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Recurrent Umbilical Cord Torsion Leading to Fetal Death in 3 Subsequent Pregnancies.

A Case Report and Review of the Literature

Umbilical cord torsion has been established as an uncommon cause of intrauterine fetal demise. Although initially described more than 300 years ago, relatively few cases have been described in the literature, and of these, extremely few have been reported in the last 50 years.[1,2] Investigators have traditionally considered umbilical cord torsion to be an exclusively sporadic event; however, limited examples of familial clustering have been described recently.[2,3] To our knowledge, this is the first reported case in which one woman has experienced umbilical cord torsion as a complicating factor in 3 pregnancies.


During a 7-year period, a 30-year-old, white, gravida 9, para 3 woman experienced 3 successful births resulting in healthy infants (1990, 1992 twins), 3 spontaneous abortions for unknown causes (1989, 1989, 1995), and 3 cases of intrauterine fetal demise secondary to umbilical cord torsion (1993, 1996, 1996). In each pregnancy complicated by cord torsion, the patient had received prenatal care, including ultrasound imaging studies, which initially confirmed the presence of healthy viable fetuses. The mother presented with symptoms of decreased fetal movements in the initial instance, whereas the second and third cases were discovered during routine prenatal examinations. Following fetal demise in each instance, delivery was medically induced, and a nonviable fetus was delivered without further complication. A fetopsy examination was performed in each case.


Gross Findings

The initial occurrence of umbilical cord torsion resulted in the death of a 19-week female fetus. The fetus weighed 164 g and had a crown-rump length of 15.5 cm, a crownheel length of 21.9 cm, and a foot length of 2.3 cm. The external surface showed generalized moderate maceration. The phenotypically female fetus was without fadal dysmorphology. Internal examination demonstrated normal organogenesis and moderate visceral autolysis. The umbilical cord measured 36.5 cm and disclosed extensive spiraling. A well-defined point of constriction and torsion was noted in association with focally deficient Wharton's jelly, located 1 cm from the fetal abdominal wall. The placental disk disclosed a 1.3-cm subchorionic thrombus. No further gross abnormalities were present.

The second pregnancy to be complicated by umbilical cord torsion resulted in the death of a 16-week, phenotypically male fetus. The fetus weighed 96 g and had a crown-rump length of 13.4 cm, a crown-heel length of 19.4 cm, and a foot length of 2.0 cm. The cutaneous surface was moderately macerated in a generalized distribution. The fetus was without fadal dysmorphology. Internal examination disclosed normal organogenesis and severe visceral autolysis. The umbilical cord measured 33.0 cm in length and showed extensive spiraling. A well-defined site of marked attenuation and torsion was present at the umbilical cord insertion site, immediately adjacent to the fetal abdomen (Figure 1). The proximal cord was moderately edematous. The placenta was grossly unremarkable.


The third instance of cord torsion resulted in the delivery of a nonviable, 15.5-week, phenotypically female fetus. The fetus weighed 58 g and had a crown-rump length of 8.7 cm, a crown-heel length of 11.9 cm, and a foot length of 1.2 cm. The integument showed moderately severe maceration in a generalized distribution. No facial dysmorphology was present. Internal examination revealed moderate visceral autolysis and normal organogenesis with appropriate reproductive system development for gestational age. The umbilical cord measured 27.0 cm in length and was extensively spiraled. The umbilical cord was focally deficient of Wharton's jelly and showed stricture and mild torsion adjacent to the abdominal insertion site. Proximal to the primary constriction site, the umbilical cord was moderately edematous and disclosed additional less pronounced foci of attenuation. The placenta was grossly unremarkable.

Microscopic Findings

In all cases, histologic examination revealed normal visceral development without microscopic evidence of chronic fetal stress. The region of cord constriction and torsion in each case was deficient in Wharton's jelly, most notably in the peripheral aspects of the umbilical cord. The paucity of Wharton's jelly at the torsion sites was further illustrated by pale staining with Alcian blue, pH 2.5 (Figure 2), and toluidine blue. All torsion sites were without significant inflammation. Microscopic analysis of each placenta disclosed slight variability in villous size and maturation, as well as patchy villous edema. Additionally, intravascular karyorrhexis, villous sclerosis, and villous edema were present in the placenta from the second case of cord torsion. These placental findings are consistent with the history of intrauterine fetal demise.


