Monoamniotic Twin Pregnancy Discordant for Body Stalk Anomaly

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.

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confidence: 51%

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confidence: 79%

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confidence: 99%

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Monoamniotic twins discordant for body stalk anomaly

Domingues

The Journal of Maternal-Fetal & Neonatal Medicine

et al. 2014

American J of Med Genetics Pt C

“…(3) Body stalk anomaly. This has been described in four pairs of MZ twins; in two reports there was concordance, but no chorion status was reported [Shih et al, 1996;Aksoy et al, 2000]; two discordant pairs are also reported [Daskalakis and Nicolaides, 2002;Vidaeff et al, 2005], of which the latter were MC,MA. (4) Caudal mesodermal defects.…”

Section: Article American Journal Of Medical Genetics Part C (Seminarmentioning

confidence: 88%

Non‐identical monozygotic twins, intermediate twin types, zygosity testing, and the non‐random nature of monozygotic twinning: A review

Machin

2009

137

102

Monozygotic twins (MZ) are rarely absolutely “identical.” This review discusses the types of genetic/epigenetic and prenatal environmental post‐zygotic mechanisms that cause discordance within such twin pairs. Some of these mechanisms—ranging from heterokaryotypia to skewed X‐chromosome inactivation—may cause extreme discordance, but these extremes are merely the more emphatic examples of discordance that, to some degree, underlies the majority of MZ twin pairs. Because of the entrenched misconception that MZ twins are necessarily identical, many MZ twin pairs are mistakenly designated as dizygotic (DZ). Clinical benefits to accurate zygosity determination include correct solid organ transplantation matching, if one twin requires donation for a non‐genetically mediated disease; the opportunity of preventive management for disorders that do not manifest synchronously; and better counseling to parents regarding their individually unique, and often psychologically puzzling, twin offspring. In twin pairs with complex and confusing biological origins, more detailed zygosity testing may be required. For example, intermediate trigametic and tetragametic chimeric dizygotic twins are reviewed, some of whom are, nevertheless, monochorionic (MC). Because of inter‐fetal vascular anastomoses in MC twins, genetic results from blood samples may not accurately reflect discordance in solid organs. Previously, it was thought that MZ twinning was some sort of embryological fluke. However, familial monozygotic twinning is more common than suggested by the literature. Seven new families are presented in an accompanying paper. Despite the difficulties and dangers of twin pregnancy (especially so for MC twins), human twinning persists, and continues to both challenge and fascinate parents, clinicians and geneticists. © 2009 Wiley‐Liss, Inc.

American J of Med Genetics Pt A

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

Bugge

2012

Body stalk anomaly is a severe defect of the abdominal wall with uncovered thoracic and/or abdominal organs. The umbilical cord is absent or very short. Here I present epidemiological and clinical data on 16 infants with body stalk anomaly. The 16 infants represent 3.4% of the 469 infants ascertained in an almost complete nationwide data set of live- and stillborn infants born with abdominal wall defects during the two decades 1970-1989 in Denmark. The prevalence was 0.12 per 10,000 live- and stillborn. Nine of the infants were stillbirths, seven were live births, and they all died shortly after birth. The gestational age at birth varied from 33 to 40 weeks. There was an excess of males M/F ratio: 2.2 (CI: 0.85-10.71). All infants had severe associated malformations. Among the most severe were: severe limb reduction defects (56%), absence of one kidney associated with malformations of genitalia and/or urinary bladder (62%), scoliosis (82%), and anal atresia (57%). A normal karyotype was found in all eight of the infants who were tested. There were two sets of twins; one discordant and one concordant. Mean maternal and paternal ages were 28.5 and 29.5 years, respectively, not significantly different from the mean parental ages of the Danish population during the same period.