First‐trimester prenatal diagnosis of a thoracic cystic lesion associated with fetal skin edema

Jauniaux, Eric; Hertzkovitz, R.; Hall, Jolie

doi:10.1046/j.1469-0705.2000.00020.x

Cited by 12 publications

(9 citation statements)

References 22 publications

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“…In decreasing order of frequency, lipomata, disorders of pigmentation and erythema, alopecia and hair shaft abnormalities, acrocyanosis, hypertrichosis palmoplantar keratoderma, anhydrosis, purpuric lesions and dermatomyositis were all reported in patients with mitochondrial disorders (Birch-Machin, 2000). Since skin edema has not been previously associated with mtDNA depletion, we searched for other causes (Loverro et al, 1996;Jauniaux et al, 2000), nonetheless, the lack of other signs of hydrops fetalis or generalized capillary leak, the normal karyotype and the absence of thoracic lesions, together with the birth of the normal sister, all suggest that the skin edema is part of the mtDNA depletion syndrome in this family.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial DNA depletion presenting prenatally with skin edema and multisystem disease immediately after birth

Arnon¹,

Aviram²,

Dolfin³

et al. 2002

Prenatal Diagnosis

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We describe two newborn sisters who presented in the third trimester with diminished fetal movements and skin edema, but with no other signs of hydrops fetalis. Within hours of birth, both developed profound lactic acidemia, followed by multi-organ failure. In muscle mitochondria, the activity of all enzymatic complexes that contain mitochondrial DNA (mtDNA)-encoded subunits was markedly decreased. Southern blot analysis revealed a profound reduction in the mtDNA/nuclear DNA ratio, implying mtDNA depletion. The prenatal identification of skin edema in two patients with mtDNA depletion, and its absence in a healthy sibling, suggest that skin edema should be regarded as a novel manifestation of mtDNA depletion. This finding shows that mtDNA depletion can present prenatally and, consequently, may aid the clinician in making a diagnosis, prenatally, of this genetic defect.

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Section: Discussionmentioning

confidence: 99%

Mitochondrial DNA depletion presenting prenatally with skin edema and multisystem disease immediately after birth

Arnon¹,

Aviram²,

Dolfin³

et al. 2002

Prenatal Diagnosis

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“…This therefore strongly suggested the diagnosis of a pericardial cyst. However, as with the case reported by Jauniaux et al, 1 there was not pathological proof to establish the final diagnosis. The earliest prenatal diagnosis of a pericardical cyst was reported at 14 weeks by Lewis et al 8 At that time, a 10-mm cyst was identified adjacent to the right ventricular wall.…”

Section: Discussionmentioning

confidence: 71%

Transient fetal intrathoracic cyst first detected during the 11- to 13-week scan: A resolving pericardial cyst?

Sepúlveda¹,

Stuardo

2022

Ultrasound

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Introduction: The prenatal detection of an intrathoracic cyst during the first trimester of pregnancy is an exceedingly rare condition. In this report, we describe a case of first-trimester intrathoracic cyst causing cardiac dextroposition, which resolved by 24 weeks’ gestation. Case report: A 5-mm intrathoracic cyst causing cardiac dextroposition was detected during the routine sonographic scan performed at 12 weeks + 2 days. The cyst remained stable in size until 20 weeks and was no longer identified during focused fetal echocardiography at 24 weeks. Discussion: Our case demonstrates that a first-trimester intrathoracic cyst can have a benign course, either by remaining stable in size or even undergoing complete resolution during the second trimester. A focused sonographic examination should therefore be undertaken as follow-up to determine the final prognosis of these lesions. Conclusion: The etiology of intrathoracic cysts detected in the first trimester is unclear and could represent a resolving pericardial cyst.

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“…A true pathophysiological association has been identified in only a few conditions in which the intrathoracic pressure is high and in which the hemodynamic changes may mimic those seen with aortic coarctation. In conditions such as diaphragmatic hernia (31), thoracic lesions (32), and esophageal atresia (33), the vessels in the fetuses' head and neck become congested and this is followed by the occurrence of nuchal edema (28).…”

Section: Resultsmentioning

confidence: 99%

The clinical evaluation and pregnancy outcome of euploid fetuses with increased nuchal translucency

Maymon

Herman

2004

Clinical Genetics

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This review aims to address the systematic work-up and counseling throughout pregnancies with increased nuchal translucency (NT) in euploid fetuses. Original articles from peer-reviewed English-language journals between 1997 and 2003 were studied. They all included descriptions of pregnancy outcomes of euploid fetuses with increased NT. Eleven studies reporting on the pregnancy outcome of 2128 euploid fetuses with increased NT (> or = 3 mm or > or = 95 centile) were retrieved by our literature search. A statistical analysis was conducted for assessing the consistency of effects across studies. The chi2 tests were applied to verify the homogeneity of the results from different series. A significant difference was found between the studies even when the results were analyzed separately according to various NT cutoff levels (i.e. > or = 3 mm, > or = 3.5-4 mm, and > or = 95 centile). These discrepancies suggest that those studies are significantly different and therefore, cannot be combined for meta-analysis. Of all the reported series, 2.2-10.6% of the fetuses have miscarried and 0.5-15.8% ended in perinatal death. There was an overall rate of 0.5-12.7% neurodevelopmental problems, and 2.1-7.6% of the malformations which were undiagnosed before birth. Importantly, 70-90% fetuses had normal outcomes. A detailed two-step anomaly scan including midgestation fetal echocardiography should be part of perinatal management of pregnancies with increased fetal NT. Data on relevant family history and persistence of nuchal edema provide additional relevant information for planning pregnancy management.

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First‐trimester prenatal diagnosis of a thoracic cystic lesion associated with fetal skin edema

Cited by 12 publications

References 22 publications

Mitochondrial DNA depletion presenting prenatally with skin edema and multisystem disease immediately after birth

Mitochondrial DNA depletion presenting prenatally with skin edema and multisystem disease immediately after birth

Transient fetal intrathoracic cyst first detected during the 11- to 13-week scan: A resolving pericardial cyst?

The clinical evaluation and pregnancy outcome of euploid fetuses with increased nuchal translucency

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