Browse
Submit Data
Databases
API
Help

Dataset Information

19 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Prenatal diagnosis of amniotic band syndrome.

ABSTRACT: Amniotic band can cause a broad spectrum of anomalies ranging from simple band constrictions to major craniofacial and visceral defects. It can cause significant neonatal morbidity. Accurate diagnosis will help in the management of the present pregnancy and in counseling with regard to future pregnancies. Here we report three cases of amniotic band syndrome detected in the prenatal period.

SUBMITTER: Padmanabhan LD

PROVIDER: S-EPMC4813076 | biostudies-literature | 2016 Jan-Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Prenatal diagnosis of amniotic band syndrome.

Padmanabhan Laxmi Devi LD Hamza Zareena V ZV Thampi Madhavan Venugopalan MV Nampoothiri Sheela S

The Indian journal of radiology & imaging 20160101 1

Amniotic band can cause a broad spectrum of anomalies ranging from simple band constrictions to major craniofacial and visceral defects. It can cause significant neonatal morbidity. Accurate diagnosis will help in the management of the present pregnancy and in counseling with regard to future pregnancies. Here we report three cases of amniotic band syndrome detected in the prenatal period. ...[more]

PMID: 27081225

Similar Datasets

Amniotic Band Syndrome in Adult Combined with Persistent Depressive Disorder.

Project description:Congenital amniotic band syndrome (ABS) is an anomaly with no proven etiology occurring in 0.7 per 10,000 live births. This defect mostly concerns the extremities and is often accompanied by other developmental anomalies. There are many methods of treatment for this type of defect, such as simple excision and suturing, local V-Y plasty, Z-plasty, multiple Z "plasties" or multiple W plasties, plasty with deepithelized or non-deepithelized rectangular lobes, and rigottomies complemented with lipofilling. The literature most often describes cases of treated children. There are no case reports of ABS treatment in adults. However, failure to undertake such treatment in childhood may result in serious mental dysfunction. We present the case of a 39-year-old woman with congenital ABS, in whom failure to provide proper treatment in childhood resulted in persistent depressive disorder development. The applied treatment, consisting of multiple Z plasties, liposuction, and fat grafting, resulted in improved appearance of her lower extremity, as well as the cessation of mental symptoms.

| S-EPMC8154472 | biostudies-literature

Prenatal diagnosis of Chudley-McCullough syndrome.

Project description:Chudley-McCullough syndrome (CMS) is an autosomal-recessive disorder characterized by a complex brain malformation and profound congenital sensorineural hearing loss. Postnatal brain imaging findings include ventriculomegaly, partial agenesis of corpus callosum, inferior cerebellar dysplasia, arachnoid cysts, and malformations of cortical development including frontal subcortical heterotopia and polymicrogyria. Prenatal diagnosis of CMS is important due to the markedly less severe neurodevelopmental prognosis compared to disorders with similar brain imaging findings. We report prenatal imaging features that help distinguish CMS from other disorders, including slit-like frontal horns, agenesis of the corpus callosum, frontal subcortical heterotopia, arachnoid cysts, and cerebellar dysplasia. © 2016 Wiley Periodicals, Inc.

| S-EPMC8210655 | biostudies-literature

Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches

Project description:Background: Isovaleric acidemia (IVA) is an inborn error of leucine metabolism and different approaches have been applied to its prenatal diagnosis. However, systemic application of a biochemical strategy is rare. To evaluate its reliability and validity, we conducted a retrospective study of our experience with metabolite measurement together with genetic analysis in IVA prenatal diagnosis at a single center. Methods: A total of eight pregnancies whose probands were diagnosed as IVA were referred to our center for prenatal diagnosis. Prenatal data of genetic analysis and metabolite measurement using tandem mass spectrometry (MS/MS) and gas chromatography/mass spectrometry (GC/MS) in amniotic fluid (AF) samples were retrospectively reviewed. Results: Genetic and biochemical results were both available in these eight at-risk fetuses. Among them, two fetuses had higher levels of isovalerylcarnitine (C5) and C5/acetylcarnitine (C2) in AF compared with normal reference range and, thus, were determined to be affected, both of whom were found to carry compound heterogeneous mutations according to genetic analysis. The remaining six fetuses were determined to be unaffected based on a normal AF metabolite profile, except one showed slightly elevated C5 and they were found to be carriers according to genetic analysis. However, the level of isovalerylglycine (IVG) could not be detected at all in both groups. Conclusion: The biochemical analysis, as a quick and convenient method, could be an additional reliable option for the prenatal diagnosis of IVA, especially in families with inconclusive genetic results, and can achieve a more precise diagnosis in conjunction with mutation analysis.

| S-EPMC9280075 | biostudies-literature

Prenatal diagnosis of congenital high airway obstruction syndrome.

Project description:Congenital high airway obstruction syndrome (CHAOS) is a rare sequence due to a complete obstruction of the fetal airway that blocks the larynx or trachea, either intrinsic atresia or extrinsic compression (e.g., congenital neck mass). Despite the true incidence of CHAOS is unknown, an incidence of 1 per 50,000 newborns is described. If any obstruction occurs in the tracheobronchial airway, this secretion cannot be extricated. Because of this situation, a knock-on effect starts: the enlargement of the lungs squeezes the heart and great veins, what results in a replacement of the heart to the center of the chest becoming small and dysfunctional. Decreased venous return and the failure of cardiovascular system end in ascites and hydrops. The diaphragm planes or inverts according to the severity of the process. In case of unrecognized syndrome during the prenatal period, it usually results in stillbirth or death shortly after delivery. The overall prognosis remains fatal, and long-term medical and surgical challenges for survivors remain considerable even after overcoming fetal intervention.

| S-EPMC6176680 | biostudies-literature

Goldenhar syndrome: a rare diagnosis with possible prenatal findings.

