Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletal dysplasias: a three-dimensional ultrasound assessment

Barros, C. Amorim de; Rezende, Guilherme de Castro; Júnior, Edward Araujo; Tonni, Gabriele; Pereira, Alamanda Kfoury

doi:10.3109/14767058.2015.1064887

Cited by 14 publications

(14 citation statements)

References 26 publications

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“…In our case prenatal US and MR findings of serious bilateral pulmonary hypoplasia, not associated with other abnormalities (such as congenital diaphragmatic hernia, congenital lung masses, giant omphalocele, severe oligohydramnios and skeletal dysplasia), suggested a diffuse disorder of lung development. A large number of studies, predominantly with regard to fetuses with congenital diaphragmatic hernia, has shown the correlation between FLV and neonatal pulmonary hypoplasia (9)(10)(11). We evaluated FLV, both with US and MR studies.…”

Section: Discussionmentioning

confidence: 99%

Fetal-MRI prenatal diagnosis of severe bilateral lung hypoplasia: alveolar capillary dysplasia case report

Zirpoli

Munari

Rustico

et al. 2016

JPM

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Section: Discussionmentioning

confidence: 99%

Fetal-MRI prenatal diagnosis of severe bilateral lung hypoplasia: alveolar capillary dysplasia case report

Zirpoli

Munari

Rustico

et al. 2016

JPM

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“…There are two major biometrics associated with lethality: FL-to-abdominal circumference ratio (FL-to-AC ratio) and foetal lung volume [ 18 , 35 , 36 , 37 , 38 ]. Because OI is a rare condition, the criteria for lethality are usually examined in conjunction with other skeletal dysplasias.…”

Section: Diagnosismentioning

confidence: 99%

Current Overview of Osteogenesis Imperfecta

et al. 2021

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Osteogenesis imperfecta (OI), or brittle bone disease, is a heterogeneous disorder characterised by bone fragility, multiple fractures, bone deformity, and short stature. OI is a heterogeneous disorder primarily caused by mutations in the genes involved in the production of type 1 collagen. Severe OI is perinatally lethal, while mild OI can sometimes not be recognised until adulthood. Severe or lethal OI can usually be diagnosed using antenatal ultrasound and confirmed by various imaging modalities and genetic testing. The combination of imaging parameters obtained by ultrasound, computed tomography (CT), and magnetic resource imaging (MRI) can not only detect OI accurately but also predict lethality before birth. Moreover, genetic testing, either noninvasive or invasive, can further confirm the diagnosis prenatally. Early and precise diagnoses provide parents with more time to decide on reproductive options. The currently available postnatal treatments for OI are not curative, and individuals with severe OI suffer multiple fractures and bone deformities throughout their lives. In utero mesenchymal stem cell transplantation has been drawing attention as a promising therapy for severe OI, and a clinical trial to assess the safety and efficacy of cell therapy is currently ongoing. In the future, early diagnosis followed by in utero stem cell transplantation should be adopted as a new therapeutic option for severe OI.

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“…The earlier in a pregnancy that short femurs (>2 SD below mean for gestational age) are identified the more likely that the skeletal dysplasia will be of a lethal type [151]. An estimation of lung volume is essential as lethality arise from pulmonary hypoplasia resulting in inadequate pulmonary surface area for effective respiratory exchange [152]. Other features predicative of a lethal skeletal dysplasia are: decreased femur length to abdominal circumference ratio, visceral abnormalities, severe polyhydramnios and fetal hydrops [153].…”

Section: Skeletal Dysplasiasmentioning

confidence: 99%

Fetal hydrops – a review and a clinical approach to identifying the cause

Dempsey

Homfray

Simpson

et al. 2020

Expert Opinion on Orphan Drugs

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• Fetal hydrops is the abnormal accumulation of fluid in two or more extravascular fetal compartments. • Fetal hydrops confers a high risk of morbidity and mortality. • Fetal hydrops can be divided into immune (largely materno-fetal alloimmunisation) and non-immune. • Non-immune fetal hydrops can be caused by a multitude of different causes including infection, congenital malformation, chromosome abnormalities and single-gene disorders. • The identification of fetal anaemia from the second trimester is crucial to guiding further investigations. • Many cases of fetal hydrops remain undiagnosed and we believe a significant proportion of these have underlying genetic lymphatic dysplasias. • As exome or whole genome sequencing becomes increasingly available, genetic testing will feature earlier in the diagnostic pathway.

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Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletal dysplasias: a three-dimensional ultrasound assessment

Abstract: This study suggests that the 3DUS lung volume measurement is a good predictor of lethal pulmonary hypoplasia in fetuses with skeletal dysplasia, with high accuracy.

Cited by 14 publications

References 26 publications

Fetal-MRI prenatal diagnosis of severe bilateral lung hypoplasia: alveolar capillary dysplasia case report

Fetal-MRI prenatal diagnosis of severe bilateral lung hypoplasia: alveolar capillary dysplasia case report

Current Overview of Osteogenesis Imperfecta

Fetal hydrops – a review and a clinical approach to identifying the cause

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