scholarly journals Role of Ultrasound in Body Stalk Anomaly and Amniotic Band Syndrome

2016 ◽  
Vol 2016 ◽  
pp. 1-10 ◽  
Author(s):  
Madhavilatha Routhu ◽  
Sreedevi Thakkallapelli ◽  
Prashanthi Mohan ◽  
Nadeem Ahmed
Keyword(s):  
First Trimester ◽  
Unknown Etiology ◽  
Abdominal Wall Defects ◽  
Body Parts ◽  
Patient Counselling ◽  
Amniotic Band ◽  
Developmental Abnormalities ◽  
Amniotic Band Syndrome ◽  
Limb Deformities ◽  
Craniofacial Defects

Body stalk anomaly (BSA) and amniotic band syndrome (ABS) are rare similar fetal sporadic polymalformative syndromes of unknown etiology, though there are certain differences between them. BSA is a combination of developmental abnormalities involving neural tube, body wall, and the limbs with persistent extra embryonic coelomic cavity. ABS is characterized by the presence of thin membrane-like strands attached to fetal body parts and causing constrictions and amputations. This is a cohort study involving 32,100 patients who were referred for routine antenatal ultrasound scan. The data was entered prospectively into a computer database. The duration of study was 3 years. In our study, ultrasound examination in 86 patients demonstrated ventral wall defects, craniofacial defects, and spinal and limb deformities as isolated or combined abnormalities. In those, 10 patients were suspected/diagnosed as BSA/ABS including a twin of a dichorionic diamniotic gestation. The typical features of body stalk anomaly can be detected by ultrasound by the end of the first trimester, which is important for the patient counselling and management. We are presenting these rare conditions and highlighting the importance of early sonographic imaging in diagnosing and differentiating them from other anterior abdominal wall defects.

scholarly journals Amniotic band syndrome: etiology, clinical features, diagnosis

2005 ◽  
Vol 54 (2) ◽  
pp. 79-82
Author(s):  
V. G. Vakharlovsky ◽  
А. A. Koryukov ◽  
N. V. Belyak ◽  
А. А. Shikhmagomedov
Keyword(s):  
Birth Defects ◽  
Ultrasound Examination ◽  
Fetal Surgery ◽  
Clinical Heterogeneity ◽  
Congenital Diseases ◽  
Amniotic Band ◽  
Meckel Syndrome ◽  
Amniotic Band Syndrome ◽  
Edwards Syndrome ◽  
Limb Deformities

The article presents the problem of birth defects caused by amniotic bands (AB) amniotic band syndrome (ABS). This syndrome is of multifactorial origin, the incidence of diagnosis is 7,7:10 000 newborns. ABS is characterized by clinical heterogeneity: limb deformities (occur most frequently), head and brain abnormalities, rare cases of body disorders, omphalocele, etc. Fetal surgery through laser release of AB is described. In some cases ABS should be differentiated from Meckel syndrome, Edwards syndrome and other congenital diseases as well as neural tube defects. In case of ABS diagnosis in fetus as a result of ultrasound examination of a pregnant woman consultation of physicians (obstetriciangynaecologist, medical geneticist, specialist in ultrasound prenatal diagnostics, neonatologist surgeon) including pediatric orthopedist is needed to determine proper tactics of pregnancy management. Recurrence risks for future offspring of a woman whose child (or fetus in history) has had ABS as well as for the persons with ABS do not exceed 2 %.

Craniofacial defects associated with amniotic band syndrome: A case report

1986 ◽  
Vol 24 (1) ◽  
pp. 43-45 ◽  
Author(s):  
Masaharu Ito ◽  
Yoshio Onitsuka ◽  
Kazuo Matsui ◽  
Syunichi Fujisaki ◽  
Masao Maeyama
Keyword(s):  
Case Report ◽  
Amniotic Band ◽  
Amniotic Band Syndrome ◽  
Craniofacial Defects

Abnormal first-trimester fetal nuchal translucency and amniotic band syndrome

2012 ◽  
Vol 39 (3) ◽  
pp. 177-180 ◽  
Author(s):  
Takayuki Higuchi ◽  
Mamoru Tanaka ◽  
Keiko Kuroda ◽  
Akira Yabuno ◽  
Seon Hye Kim ◽  
...  
Keyword(s):  
First Trimester ◽  
Nuchal Translucency ◽  
Amniotic Band ◽  
Amniotic Band Syndrome

