Absent Umbilical Cord Research Articles

Body Stalk Anomaly.

Abdominal wall defects encompass three primary classifications: gastroschisis, omphalocele and anomalies resembling body stalk. Potential causative factors include early amnion rupture, amniotic bands, vascular disruptions or abnormal folding of the embryo. The prevalence of these defects stands at 1 in 14,000 live births. Body stalk anomaly is characterized by a substantial abdominal defect coupled with spine and limb anomalies, along with a very short or absent umbilical cord. We present a case of a rare abdominal defect known as body stalk anomaly, the most severe form of this spectrum of diseases. The diagnosis of this anomaly was established during the first trimester of pregnancy. Subsequently, the patient opted for pregnancy termination and chose not to undergo genetic testing. The anatomo-pathological results confirmed the findings. Body stalk anomaly is not compatible with life; therefore, early identification and understanding the clinical implications of this rare anomaly for informed decision-making in prenatal care are very important.

Analysis of characteristic features in ultrasound diagnosis of fetal limb body wall complex during 11-13+6 weeks.

Limb body wall complex (LBWC) is a fatal malformation characterized by major defects in the fetal abdominal or thoracic wall, visceral herniation, significant scoliosis or spina bifida, limb deformities, craniofacial deformities, and umbilical cord abnormalities (short or absent umbilical cord). Early diagnosis of this condition is of great clinical significance for clinical intervention and pregnancy decision-making. With the rapid development of fetal ultrasound medicine, early pregnancy (11-13+6 wk) standardized prenatal ultrasound examinations have been widely promoted and applied. To explore the value of prenatal ultrasound in the diagnosis of fetal LBWC syndrome during early pregnancy. The ultrasonographic data and follow-up results of 18 cases of fetal LBWC diagnosed by prenatal ultrasound during early pregnancy (11-13+6 wk) were retrospectively analyzed, and their ultrasonographic characteristics were analyzed. Among the 18 fetuses with limb wall abnormalities, there were spinal dysplasia (18/18, 100%), varying degrees of thoracoschisis and gastroschisis (18/18, 100%), limb dysplasia in 6 cases (6/18, 33%), craniocerebral malformations in 4 cases (4/18, 22%), thickening of the transparent layer of the neck in 5 cases (5/18, 28%), and umbilical cord abnormalities in 18 cases (18/18, 100%), single umbilical artery in 5 cases. Prenatal ultrasound in early pregnancy can detect LBWC as early as possible, and correct prenatal evaluation provides important guidance value for pregnancy decision-making and early intervention.

Current Perspectives of Prenatal Sonography of Umbilical Cord Morphology.

The umbilical cord constitutes a continuation of the fetal cardiovascular system anatomically bridging between the placenta and the fetus. This structure, critical in human development, enables mobility of the developing fetus within the gestational sac in contrast to the placenta, which is anchored to the uterine wall. The umbilical cord is protected by unique, robust anatomical features, which include: length of the umbilical cord, Wharton’s jelly, two umbilical arteries, coiling, and suspension in amniotic fluid. These features all contribute to protect and buffer this essential structure from potential detrimental twisting, shearing, torsion, and compression forces throughout gestation, and specifically during labor and delivery. The arterial components of the umbilical cord are further protected by the presence of Hyrtl’s anastomosis between the two respective umbilical arteries. Abnormalities of the umbilical cord are uncommon yet include excessively long or short cords, hyper or hypocoiling, cysts, single umbilical artery, supernumerary vessels, rarely an absent umbilical cord, stricture, furcate and velamentous insertions (including vasa previa), umbilical vein and arterial thrombosis, umbilical artery aneurysm, hematomas, and tumors (including hemangioma angiomyxoma and teratoma). This commentary will address current perspectives of prenatal sonography of the umbilical cord, including structural anomalies and the potential impact of future imaging technologies.

First trimester diagnosis of body stalk anomaly complicated by ectopia cordis.

Body stalk anomaly is a rare abnormality characterized by an abdominal wall defect with evisceration of abdominal organs, severe kyphoscoliosis, and a very short or absent umbilical cord. Ectopia cordis (EC) is a rare, lethal anomaly characterized by complete or partial malpositioning of the heart outside of the thorax. A 28-year-old healthy primigravida was referred to our department to undergo a nuchal translucency thickness scan at 12 weeks’ gestation. The scan revealed typical features of body stalk anomaly and EC. Given the lethal condition of the fetus, the patient opted for termination of the pregnancy. Body stalk anomalies, especially those complicated by EC, are universally lethal for the affected fetus. Selective termination should be recommended to avoid possible complications that can arise during pregnancy. Additionally, the future parents should be informed that because the condition is not associated with chromosomal abnormalities, there is no increased risk of recurrence.

