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Prenatal Diagnosis Jan 2011To examine the performance of the 11-13 weeks scan in detecting non-chromosomal abnormalities. (Review)
Review
OBJECTIVE
To examine the performance of the 11-13 weeks scan in detecting non-chromosomal abnormalities.
METHODS
Prospective first-trimester screening study for aneuploidies, including basic examination of the fetal anatomy, in 45 191 pregnancies. Findings were compared to those at 20-23 weeks and postnatal examination.
RESULTS
Aneuploidies (n = 332) were excluded from the analysis. Fetal abnormalities were observed in 488 (1.1%) of the remaining 44 859 cases; 213 (43.6%) of these were detected at 11-13 weeks. The early scan detected all cases of acrania, alobar holoprosencephaly, exomphalos, gastroschisis, megacystis and body stalk anomaly, 77% of absent hand or foot, 50% of diaphragmatic hernia, 50% of lethal skeletal dysplasias, 60% of polydactyly, 34% of major cardiac defects, 5% of facial clefts and 14% of open spina bifida, but none of agenesis of the corpus callosum, cerebellar or vermian hypoplasia, echogenic lung lesions, bowel obstruction, most renal defects or talipes. Nuchal translucency (NT) was above the 95th percentile in 34% of fetuses with major cardiac defects.
CONCLUSION
At 11-13 weeks some abnormalities are always detectable, some can never be and others are potentially detectable depending on their association with increased NT, the phenotypic expression of the abnormality with gestation and the objectives set for such a scan.
Topics: Aneuploidy; Congenital Abnormalities; Female; Gastroschisis; Gestational Age; Heart Defects, Congenital; Humans; Kidney; Limb Deformities, Congenital; MEDLINE; Musculoskeletal Abnormalities; Nervous System Malformations; Nuchal Translucency Measurement; Pregnancy; Ultrasonography, Prenatal
PubMed: 21210483
DOI: 10.1002/pd.2642 -
Korean Journal of Radiology 2003Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype...
Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies. Isolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in counseling parents about the postnatal effects of numerous possible associated anomalies. We have encountered 50 cases involving focal musculoskeletal anomalies, including focal limb dysplasia [radial ray abnormality (n=3), mesomelic dysplasia (n=1)]; anomalies of the hand [polydactyly (n=8), syndactyly (n=3), ectrodactyly (n=1), clinodactyly (n=6), clenched hand (n=5)]; anomalies of the foot [clubfoot (n=10), rockerbottom foot (n=5), sandal gap deformity (n=1), curly toe (n=2)]; amniotic band syndrome (n=3); and anomalies of the focal spine [block vertebra (n=1), hemivertebra (n=1)]. Among these 50 cases, five [polydactyly (n=1), syndactyly (n=2) and curly toe (n=2)] were confirmed by postnatal physical evaluation, two (focal spine anomalies) were diagnosed after postnatal radiologic examination, and the remaining 43 were proven at autopsy. For each condition, we describe the prenatal sonographic findings, and include a brief review.
Topics: Amniotic Band Syndrome; Fetal Diseases; Humans; Infant, Newborn; Limb Deformities, Congenital; Musculoskeletal Abnormalities; Radiography; Spinal Diseases; Ultrasonography, Prenatal
PubMed: 14726642
DOI: 10.3348/kjr.2003.4.4.243 -
Chest Surgery Clinics of North America May 2000An association between anterior chest wall deformities and scoliosis is described in the literature but is poorly defined. It appears that only approximately 4% to 5% of... (Review)
Review
An association between anterior chest wall deformities and scoliosis is described in the literature but is poorly defined. It appears that only approximately 4% to 5% of patients with severe anterior chest wall deformities have scoliosis of sufficient magnitude to warrant evaluation and observation by a spinal deformity physician. The relationship between anterior chest wall deformity and scoliosis is most clear in patients with Marfan syndrome. Marfan patients with scoliosis are at high risk for progression of deformity to unacceptable levels and have historically not responded well to brace therapy. The causes of anterior chest wall deformity and scoliosis remain unclear, although unbalanced cartilage growth has been proposed as a potential cause of both. Some have proposed that chest wall deformity may result in asymmetric spinal forces and subsequent scoliosis secondary to altered spinal growth. Because of the association between pectus deformities and scoliosis, patients with anterior chest wall deformities should be carefully examined for signs of scoliosis and have screening radiographs if indicated. Young patients in particular should be referred to a spinal deformity physician, because it is clear that patients who present with spinal deformity prior to age 5 years are the ones at risk for adverse cardiopulmonary sequelae related to spinal deformity. Most children with scoliosis and anterior chest wall deformities need only observation of the scoliosis. In more severe cases, the management of spinal deformity traditionally involves the use of bracing to attempt to control curves of lesser magnitude and surgical management for unacceptable deformities or curves of magnitudes too great for brace treatment. There are no studies that specifically address the use of these methods in patients with both anterior chest wall deformities and scoliosis. The management of scoliosis in patients with anterior chest wall deformities follows treatment principles outlined for idiopathic scoliosis patients.