Prenatal ultrasonographic diagnosis of limb body wall complex

1970 ◽  
Vol 2 (2) ◽  
pp. 72-74
Author(s):  
Narayan B Thapa ◽  
Ganesh Dangal ◽  
Aruna Karki
Keyword(s):  
Key Words ◽  
Abdominal Wall ◽  
Umbilical Cord ◽  
Body Wall ◽  
Abdominal Wall Defects ◽  
Amniotic Band ◽  
Wall Defect ◽  
Ultrasonographic Diagnosis ◽  
Amniotic Band Syndrome ◽  
Rare Combination

In this report, a case of limb body wall complex (LBWC) diagnosed by ultrasonography is presented. Limbbody wall complex refers to a rare combination of disruptive and lethal abnormalities which start early in the gestational process. Abnormalities commonly associated with this disorder include cranio-facial abnormalities, scoliosis, ventral body wall defect (thoraco-abdominoschisis), limb deformations, short umbilical cord, and others. Other terms used to describe similar findings include short umbilical cord syndrome, body-stalk anomaly, and amniotic band syndrome. This complex should be distinguished from other body-wall defects including omphalocele and gastroschisis since the prognosis for limb-body wall complex is uniformly poor. The diagnosis of limb-body wall complex can be made by prenatal sonography. Key words: limb body wall complex, abdominal wall defects, amniotic bands, amniotic band syndrome, ultrasonography.     doi:10.3126/njog.v2i2.1460 N. J. Obstet. Gynaecol 2007 Nov-Dec; 2 (2): 72 - 74

scholarly journals Amniotic band syndrome: a case series

2020 ◽  
Vol 7 (5) ◽  
pp. 1145
Author(s):  
Vinaya A. Singh ◽  
Navina V. Desai ◽  
Sushma Malik ◽  
Poonam Wade ◽  
Prachi Gandhi
Keyword(s):  
Congenital Anomalies ◽  
Surgical Intervention ◽  
Antenatal Diagnosis ◽  
Case Series ◽  
Abdominal Wall Defects ◽  
Amniotic Band ◽  
Live Births ◽  
Amniotic Band Syndrome ◽  
Rare Congenital Disorder ◽  
Case Based

Amniotic band syndrome (ABS) is a rare congenital disorder which involves fetal entrapment in strands of amniotic tissue, which can manifest as constriction rings, limb and digital amputations or complex congenital anomalies and sometimes results in stillbirth. Etiopathogenesis is varied and ABS can be associated with syndromes. Antenatal diagnosis is made by ultrasonography in most cases. Postnatal examination reveals constrictions, amputations and craniofacial or abdominal wall defects. Treatment is case based and surgical intervention is required to release constriction rings. Authors report here six cases (one stillbirth and five live births) of amniotic band syndrome that were encountered over the last one and half years.

scholarly journals Cell-free DNA Testing in Routine Practice: Characterisation of a Cohort with Positive Results for Trisomies, Sex Chromosome Anomalies and Microdeletions

2020 ◽  
Author(s):  
Ismail Tekesin
Keyword(s):  
Sex Chromosome ◽  
Screening Method ◽  
First Trimester ◽  
Routine Practice ◽  
Cell Free Dna ◽  
Patient Counselling ◽  
Chromosome Anomalies ◽  
Free Dna ◽  
Autosomal Aneuploidy ◽  
Current Guidelines

Abstract Introduction Cell-free DNA (cfDNA) testing is increasingly used as a screening method not only for trisomy (T) 21 but also for T18 and T13, sex chromosome anomalies (SCA) and microdeletions. Based on cases with a positive cfDNA result in our specialised prenatal practice, this study aims to characterise the usage of cfDNA testing and to estimate the positive predictive value (PPV) in routine practice in Germany. Patients and Methods In this retrospective study we analysed the data of all pregnant women with a positive cfDNA result seen between 09/2013 and 12/2019. Women were either referred due to the positive result or the test was initiated in our practice. The primary parameter of interest was the concordance of cfDNA tests with confirmatory genetic testing. Results We encountered 81 cases with a positive cfDNA test (T21: 49.4%; T18: 9.9%; T13: 8.6%; SCA: 22.2%; 22q12del: 8.6%). The PPV was 95.0% for T21, but considerably lower for T18 (55.6%) and T13 (28.6%). For SCAs it was 23.1% and no case with DiGeorge syndrome was confirmed. 63% of the patients had not received a fetal anomaly scan before cfDNA testing. In first-trimester fetuses with a cfDNA test predicting an autosomal aneuploidy, fetal anomalies were detected in 90.3% of the cases. No false positive case had an abnormal US result. Conclusions Despite the excellent specificity of cfDNA tests, the PPV for aneuploidies other than T21 is low in routine practice. In discordance with the current guidelines, cfDNA test is often used without a previous detailed anomaly scan. Our data provide valuable information to assist patient counselling and shared decision making.

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