Complex malformations involving the fetal body wall – definition and classification issues

The objective of the study is to analyse the sonographic features, cytogenetic results and pregnancy outcomes in complex malformations involving the body wall in a large cohort of fetuses with regard to different definitions proposed in the literature. A retrospective study on 96 fetuses with complex malformations comprising ventral wall, craniofacial structures, limbs and umbilical cord that were evaluated between 1997 and 2015. The most common sonographic finding was an extensive ventral wall defect (95.8%; 92/96) comprising liver (94.6%; 87/92), intestine (82.6%; 76/92), heart (17.4%; 16/92) and bladder (8.7%; 8/92). Acrania and encephalocoele were observed in 24 and 9 fetuses (25.0%, 24/96; 9.4%, 9/96), respectively. Limb anomalies were present in 54 fetuses (56.3%; 54/96). Rudimentary or absent umbilical cord was observed in 62 fetuses (64.6%; 62/96). In 79 fetuses, there were additional multiple structural anomalies detected prenatally. None of the currently used definitions encompasses all possible phenotypes of body wall defects present in our cohort. Chromosomal aberrations were seen in 8 out of 60 cases with conclusive cytogenetic result (13.3%, 8/60). Chromosomal anomalies are common, and karyotyping should be offered. There is a need for a more rigorous classification of complex malformations in order to better understand the underlying pathophysiology. © 2017 John Wiley & Sons, Ltd.

Possible Genetic Origin of Limb-Body Wall Complex

Limb body wall complex (LBWC) is characterized by multiple severe congenital malformations including an abdominal and/or thoracic wall defect covered by amnion, a short or absent umbilical cord with the placenta almost attached to the anterior fetal wall, intestinal malrotation, scoliosis, and lower extremity anomalies. There is no consensus about the etiology of LBWC and many cases with abnormal facial cleft do not meet the requirements for the true complex. We describe a series of four patients with LBWC and other malformations in an attempt to explain their etiology. There are several reports of fetuses with LBWC and absent gallbladder and one of our patients also had polysplenia. Absent gallbladder and polysplenia are associated with laterality genes including HOX, bFGF, transforming growth factor beta/activins/BMP4, WNT 1–8, and SHH. We postulate that this severe malformation may be due to abnormal genes involved in laterality and caudal development.

Limb-body wall complex: a case report

Limb-body wall complex is an extremely rare malformation usually characterised by the presence of a major anterior abdominal wall defect, limb deformities, kyphoscoliosis, an absent or short umbilical cord, and/or...

First‐Trimester Diagnosis of Body Stalk Anomaly Using 2‐ and 3‐Dimensional Sonography

To determine the sonographic features of body stalk anomaly in the first trimester using 2-dimensional (2D) and 3-dimensional (3D) sonography, we conducted a retrospective analysis of all nuchal translucency sonographic examinations performed between January 1, 2006, and January 1, 2010, at our institution. From a total of 6952 nuchal translucency sonographic examinations, 4 cases of body stalk anomaly were identified. All cases were characterized by an absent umbilical cord and a large ventral wall defect with herniation of the abdominal contents into the extraembryonic coelom. Associated features included kyphoscoliosis, limb defects, and enlarged nuchal translucency measurements. Three-dimensional sonography was a useful adjunct to 2D techniques in determining the precise relationship of fetal structures to the amniotic cavity. Our case series emphasizes the importance of a thorough anatomic survey at the time of nuchal translucency screening and the value of 3D sonography in the delineation of first-trimester anomalies.

A fetal autopsy case of body stalk anomaly

Body stalk anomaly (BSA) is a sporadic polymalformative syndrome incompatible with extrauterine life. In utero detection of BSA by two-dimensional and three-dimensional ultrasonography and magnetic resonance imaging has been well documented. We herein describe a case of body stalk anomaly diagnosed at autopsy. The fetus had a large anterior midline abdominal wall defect with eventration of the visceral organs into the amnio-peritoneal sac and a completely absent umbilical cord. The associated anomalies included club foot, absent diaphragm, genitourinary, and gastrointestinal defects. The observed congenital anomalies supported the theory of embryonic dysgenesis as the etiologic factor. One of the major objectives in the performance of fetal autopsy is to be able to detect abnormalities that can have implications in future pregnancies. Despite the negligible familial recurrence rate of the broad spectrum of anomalies associated with this abdominal wall defect, the present case of fetal autopsy indeed delights to serve the living.

