Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series (original) (raw)
Related papers
American Journal of Medical Genetics Part A, 2008
The osteochondrodysplasias or skeletal dysplasias are a heterogenous group of over 350 distinct disorders of skeletogenesis. Many manifest in the prenatal period, making them amenable to ultrasound prenatal diagnosis. A retrospective analysis evaluated 1,500 cases referred to the International Skeletal Dysplasia Registry (ISDR) to determine the relative frequency of specific osteochondrodysplasias and correlation of ultrasound versus radiographic diagnoses for these disorders. Within the retrospective cohort of 1,500 cases, 85% of the referred cases represented well-defined skeletal dysplasias, and the other 15% of cases were a mixture of genetic syndromes and probable early-onset intrauterine growth restriction. The three most common prenatal-onset skeletal dysplasias were osteogenesis imperfecta type 2, thanatophoric dysplasia and achondrogenesis 2, accounting for almost 40% of the cases. In a prospective analysis of 500 cases using a standardized ultrasound approach to the evaluation of these disorders, the relative frequencies of osteogenesis imperfecta type 2, thanatophoric dysplasia and achondrogenesis 2 were similar to the retrospective analysis. This study details the relative frequencies of specific prenatal-onset osteochondrodysplasias, their heterogeneity of prenatal-onset skeletal disorders and provides a standardized prenatal ultrasound approach to these disorders which should aid in the prenatal diagnosis of fetuses suspected of manifesting skeletal dysplasias.
Reumatizam, 2019
Osteochondrodysplasias comprise a large, genetically heterogeneous group of disorders characterized by abnormalities of cartilage and bone growth. They are often associated with abnormalities in other organ systems. They are classified as lethal or non-lethal skeletal dysplasias. Thanatophoric dysplasia is the most common form of lethal skeletal dysplasia with an incidence of 0.69 per 10.000 births. Heterozygous achondroplasia is the most common non-lethal dysplasia with an incidence of 0.15 per 10.000 births. We will present two cases of skeletal dysplasia. The first case is the case of lethal osteochondrodysplasia in the fetus of a 41-year-old multiparous woman, who came to our hospital in active preterm labor, in the 33th week of uncontrolled pregnancy. The second case is the case of non-lethal osteochondrodysplasia in the fetus of a 31-year-old multiparous woman. The fetal short femur length was detected in the 30th
Epidemiology of osteochondrodysplasias: Changing trends due to advances in prenatal diagnosis
American Journal of Medical Genetics, 1996
The osteochondrodysplasias (skeletal dysplasias) are a heterogeneous group of disorders characterized by abnormalities in cartilage and bone growth and development. Some of these disorders are detectable during the second trimester by sonographic techniques. We ascertained cases of osteochondrodysplasias in elective pregnancy terminations, stillborn infants older than 20 gestational weeks, and liveborn infants diagnosed by the fifth day of life as part of an ongoing active malformation surveillance program. Forty-nine cases of osteochondrodysplasias were identified among approximately 126,000 deliveries at Brigham and Women's Hospital (BWH) during a 15-year period (Feb. 16, 1972-Feb. 15, 1975; Jan. 1, 1979-Dec. 31, 1990). When cases delivered to women who had planned to deliver at another hospital but were transferred for high-risk care (transfers) were excluded, the prevalence rate was 2.14 cases per 10,000 deliveries. During the early period (1972-1975) no cases were suspected prenatally, while during the 1988-1990 period, 80% of all cases and 57% of cases delivered to women who had always planned to deliver at BWH (non-transfers) were suspected by ultrasonography. Birth status changed through our period of surveillance. In the final 3-year period (1988-1990), 40% of all cases and 29% of non-transfers with osteochondrodysplasias were pregnancy terminations, compared to none during the 1972-1975 period. The increasing frequency of pregnancy terminations complicated the diagnosis of these conditions. Despite extensive evaluation, a definitive diagnosis was not possible in 8 of 49 cases (16%). Biochemical and molecular genetic methods of diagnosis will continue to become more important if the current trend of wide utilization of prenatal sonography and termination of affected pregnancies continues.
