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

Zirpoli, Salvatore; Munari, Alice; Rustico, Mariangela; Bulfamante, Gaetano; Lista, Gianluca; Spaccini, Luigina; Cesaretti, Claudia

doi:10.11138/jpm/2016.10.3.015

Cited by 3 publications

(2 citation statements)

References 13 publications

(10 reference statements)

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“… 16 , 31 In addition, a decreased total fetal lung volume (FLV) measured by prenatal magnetic resonance imaging (MRI) and ultrasound together with a lowered MRI signal intensity can be used to detect fetal pulmonary hypoplasia associated with multiple diffuse lung developmental disorders among others, including ACD/MPV. 32 An early detection of ACD/MPV allows adequate prenatal counseling regarding the dismal prognosis although the postnatal clinical course must be observed as it differs between patients. Histological examination will be necessary to confirm the diagnosis.…”

Section: Diagnosismentioning

confidence: 99%

“…However, if there is a high suspicion for ACD/MPV, for instance after an earlier familial case, fetal genetic testing for deletions and mutations in the FOXF1 locus could contribute to an early diagnosis 16 , 31 . In addition, a decreased total fetal lung volume (FLV) measured by prenatal magnetic resonance imaging (MRI) and ultrasound together with a lowered MRI signal intensity can be used to detect fetal pulmonary hypoplasia associated with multiple diffuse lung developmental disorders among others, including ACD/MPV 32 . An early detection of ACD/MPV allows adequate prenatal counseling regarding the dismal prognosis although the postnatal clinical course must be observed as it differs between patients.…”

Section: Diagnosismentioning

confidence: 99%

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Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects

et al. 2018

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Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare and lethal disorder mainly involving the vascular development of the lungs. Since its first description, significant achievements in research have led to a better understanding of the underlying molecular mechanism of ACD/MPV and genetic studies have identified associations with genomic alterations in the locus of the transcription factor FOXF1. This in turn has increased the awareness among clinicians resulting in over 200 cases reported so far, including genotyping of patients in most recent reports. Collectively, this promoted a better stratification of the patient group, leading to new perspectives in research on the pathogenesis. Here, we provide an overview of the clinical aspects of ACD/MPV, including guidance for clinicians, and review the ongoing research into the complex molecular mechanism causing this severe lung disorder.

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Section: Diagnosismentioning

confidence: 99%

Section: Diagnosismentioning

confidence: 99%

Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects

et al. 2018

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Interstitial lung disease in the newborn

Giunta-Stibb,

Hackett

2024

J Perinatol

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Natural courses and prognostic factors of pulmonary underdevelopment except for congenital diaphragmatic hernia

김민수

최윤정

이승현

et al. 2020

Allergy Asthma Respir Dis

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Purpose: Pulmonary underdevelopment is one of the pulmonary causes of neonatal mortality, which is categorized into pulmonary agenesis, pulmonary aplasia, and pulmonary hypoplasia. Congenital diaphragmatic hernia is a well-known cause of pulmonary hypoplasia; however, further studies are needed for other etiologies. Patients with pulmonary underdevelopment show varying degrees of clinical severity. Most patients with pulmonary underdevelopment have respiratory distress at birth, while a few have only mild symptoms. Our study investigated the natural course and prognosis of pulmonary underdevelopment by analyzing multiple cases from a single tertiary medical center. Methods: A retrospective review was conducted on patients diagnosed with pulmonary hypoplasia and agenesis from January 2000 to August 2019. Cases were extracted from the clinical database of Seoul National University Children's Hospital by searching for keywords related to pulmonary underdevelopment. Results: A total of 28 patients were identified. Four patients had pulmonary agenesis, and all were idiopathic. Twenty-four patients had evidence of pulmonary hypoplasia with diverse causes. The median age at diagnosis was 11.5 days (range, 1-240 days) and the mean gestational age was 35 weeks 2 days± 3 weeks 6 days. Twenty patients received ventilator care and 11 had various degrees of pulmonary hypertension. The long-term survival rate was 50%. The median age of death among pulmonary hypoplasia patients were 11 days (range, 1-730 days). All patients without ventilator care survived. The incidence of ventilator care, pneumothorax, and pulmonary hypertension were significantly higher among patients who died. Conclusion:The prognosis of pulmonary underdevelopment depends on the severity of respiratory distress and pulmonary hypertension in earlier life. Patients with severe distress appear to have severe degree of pulmonary hypoplasia. Patients without ventilator support in the neonatal period survived without significant morbidities.

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

Cited by 3 publications

References 13 publications

Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects

Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects

Interstitial lung disease in the newborn

Natural courses and prognostic factors of pulmonary underdevelopment except for congenital diaphragmatic hernia

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