A case of recurrent familial male miscarriages with hypercoiled umbilical cord

Beggan, Caitlin; Mooney, Eoghan E.; Downey, Paul; Carroll, Stephen

doi:10.1097/mcd.0000000000000015

Cited by 11 publications

(7 citation statements)

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“…While a few reports of recurrence with hypercoiled UC and/or UC stricture have appeared in the literature, a larger twin study failed to show a genetic component . Nevertheless, a rare Mendelian defect cannot be excluded in some families . Segmental FVM is associated with a small risk of inherited coagulopathies .…”

Section: Recurrence Risksmentioning

confidence: 98%

Fetal vascular malperfusion, an update

Redline

Ravishankar

2018

APMIS

153

104

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Fetal vascular malperfusion is the most recent term applied to a group of placental lesions indicating reduced or absent perfusion of the villous parenchyma by the fetus. The most common etiology of malperfusion is umbilical cord obstruction leading to stasis, ischemia, and in some cases thrombosis. Other contributing factors may include maternal diabetes, fetal cardiac insufficiency or hyperviscosity, and inherited or acquired thrombophilias. Severe or high grade fetal vascular malperfusion is an important risk factor for adverse pregnancy outcomes including fetal growth restriction, fetal CNS injury, and stillbirth. Overall recurrence risk for subsequent pregnancies is low.

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Section: Recurrence Risksmentioning

confidence: 98%

Fetal vascular malperfusion, an update

Redline

Ravishankar

2018

APMIS

153

104

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“…a 16-week-sized gestation (delivered at 19 weeks) with a cord length of 45 cm, then the predicted cord length at term would also be in excess of 100 cm, which is also exceptionally long. 22…”

Section: Discussionmentioning

confidence: 99%

“…19,20 On the other hand, several small case series (one of which was reported by one of the authors, TKB) have been published which describe recurrent familial second trimester IUFD due to hypercoiled umbilical cords-suggestive that some patients are genetically predisposed to long and hypercoiled umbilical cords, which subsequently carry an increased risk of umbilical cord torsion and IUFD in subsequent gestations. [21][22][23] Interestingly, if one applies the aforementioned general rules-of-thumb to the second pregnancy in the series reported by Beggan et al a 16-week-sized gestation (delivered at 19 weeks) with a cord length of 45 cm, then the predicted cord length at term would also be in excess of 100 cm, which is also exceptionally long. 22 One possible etiology of recurrent FVM that warrants consideration are hereditary/parental hypercoagulability syndromes, as these conditions carry an increased risk of adverse pregnancy outcomes and could conceivably, if passed onto the fetuses, increase the risk of FVM.…”

Section: Discussionmentioning

confidence: 99%

Fetal Vascular Malperfusion Due To Long and Hypercoiled Umbilical Cords Resulting in Recurrent Second Trimester Pregnancy Loss: A Case Series and Literature Review

Slack

Boyd

2020

Pediatr Dev Pathol

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Background Intrauterine fetal demise due to fetal vascular malperfusion in mid-gestation is a rare occurrence. Abnormally long and hypercoiled umbilical cords are associated with an increased risk of umbilical cord blood flow restriction, which in turn can result in adverse perinatal and maternal outcomes. The factors that regulate umbilical cord development, specifically umbilical cord length and coiling, are poorly understood. Methods Maternal history, along with fetal and placental findings (post-mortem, pathological, and molecular), were reviewed for a series of 3 consecutive pregnancies that ended in second trimester intrauterine fetal demise. Results All 3 umbilical cords were exceptionally long and hypercoiled, and all placentas showed evidence of high-grade fetal vascular malperfusion. At fetopsy, all 3 fetuses were developmentally normal for gestational age and lacked congenital anomalies. Maternal medical history and antenatal testing (including an extensive work-up for maternal hypercoagulability syndromes) were normal and/or noncontributory. Conclusion Although excessively long and hypercoiled cords are generally thought of as sporadic, nongenetic events, rare examples of recurrent intrauterine fetal demise secondary to such exist have been reported. This intrafamilial clustering of a rare event is suggestive that at least a subset of hypercoiled, long umbilical cords may have an underlying genetic etiology.

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“…As noted by Beggan et al (2014), no publication had previously documented association of sex predilection with hypercoiled cord. We now report three additional families who have given birth to multiple healthy girls and had multiple male fetal losses, all with associated cord hypercoiling, as well as expanding the findings in the original reported family to include a third male loss.…”

Section: Discussionmentioning

confidence: 99%

“…The mother of the index cases originally reported by Beggan et al, 2014 re-presented subsequent to the initial report. Following natural conception, pregnancy proceeded normally through the first trimester.…”

Section: Additional Information Regarding Previously Reported Casementioning

confidence: 99%