Prenatal Ultrasound Assessment and Fetal Heart Monitoring: Analysis of Dizygotic Twins Discordant for Body Stalk Anomaly in the Third Trimester of Pregnancy

Abstract

We describe a case of dizygotic twin pregnancy which was referred to our centre because of a discordant anomaly of one of the twins. The ultrasound examination revealed a large extra-abdominal mass (liver and bowel) with micromelia, severe kyphoscoliosis and a short umbilical cord of the second dizygotic discordant twin. These ultrasound findings were diagnosed as body stalk anomaly. Body stalk anomaly in twins is extremely rare. This is, to our knowledge, one of the few documented cases reported on dizygotic twins discordant for this anomaly. This finding, in association with a decrease of amniotic fluid volume, may be attributed to early amniotic membrane rupture as the primary event in the pathogenesis of body stalk anomaly.

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.…”

Concordant Body Stalk Anomalies in Dichorionic Twins

“…The estimated incidence of body stalk anomalies is 1 per 7500 women undergoing sonography during the first trimester of pregnancy 2 . Body stalk anomalies in twins are extremely rare, 3 and to date, there are no reported cases of body stalk anomalies in both fetuses in a dichorionic twin pregnancy. Here we report an extremely rare case of body stalk anomalies in both fetuses of a dichorionic twin pregnancy.…”

“…The first is the early amnion rupture theory. Torpin proposed that amnion rupture before obliteration of the celomic cavity leads to the formation of fibrous bands from the chorionic surface, causing amniotic band syndrome 3 . In addition, it has been suggested that amnion rupture in early pregnancy before obliteration of the celomic cavity is a highly probable cause in twin pregnancies as well as singleton pregnancies 1 .…”

Body-stalk anomaly. A case report and review of the literature

“…Different studies showed different prevalence: Body-stalk anomaly one multicenter study found the prevalence around 1 in 7500 foetuses at 10-14 weeks of gestation (2) , while in another the prevalence was reported at1 per 32000 births (18)(19)(20)(21)(22)(23)(24) . With more pregnancies obtained by in vitro fertilization techniques secondary to progresses made in this direction, BSA cases are currently being reported in twin pregnancies, either monozygotic or dizygotic (21,25,26) and even in triplet pregnancy (4,8) . There is evidence that supports the association of BSA with maternal abuse of cocaine (6) .…”