-
American Journal of Obstetrics and... May 1986Fetal echocardiography is a well-established technique for the prenatal identification of congenital heart disease. One of the indications for its use is the presence of... (Review)
Review
Fetal echocardiography is a well-established technique for the prenatal identification of congenital heart disease. One of the indications for its use is the presence of extracardiac anomalies, as such coexistent defects may have important implications for obstetric and neonatal management. We have reviewed the obstetric and pediatric literature to examine reported associations. If a fetus is suspected to have hydrocephalus, microcephaly, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued. Furthermore, echocardiography may be of help in differential diagnosis of some anomalies (for instance, skeletal dysplasias). Maternal diabetes and phenylketonuria, as well as exposure to phenytoin, trimethadione, or isotretinoin, may result in multiple systemic defects, including congenital heart disease.
Topics: Abdominal Muscles; Abnormalities, Drug-Induced; Abnormalities, Multiple; Central Nervous System; Chromosome Aberrations; Chromosome Disorders; Congenital Abnormalities; Digestive System Abnormalities; Echocardiography; Female; Fetal Heart; Heart Defects, Congenital; Humans; Infant, Newborn; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnancy in Diabetics; Prenatal Diagnosis; Respiratory System Abnormalities; Urogenital Abnormalities
PubMed: 2939723
DOI: 10.1016/0002-9378(86)90773-8 -
BJOG : An International Journal of... Jan 2021Fetal structural anomalies have an impact on fetal mortality and morbidity. Next-generation sequencing (NGS) may be incorporated into clinical pathways for investigation... (Review)
Review
Fetal structural anomalies have an impact on fetal mortality and morbidity. Next-generation sequencing (NGS) may be incorporated into clinical pathways for investigation of paediatric morbidity but can also be used to delineate the prognosis of fetal anomalies. This paper reviews the role of NGS in the investigation of fetal malformations, the literature defining the clinical utility, the technique most commonly used and potential promise and challenges for implementation into clinical practice. Prospective case selection with informative pre-test counselling by multidisciplinary teams is imperative. Regulated laboratory sequencing, bioinformatic pathways with potential variant identification and conservative matching with the phenotype is important. TWEETABLE ABSTRACT: Prenatal exome sequencing in fetal structural anomalies yields diagnostic information in up to 20% of cases.
Topics: Congenital Abnormalities; Female; Fetal Diseases; High-Throughput Nucleotide Sequencing; Humans; Pregnancy; Ultrasonography, Prenatal
PubMed: 32975887
DOI: 10.1111/1471-0528.16533 -
Neurology India 2019
Topics: Adolescent; Breast; Breast Diseases; Congenital Abnormalities; Humans; Male; Poland Syndrome
PubMed: 31512674
DOI: 10.4103/0028-3886.266297 -
European Review For Medical and... Feb 2019To investigate the effect of intestinal flora on the neural development of severe hyperbilirubinemia neonates.
OBJECTIVE
To investigate the effect of intestinal flora on the neural development of severe hyperbilirubinemia neonates.
PATIENTS AND METHODS
The clinical data of 108 severe hyperbilirubinemia neonates admitted to the Dezhou People's Hospital from January 2015 through January 2018 were analyzed, and all newborns had a serum total bilirubin level > 342 μmol/L. Based on whether they suffered from neural development abnormalities, the neonatal patients were divided into the neural abnormality group (n=52) and the non-neural abnormality group (n=56). The unconjugated bilirubin levels in serum and cerebrospinal fluid (CSF) and the composition of intestinal flora were compared.
RESULTS
Among 108 neonates, there were 55 cases with developmental abnormalities, in which 52 (48.13%) cases had neural developmental abnormalities, mainly epileptic patients. The serum and CSF unconjugated bilirubin levels of the neonatal patients in the neural abnormality group were (466.25±97.64) μmol/L and (9.64±2.98) μmol/L, respectively, which were higher than those in neonatal patients of the non-neural abnormality group [(357.89±72.53) μmol/L and (6.73±3.11) μmol/L], with statistically significant differences (p<0.05). The abundance of intestinal flora genus in the neonates in the neural abnormality group was lower than that in the non-neural abnormality group, and the comparisons of Fusobacterium, Catabacter, Succinivibrio, Clostridium and Bacteroides between the two groups showed statistically significant differences (p<0.05).
