Antenatal Diagnosis of Fetal Skeletal Malformation

Abushama, Mandy; Rawhani, Ramez; Abdellatif, A.M.M.

doi:10.5005/jp-journals-10009-1561

Cited by 3 publications

(3 citation statements)

References 124 publications

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“…Fetal skeletal dysplasia is an osteochondroblastic disease that has strong clinical heterogeneity, affecting approximately 2.4–4.5 of 10,000 births [1–4]. Although fetal skeletal dysplasia is associated with few chromosomal abnormalities, this disease is mostly associated with mutations in genes that regulate bone formation [5, 6].…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases

et al. 2019

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Background This study aims to provide genetic diagnoses for 30 cases of fetal skeletal dysplasia, and a molecular basis for the future prenatal diagnosis of fetal skeletal dysplasia. Methods A total of 30 cases of fetal skeletal dysplasia detected with ultrasound between January 2014 and June 2017 were analyzed. Among these fetuses, 15 fetuses had local skeletal malformations, while 15 fetuses had short limb malformations. Samples of fetal umbilical cord blood, amniotic fluid, and/or aborted tissue were collected from all cases. Karyotyping, whole genome sequencing, and targeted next-generation sequencing of skeletal disease-related pathogenic genes were performed, as needed. Blood samples were taken from the parents for verification using Sanger sequencing. Results Among the 30 cases of fetal skeletal dysplasia, two cases were diagnosed with trisomy 18. However, none of these cases were identified with any microdeletions or microreplications associated with skeletal dysplasia. Among the 28 chromosomally normal cases with fetal skeletal dysplasia, 21 cases were detected with mutations in genes related to skeletal diseases. Furthermore, collagen gene mutations were detected in six fetuses with short limb malformations, while heterozygous disease-causing mutations in the fibroblast growth factor receptor 3 ( FGFR3 ) gene were detected in seven fetuses. The remaining fetuses carried mutations in other various genes, including tumor protein p63 ( TP63 ), cholestenol delta-isomerase ( EBP ), cholinergic receptor nicotinic gamma subunit ( CHRNG ), filamin B ( FLNB ), and SRY-box 9 ( SOX9 ). Three compound heterozygous mutations in CHRNG , COL11A2 and SOX9 were carried by phenotypically healthy parents. Conclusion Targeted next-generation sequencing can significantly improve the prenatal diagnoses of fetal skeletal dysplasia, providing parents with more precision medicine, and improved genetic counseling.

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Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases

et al. 2019

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“…Analyzing the data of the Conover-Iman test on statistically significant medians of the studied parameters of the skull and face, we can conclude that the pair "10 months -Newborns" is unlikely for transverse skull length, face width, skull height, total face height. In our opinion, this is justified by the fact that each person has an individual anatomical variability [16].…”

Section: Discussionmentioning

confidence: 99%

“…The severity of malformations of the face is manifested not only by external ugliness and the severity of functional disorders, but also negatively affects the mental development of the child [6,12,16].…”

Section: Introductionmentioning

confidence: 99%

Morphometric characteristics of skull and face parameters in fetuses and newborns

2021

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Modern science has a significant number of diagnostic methods: craniological, anatomical, ultrasound, radiological. The development of new research methods, such as ultrasound and X-ray methods (magnetic resonance imaging), forms the concept of ultrasound and X-ray norms at different stages of human development. Now it is important to study the anatomical variability of people, morphometric characteristics, relationships of organs, anatomical structures, their parts at all stages of human development. The purpose of the work is to establish normative morphometric parameters of the skull and face in fetuses and newborns, followed by construction of mathematical models. The study was performed on 57 preparations of human fetuses 4-10 months and 7 newborns using adequate anatomical methods: macropreparation, topographic anatomical sections, computed tomography, craniometry. The main parameters of the facial and cerebral skull were measured with the help of a centimeter tape, a thick, sliding compass and a caliper. Statistical analysis of the obtained data was performed using a licensed program RStudio. It is established that according to the graphs of the average values of the parameters of the skull and face, there are two periods of accelerated and two periods of slow development. For transverse skull length, face width and skull height, two periods of accelerated development from the 6th to the 8th month of fetal development and from the 9th month of fetal development to the neonatal period and two periods of delayed development from the 5th to the 6th months and from the 8th to the 9th month of fetal development were revealed. For the total height of the face – periods of accelerated development – from the 4th to the 6th month of fetal development and from the 7th to the 9th month of fetal development, periods of delayed development – from the 6th to the 7th month of fetal development and from the 9th month of fetal development to the neonatal period. On the basis of arithmetic mean data of transverse skull length, face width, skull height, total face height, models for predicting normative morphometric parameters in fetuses and newborns are constructed. The constructed models will serve as a norm for the subsequent determination of certain morphometric deviations to establish variants of the structure and malformations of the skull and face. Thus, our systematized data on the features of spatio-temporal transformations of morphometric parameters of transverse skull length, face width, skull height, total face height with subsequent construction of mathematical models will contribute to the individualization of the norm, improvement of early diagnosis methods and development of new methods for surgical correction of congenital defects of the skull and face.

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Revisiting Skeletal Dysplasias in the Newborn

Langston¹,

Krakow²,

Chu³

2021

NeoReviews

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With over 400 reported disorders, the skeletal dysplasias represent a myriad of molecularly-based skeletal abnormalities. Arising from errors in skeletal development, the clinical spectrum of disease evolves through an affected individual’s life. The naming and grouping of these disorders are ever-changing, but the fundamentals of diagnosis remain the same and are accomplished through a combination of prenatal ultrasonography and postnatal physical examination, radiography, and genetic analysis. Although some disorders are lethal in the perinatal and neonatal periods, other disorders allow survival into infancy, childhood, and even adulthood with relatively normal lives. The foundation of management for an affected individual is multidisciplinary care. Medical advances have offered new insights into reducing common morbidities through pharmacologic means. This review summarizes the normal skeletal development and discusses the 3 most common skeletal dysplasias that can affect the newborn.

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Antenatal Diagnosis of Fetal Skeletal Malformation

Cited by 3 publications

References 124 publications

Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases

Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases

Morphometric characteristics of skull and face parameters in fetuses and newborns

Revisiting Skeletal Dysplasias in the Newborn

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