Topics: Animals; Braces; Child; Decision Making; Humans; Musculoskeletal Abnormalities; Orthopedic Procedures; Scoliosis; Thoracic Surgical Procedures; Thorax
PubMed: 10803344
DOI: No ID Found -
Cell Structure and Function Apr 2000In recent years the study of fibroblast growth factor receptors (FGFRs) in normal development and human genetic disorders has increased our understanding of some complex... (Review)
Review
In recent years the study of fibroblast growth factor receptors (FGFRs) in normal development and human genetic disorders has increased our understanding of some complex cellular processes. At least fifteen genetic disorders result from mutations within FGFR genes including skeletal dysplasias such as Apert syndrome and achondroplasia. In vitro experiments and the generation of animal models indicate that these mutations result in activation of the receptors and that FGFRs act as negative regulators of bone growth. FGFRs also play a role in wound healing and cancer. In this article, we review the expression of FGFRs in human development, the phenotypes resulting from FGFR mutations, and recent data identifying pathways downstream of the activated receptors.
Topics: Animals; Bone Development; Craniofacial Abnormalities; Craniosynostoses; Disease Models, Animal; Extracellular Matrix; Humans; Limb Deformities, Congenital; Mice; Musculoskeletal Abnormalities; Mutation; Neoplasms; Phenotype; Receptors, Fibroblast Growth Factor; Signal Transduction; Skin Diseases; Wound Healing
PubMed: 10885578
DOI: 10.1247/csf.25.85 -
Sovetskaia Meditsina Dec 1953
Topics: Congenital Abnormalities; Craniofacial Abnormalities; Craniosynostoses; Humans; Musculoskeletal Abnormalities; Skull
PubMed: 13135735
DOI: No ID Found -
Neurocirugia Oct 1955
Topics: Congenital Abnormalities; Craniofacial Abnormalities; Craniosynostoses; Musculoskeletal Abnormalities; Skull
PubMed: 13297103
DOI: No ID Found -
Archivos de Pediatria Del Uruguay Jul 1954
Topics: Congenital Abnormalities; Craniofacial Abnormalities; Craniosynostoses; Humans; Musculoskeletal Abnormalities; Skull
PubMed: 13198638
DOI: No ID Found -
Journal of Pediatric Surgery Oct 2009Chest wall deformities such as pectus excavatum, pectus carinatum, and cleft sternum can be isolated malformations or dysmorphic features of genetic associations,... (Review)
Review
Chest wall deformities such as pectus excavatum, pectus carinatum, and cleft sternum can be isolated malformations or dysmorphic features of genetic associations, monogenic disorders, and various numeric and structural chromosomal aberrations. In contrast to the most important syndromes such as Marfan syndrome or Noonan syndrome that can be associated with a chest wall deformity and for which the causative genes are known, etiology of isolated chest wall deformities is still a matter of research. Therefore, an interdisciplinary approach, particularly in patients with additional symptoms is strongly recommended to choose the best therapeutic approach for each patient and its family.
Topics: Abnormalities, Multiple; Adult; Child; Female; Funnel Chest; Humans; Male; Marfan Syndrome; Musculoskeletal Abnormalities; Noonan Syndrome; Sternum; Syndrome; Thoracic Wall
PubMed: 19853763
DOI: 10.1016/j.jpedsurg.2009.07.029 -
Anales de Cirugia 1955
Topics: Congenital Abnormalities; Connective Tissue Diseases; Humans; Musculoskeletal System; Spinal Diseases; Spine
PubMed: 13259132
DOI: No ID Found -
Proceedings of the Royal Society of... Aug 1949
Topics: Bone Diseases, Developmental; Humans; Knee; Lower Extremity Deformities, Congenital; Musculoskeletal System
PubMed: 18138759
DOI: No ID Found