DISCUSSION
The intestinal micro-ecological environment of newborns was vulnerable and easily affected by many factors such as methods of delivery, feeding ways and eating habits of their mothers. This study investigated the effects of intestinal flora on the neural development of neonates with severe hyperbilirubinemia. The results showed that, due to decreased intestinal flora diversity, the serum and cerebrospinal fluid bilirubin levels were elevated, and the abnormal rate of neural development was increased.
CONCLUSIONS
Severe hyperbilirubinemia neonates with neural abnormalities have decreased diversity of intestinal flora genus and relatively high serum and CSF bilirubin levels, probably because the decrease in the diversity of intestinal flora genus leads to the change of the blood-CSF barrier permeability, leading to raised levels of bilirubin in serum and CSF, thus affecting the neural development of neonatal patients.
Topics: Bilirubin; Congenital Abnormalities; Feces; Female; Gastrointestinal Microbiome; Humans; Hyperbilirubinemia, Neonatal; Infant, Newborn; Male; Nervous System; Retrospective Studies
PubMed: 30779098
DOI: 10.26355/eurrev_201902_17024 -
Circulation Research Mar 2017
Topics: Adult; Biomedical Research; Congenital Abnormalities; Heart Defects, Congenital; Humans; Infant, Newborn
PubMed: 28302735
DOI: 10.1161/CIRCRESAHA.117.310830 -
Journal of Radiology Case Reports May 2019Coexistence of Klippel-Feil syndrome with Sprengel deformity and omovertebral bone is a rare complex bone abnormality with unknown incidence and etiology. Herein, we...
Coexistence of Klippel-Feil syndrome with Sprengel deformity and omovertebral bone is a rare complex bone abnormality with unknown incidence and etiology. Herein, we report a case of a 6-year-old girl with coexistence of these congenital abnormalities evaluated by three-dimensional computed tomography. We also make a brief review and discuss in details the role of this imaging modality in the evaluation of such complex cases.
Topics: Child; Congenital Abnormalities; Female; Humans; Imaging, Three-Dimensional; Klippel-Feil Syndrome; Multidetector Computed Tomography; Rare Diseases; Scapula; Shoulder Joint
PubMed: 31558956
DOI: 10.3941/jrcr.v13i5.3565 -
Korean Journal of Radiology Oct 2019Identification of certain abnormalities of the chest wall can be extremely helpful in correctly diagnosing a number of syndromic conditions and systemic diseases....
Identification of certain abnormalities of the chest wall can be extremely helpful in correctly diagnosing a number of syndromic conditions and systemic diseases. Additionally, chest wall abnormalities may sometimes constitute diagnoses by themselves. In the present pictorial essay, we review a number of such conditions and provide illustrative cases that were retrospectively identified from our clinical imaging database. These include pentalogy of Cantrell, Klippel-Feil syndrome, cleidocranial dysplasia, Poland syndrome, osteopetrosis, neurofibromatosis type 1, Marfan syndrome, Gardner syndrome, systemic sclerosis, relapsing polychondritis, polymyositis/dermatomyositis, ankylosing spondylitis, hyperparathyroidism, rickets, sickle cell anemia, thalassemia, tuberculosis, septic arthritis of the sternoclavicular joint, elastofibroma dorsi, and sternal dehiscence.
Topics: Adult; Congenital Abnormalities; Humans; Klippel-Feil Syndrome; Polychondritis, Relapsing; Retrospective Studies; Spondylitis, Ankylosing; Thoracic Wall
PubMed: 31544369
DOI: 10.3348/kjr.2019.0181 -
Ultrasound in Obstetrics & Gynecology :... Aug 2018To quantify from the published literature survival and neurodevelopmental outcome of fetuses with prenatally detected isolated severe bilateral ventriculomegaly. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To quantify from the published literature survival and neurodevelopmental outcome of fetuses with prenatally detected isolated severe bilateral ventriculomegaly.