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
Fetal magnetic resonance imaging of skeletal dysplasias
Pediatric Radiology, 2019
Background Fetal magnetic resonance imaging (MRI) is obtained for prenatal diagnosis and prognostication of skeletal dysplasias; however, related literature is limited. Objective The purpose of this study was to define the utility of fetal MRI for skeletal dysplasias and to report MRI findings associated with specific diagnoses. Materials and methods This retrospective study was approved by the institutional review board; informed consent was waived. Women referred for suspected fetal skeletal dysplasia who underwent MRI between January 2003 and December 2018 were included. Definitive diagnoses were determined by genetic testing, autopsy, physical examination and/or postnatal/postmortem imaging. Fetal MRI examinations and reports were reviewed. Descriptive statistics were used to summarize imaging findings. Results Eighty-nine women were referred for fetal MRI for possible skeletal dysplasia. Forty-three (48%) were determined to have a diagnosis other than skeletal dysplasia and nine were excluded for lack of specific skeletal dysplasia diagnosis. Thirty-seven cases of skeletal dysplasia with available fetal MRI and specific diagnosis were included for analysis. Diagnoses included achondrogenesis (n=2), achondroplasia (n=5), Boomerang dysplasia (n=1), campomelic dysplasia (n=2), Jeune syndrome (n=1), Kniest dysplasia (n=1), osteogenesis imperfecta (n=15) and thanatophoric dysplasia (n=10). A specific skeletal dysplasia diagnosis was mentioned in 17/37 (46%) of MRI imaging reports and correct for 14/17 (82%). MRI findings were reported for each specific skeletal dysplasia diagnosis. Conclusion Fetal MRI is a useful diagnostic tool for skeletal dyplasias and excluded the diagnosis in nearly half of referred pregnancies. In addition to providing fetal lung volumes, fetal MRI demonstrates findings of the brain in achondroplasia and thanatophoric dysplasia, of the spine in achondroplasia and achondrogenesis, of the calvarium in osteogenesis imperfecta and thanatophoric dysplasia, and of the cartilage in Kniest dysplasia.
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...
Assessment of Fetal Skeletal Abnormality by Ultrasonography
Thai Journal of Obstetrics and Gynaecology, 2017
Reported rates of sonographic detection of fetal anomaly vary widely. The purpose of this study was to determine the ability of the Fetal Medicine Unit at the University College Hospital London, in detecting fetal skeletal anomaly and to compare the results with other published series. The sonographic studies done in 208 skeletal abnormalities over 6 years period with pregnancy outcomes established by medical records and pathologic results of the infants whether born alive or dead were compared. Of these 65 (31%) cases were chromosomally abnormal, 20 (9%) cases had neural tube defects (NTD), 15 (7%) cases were multiple fetal abnormalities, 6 (3%) cases were intrauterine growth retardation, 35 (17%) cases had positional deformities, 8 (4%) cases were with formation of individual bones, 2 (1%) cases with non-syndromic digital abnormalities and 30 (14%) cases had skeletal dysplasias. In 17 (8%) cases no diagnosis was established whether based on gross morphology or pathological reports...
Prenatal diagnosis of hypochondroplasia: Report of two cases
American Journal of Medical Genetics Part A, 2006
Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACH). Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are present in a significant proportion of HCH patients. Reports of prenatal diagnosis of HCH are very rare and the phenotype/genotype correlation in these patients is poor. Here we present two sporadic cases with second trimester ultrasound findings consistent with a diagnosis of a nonlethal skeletal dysplasia. Ultrasound evaluation after 23 weeks of gestation showed a decreased rate of development of the femora (femur length <fifth centile), while biparietal diameter, abdominal circumference, and foot length were within normal limits. Femur length/foot and femur length/ abdominal circumference ratios were <0.87 and <0.18, respectively. Prenatal cytogenetic and molecular genetic analysis was performed. Karyotype was normal and FGFR3 G380R mutation characteristic of ACH was excluded in both fetuses. Molecular genetic analysis carried out retrospectively revealed that both fetuses were heterozygous for the C1620A mutation resulting in N540K substitution in FGFR3, the most common mutation in HCH. We conclude that the combination of ultrasound and molecular genetic approach is helpful for establishing an accurate diagnosis of HCH in utero and subsequently for appropriate genetic counseling and perinatal management.