Birth prevalence rates of skeletal dysplasias (original) (raw)
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Lethal and life-limiting skeletal dysplasias: Selected prenatal issues
Advances in Clinical and Experimental Medicine, 2021
Skeletal dysplasias are a heterogeneous group of congenital bone and cartilage disorders with a genetic etiology. The current classification of skeletal dysplasias distinguishes 461 diseases in 42 groups. The incidence of all skeletal dysplasias is more than 1 in every 5000 newborns. The type of dysplasia and associated abnormalities affect the lethality, survival and long-term prognosis of skeletal dysplasias. It is crucial to distinguish skeletal dysplasias and correctly diagnose the disease to establish the prognosis and achieve better management. It is possible to use prenatal ultrasonography to observe predictors of lethality, such as a bell-shaped thorax, short ribs, severe femoral shortening, and decreased lung volume. Individual lethal or life-limiting dysplasias may have more or less specific features on prenatal ultrasound. The prenatal features of the most common skeletal dysplasias, such as thanatophoric dysplasia, osteogenesis imperfecta type II, achondrogenesis, and campomelic dysplasia, are discussed in this article. Less frequent dysplasias, such as asphyxiating thoracic dystrophy, fibrochondrogenesis, atelosteogenesis, and homozygous achondroplasia, are also discussed.
Fetal and Pediatric Pathology, 2015
Skeletal dysplasias (SDs) constitute a group of heterogeneous disorders affecting growth morphology of the chondro-osseous tissues. Prenatal diagnosis of SD is a considerable clinical challenge due to phenotypic variability. We performed a retrospective analysis of the fetal autopsies series conducted between January 2006 and December 2012 at our center. SD was detected in 54 (10%) out of 542 fetal autopsy cases which included; 11.1% thanatophoric dysplasia (n = 6), 7.4% achondroplasia (n = 4), 3.7% osteogenesis imperfect (n = 2), 1.9% Jarcho-Levin Syndrome (n = 1), 1.9% arthrogryposis (n = 1), 1.9% Dyggve-Melchior-Clausen syndrome (n = 1), 72.1% of dysostosis cases (n = 39). All SD cases were diagnosed by ultrasonography. In 20 of the cases, amniocentesis was performed, 4 cases underwent molecular genetic analyses. Antenatal identification of dysplasia is important in the management of pregnancy and in genetic counseling. Our data analysis showed that SD is usually detected clinically after the 20th gestational week. Genetic analyses for SD may provide early diagnosis and management.
Prenatal diagnosis of the skeletal dysplasias
American Journal of Obstetrics and Gynecology, 1993
OBJECTIVE: We examined the accuracy of prenatal diagnosis of skeletal dysplasias and ways to refine this ability. STUDY DESIGN: A total of 226 fetuses and stillbirths referred for suspected skeletal dysplasia were evaluated. The fetal age, mode of ascertainment, and referring diagnosis were analyzed with regard to the final diagnosis. RESULTS: The leading mode of diagnosis was routine ultrasonography performed between 16 and 24 weeks' gestation. Twenty-two cases (9.7%) had previous sibs, parents, or cousins affected. The most common final diagnosis was osteogenesis imperfecta. In 15 cases (7%) the fetus did not appear to have a skeletal dysplasia or an obvious dysmorphic syndrome. CONCLUSIONS: Prenatal diagnosis of skeletal dysplasia can be made as early as 14 weeks. Most cases are sporadic. Fetal radiographs help in reaching an accurate diagnosis or at least in identifying the probable lethal disorders.
Antenatal detection of skeletal dysplasias
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine, 2003
To assess the accuracy of the prenatal diagnosis of skeletal dysplasias. All antenatally detected anomalies are coded in our ultrasound database, which is linked with a genetics database that includes outcomes. A final diagnosis is sought on the basis of radiographic studies, molecular testing, or both. Our ultrasound and genetics databases were queried for "skeletal dysplasias." All cases were reviewed specifically for the degree of bone shortening and other distinguishing characteristics on antenatal sonography. Thirty-seven cases of skeletal dysplasia were antenatally diagnosed over an 8-year period. Complete follow-up was available in 31 cases. The mean gestational age at diagnosis was 22.7 weeks (range, 14-32.3 weeks). Twenty-one cases were diagnosed before 24 weeks. A final diagnosis was obtained in 80% of cases. The antenatal diagnosis was correct in 20 (65%) of 31 cases. There were 2 false-positive diagnoses. Specific final diagnoses included thanatophoric dysplasi...