Cytogenetic Findings

An aliquot of fetal cells was obtained from fetal villous tissue in each case, and the samples were examined by cytogenetic techniques. To summarize, metaphase spreads were made from a 24-hour, unstimulated cell culture and were G-banded by the standard trypsin-Giemsa banding method. Analysis performed on a sample of metaphase chromosomes disclosed normal karyotypes (46,XX and 46,XY, respectively) in the initial and second case of fetal demise. In the third case, 3 of 15 scored cells disclosed a 46,XX,del(X)(q24) karyotype, while the remaining cells showed a normal 46,XX karyotype.


Umbilical cord torsion is now an accepted cause of intrauterine fetal demise. Until recently, the identification of umbilical cord constriction and torsion has been restricted to postmortem examinations, leaving room for much debate as to whether such findings represented actual causes of death or postmortem artifacts.[1] It is now suspected that cord torsion may occasionally be associated with adverse fetal and placental changes prior to fetal demise. Investigators have suggested that cardiac arrhythmias, heart failure, nonimmune hydrops, intrauterine growth retardation, placental insufficiency, and oligohydramnios may all occur secondary to cord torsion.[4,5] The antemortem findings associated with this gestational complication may now be better characterized, as it is becoming possible to identify cord torsion prenatally using ultrasonography.[6]

The mechanism and predisposing factors for umbilical cord torsion have not been completely elucidated. Previous authors have noted an increased propensity for occurrence in association with excessively long and spiraled umbilical cords, twin gestations, and following amniocentesis procedures.[1,2,7-10] Additionally, focal deficiencies in Wharton's jelly may leave the cord without its structural integrity and predispose it to torsion and resultant vascular compromise.[1,2,11,12] In the third pregnancy of this series, the primary constriction site lacked the profound spiraling observed in the previous 2 gestations. The affected region of the cord showed marked attenuation with fibrosis in association with mild spiraling. These findings suggest that cord stricture, in lieu of a significant torsion component, may have played a more significant role in the eventual demise of this fetus. Although cord constriction seems to be related and possibly predisposes to cord torsion in some cases, instances in which umbilical cord stricture has resulted in fetal death independent of umbilical cord torsion have been reported.[8,13]

From a histologic perspective, the umbilical cord torsion site is typically deficient in Wharton's jelly and shows stromal fibrosis. Wharton's jelly is comprised largely of mucopolysaccharides, specifically hyaluronic acid and chondroitin sulfate.[12] For this reason, its absence may be easily demonstrated using Alcian blue (pH 2.5) or toluidine blue, both of which will highlight mucosubstances present within the cord. In some instances the Wharton's jelly is entirely replaced by fibrous tissue, although this change did not occur in our cases.[1,2,9] Although usually not commented on, some reported cases have described a lack of inflammation at the torsion site, as noted in our case.[2] This finding might be predicted when considering the acute setting in which the vascular compromise may occur and the avascular microenvironment produced at the constriction site by cord torsion. Many early reports emphasized the presence of intravascular thrombi as a defining characteristic for genuine umbilical cord torsion[1]; however, as in our cases, subsequent reports have not found intravascular thrombi to be a consistent finding.[2,9]

In a recent review of the literature regarding mosaicism found by fetal villous sampling, Phillips et al[14] found only 10% of such cases harbored mosaicism within the fetal tissue proper. In our case, the presence of a 46,XX, del(X)(q24)/46,XX mosaic karyotype most likely represents contamination from a lost twin or a nondisjunctional event limited to extraembryonic tissue.[15,16] In the low likelihood that this genetic abnormality was present in fetal cells, the mosaicism could be explained by maternal cell contamination, or more likely by its occurrence as a postzygotic event in embryological development. Although a Turner syndrome phenotype cannot be entirely ruled out, a recent study has suggested that this is unlikely in deletions occurring distal to Xq24.[17] Because our cases demonstrated a distinct lack of facial and corporal dysmorphology and normal organogenesis, and cytogenetic studies showed a low number of cells expressing the 46,XX, del(X)(q24) mutation, we believe this genetic abnormality did not contribute to the cause of death in this fetus.

In summary, umbilical cord torsion is an uncommon cause of intrauterine fetal death. Although once thought to be an exclusively sporadic event, recent reports have shown familial clustering. In the present report, we describe 3 pregnancies complicated by umbilical cord stricture and torsion occurring in one family over a 3.5-year period. Such intrafamilial clustering suggests that a genetic predisposition for umbilical cord torsion may exist in some cases.

