Prenatal ultrasound diagnosis and management of body stalk anomaly: analysis of nine singleton and two multiple pregnancies

Domingues

The Journal of Maternal-Fetal & Neonatal Medicine

et al. 2014

Body stalk anomaly is a rare malformation. This anomaly in monozygotic twins is extremely unusual. We describe a case of monoamniotic pregnancy discordant for body stalk anomaly diagnosed at 11 weeks. Ultrasound showed a fetus with a large anterior abdominal wall defect, anomaly of the spine and no evidence of lower extremities and other with a normal morphology. As far as our concern, only three monoamniotic pregnancies discordant for this malformation were reported. Our case represents the fourth reported monoamniotic pregnancy discordant for body stalk anomaly with diagnosis made by ultrasound and the second diagnosed in the first trimester.

Section: Introductionmentioning

confidence: 71%

Monoamniotic twins discordant for body stalk anomaly

Domingues

The Journal of Maternal-Fetal & Neonatal Medicine

et al. 2014

“…23,24 Body stalk anomaly is a rare and uniformly fatal malformation known to affect singletons as well as multiples. 25 This condition can be diagnosed early in pregnancy because of the large thoracoabdominal anterior body wall defect, small thorax, protruding heart, liver and other viscera. Differential diagnosis should include other anterior wall defects such as gastroschisis or amniotic band sequence.…”

mentioning

confidence: 99%

Monochorionic monoamniotic twins: neonatal outcome

2006

Background: Monochorionic monoamniotic twins (MoMo) occur in one of 10 000 pregnancies. Cord entanglement, malformations, twin-to-twin transfusion syndrome (TTS) and prematurity are responsible for their high perinatal morbidity and mortality.Objective: To report our experience with 36 sets of MoMo twins (1990 to 2005) and to provide updated information for counseling.Methods: Chorionicity was determined by placental examination, gestational age and TTS clinically and by sonography. Intrauterine growth restriction (IUGR) was diagnosed with a twin-specific nomogram.Results: Cord entanglement was observed in 15 pregnancies, but only one twin with entanglement and a true knot, experienced related morbidity. Four of 71 live births were IUGR. Malformations were diagnosed prenatally (one hypoplastic left heart and one body stalk) and postnatally (one vertebral anomalies-anal atresia-tracheoesophageal fistula-renal defect (VATER) and two lung hypoplasias). Twin-to-twin transfusion syndrome affected three sets of twins. Five twin sets delivered before 31, 19 sets at 31 to 32 and 12 sets at 33 to 34 weeks. Six of 71 (8%) twins died (four malformations, one TTS and one 26 weeks premature). Head ultrasounds in 59 of 65 survivors showed two (3%) periventricular leukomalacia, five (9%) Grade I-II intraventricular hemorrhage and 52 (88%) normal.Conclusions: Monochorionic monoamniotic twins remain a group at risk for cord entanglement, congenital malformations, TTS and prematurity. Although their neonatal mortality and morbidity is high, outcomes for survival are better than anticipated.

“…İkinci trimesterde saptanma sıklığı 1/14000 iken birinci trimesterde 1/7500 olarak bildirilmiştir. Bu durum body stalk anomalisinin erken ikinci trimestere kadar olan spontan abortlarla ilişkili olduğunu gösterebilir (6). Birinci trimester tarama testlerinin yaygınlaşması bu tip anomalilerin erken dönemde tanınmasına olanak verir.…”

Section: Discussionunclassified

“…Literatürde anormal karyotip saptanan iki olgu sunulmuştur. Biri 16. kromozomda uniparental dizomi (12) ve diğeri de plasental mozaizm ile ilişkilendirilmiş 2. kromozomda trizomidir (6). İkinci olguda plasental mozaizmin plasental yetmezlikle ilişkili olabileceği ve bu durumun body stalk anomalisi oluşumunda etken olabileceği öne sürülmüştür (6).…”

Section: Discussionunclassified

“…Biri 16. kromozomda uniparental dizomi (12) ve diğeri de plasental mozaizm ile ilişkilendirilmiş 2. kromozomda trizomidir (6). İkinci olguda plasental mozaizmin plasental yetmezlikle ilişkili olabileceği ve bu durumun body stalk anomalisi oluşumunda etken olabileceği öne sürülmüştür (6). Nedeni bilinmeyen intrauterin gelişme geriliği (İUGG) olgularında plasentaya sınırlı mozaikliğin prevalansı %15,7 ile %25 arasında değişmektedir.…”

Section: Discussionunclassified

See 1 more Smart Citation

Birinci Trimesterde Tani Konulan Body Stalk Anomalisi: Olgu Sunumu

Yalçın

Akkurt

Yavuz

et al. 2017

GMJ

ÖZETBody stalk anomalisi nadir görülen konjenital bir anomali olup abdominal duvar defekti, ağır kifoskolyoz ve rudimenter umblikal kord varlığı ile karakterizedir. Omfalosel ve gastroşizis gibi diğer abdominal duvar defektlerinden ayırıcı tanı önemlidir. İzole gastroşizis benign özellik gösterirken body stalk anomalisi normal karyotipe rağmen fatal seyretmektedir. Yirmi iki yaşında gravida 2, parite 1 olgunun yapılan sonografik muayenesinde fetusta karaciğer ve bağırsakları içeren geniş abdominal defekt, ağır kifoskolyoz ve sağ ayakta talipes ekinovarus mevcuttu. Body stalk anomalisi ön tanısı konuldu. Postmortem incelemeler tanımız ile uyumlu idi. Sonuç olarak karın ön duvarı defekti tespit edildiğinde body stalk anomalisi akla gelmeli, sonogramda eşlik eden bulguların varlığı dikkatle araştırılmalı ve böylece aileye doğru prognoz bilgisi sağlanmalıdır. ABSTRACTBody stalk anomaly is a rare congenital anomaly characterized by the presence of an abdominal wall defect, severe kyphoscoliosis and a rudimentary umbilical cord. Differential diagnosis is important from other abdominal wall defects such as omphalocele and gastroschisis. Isolated gastroschisis shows benign property while body stalk anomaly seems fatal despite normal karyotype. A 22-year-old gravida 2, para 1 cases' ultrasound examination showed extensive abdominal defect including liver and intestines of the fetus, severe kyphoscoliosis and right foot talipes equinovarus. Preliminary diagnosis was body stalk anomaly. Postmortem examinations were consistent with the definition. Consequently, when the anterior abdominal wall defect was detected, body stalk anomaly should be remembered, the presence of accompanying symptoms on sonogram should be examined carefully and thus accurate prognosis information should be provided to the family.