First trimester diagnosis of body stalk anomaly complicated by ectopia cordis

Yang, Yi; Wang, Hong; Wang, Zhenpeng; Pan, Xuefeng; Chen, Ying

doi:10.1177/0300060520980210

Cited by 6 publications

(6 citation statements)

References 14 publications

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“…Ectopia cordis is defined as partial or complete displacement of the heart outside of the thoracic cavity. 6 In this case, the cardiac activity is detected within the omphalocele, therefore it is EC. Since the current case comprises both omphalocele and EC anomalies, the diagnosis of POC can be established.…”

Section: Discussionmentioning

confidence: 87%

Pentalogy of Cantrell With a Maxillary Gap Identified at 12 Weeks of Gestation

Yang¹,

Rahmani

Li³

2022

Journal of Diagnostic Medical Sonography

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Pentalogy of Cantrell (POC) is a rare syndrome, with an omphalocele and ectopia cordis (EC) being pathognomonic anomalies. In this case report, a 12-week fetus, for nuchal translucency (NT) assessment, displayed a sac protruding through the midline of the fetal abdomen and lower thorax. The fetus’ cardiac activity was detected within the sac. These sonographic appearances are consistent with omphalocele and EC, respectively. A thickened NT and cystic hygroma (CH) were also identified. An important finding was a 1.8 mm maxillary gap (MG), which is a new marker for possible early diagnosis of cleft lip and palate (CLP), in the first trimester. The coexistence of a MG with POC is unique.

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Section: Discussionmentioning

confidence: 87%

Pentalogy of Cantrell With a Maxillary Gap Identified at 12 Weeks of Gestation

Yang¹,

Rahmani

Li³

2022

Journal of Diagnostic Medical Sonography

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“…Two phenotypically distinct groups are described in literature based on the part of the body attached to the placenta. (a) Placenta-cranial is when craniofacial defects (encephalocele, exencephaly) predominate and are seen attached to the placenta by amniotic bands [4,15]. In addition, upper limb defects, as well as thoracoschisis, are common [15].…”

Section: Discussionmentioning

confidence: 99%

“…Body Stalk Anomaly is a sporadic condition as there is no known underlying genetic cause [8,16]. First-trimester ultrasonography can detect this anomaly even with a 2D grayscale without using a 3D machine [17,4]. This is useful, especially in sub-Saharan Africa, where 2D ultrasounds are more readily available than 3D units.…”

Section: Discussionmentioning

confidence: 99%

“…The anomaly presents a large abdominal wall defect and severe kyphoscoliosis with either a short or rudimentary umbilical cord [3]. The incidence ranges from 1 per 14,000 to 1 per 31,000 pregnancies [4,5]. For example, a multi-centre study by Daskalakis et al reported an incidence of 1 per 7500 pregnancies based on first-trimester ultrasound prenatal diagnosis [6].…”

Section: Introductionmentioning

confidence: 99%

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Monoamniotic twin pregnancy discordant for body stalk anomaly: a case report

2022

HSI Journal

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Body stalk anomaly, also known as limb-body syndrome, is a rare and lethal congenital anomaly. It presents a major abdominal wall defect and severe kyphosis with either a rudimentary or absent umbilical cord. We present a case of monoamniotic twin discordant for body stalk anomaly diagnosed at 27 weeks. Ultrasound findings demonstrated a normal Twin A, but Twin B was abnormal with a large ventral wall defect and severe kyphoscoliosis. The pregnancy was managed conservatively and concluded with an emergency caesarean section at 31 weeks on account of preterm labour. The unaffected twin survived with no significant morbidity. This case highlights some of the challenges posed to the obstetrician in managing such a rare anomaly in twin pregnancy.

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“…However, certain risk factors have been identified, such as lower socioeconomic status, maternal substance abuse (particularly cocaine), maternal diabetes and maternal hemorrhagic disorders [ 1 ]. It is important to note that body stalk anomalies are typically not linked to chromosomal abnormalities, although genetic defects related to embryonic development may contribute to their occurrence [ 1 , 2 , 3 , 4 , 5 , 6 ]. The prevalence of this condition is 1 in 14,000 live births [ 2 ].…”

mentioning

confidence: 99%

Body Stalk Anomaly

Gică,

Apostol,

Huluță

et al. 2024

Diagnostics

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Abdominal wall defects encompass three primary classifications: gastroschisis, omphalocele and anomalies resembling body stalk. Potential causative factors include early amnion rupture, amniotic bands, vascular disruptions or abnormal folding of the embryo. The prevalence of these defects stands at 1 in 14,000 live births. Body stalk anomaly is characterized by a substantial abdominal defect coupled with spine and limb anomalies, along with a very short or absent umbilical cord. We present a case of a rare abdominal defect known as body stalk anomaly, the most severe form of this spectrum of diseases. The diagnosis of this anomaly was established during the first trimester of pregnancy. Subsequently, the patient opted for pregnancy termination and chose not to undergo genetic testing. The anatomo-pathological results confirmed the findings. Body stalk anomaly is not compatible with life; therefore, early identification and understanding the clinical implications of this rare anomaly for informed decision-making in prenatal care are very important.

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First trimester diagnosis of body stalk anomaly complicated by ectopia cordis

Cited by 6 publications

References 14 publications

Pentalogy of Cantrell With a Maxillary Gap Identified at 12 Weeks of Gestation

Pentalogy of Cantrell With a Maxillary Gap Identified at 12 Weeks of Gestation

Monoamniotic twin pregnancy discordant for body stalk anomaly: a case report

Body Stalk Anomaly

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