METHODS
MEDLINE, EMBASE and the Cochrane Library were searched electronically. Only cases with a prenatal diagnosis of apparently isolated severe ventriculomegaly and postnatal neurodevelopmental assessment were selected and included. Severe ventriculomegaly was defined as enlargement of the ventricular atria, with a diameter of greater than 15 mm in the transventricular plane. All cases in which the investigators were unable to detect associated structural abnormality, chromosomal abnormality or fetal infection, and in which the ventriculomegaly was therefore regarded as apparently isolated, were included. Those for which the etiology was identified prenatally were excluded, whereas those with postnatal identification of the underlying cause were not excluded, since this information was not available prenatally. The quality of the included studies was assessed using the Newcastle-Ottawa Scale (NOS) for cohort studies. Pregnancy outcomes such as termination, stillbirth, neonatal survival and developmental outcome of the baby, were recorded. The degree of disability was classified as no, mild or severe disability. Statistical assessment was performed by meta-analysis of proportions to combine data, weighting the studies using the inverse variance method and a random-effects model. Proportions and CIs were reported.
RESULTS
Eleven studies including 137 fetuses were found. Twenty-seven pregnancies underwent termination and were excluded. The remaining 110 fetuses with apparently isolated severe ventriculomegaly for which continuation of pregnancy was intended, form the study population. Overall quality assessed using NOS for cohort studies was good. Survival was reported in 95/110 (pooled proportion 87.9% (95% CI, 75.6-96.2%)) cases. In 15/110 (pooled proportion 12.1% (95% CI, 3.8-24.4%)), either stillbirth or neonatal demise was reported. No disability was reported in 41/95 survivors (pooled proportion 42.2% (95% CI, 27.5-57.6%)). However, 17/95 showed mild/moderate disability (pooled proportion 18.6% (95% CI, 7.2-33.8%)) and 37/95 were reported to have severe disability (pooled proportion 39.6% (95% CI, 30.0-50.0%)).
CONCLUSIONS
Four-fifths of fetuses with severe ventriculomegaly survive and, of these, just over two-fifths show normal neurodevelopment. The overall survivors without disability account for more than one third of the total. Given that many cases undergo termination of pregnancy and require longer follow-up in order to detect subtle abnormalities, mortality and prevalence of developmental delay may be even higher than that reported in this paper. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Cerebral Ventricles; Congenital Abnormalities; Female; Fetal Diseases; Humans; Hydrocephalus; Infant, Newborn; Neurodevelopmental Disorders; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Severity of Illness Index; Survival Analysis
PubMed: 29484752
DOI: 10.1002/uog.19038 -
Journal of Medical Genetics Dec 1975A case of familial brachydactyly is reported.
A case of familial brachydactyly is reported.
Topics: Congenital Abnormalities; Female; Humans; Male; Middle Aged; Pedigree; Thumb
PubMed: 1219123
DOI: 10.1136/jmg.12.4.414 -
Seizure May 2015It has been long known that the risk of major congenital malformations is increased among children of mothers with epilepsy. This is mainly due to the teratogenic... (Review)
Review
It has been long known that the risk of major congenital malformations is increased among children of mothers with epilepsy. This is mainly due to the teratogenic effects of antiepileptic drugs although other factors, such as genetically determined individual susceptibility, are likely to contribute. Recent large scale prospective epilepsy and pregnancy registries have indicated that the rate of major congenital malformations may be at most two-fold higher than expected with exposure in utero to the presently most frequently used antiepileptic drugs such as carbamazepine or lamotrigine. Higher rates are consistently reported with exposure to valproate. The risk of teratogenic effects appears to be dose dependent and the lowest effective dose should thus be established before pregnancy regardless of which antiepileptic drug the woman is taking. Major changes such as switches between drugs should be avoided when pregnancy is established.
Topics: Anticonvulsants; Congenital Abnormalities; Dose-Response Relationship, Drug; Epilepsy; Female; Humans; Male; Pregnancy; Prenatal Exposure Delayed Effects
PubMed: 25777785
DOI: 10.1016/j.seizure.2015.02.019