Project description:Goldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Its aetiology is not yet clarified in the literature. We present a case of multiple malformations detected in the morphology ultrasound (at 22?weeks of gestation), namely absent nasal bones, micrognathia and absent left radius, among other defects. Genetic counselling, fetal brain MRI and cardiac sonography, which showed ventricular septal defect, were performed. 11 syndromes with poor fetal or neonatal prognosis were identified as possible diagnosis, using a genetic database and the couple asked for a medical termination of pregnancy. Postmortem examination has shown features consistent with Goldenhar syndrome.

| S-EPMC4932337 | biostudies-other

A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing.

Project description:BackgroundChromosome 18p deletion syndrome is a disease caused by the complete or partial deletion of the short arm of chromosome 18, there were few cases reported about the prenatal diagnosis of 18p deletion syndrome. Noninvasive prenatal testing (NIPT) is widely used in the screening of common fetal chromosome aneuploidy. However, the segmental deletions and duplications should also be concerned. Except that some cases had increased nuchal translucency or holoprosencephaly, most of the fetal phenotype of 18p deletion syndrome may not be evident during the pregnancy, 18p deletion syndrome was always accidentally discovered during the prenatal examination.Case presentationsIn our case, we found a pure partial monosomy 18p deletion during the confirmation of the result of NIPT by copy number variation sequencing (CNV-Seq). The result of NIPT suggested that there was a partial or complete deletion of X chromosome. The amniotic fluid karyotype was normal, but result of CNV-Seq indicated a 7.56 Mb deletion on the short arm of chromosome 18 but not in the couple, which means the deletion was de novo deletion. Finally, the parents chose to terminate the pregnancy.ConclusionsTo our knowledge, this is the first case of prenatal diagnosis of 18p deletion syndrome following NIPT.NIPT combined with ultrasound may be a relatively efficient method to screen chromosome microdeletions especially for the 18p deletion syndrome.

| S-EPMC6925888 | biostudies-literature

Prenatal diagnosis of Pallister-Killian syndrome in one twin.

Project description:Pallister-Killian syndrome (PKS) is often incidentally diagnosed prenatally due to ultrasound abnormalities or advanced maternal age. Severely shortened limbs could be the most outstanding abnormal observation in a fetus with PKS. PKS can be detected with the highest mosaic ratio by chromosomal microarray analysis (CMA) on uncultured amniocytes prenatally.

| S-EPMC6099054 | biostudies-literature

Prenatal diagnosis of nail patella syndrome: A case report.

Project description:The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation. The movements of the elbow and knee joints were restricted and there was rotational deformity of the knee joints. To our knowledge, this is the first report of in-utero restriction of limb movements in a fetus with NPS.

| S-EPMC5644329 | biostudies-literature

Schaaf-Yang Syndrome: A Real Challenge for Prenatal Diagnosis.

Project description:Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder caused by pathogenic variants in the MAGEL2 gene. It is usually a postnatal diagnosis in infants with muscular hypotonia and feeding difficulties. There are no cases diagnosed antenatally. During pregnancy, the most common findings reported are polyhydramnios and decreased fetal movements, which are relatively common and unspecific.We present one case of fetal clubfoot and clinodactyly in a fetus postnatally diagnosed with SYS, as well as a brief review of the prenatal findings associated with this syndrome.

| S-EPMC8757634 | biostudies-literature

Prenatal diagnosis of Pallister-Killian syndrome and literature review.

Project description:Pallister-Killian syndrome (PKS) is a rare sporadic genetic disorder usually caused by mosaicism of an extra isochromosome of 12p (i(12p)). This retrospective study analysed the prenatal ultrasound manifestations and molecular and cytogenetic results of five PKS foetuses. Samples of amniotic fluid and/or cord blood, skin biopsy and placenta were collected. Conventional karyotyping and single nucleotide polymorphism array (SNP array) were performed on all the amniotic fluid or cord blood samples. Copy number variants sequencing (CNV-seq) and fluorescence in situ hybridization (FISH) were also used for the validation for one foetus. All the five foetuses were from pregnancies with advanced parental age. Two foetuses involved structural abnormalities and one foetus had only soft markers, all of which included increased nuchal translucency. The rest two foetuses had normal ultrasounds in the second trimester, which has rarely been reported before. The karyotype revealed typical i(12p) in four cases and a small supernumerary marker chromosome consisting of 12p and 20p in the remaining one case. The proportion of cells with i(12p) ranged from 0 to 100% in cultural cells, while SNP array results suggested 2-4 copies of 12p. For one foetus, metaphase FISH showed normal results, but the interphase FISH suggested cell lines with two, three and four copies of 12p in the amniotic fluid. Advanced parental age may be an important risk factor for PKS, and there were no typical ultrasound manifestations related to PKS. A combination of karyotype analysis and molecular diagnosis is an effective method for the diagnosis of PKS.

| S-EPMC8435413 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data