scholarly journals 6-(2,3-Dichlorodiphenyl)-1,2,4-Triazine-3,5-Diamine Use in Pregnancy and Body Stalk Anomaly- A Possible Association?

2019 ◽  
Vol 70 (7) ◽  
pp. 2656-2659
Author(s):  
Anca Huniadi ◽  
Andrea Sorian ◽  
Adrian Maghiar ◽  
Diana Mocuta ◽  
Liana Antal ◽  
...  
Keyword(s):  
Abdominal Wall ◽  
Umbilical Cord ◽  
Abdominal Wall Defect ◽  
Medical Abortion ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Caucasian Woman ◽  
Ultrasound Images ◽  
Large Defect ◽  
Acquired Epilepsy

Body Stalk Anomaly is a rare malformation syndrome characterized by anterior abdominal wall defect, kyphoscoliosis, limb reduction, rudimentary umbilical cord, craniofacial defects and anomalies of the chest wall. The association between antiepileptic drugs, such as Lamotrigine [6-(2,3-dichlorophenyl)- 1,2,4-triazine-3,5-diamine], and the development of such malformation have been studied for many years. Many studies can be found regarding the teratogenic potential of Lamotrigine, but they have contradictory results. We present the case of a 34-year old pregnant, caucasian woman, known with acquired epilepsy due to neurocysticercosis for which she is under treatment with Lamotrigine 400mg/day. The patient was examined at 12 weeks of gestational age, when the ultrasound images showed a large defect in the fetal abdominal wall: eviscerated liver and bowel outside the coelomic cavity, kyphoscoliosis, a short umbilical cord, nuchal translucency 2.8mm, mandibular retrognathism. Based upon the aforementioned ultrasound findings we considered the diagnosis to be Body Stalk Anomaly and recommended a medical abortion. Embryological remainings were sent to pathology and genetic department revealing Turner Syndrome. We consider important to detect typical features of the anomaly in the first trimester and distinguish it from other abdominal defects like omphalocele and gastroschisis, since the conditions imply different management. Another important issue is to be aware about the treatment with Lamotrigine.

scholarly journals First trimester diagnosis of body stalk anomaly complicated by ectopia cordis

2020 ◽  
Vol 48 (12) ◽  
pp. 030006052098021
Author(s):  
Yi Yang ◽  
Hong Wang ◽  
Zhenpeng Wang ◽  
Xuefeng Pan ◽  
Ying Chen
Keyword(s):  
Abdominal Wall ◽  
Umbilical Cord ◽  
Chromosomal Abnormalities ◽  
Abdominal Wall Defect ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ectopia Cordis ◽  
Wall Defect ◽  
Abdominal Organs ◽  
Increased Risk

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.

Three-Dimensional Sonographic Evaluation of the Position of the Fetal Conus Medullaris at First Trimester

2021 ◽  
pp. 1-8
Author(s):  
Ruben Ramirez Zegarra ◽  
Nicola Volpe ◽  
Evelina Bertelli ◽  
Greta Michela Amorelli ◽  
Luigi Ferraro ◽  
...  
Keyword(s):  
Abdominal Wall ◽  
Umbilical Cord ◽  
Interobserver Agreement ◽  
Interobserver Variability ◽  
First Trimester ◽  
3D Ultrasound ◽  
Conus Medullaris ◽  
Consecutive Series ◽  
Fetal Life ◽  
Umbilical Cord Insertion