The authors convey our sincere appreciation to Claudia Cosgrove for her technical expertise in documenting the gross findings in this report.


[1.] Weber J. Constriction of the umbilical cord as a cause of fetal death. Acta Obstet Gynecol Scand. 1963;42:259-268.

[2.] Sun Y, Arbuckle S, Hocking G. Umbilical cord stricture and intrauterine fetal death. Pediatr Pathol Lab Med. 1995;15:723-732.

[3.] Hersh JH, Buchino JJ. Umbilical cord torsion/constriction sequence. In: Saul RA, ed. Proceedings of the Greenwood Genetics Conference. Vol 7. Clinton, SC: Jacobs Press; 1988:181-182.

[4.] Collins JH. Prenatal observation of umbilical cord torsion with subsequent premature labor and delivery of a 31-week infant with nonimmune hydrops. Am J Obstet Gynecol. 1995; 172:1048-1049.

[5.] Ben-Arie A, Weissman A, Steinberg Y, Levy R, Hagay Z. Oligohydramnios, intrauterine growth retardation and fetal death due to umbilical cord torsion. Arch Gynecol Obstet. 1995;256:159-161.

[6.] Collins JH, Muller RJ, Collins CL. Prenatal observation of umbilical cord abnormalities: a triple knot and torsion of the umbilical cord. Am J Obstet Gynecol. 1993;169:102-104.

[7.] Herman A, Zabow P, Segal M, Ron-El R, Bukovsky Y, Caspi E. Extremely large number of twists of the umbilical cord causing torsion and intrauterine fetal death. Int J Gynecol Obstet. 1991;35:165-167.

[8.] Glanfield PA, Watson R. Intrauterine fetal death due to umbilical cord torsion. Arch Pathol Lab Med. 1986;110:357-358.

[9.] Hallak M, Pryde PG, Qureshi F, Johnson MP, Jacques SM, Evans MI. Constriction of the umbilical cord leading to fetal death: a report of three cases. J Reprod Med. 1994;39:561-565.

[10.] Robertson RD, Rubistein LM, Wolfson WL, Lebherz TB, Blanchard JB, Crandall BF. Constriction of the umbilical cord as a cause of fetal demise following midtrimester amniocentesis. J Reprod Med. 1981;26:325-327.

[11.] King EL. Intrauterine death of the fetus due to abnormalities of the umbilical cord: a report of three cases. Am J Obstet Gynecol. 1926;12:812-816.

[12.] Virgilio LA, Spangler DB. Fetal death secondary to constriction and torsion of the umbilical cord. Arch Pathol Lab Med. 1978;102:32-33.

[13.] Quinlan DK. Coarctation of the umbilical cord: a cause of fetal death. S Afr J Obstet Gynaecol. 1965;3(1):1-2.

[14.] Phillips UP, Tharapel AT, Lerner JL, Park VM, Wachtel SS, Shulman LP. Risk of mosaicism when placental mosaicism is diagnosed by chorionic villous sampling. Am J Obstet Gynecol. 1996;174:850-855.

[15.] Tharapel AT, Elias S, Shulman LP, Seely L, Emerson DS, Simpson JL. Resorbed co-twin as an explanation for discrepant chorionic villous results: nonmosaic 47,XX+16 in villi (direct and culture) with normal (46,XX) amniotic fluid and neonatal blood. Prenat Diagn. 1989;9:467-472.

[16.] Crane JP, Cheung SW. An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villous versus fetal tissue. Prenat Diagn. 1988;8:119-129.

[17.] Maraschio P, Tupler R, Barbierato L, et al. An analysis of Xq deletions. Hum Genet. 1996;97:375-381.

Accepted for publication January 5, 2000.

From the Arkadi M. Rywlyn, MD, Department of Pathology, Mount Sinai Medical Center, Miami Beach, Fla (Drs Bakotic and Poppiti), and the Department of Pathology, Baystate Medical Center, Springfield, Mass (Drs Boyd and Pflueger). Dr Bakotic is now with the Memorial Sloan-Kettering Cancer Center, Department of Pathology, New York, NY.

Reprints: Theonia Boyd, MD, Department of Pathology, Baystate Medical Center, 759 Chestnut St, Springfield, MA 01199.
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Author:Bakotic, Bradley W.; Boyd, Theonia; Poppiti, Robert; Pflueger, Solveig
Publication:Archives of Pathology & Laboratory Medicine
Date:Sep 1, 2000
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