An Acephalus Acardius Amorphous Fetus in a Monochorionic Pregnancy With Sex Discrepancy

Lattanzi, Wanda; Vincenzo, Rosa De; De-Giorgio, Fabio; Stigliano, Egidio; Capelli, Arnaldo; Arena, Vincenzo

doi:10.1375/183242706778553453

Cited by 5 publications

(6 citation statements)

References 30 publications

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“…All available articles were case reports. A description of each case is provided in two tables: Table 2 describes case reports on spontaneously conceived monochorionic dizygotic twins [4][5][6][7][8][9][10][11][12][13][14][15][16][17], while Table 3 describes case reports on monochorionic dizygotic twins conceived after ovulation induction [18][19][20][21]. The mean maternal age at delivery in the group of spontaneously conceived monochorionic dizygotic twins was 31.08 weeks (SD ± 4.69).…”

Section: Discussionmentioning

confidence: 99%

“…The sonographic assessment of chorionicity was established in the first trimester in 11 cases [5,6,[8][9][10][11][12][13][14][15][16]. Follow-up scans revealed the following complications during pregnancy: 2 cases of Twin-to-Twin Transfusion syndrome (TTTS) [5,14], 1 case of Twin Reversed Arterial Perfusion sequence (TRAP) [7], 1 case of Twin Anemia Polycythemia sequence (TAPS) [13] and 1 case of discordant growth pattern [10]. Sex discordance between twins in monochorionic pregnancy was reported in 4 cases [12,13,15,16].…”

Section: Discussionmentioning

confidence: 99%

“…Amniocentesis was performed to validate dizygosity in 2 cases [12,15], while in 1 case it was done to exclude trisomy 21 [6]. Out of 14 cases reported, 1 case underwent miscarriage after laser procedure performed at 18 weeks gestation for TTTS [5], 1 case underwent a voluntary termination of pregnancy because of the diagnosis of trisomy 21 in one twin [6], 6 cases had a cesarean delivery which occurred at a mean gestational age of 35.83 weeks (SD ± 2.31) [9,11,12,[14][15][16], 3 cases had a spontaneous vaginal delivery at a mean gestational age of 35 weeks (SD ± 2.64) [7,8,10] and 3 cases did not report the delivery mode [4,13,17]. A monochorionic pregnancy was confirmed at gross examination in all cases.…”

Section: Discussionmentioning

confidence: 99%

“…A monochorionic pregnancy was confirmed at gross examination in all cases. Dizygosity was demonstrated by the phenotypical evidence of sex discordance between twins in 2 cases [4,13] and it was proven by cytogenetic analysis showing sex discordant karyotypes between twins in 3 cases [5,7,8]. Chimerism was found to be confined to blood in 6 cases [6,8,10,14,16,17], to be present in a non-shared tissue in 3 cases [9,12,15] and it was detected in blood as well as in tissue in 1 case [11].…”

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Rare spontaneous monochorionic dizygotic twins: a case report and a systematic review

Trombetta

Fabbro²,

Demori³

et al. 2022

BMC Pregnancy Childbirth

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Background Monochorionic dizygotic twins are a rare condition, mostly related to assisted reproductive technology. This type of twinning is burdened by the same risk of pregnancy complications found in monochorionic monozygotic pregnancies. Case presentation We report a case of spontaneous monochorionic dizygotic twins sharing situs inversus abdominalis and isolated levocardia, with only one twin affected by biliary atresia with splenic malformation syndrome. We also conducted a literature review of the 14 available documented monochorionic dizygotic twin gestations spontaneously conceived. Conclusions It is still unclear how this unusual type of twinning can occur in spontaneous conception. The evidence so far suggest the importance to timely diagnose the chorionicity, in order to adequately manage the typical complications associated with monochorionicity.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Rare spontaneous monochorionic dizygotic twins: a case report and a systematic review

Trombetta

Fabbro²,

Demori³

et al. 2022

BMC Pregnancy Childbirth

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“…Главный постулат данной гипотезы -в основе данной патологии лежат хромосомные и другие генетические нарушения, вызывающие нарушение закладки многих органов, в том числе и сердца [11,12]. С одной стороны, у плодов-акардиусов хромосомные аномалии выявляются достаточно редко [12,13], с другой -частота плодов-акардиусов встречается значимо чаще среди монозиготных двоен женского пола [5].…”

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Role of twin reversed arterial perfusion syndrome in the development of fetus acardius

Nizyaeva¹,

Kostyukov²,

Гладкова³

et al. 2016

Arkh. patol.

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Monochorionic multiple pregnancy has a higher risk for obstetric complications, including those due to the development of twin-to-twin transfusion syndrome and reversed arterial perfusion syndrome (TRAP sequence). The latter occurs in 0.1% of all monochorionic pregnancies. The basis for TRAP sequence is a relationship between arterial and venous anastomoses from the appropriate placental areas, causing a recipient fetus to develop at the expense of a donor fetus. The presence of abnormal anastomoses is considered to be a main cause of acardia. The prognosis for a donor fetus is also unfavorable: the mortality rates in the absence of intrauterine correction are as high as 55%.

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Hypothesized pathogenesis of acardius acephalus, acormus, amorphus, anceps, acardiac edema, single umbilical artery, and pump twin risk prediction

Gemert

Ross

Wijngaard

et al. 2021

Birth Defects Research

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Background: Acardiac twinning complicates monochorionic twin pregnancies in ≈2.6%, in which arterioarterial (AA) and venovenous placental anastomoses cause a reverse circulation between prepump and preacardiac embryos and cessation of cardiac function in the preacardiac. Literature suggested four acardiac body morphologies in which select (groups of) organs fail to develop, deteriorate, or become abnormal: acephalus (≈64%, [almost] no head, part of body, legs), amorphus (≈22%, amorphous tissue lump), anceps (≈10%, cranial bones, well-developed), and acormus (≈4%, head only). We sought to develop hypotheses that could explain acardiac pathogenesis, its progression, and develop methods for clinical testing.Methods: We used qualitatively described pathophysiology during development, including twin-specific AA and Hyrtl's anastomoses, the short umbilical cord syndrome, high capillary permeability, properties of spontaneous aborted embryos, and Pump/Acardiac umbilical venous diameter (UVD) ratios. Results:We propose that each body morphology has a specific pathophysiologic pathway. An acephalus acardius may be larger than an anceps, verifiable from UVD ratio measurements. A single umbilical artery develops when one artery, unconnected to the AA, vanishes due to flow reduction by Hyrtl's anastomotic resistance. Acardiac edema may result from acardiac body hypoxemia combined with physiological high fetal capillary permeability, high interstitial compliance and low albumin synthesis. Morphological changes may occur after acardiac onset. Pump twin risk follows from UVD ratios. Conclusion:Our suggested outcomes agree reasonably well with reported onset, incidence, and progression of acardiac morphologies. Guidance for clinical prediction and testing requires ultrasound anatomy/circulation study, from the first trimester onward.

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An Acephalus Acardius Amorphous Fetus in a Monochorionic Pregnancy With Sex Discrepancy

Cited by 5 publications

References 30 publications

Rare spontaneous monochorionic dizygotic twins: a case report and a systematic review

Rare spontaneous monochorionic dizygotic twins: a case report and a systematic review

Role of twin reversed arterial perfusion syndrome in the development of fetus acardius

Hypothesized pathogenesis of acardius acephalus, acormus, amorphus, anceps, acardiac edema, single umbilical artery, and pump twin risk prediction

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