Gross patterns of umbilical cord coiling: Correlations with placental histology and stillbirth

Ernst, Linda M.; Minturn, Lucy; Huang, Michael H.; Curry, Elizabeth; Su, Emily J.

doi:10.1016/j.placenta.2013.04.002

Cited by 77 publications

(53 citation statements)

References 20 publications

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“…This finding was most likely due to impaired fetal blood perfusion and stasis-induced thrombotic coagulopathy, as seen previously in other severe congenital malformations [17], such as diaphragmatic hernia observed in this case. Alternatively or additionally, the fetal thrombotic vasculopathy (FTV) could be related to the stasis due to umbilical cord hypercoiling [18]. This highlights the importance of considering coagulopathy in the management of fetuses and neonates with SGBS.…”

Section: Discussionmentioning

confidence: 99%

Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules

Zimmermann

Stanek

2017

Am J Case Rep

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Patient: Male, newbornFinal Diagnosis: Simpson-Golabi-Behmel syndromeSymptoms: DyspneaMedication: —Clinical Procedure: —Specialty: Pediatrics and NeonatologyObjective:Congenital defects/diseasesBackground:Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive syndrome characterized by fetal overgrowth.Case report:We present a case of a male infant with SGBS. Abnormal prenatal ultrasound (including congenital diaphragmatic hernia) prompted microarray testing of amniotic fluid cells, which showed deletion on chromosome Xq26.2 affecting the glypican-3 gene consistent with SGBS type I. The infant died six hours after birth and at autopsy showed features of SGBS, including macrosomia, organomegaly, diaphragmatic hernia with consequent pulmonary hypoplasia, cleft palate, large tongue with a midline groove, a supernumerary nipple, Meckel’s diverticulum, and abnormal phalanges. Additionally, we observed features that have previously not been described in SGBS, including testes with hyperplastic seminiferous tubules and Mullerian remnants, and placenta with incipient fetal thrombotic vasculopathy.Conclusions:While most patients with SGBS type I survive into childhood or even adulthood, the severe course in our patient was ascribed to pulmonary hypoplasia secondary to the bilateral diaphragmatic hernia.

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Section: Discussionmentioning

confidence: 99%

Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules

Zimmermann

Stanek

2017

Am J Case Rep

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“…The presence of UCA in placentas with FTV is significantly variable among studies, with estimates anywhere from 8 to 79 % [17,[20][21][22]. Redline was the first to formally study this association when he evaluated the placentas of 125 infants with neonatal encephalopathy (NE) [17].…”

Section: Discussionmentioning

confidence: 99%

Fetal Thrombotic Vasculopathy

Marsden

Comstock

2015

Journal of Fetal Medicine

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Fetal thrombotic vasculopathy (FTV) is the term used to encompass the histologic findings identified in placentas with fetal thrombotic lesions: occlusive and nonocclusive chorionic vessel thrombi, avascular villi in the distribution of a single villous tree, intramural vascular fibrin, and hemorrhagic endovasculitis. The underlying etiology of FTV is largely unknown though hypercoagulability and circulatory stasis have been the main focuses in the literature to explain the hemostatic abnormalities. This article reviews the literature in both defining and discussing, potential etiologies of FTV, as well as neonatal outcomes.

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“…Ernst et al (2013) describe four patterns of hypercoiling seen in 318 cases of hypercoiled cords. Fifty-six percent of their stillbirth cases with hypercoiled cords had either the "linked" or "segmented" patterns of hypercoiling.…”

Section: Discussionmentioning

confidence: 99%

Three new families with recurrent male miscarriages and hypercoiled umbilical cord

Hoffman¹,

Kleeman

Kennelly

et al. 2015

Clinical Dysmorphology

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Gross patterns of umbilical cord coiling: Correlations with placental histology and stillbirth

Cited by 77 publications

References 20 publications

Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules

Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules

Fetal Thrombotic Vasculopathy

Three new families with recurrent male miscarriages and hypercoiled umbilical cord

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