Familial nuchal cystic hygroma without fetal effects: Genetic counselling and further evidence for an autosomal recessive subtype

Bianca, Sebastiano; Bartoloni, Giovanni; Boemi, G; Barrano, Barbara; Barone, Chiara; Cataliotti, Antonella; Indaco, Lara; Ettore, Giuseppe

doi:10.1111/j.1741-4520.2010.00273.x

Cited by 13 publications

(6 citation statements)

References 13 publications

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“…About 70e80% of cystic hygromas occur in the neck [2], while the remaining 20e30% of the tumors occurs in the axillary region and other rare locations [9]. It is believed that a septated cyst results from complete obstruction of the lymphatic sacs, preventing communication with the jugular venous system and causing large multilocular cysts; while a nonseptated cyst results from temporary accumulation due to incomplete obstruction of lymphatic drainage [10].…”

Section: Discussionmentioning

confidence: 99%

Giant fetal lymphangioma at chest wall and prognosis: Case report and literature review

Yu-he

Zeng

et al. 2015

Taiwanese Journal of Obstetrics and Gynecology

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Section: Discussionmentioning

confidence: 99%

Giant fetal lymphangioma at chest wall and prognosis: Case report and literature review

Yu-he

Zeng

et al. 2015

Taiwanese Journal of Obstetrics and Gynecology

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“…Prenatal diagnosis of CH via ultrasound is based on demonstration of a bilateral, mostly symmetric, cystic structure located in the occipitocervical region, with the lesion either septated by internal trabeculae (septated) or not (nonseptated) ( 4 ). It was formerly asserted that obstruction in the fetal cervical lymphatics may trigger the accumulation of lymphatic fluid and the degree of obstruction may lead to the presence and extensiveness of septations.…”

Section: Introductionmentioning

confidence: 99%

Prenatal management, pregnancy and pediatric outcomes in fetuses with septated cystic hygroma

Sanhal

Mendilcioğlu

Ozekinci

et al. 2014

Braz J Med Biol Res

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It has been reported that, compared with simple increased nuchal translucency, fetal cases with septated cystic hygroma (CH) are more likely to face perinatal handicaps. However, pediatric outcomes and proper prenatal counseling for this anomaly have not yet been truly defined. We performed this study to determine pregnancy and pediatric outcomes of fetuses with septated CH. We searched records for cases with septated CH and collected data for structural abnormalities, karyotype analysis, and pregnancy outcomes. Fetuses born with septated CH were also evaluated for their pediatric outcomes. Sixty-nine fetuses with septated CH were enrolled in the study. Results showed that chromosomal abnormalities were present in 28 fetuses (40.6%), and the most common aneuploidy was Turner syndrome (n=14, 20.3%); 16 (23.2%) of the remaining cases, in which aneuploidy was not found, had coexistent structural malformations; 25 (36.2%) cases had normal karyotype and morphology. The total number of live births and infants with unfavorable neurologic follow-up were 13 (18.8%) and 2 (2.9%), respectively. Septated CH is associated with poor perinatal outcomes; therefore, karyotype analysis and ultrasonographic anomaly screening should be performed as initial steps, and expectant management should be offered to couples with euploid fetuses that have normal morphology.

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“…The malformation occurs when the embryonic lymphatic sacs fail to connect with the venous system [4]. There are reports that suggest that large multilocular, septated cysts results from the complete obstruction of the lymphatic sacs, whereas a nonseptated cyst is the consequence of temporary accumulation due to incomplete obstruction of lymphatic drainage [5,6].…”

Section: Discussionmentioning

confidence: 99%

Fetal axillary lymphangioma diagnosed on a 2D/4D ultrasound second trimester scan – a case report and short literature review

et al. 2021

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Fetal lymphangioma, also known as cystic hygroma, is a hamartomatous congenital tumor which involves the fetal skin and the subcutaneous tissue. The most common site of appearance is in the neck region. Location of the lesion in the axilla as well as in other anathomical sites is very rare.Prenatal diagnosis can be made on ultrasound examination. Other structural or chromosomal anomalies are frequently associated with this diagnosis. The antepartum management and type of delivery should be set up by a multidisciplinary team.We present a rare case diagnosed with axillary lymphangioma during the second trimester morphological ultrasound 2D/4D scan.

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Familial nuchal cystic hygroma without fetal effects: Genetic counselling and further evidence for an autosomal recessive subtype

Cited by 13 publications

References 13 publications

Giant fetal lymphangioma at chest wall and prognosis: Case report and literature review

Giant fetal lymphangioma at chest wall and prognosis: Case report and literature review

Prenatal management, pregnancy and pediatric outcomes in fetuses with septated cystic hygroma

Fetal axillary lymphangioma diagnosed on a 2D/4D ultrasound second trimester scan – a case report and short literature review

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