Amniotic band

Cases of severe bilateral Tessier 4 cleft with unilateral Tessier 3 cleft and additional involvement of the amniotic band syndrome are rarer. This case reports a very rare case of ABS with severe facial cleft. Postoperative progress was satisfactory and the patient achieved functional recovery. The patient underwent several miner reconstructive surgeries and appropriate surgical treatment is necessary to restore the patient's social life.

KEY CLINICAL MESSAGE: Amniotic band sequence (ABS) should be on the differential for newborns with limb defects. ABS is diagnosable prenatally with prenatal ultrasound; however, there are cases where the diagnosis of ABS is made only after delivery of the newborn. ABSTRACT: Amniotic band sequence (ABS) is an uncommon congenital disorder where strands of amniotic tissue cause entrapment of the limbs, body wall, and viscera leading to an array of congenital malformations...

Constrictive amniotic band syndrome (CABS) is a rare condition which occurs sporadically and should not be compared with a syndrome as it is known from genetics. However, since the pathogenesis is not yet fully understood, some theories suggest genetics playing a role. Even though CABS is rare it is associated with a high risk of foetal death as seen in 1/70 of these cases. The diagnostics start with ultrasound of the pregnant woman, and if this leads to suspicion of CABS it is possible to supplement with 3D ultrasound or MRI to verify...

BACKGROUND: Oral and maxillofacial surgery deals with wide range of oral defects, wound closure, tissue resection, and tissue reconstruction. The purpose of our study is to use amniotic membrane for closure of post surgery defect in patient of oral submucous fibrosis to utilize its growth factor and scaffold nature for effective healing and to evaluate effectiveness of amniotic membrane in treatment outcome. The objectives are to compare post-operative mouth opening, healing of amniotic membrane and buccal fat pad...

OBJECTIVE: To explore the clinical characteristics and molecular genetic mechanism of a fetus with recombinant chromosome 8 (Rec8) syndrome. METHODS: A fetus who was diagnosed with Rec8 syndrome at the Provincial Hospital Affiliated to Shandong First Medical University on July 20, 2021 due to high risk for sex chromosomal aneuploidy indicated by non-invasive prenatal testing (NIPT) (at 21st gestational week) was selected as the study subject. Clinical data of the fetus was collected...

OBJECTIVE: To assess the value of non-invasive prenatal testing (NIPT) for trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosome aneuploidies, chromosomal microdeletions and microduplications using cell-free fetal DNA from peripheral blood samples of pregnant women. METHODS: A total of 15 237 pregnant women who had undergone NIPT testing at the Maternity and Child Health Care Hospital of Zaozhuang from February 2015 to December 2021 were enrolled in this study...

OBJECTIVE: To assess the value of non-invasive prenatal testing (NIPT) for detecting fetal chromosomal microdeletion/microduplication syndromes by carrying out prenatal diagnoses for two fetuses with Xp22.31 microdeletion indicated by NIPT. METHODS: Two pregnant women suspected for fetal Xp22.31 microdeletion syndrome who presented at Zaozhuang Maternal and Child Health Care Hospital on December 5, 2017 and October 15, 2020 were selected as the study subjects. Clinical data of the two women were collected, and peripheral venous blood samples were collected for NIPT testing...

Objective: The clinical value of an automatic chromosome harvester was evaluated, which included a comparison between the manual and automatic harvesting for the isolation of amniotic fluid cell chromosomes. Methods: Amniotic fluid samples from 96 high-risk gravida cases identified at 17-25 weeks treated at the Prenatal Diagnostic and Reproductive Center from June to July 2022 were collected. These samples underwent both manual and automatic chromosome collection, and their harvest time and number of amniotic cells were compared...

LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Understand and describe the basic principles underlying the intrinsic versus extrinsic proposed mechanisms for the development of amniotic band syndrome (ABS). 2. Discuss risk factors and conditions that are associated with the development of ABS. 3. Understand the various presentations and associated clinical implications of ABS by anatomic location. 4. Describe the basic tenets underlying various repair technique options for ABS of the extremities...

PURPOSE: Cryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be unilateral or bilateral and can occur in isolation or as part of an underlying syndrome. We aim to identify genetic syndromes associated with cryptophthalmos to facilitate genetic diagnosis. METHODS: We performed a retrospective medical record review of all patients diagnosed with cryptophthalmos followed at a single center between 2000 and 2020...

OBJECTIVE:  The prenatal diagnosis of chromosomal mosaicism is fraught with uncertainty. Karyotyping, chromosomal microarray analysis (CMA), and fluorescence in situ hybridization (FISH) are three commonly used techniques. In this study, we evaluated these techniques for the prenatal diagnosis of chromosomal mosaicism and its clinical outcome. STUDY DESIGN:  A retrospective review of mosaicism was conducted in 18,369 pregnant women from January 2016 to November 2021...

