschisis, vesical exstrophy, Cantrell pentalogy, amniotic band syndrome, Beckwith-Wiedemann Syndrome, and the OEIS complex (omphalocele, exstrophy of cloaca, imperforate anus, and spinal defects) [11]. …”