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 intrauterine /in·tra·uter·ine/ (-u´ter-in) within the uterus.
Within the uterus.
Situated or occuring in the uterus. 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.
REPORT OF A CASE
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.
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 mac·er·a·tion
1. Softening by soaking in a liquid.
2. Softening of the tissues after death by autolysis, especially of a stillborn fetus. . The phenotypically female fetus was without fadal dysmorphology. Internal examination demonstrated normal organogenesis and moderate visceral autolysis autolysis /au·tol·y·sis/ (aw-tol´i-sis)
1. spontaneous disintegration of cells or tissues by autologous enzymes, as occurs after death and in some pathologic conditions.
2. . 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 thrombus /throm·bus/ (throm´bus) pl. throm´bi a stationary blood clot along the wall of a blood vessel, frequently causing vascular obstruction. . 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 Loss of signal power in a transmission.
The reduction in level of a transmitted quantity as a function of a parameter, usually distance. It is applied mainly to acoustic or electromagnetic waves and is expressed as the ratio of power densities. and torsion was present at the umbilical cord insertion site, immediately adjacent to the fetal abdomen (Figure 1). The proximal cord was moderately edematous e·dem·a·tous
Marked by edema. . The placenta was grossly unremarkable.
[Figure 1 ILLUSTRATION OMITTED]
The third instance of cord torsion resulted in the delivery of a nonviable nonviable /non·vi·a·ble/ (-vi´ah-b'l) not capable of living.
Not capable of living or developing independently. Used especially of an embryo or fetus. , 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 integument
Covering of the body, which protects it from the outside world and from drying out. In humans and other mammals it consists of the skin (including outer epidermis and inner dermis) and its related structures, including hair, nails, and sebaceous and sweat glands. 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.
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 villous /vil·lous/ (vil´us) villose.
vil·lous or vil·lose
Of, relating to, resembling, or covered with villi.
pertaining to or emanating from villi. size and maturation, as well as patchy villous edema edema (ĭdē`mə), abnormal accumulation of fluid in the body tissues or in the body cavities causing swelling or distention of the affected parts. . Additionally, intravascular intravascular /in·tra·vas·cu·lar/ (in?trah-vas´ku-lar) within a vessel.
Within one or more blood vessels. 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.
[Figure 2 ILLUSTRATION OMITTED]
Cytogenetic cytogenetic /cy·to·ge·net·ic/ (-je-net´ik)
1. pertaining to chromosomes.
2. pertaining to cytogenetics.
pertaining to or originating from the origin and development of the cell. Findings
An aliquot aliquot (al-ee-kwoh) adj. a definite fractional share, usually applied when dividing and distributing a dead person's estate or trust assets. (See: share) of fetal cells was obtained from fetal villous tissue in each case, and the samples were examined by cytogenetic techniques. To summarize, metaphase metaphase /meta·phase/ (met´ah-faz) the second stage of cell division (mitosis or meiosis), in which the chromosomes, each consisting of two chromatids, are arranged in the equatorial plane of the spindle prior to separation. 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 postmortem /post·mor·tem/ (post-mort´im) performed or occurring after death.
Relating to or occurring during the period after death.
See autopsy. artifacts artifacts
see specimen artifacts. . 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 Intrauterine Growth Retardation Definition
Intrauterine growth retardation (IUGR) occurs when the unborn baby is at or below the 10th weight percentile for his or her age (in weeks). , placental insufficiency, and oligohydramnios may all occur secondary to cord torsion.[4,5] The antemortem antemortem /an·te·mor·tem/ (an?te-mor´tem) [L.] occurring before death.
performed or occurring before death. findings associated with this gestational complication may now be better characterized, as it is becoming possible to identify cord torsion prenatally using ultrasonography ultrasonography /ul·tra·so·nog·ra·phy/ (-so-nog´rah-fe) the imaging of deep structures of the body by recording the echoes of pulses of ultrasonic waves directed into the tissues and reflected by tissue planes where there is a change in .
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 amniocentesis (ăm'nēō'sĕntē`sĭs), diagnostic procedure in which a sample of the amniotic fluid surrounding a fetus is removed from the uterus by means of a fine needle inserted through the abdomen of the pregnant woman (see 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 Stromal
A type of tissue that is associated with the support of an organ.
Mentioned in: Wilms' Tumor fibrosis. Wharton's jelly is comprised largely of mucopolysaccharides mucopolysaccharides
n. , specifically hyaluronic acid and chondroitin sulfate. 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. This finding might be predicted when considering the acute setting in which the vascular compromise may occur and the avascular avascular /avas·cu·lar/ (a-vas´ku-ler) not vascular; bloodless.
Not associated with or supplied by blood vessels. microenvironment microenvironment /mi·cro·en·vi·ron·ment/ (-en-vi´ron-ment) the environment at the microscopic or cellular level. produced at the constriction site by cord torsion. Many early reports emphasized the presence of intravascular thrombi thrombi /throm·bi/ (throm´bi) plural of thrombus. as a defining characteristic for genuine umbilical cord torsion; 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 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 extraembryonic /ex·tra·em·bry·on·ic/ (eks?trah-em?bre-on´ik) external to the embryo proper, as the extraembryonic coelom or extraembryonic membranes.
adj. 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. 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.
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Marked by discrepancy; disagreeing.
[Middle English discrepaunt, from Latin discrep chorionic villous results: nonmosaic 47,XX+16 in villi villi: see digestive system. (direct and culture) with normal (46,XX) amniotic fluid and neonatal blood. Prenat Diagn. 1989;9:467-472.
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The development and growth of an embryo.
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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 The Memorial Sloan-Kettering Cancer Center (MSKCC) in New York City is a cancer treatment and research institution founded in 1884 as the New York Cancer Hospital. The main campus is located at 1275 York Avenue, between 67th and 68th Streets, with other locations in New , Department of Pathology, New York, NY.
Reprints: Theonia Boyd, MD, Department of Pathology, Baystate Medical Center, 759 Chestnut St, Springfield, MA 01199.