BACKGROUND: Amniotic band syndrome (ABS) is a rare congenital disease characterized by a broad spectrum of congenital anomalies resulting from the strangulated developing organ(s) by the detached fibrous amniotic band. The prevalence of CNS involvement in ABS is rare, but the mortality rate in these cases is high, while morbidity among the surviving patients is inevitable. CASE REPORT: Three-month-old male, 9-month-old female, and newborn female babies were presented with head lump(s), severe facial cleft, syndactyly, and finger amputation...

It was to investigate the value of quantitative fluorescence PCR (QF-PCR) for the selection of specific short tandem repeat (STR) in prenatal diagnosis of fetal chromosomal diseases. Amniotic fluid (AF) and villus samples were obtained from 80 pregnant women at 16-20 weeks of gestation, and venous blood samples were obtained from 60 normal individuals to extract and prepare peripheral blood chromosome, AF cell chromosome, and villus cell chromosome samples for specific STR locus detection. It showed that the area ratio of AMX peak to AMY peak in the Genescan typing map of peripheral blood DNA of normal males was close to 1:1, while the Genescan typing map of peripheral blood DNA of normal females had only AMX peak and no AMY peak...

OBJECTIVE: To explore the genetic basis for a Chinese pedigree with 6q26q27 microduplication and 15q26.3 microdeletion. METHODS: A fetus with a 6q26q27 microduplication and a 15q26.3 microdeletion diagnosed at the First Affiliated Hospital of Wenzhou Medical University in January 2021 and members of its pedigree were selected as the study subject. Clinical data of the fetus was collected. The fetus and its parents were analyzed by G-banding karyotyping and chromosomal microarray analysis (CMA), and its maternal grandparents were also subjected to G-banding karyotype analysis...

Ichthyosis is caused by Mendelian cornification disorders. Hereditary ichthyoses are divided into non-syndromic and syndromic ichthy-oses. Amniotic band syndrome involves congenital anomalies that most frequently cause hand and leg rings. The bands can wrap around the developing body parts. In this study, it is aimed to present an emergency approach to amniotic band syndrome accompanying a case of congenital ichthyosis. We were asked by the neonatal intensive care unit to consult on the case of a 1-day-old baby boy...

BACKGROUND: The aim of the study is to assess the readability of online patient education materials (PEMs) for congenital hand differences. METHODS: The top 10 online, English-language PEMs for 10 conditions (polydactyly, syndactyly, trigger finger/thumb, clinodactyly, camptodactyly, symbrachydactyly, thumb hypoplasia, radial dysplasia, reduction defect, and amniotic band syndrome) were compiled and categorized by source and country. Readability was assessed using 5 tools: Flesch Reading Ease Score (FRES), Flesch-Kincaid Grade Level (FKGL), Gunning Fog Index (GFI), Coleman-Liau Index (CLI), and Simple Measure of Gobbledygook Index (SMOG)...

OBJECTIVE: To carry out prenatal genetic testing for a fetus with de novo 46,X,der(X)t(X;Y)(q26;q11). METHODS: A pregnant woman who had visited the Birth Health Clinic of Lianyungang Maternal and Child Health Care Hospital on May 22, 2021 was selected as the study subject. Clinical data of the woman was collected. Peripheral blood samples of the woman and her husband and umbilical cord blood of the fetus were collected and subjected to conventional G-banded chromosomal karyotyping analysis...

OBJECTIVE: To assess the value of chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) for the prenatal diagnosis of chromosomal mosaicisms. METHODS: A total of 775 pregnant women who had visited the Prenatal Diagnosis Center of Yancheng Maternal and Child Health Care Hospital from January 2018 to December 2020 were selected as study subjects. Chromosome karyotyping analysis and CMA were carried out for all women, and FISH was used to validate the suspected mosaicism cases...

INTRODUCTION: The term Streeter's syndrome is a term used to describe rare congenital malformations that includes a variety of clinical presentations usually consisting of a constriction band around a part of the body which can be as superficial as involving just the skin which can be only cosmetic and asymptomatic or can be as deep as causing restricted circulation distally which may be in incompatible with life. Such conditions are remarkably rare accounting for an incidence range from 1:1...

UNLABELLED: Amniotic band syndrome (ABS) refers to fibrous bands that appear to entangle various fetal parts in utero, leading to deformation, malformation, or disruption. To alleviate implementation of this diverse malformation, an early diagnosis on ultrasound is necessary to explain to the patient, thus, avoiding psychological shock and requiring timely intervention. CASE PRESENTATION: In the present case report, the authors describe a case of ABS that was diagnosed at the time of delivery at full term...