Korrelation zwischen sonographischen und klinischen Befunden in der Plazentarperiode - Lösungszeiten, Lösungszeichen und Lösungsmodus

Objective: We analyzed the duration and phases of the third stage of labor with gray-scale and color Doppler sonography. We also compared ultrasound findings with the clinical signs of placental separation and the mode of placental delivery. Methods: The third stage of labor was recorded by color Doppler sonography in 57 patients after vaginal delivery. Results: The third stage of labor can be broken down into three distinct phases. The latent phase consists of the interval between delivery of the newborn and beginning placental separation (median duration 141 sec, range 5 - 790 sec). The beginning of this phase was marked by cessation of blood flow between the myometrium and the placenta. The detachment phase is characterized by shearing off of the placenta from the myometrium (median duration 50 sec, range 15-100 sec). The expulsion phase begins with completed separation and ends with the vaginal delivery of the placenta (median 80.5 sec, range 2-385 sec). Kustner's sign (absent umbilical cord retraction on suprapubic pressure) was positive and Schroder's sign (fundal elevation) in 98% of women with sonographically separated placentae. Clinically, placental separation by the Schultze mechanism was present in 45 cases (79%). In contrast, sonography showed that placental separation began from the inferior pole of the placenta without retroplacental hematoma in all cases. Conclusion: The third stage of labor consists of three distinct phases. The duration of the third stage is determined mainly by the latent phase, in which blood flow between the myometrium and the placenta ceases. Clinical and sonographic signs of placental separation correlate closely. The lower part of the placenta usually separates first, so that the mechanism described by Schultze is only of theoretical interest.

Outcome of very low birth weight infants with histopathologic chorioamnionitis

Objective: To determine neonatal outcome at 7 months of corrected age in very low birth weight (VLBW) infants with placental chorioamnionitis. Methods: We conducted a cohort study of 287 VLBW infants delivered as a result of preterm premature rupture of membranes (PROM) or preterm labor. Control subjects ( n = 123) had placentas with absent umbilical cord inflammation and absent or low-grade membrane inflammation. Case subjects ( n = 164) had moderate membrane inflammation or any umbilical cord inflammation. Neonatal and 7-month outcomes were compared. A power analysis showed that 98 total subjects were needed to reject the two-sided null hypothesis with a difference in mean Bayley index scores of at least 8. Results: Infants in the study group had significantly more preterm PROM, antenatal antibiotics, lower birth weight, lower gestational age, longer duration of ruptured membranes, and clinical chorioamnionitis. Intraventricular hemorrhage occurred more commonly in infants with placentas demonstrating chorioamnionitis (relative risk = 1.6, 95% confidence interval 1.1, 2.4, P = .013). One hundred sixty-seven (69%) of the 243 surviving infants had 7-month follow-up. There was no difference between cases and controls in mean Bayley mental developmental index (93 compared with 90, P = .25), psychomotor developmental index (89 compared with 90, P = .68), or in the number of infants that were developmentally delayed. Conclusion: Despite a higher frequency of intraventricular hemorrhage, no difference in developmental scores was detected at 7 months of corrected age in VLBW infants with histologic chorioamnionitis.

The amniotic adhesion malformation complex associated with short or absent umbilical cord

The spectrum of amniotic adhesion malformations can include body wall defects, cranial abnormalities and amputation of limbs. Its greatly varying pattern renders diagnosis difficult. Pathogenesis has been ascribed to rupture of amnion in early gestation with subsequent entanglement of fetal parts (Torpin R, Am J Obstet Gynecol 1965;91:65–75 and in Fetal malformation caused by amnion rupture during gestation, Springfield, IL: Charles C. Thomas, 1968). Eight cases belonging to the amniotic adhesion malformation complex which occurred within a 7 months period were seen in our department. This malformation complex is not infrequently observed; however, this clustering of cases is exceptional. A common feature in all subjects was an either missing or significantly shortened umbilical cord, whereas amniotic bands could only be identified in two fetuses.