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

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

Download Full-text

First trimester diagnosis of body stalk anomaly complicated by ectopia cordis

Journal of International Medical Research ◽

10.1177/0300060520980210 ◽

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.

Download Full-text

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

Revista de Chimie ◽

10.37358/rc.19.7.7399 ◽

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.

Download Full-text

First trimester ultrasound screening for trisomy 21 based on maternal age, fetal nuchal translucency and different combinations of the additional markers nasal bone, tricuspid and ductus venosus flow

Ultraschall in der Medizin - European Journal of Ultrasound ◽

10.1055/s-0035-1558776 ◽

2015 ◽

Vol 36 (S 01) ◽

Author(s):

KO Kagan ◽

M Hoopmann ◽

P Wagner ◽

H Abele

Keyword(s):

Trisomy 21 ◽

Maternal Age ◽

Nasal Bone ◽

First Trimester ◽

Nuchal Translucency ◽

Ductus Venosus ◽

Ultrasound Screening ◽

First Trimester Ultrasound

Download Full-text

First-trimester presentation of ultrasound findings in trisomy 13 and validation of multiparameter ultrasound-based risk calculation models to detect trisomy 13 in the late first trimester

Journal of Perinatal Medicine ◽

10.1515/jpm-2020-0383 ◽

2020 ◽

Vol 0 (0) ◽

Author(s):

Bartosz Rajs ◽

Agnieszka Nocuń ◽

Anna Matyszkiewicz ◽

Marcin Pasternok ◽

Michał Kołodziejski ◽

...

Keyword(s):

Heart Defects ◽

False Positive Rate ◽

Nasal Bone ◽

First Trimester ◽

Nuchal Translucency ◽

Trisomy 13 ◽

Ductus Venosus ◽

Patau Syndrome ◽

A Prospective Study ◽

Cns Anomalies

AbstractObjectivesTo identify the most common ultrasound patterns of markers and anomalies associated with Patau syndrome (PS), to explore the efficacy of multiparameter sonographic protocols in detecting trisomy 13 (T13) and to analyze the influence of maternal age (MA) on screening performance. Methods: The project was a prospective study based on singleton pregnancies referred for a first-trimester screening examination. The scan protocol included nuchal translucency (NT), fetal heart rate (FHR), secondary ultrasound markers [nasal bone (NB), tricuspid regurgitation (TR), ductus venosus reversed a-wave (revDV)] and major anomaly findings. Results: The study population comprised 6133 pregnancies: 6077 cases of euploidy and 56 cases of T13. Statistically significant differences were found in MA, FHR, NT, absence of NB, presence of revDV, TR and single umbilical artery. Fourteen cases of T13 (25%) demonstrated no markers of aneuploidy. The best general detection rate (DR) (DR of 78.6% with an false positive rate (FPR) of 1.2%) was obtained for a cutoff of 1/300 utilizing the “NT+T13” algorithm. The logistic regression model revealed that the central nervous system (CNS) anomalies had the greatest odds ratio (of 205.4) for T13. Conclusions: The effectiveness of the multiparameter sonographic protocol used for T13 screening showed promising results in patients older than 36 years and suboptimal results in patients between 26 and 36 years old. When screening for T13 left heart defects, CNS anomalies, abdominal anomalies, FHR above the 95th percentile, increased NT, revDV and lack of NB should receive specific attention.

Download Full-text