Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center

Toru, Havva Serap; Nur, Banu; Sanhal, Cem Yaşar; Mıhçı, Ercan; Mendilcioğlu, İnanç; Yilmaz, Elanur; Yilmaz, Gulden Tasova; Özbudak, İrem Hicran; Karaali̇, Kami̇l; Alper, Özgül M.; Karaveli, Fatma Şeyda

doi:10.3109/15513815.2015.1068414

Cited by 9 publications

(3 citation statements)

References 28 publications

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“…Chromosomal microarray analysis (CMA) can detect genome-wide copy number variants (CNVs) and loss of heterozygosity that may account for some abnormal fetal phenotypes (Stosic, Levy, & Wapner, 2018). Some fetuses with short long bones caused by skeletal dysplasia are confirmed to have a monogenic disease that cannot be detected by CMA or karyotyping (Toru et al, 2015). Thus, genetic mutation testing and whole exome sequencing have begun to be used to detect genetic skeletal developmental disorders.…”

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confidence: 99%

Clinical value of genetic analysis in prenatal diagnosis of short femur

Liu

Huang

et al. 2019

Molec Gen & Gen Med

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BackgroundFetal femur length (FL) is an important biometric index in prenatal screening. The etiology of short femur is diverse, with some pathogenic causes leading to adverse outcomes. To improve the accuracy and practicability of diagnosis, we investigated the value of genetic analysis in prenatal diagnosis of short femur.MethodsWe examined chromosomal microarray analysis (CMA) (64 fetuses) and karyotyping (59 fetuses) data retrospectively for short femur without fetal growth restriction (FGR). Genetic testing was conducted for 15 fetuses.ResultsKaryotyping and CMA detected chromosomal aberrations at rates of 13.6% and 27.2%, respectively. Among fetuses with other abnormalities, detection rates were 21.0% higher with CMA than karyotyping. CMA identified chromosomal abnormalities in 36.4% of cases with a FL 2–4 standard deviations (SDs) below the gestational age (GA) mean. Abnormality detection by CMA reached 38.5% in the second trimester. Duplication of 12p, 16p13.1 deletion, and uniparental disomy 16 were identified by CMA in three cases of short femur. Gene sequencing detected clinically notable mutations in 12/15 fetuses, among which 9/12 fetuses had FLs >4 SDs below the GA mean.ConclusionsCMA yielded a higher detection value than karyotyping in fetuses with other abnormalities or a FL 2–4 SDs below the GA mean during the second trimester. Gene sequencing should be performed when FL is >4 SDs below the mean.

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confidence: 99%

Clinical value of genetic analysis in prenatal diagnosis of short femur

Liu

Huang

et al. 2019

Molec Gen & Gen Med

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“…Achondroplasia is generally suspected around 24-25 weeks of gestation using routine ultrasound [22][23][24] although prenatal diagnosis of skeletal dysplasias may be challenging due to phenotypic variability [25]; indeed, the accuracy of prenatal ultrasound in detecting a specific skeletal dysplasia has been reported as 40 to 60% [26]. Ceroni and colleagues [6] reported the natural history of 39 patients with achondroplasia followed in a reference center in Brazil.…”

Section: Role Of Gynecologists and Obstetricians In Prenatal Diagnosi...mentioning

confidence: 99%

Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients

et al. 2022

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Background Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum and spinal compression. Additionally, patients affected with this condition have higher frequency of sleep disorders, ear infections, hearing loss and slowed development milestones. Considering these clinical features, we aimed to summarize the regional experts’ recommendations for the multidisciplinary management of patients with achondroplasia in Latin America, a vast geographic territory with multicultural characteristics and with socio-economical differences of developing countries. Methods Latin American experts (from Argentina, Brazil, Chile and Colombia) particiáted of an Advisory Board meeting (October 2019), and had a structured discussion how patients with achondroplasia are followed in their healthcare centers and punctuated gaps and opportunities for regional improvement in the management of achondroplasia. Results Practical recommendations have been established for genetic counselling, prenatal diagnosis and planning of delivery in patients with achondroplasia. An outline of strategies was added as follow-up guidelines to specialists according to patient developmental phases, amongst them neurologic, orthopedic, otorhinolaryngologic, nutritional and anthropometric aspects, and related to development milestones. Additionally, the role of physical therapy, physical activity, phonoaudiology and other care related to the quality of life of patients and their families were discussed. Preoperative recommendations to patients with achondroplasia were also included. Conclusions This study summarized the main expert recommendations for the health care professionals management of achondroplasia in Latin America, reinforcing that achondroplasia-associated comorbidities are not limited to orthopedic concerns.

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“…U 2018. godini skeletne anomalije su nađene u 6,78% fetalnih i neonatalnih obdukcija, u 2019. godini u 14,74%, dok je najmanje anomalija skeleta (5,26%) verifikovano u toku 2020. godine. Od ukupno 580 obdukcija tokom ovog perioda, u 48 su pronađene anomalije skeleta, što je 8,27% i u skladu sa rezultatima dobijenim u radovima drugih istraživača, u kojima se učestalost anomalija skeleta kreće od 7% do 10% (4,15).…”

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Frequency of skeletal anomalies in fetal and neonatal autopsies

Radojević¹,

Pjevčević²,

Putniković³

et al. 2021

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Introduction: Skeletal anomalies are a heterogeneous group of disorders including changes in bone shape, size, and density that cause abnormalities of the extremities, trunk, and head. They rank second in Europe in the frequency of all congenital anomalies. The most common skeletal anomalies include head, face and limb anomalies. Aim: The aim of this study was to determine the frequency of skeletal anomalies and their association with anomalies of internal organs, as well as to show the age of the mother and the gestational week of the fetus with established skeletal anomalies. Material and methods: All fetal and neonatal autopsies in the period from January 1, 2018 to December 31, 2020 at the Institute of Pathology "Djordje Joannovic" of the Faculty of Medicine University of Belgrade were analyzed. In the mentioned period, 580 fetal and neonatal autopsies were performed. Clinical data were obtained from the Gynecology and Obstetrics Clinic "Narodni Front" on the basis of completed requests for clinical autopsy. Descriptive statistics methods were used (data are presented as absolute numbers and percentage frequencies). Results: The most common skeletal anomalies are divided into seven groups: spina bifida (20; 33.34%), limb anomalies (16; 26.67%), head and face bone anomalies (15; 25%), joint anomalies (2; 3.33%), achondroplasia (3; 5%), osteogenesis imperfecta (2; 3.33%) and other anomalies (2; 3.33%). The most common associated anomalies were central nervous system (CNS) abnormalities, followed by heart and kidney abnormalities. The youngest mother was 15 years old, and the oldest was 47 years old. The mean age of the mothers was 30 years. Conclusion: In our study, the most common anomaly was spina bifida, while limb anomalies and craniofacial anomalies are next in frequency. Skeletal anomalies were often associated with anomalies of the heart, kidneys, and CNS. They were mostly diagnosed between the 22nd and 27th gestational week. Our results showed that skeletal anomalies are more common in fetuses or neonates of mothers older than 30 years.

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Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center

Cited by 9 publications

References 28 publications

Clinical value of genetic analysis in prenatal diagnosis of short femur

Clinical value of genetic analysis in prenatal diagnosis of short femur

Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients

Frequency of skeletal anomalies in fetal and neonatal autopsies

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