<b><i>Objective:</i></b> The objective of this study was to assess the position of the conus medullaris (CM) at the first trimester 3D ultrasound in a cohort of structurally normal fetuses. <b><i>Methods:</i></b> This was a multicenter prospective study involving a consecutive series of structurally normal fetuses between 11 and 13 weeks of gestation (CRL between 45 and 84 mm). All fetuses were submitted to 3D transvaginal ultrasound using a sagittal view of the spine as the starting plane of acquisition. At offline analysis, the position of the CM was evaluated by 2 independent operators with a quantitative and a qualitative method: (1) the distance between the most caudal part of the CM and the distal end of the coccyx (CMCd) was measured; (2) a line perpendicular to the fetal spine joining the tip of the CM to the anterior abdominal wall was traced to determine the level of this line in relation to the umbilical cord insertion (conus to abdomen line, CAL). Interobserver agreement for the CCMd was evaluated. Linear regression analysis was used to determine the association between the CMCd and CRL, and a normal range was computed based on the best-fit model. The absence of congenital anomalies was confirmed in all cases after birth. <b><i>Results:</i></b> In the study period between December 2019 and March 2020, 143 fetuses were recruited. In 130 fetuses (90.9%), the visualization of the CM was feasible. The mean value of the CMCd was 1.09 ± 0.16 cm. The 95% limits of agreement for the interobserver variability in measurement of the CMCd were 0.24 and 0.26 cm. The interobserver variability based on the intra-class correlation coefficient (ICC) for the CCMd was good (ICC = 0.81). We found a positive linear relationship between the CCMd and CRL. In all these fetuses, the CAL encountered the abdominal wall at or above the level of the cord insertion. <b><i>Conclusion:</i></b> In normal fetuses, the assessment of the CM position is feasible at the first trimester 3D ultrasound with a good interobserver agreement. The CM level was never found below the fetal umbilical cord insertion, while the CMCd was noted to increase according to the gestational age, confirming the “ascension” of the CM during fetal life.

scholarly journals Abdominal wall defect found at the first-trimester ultrasound scan

2020 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
Marilia Freixo ◽  
Elisa Soares ◽  
Maria Coelho ◽  
Carla Marinho ◽  
AnaRita Pinto ◽  
...  
Keyword(s):  
Abdominal Wall ◽  
Abdominal Wall Defect ◽  
First Trimester ◽  
Ultrasound Scan ◽  
Wall Defect ◽  
First Trimester Ultrasound

scholarly journals Body Stalk Anomaly in a 9-Week Pregnancy

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Fabio E. Quijano ◽  
María Mónica Rey ◽  
Mariana Echeverry ◽  
Roland Axt-Fliedner
Keyword(s):  
Abdominal Wall ◽  
Umbilical Cord ◽  
Abdominal Wall Defect ◽  
Termination Of Pregnancy ◽  
Pathologic Examination ◽  
Trigger Factors ◽  
Wall Defect ◽  
Malformation Syndrome ◽  
The Right

Body stalk anomaly is a rare and severe malformation syndrome in which the exact pathophysiology and trigger factors are still unknown. This is a case of a 30-year-old patient who underwent ultrasound at 9 weeks of gestation. It revealed an abnormal location of the inferior body of the embryo in the coelomic space. The findings suggested a short umbilical cord syndrome. In order to confirm the diagnosis, the patient was scheduled for a second ultrasonography at 11 weeks of gestation. The obtained images, confirmed the location of the inferior body in the coelomic space with no visible bladder, absence of the right leg, severe abdominal wall defect, consistent with an omphalocele, and a short 5 mm umbilical cord. These last ultrasonographic findings were consistent with body stalk anomaly. Because of severe malformation incompatible with life, the patient was offered termination of pregnancy. Pathologic examination confirmed the suspected pathology of body stalk anomaly.

scholarly journals Abdominal wall defect found at the first-trimester ultrasound scan

2020 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
Marília Freixo ◽  
Elisa Soares ◽  
Maria Coelho ◽  
Carla Marinho ◽  
AnaRita Pinto ◽  
...  
Keyword(s):  
Abdominal Wall ◽  
Abdominal Wall Defect ◽  
First Trimester ◽  
Ultrasound Scan ◽  
Wall Defect ◽  
First Trimester Ultrasound

scholarly journals Genetic and imaging study of a case with multiple malformations: limb body wall complex

2021 ◽  
Vol 7 (6) ◽  
pp. 148-150
Author(s):  
Luis Gustavo Celis ◽  
Isabel Cristina Almonacid ◽  
Esperanza Velasquez ◽  
Isabel Fernandez ◽  
Jose Dorado ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Genetic Counseling ◽  
Umbilical Cord ◽  
Body Wall ◽  
Imaging Study ◽  
Lower Extremities ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Chromosomal Study

The Limb-Wall Complex is a rare and sporadic congenital anomaly characterized by multiple craniofacial and thoracoabdominal malformations as well as involvement of the spine and lower extremities. The etiology is unknown and the chromosomal study is normal, however, it is related to an alteration in the formation of the umbilical cord (short umbilical cord), abdominal placental insertion and persistence of the extraembryonic coelom. This condition causes intracavitary organs to be exposed and adhered to the placenta and consequently also attached to the mother’s uterus. The diagnosis can be made from the first trimester of gestation with a nuchal translucency ultrasound in order to detect this pathology in time and to be able to offer good genetic counseling to the parents, since the prognosis is not favorable

scholarly journals THE IMAGE OF EMBRYO AND FETAL OF ETAWA CROSSBRED GOATS USING ULTRASONOGRAPHY AT DIFFERENT GESTATIONAL AGES