Approach to the diagnosis of skeletal dysplasias: Experience at a center with limited resources
Journal of Clinical Ultrasound, 2016
Purpose. A fetus with skeletal disorder poses diagnostic challenges in a resource-poor setting with limited management options. The objective of the study was to develop a step-by-step approach for the diagnosis of skeletal dysplasia in light of the limited resources available. Methods. An algorithmic approach was used. The assessment for lethality was the first step, followed by the evaluation for fractures. In cases without evidence of fracture, severe constriction of thorax or associated polydactyly were searched for. In cases without severe thoracic constriction, the severity of micromelia was evaluated. After delivery, fetal examination was done to ascertain the etiology. Results. During the 6-year period, 41 cases with shortened long bones were fully evaluated. Lethality was suspected in 30 cases. Fracture and beading were present in eight cases, and severe thoracic constriction with polydactyly was observed in seven cases. Mild micromelia was seen in 19 cases and severe micromelia in 7 cases. Among lethal skeletal dysplasias, thanatophoric dysplasia was most common (six cases). Among nonlethal skeletal dysplasias, achondroplasia was seen in eight cases. Conclusions. Lethality of skeletal dysplasia could be predicted on prenatal ultrasound with 100% accuracy. The step-by-step approach was helpful to characterize skeletal dysplasias. V
Prenatal prevalence of skeletal dysplasias and a proposal ultrasonographic diagnosis approach
2012
OBJECTIVE To determine the prevalence of fetal bone dysplasias diagnosed at the Department of Maternal Fetal Medicine (UNIMEF) of the Instituto Nacional de Perinatologia (INPer); and to describe the most frequent skeletal dysplasias and to propose a diagnostic flow chart. MATERIALS AND METHODS This is a case series study including skeletal dysplasias cases from January 1995 until December 2009 at the UNIMEF Statistical analysis was performed using SPSS 12 statistical software. RESULTS A total of 81,892 births were registered at the institution during the study period. The prevalence of bone dysplasia was 8.1 per 10,000 births. We used a diagnostic flow chart that was developed at our institution to diagnose skeletal dysplasias. Micromelia (n = 40, 59.7%) and both rhizomelia and mesomelia (n = 17, 25.3%) were highly prevalent. We found other structural anomalies in 40 cases (61.1%), which were associated with different skeletal dysplasias; these other anomalies were mainly congenital...
Prenatal Diagnosis of Skeletal Dysplasia and Review of the Literature
Case Reports in Obstetrics and Gynecology
Introduction. Obstetric ultrasonography is routinely used to screen for fetal anomalies. Thanatophoric dysplasia (TD) is one of the common though rare lethal skeletal dysplasia, detected during routine ultrasound scan. TD is caused by a mutation in FGFR3 gene. Characteristic features include shortening of limbs, macrocephaly and platyspondyly. In our local setting, it is common to miss the diagnosis in the early scans due to lack of expertise of the sonographers. To the best of our knowledge, this is the first publication from Ghana. Case Presentation. We present the case of a 33-year-old woman who was referred to the facility on account of ultrasound scan report suggestive of thanatophoric dysplasia type 1 at 34 weeks of a female baby. The diagnosis was not made despite the mother being a regular antenatal attendant, until a fifth scan done at 34 weeks reported features suggestive of thanatophoric dysplasia. The ultrasound scan features included a biparietal diameter of 37weeks, fe...
Donald School Journal of Ultrasound in Obstetrics and Gynecology, 2011
The word dysplasia originates from the ancient Greek words dys (anomalous) and plasia (formation). Skeletal dysplasia (SD) is a heterogeneous group of congenital anomalies characterized by abnormalities in the development of bone and cartilage tissues. These diseases may present either in the form of isolated findings or a phenotypic manifestation of a chromosomal aberration or a genetic disorder. Prenatal diagnosis is mainly on the ultrasonographic appearance, which is usually achieved during the second trimester of pregnancy. Two-dimensional ultrasonography may detect the majority of SD, however, difficulties in the diagnosis as well as the differential diagnosis are frequently arising. In such cases, further evaluation is needed by the use of additional imaging modalities or by invasive procedures, in order to detect an underlying chromosomal abnormality or a single gene disorder. Accurate diagnosis is crucial in order to establish successful genetic counseling as well as appropriate case management. This approach includes the use of three-dimensional ultrasonography and three-dimensional computed tomography; whereas fetal magnetic resonance imaging is less important. These new imaging modalities have an important role in the prenatal multidisciplinary approach of the diagnosis of SD. Despite the indisputable progress that has been achieved during the last few years, in some cases, the antenatal detection of SD delays and is feasible only at the late second or even third trimester. Thus, important ethical and medical issues arise in the antenatal management and counseling of these pregnancies, particularly in the case of lethal SD.
Guidelines for the prenatal diagnosis of fetal skeletal dysplasias
Genetics in Medicine, 2009
The osteochondrodysplasias, or skeletal dysplasias are a genetically heterogeneous group of over 350 distinct disorders, and many of them can present in the prenatal period as demonstrated by ultrasound. Differentiating these disorders in the prenatal period can be challenging because they are rare and many of the ultrasound findings are not necessarily pathognomic for a specific disorder. However, differentiating known lethal disorders from nonlethal disorders, providing differential diagnoses before delivery, determining postdelivery management plans and ultimately determining accurate recurrences risks to the at-risk couples improves patient care. These guidelines provide an approach to a fetus suspected of manifesting a skeletal dysplasia. Keywords skeletal dysplasias; osteochondrodysplasias; prenatal diagnosis; ultrasound Diagnosis of prenatal-onset skeletal dysplasias can be accomplished by ultrasound evaluation and confirmed by both molecular testing using invasive procedures and postdelivery radiographs and autopsy, including histomorphic analysis of cartilage and bone. Obtaining a precise diagnosis by prenatal ultrasound diagnosis can be challenging. However, utilization of two and three-dimensional ultrasound can identify abnormal skeletal elements, and by analyzing the constellation of findings, a differential diagnosis can be achieved. These