2018 ◽  
Vol 12 (2) ◽  
Author(s):  
Juli Melia ◽  
Fauziah Fauziah ◽  
Hamdan Hamdan ◽  
Budianto Panjaitan ◽  
Syafruddin Syafruddin ◽  
...  
Keyword(s):  
Umbilical Cord ◽  
Body Length ◽  
Early Pregnancy ◽  
Gestational Age ◽  
First Trimester ◽  
Maximum Diameter ◽  
Ultrasound Images ◽  
Embryo Size ◽  
Gestational Sac

This study aimed to estimate the gestational age of Etawa crossbred goats based on ultrasound images of embryo and fetal usingtranscutaneous ultrasonography. Etawa crossbred does (n= 5) were synchronized using double PGF2α injection with 10 days interval and matednaturally. Early pregnancy was diagnosed on 20th day after mating base on isoechogenic image of the embryo (2.65±0.75 mm) andhypoechogenic appearance of gestational sac. On 30th day of the first trimester, the embryo size was 8.31±0.42 mm. The embryo reached10.44±0.51 mm on 35th day. On 60th day, the existence of the fetal were clearly appeared along with isoechogenic of umbilical cord,hyperechogenic os cranium (25.5±0.1 mm), and body length (51.83±1.59 mm). On 75th day, the diameter of the os cranium was 33.03±0.20 mm,body length of 110±1.73 mm, and bones structures appeared hyperechogenic for os thoracalis and os vertebrae. The placenta was isoechogenoicwith diameter of 23.3±0.2 mm. On 90th day, the placenta dominated the uterus (22.67±1.70 mm) and reached its maximum diameter on 145th day(33.73±2.91 mm). In conclusion, early pregnancy detection of Etawa crossbred goats using transcutaneous ultrasonography could be performedon 20th day after mating

scholarly journals Umbilical Cord Hernia Associated with a Patent Urachus: A Case Report

2020 ◽  
Vol 2 (1) ◽  
pp. 13-18
Author(s):  
María SC ◽  
Pedro-José LE ◽  
Marina PS ◽  
Carolina AM
Keyword(s):  
Abdominal Wall ◽  
Umbilical Cord ◽  
Muscle Development ◽  
Abdominal Wall Defect ◽  
Urachal Cyst ◽  
Abdominal Wall Defects ◽  
Associated Anomalies ◽  
Wall Defect ◽  
Patent Urachus ◽  
Umbilical Cord Hernia

An umbilical cord hernia (UCH) is a form of abdominal wall defect, affecting 6 out of every 10,000 newborns. The persistence of urachus is an embryonic remnant that connects the bladder to the abdominal wall at the level of the umbilicus, being yet more uncommon. We reviewed the literature, searching in PubMed, under the terms “Hernia of umbilical cord”, “Congenital hernia of cord” and “Persistent Urachus”. Only a few similar cases of both pathologies associated described were found. Our main objective is to highlight the distinct clinical features, embryogenesis, prognosis and associated anomalies of two infrequent embryopathies. And to describe a infrequent case of both abnormalities presenting simultaneously. UCH are often misdiagnosed with other abdominal wall deffects, such as omphalocele, umbilical hernias, gastroschisis and umbilical cord cysts. The normal cord insertion, adequate muscle development of the abdominal wall and a wall defect less than 5cm is what differentiates it from an omphalocele. UCH has a low morbidity overall, as it is not associated with other anomalies. The most frequently observed urachal malformations are the persistence of a urachus and urachal cyst. The prenatal diagnosis of patent urachus is made by ultrasound or magnetic resonance, being easily mistaken with abdominal wall defects, confirming the diagnosis with an ultrasound at birth. The persistence of urachus may resolve spontaneously, if not, surgical resolution is recommended. Similar to a UCH, a patent urachus shows little association with other malformations. It is important to know the clinical presentation and the diagnostic perinatal methods employed for appropriate management and favorable results for both pathologies. This relies on knowing when to suspect possible associated anomalies and when complementary studies might be needed. It is also important to be aware that there is the possibility of a UCH and a patent urachus existing simultaneously.

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