Lymphangioma of the fetal neck within the PIK3CA‐related‐overgrowth spectrum (PROS): A case report

Scharf, Jann Lennard; Gembicki, M; Dracopoulos, Christoph; Hellenbroich, Yorck; Offermann, Anne; Stichtenoth, Guido; Tafazzoli-Lari, Kianusch; Tharun, Lars; Weichert, J.

doi:10.1002/ccr3.4527

Clinical Case Reports

2021

DOI: 10.1002/ccr3.4527

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Lymphangioma of the fetal neck within the PIK3CA‐related‐overgrowth spectrum (PROS): A case report

Jann Lennard Scharf

M Gembicki

Christoph Dracopoulos

et al.

Abstract: This is an open access article under the terms of the Creat ive Commo ns Attri butio n-NonCo mmerc ial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

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References 26 publications

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Fetal Cystic Lymphatic Malformations

Nzelu,

Panayotidis,

Smith

et al. 2024

J of Ultrasound Medicine

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ObjectiveEvaluate pregnancy and neonatal outcomes with fetal cystic lymphatic malformations (LMs), excluding those arising from the posterior neck, to facilitate patient counseling.MethodA systematic review was performed in accordance with PRISMA guidance. Case series and case reports published between 2000 and 2022 were included.ResultsSixty‐five studies (96 fetuses) met the inclusion criteria. The average gestational age at diagnosis was 25.5 weeks with the commonest location being the anterior neck (28%). All patients were diagnosed with LM using two‐dimensional (2D) ultrasound. Prenatal progression in LM size, presence of intralesional bleeding, or fetal hydrops occurred in 70% (41/59), 9% (5/59), and 3% (2/59), respectively. Chromosomal and structural abnormalities were reported in 4% (2/52) and 2% (2/96), respectively. Overall livebirth rate was 94% (79/84); 12/96 resulted in termination and 5/84 in in utero demise.The average gestational age of delivery was 37.7 weeks. Exactly 19% (15/79) had a vaginal birth, of which shoulder dystocia occurred in one infant. Ex utero intrapartum treatment (EXIT) procedure was performed in 13% (10/79). Postnatal treatment commonly involved surgical excision 38% (30/79), sclerotherapy in 21.5% (17/79), or combination of both in 11.4% (9/79). Of those with reported follow‐up, 4 died within 1 year, 1 developed heart failure at 2 years of life, and the remaining 44 had normal developmental outcomes.ConclusionFetal cystic LMs, excluding those in the posterior neck, are not commonly associated with chromosomal, or additional structural abnormalities. They usually increase in size before delivery with only a minority developing complications. The good developmental outcome was reported in all survivors.

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Fetal Cystic Lymphatic Malformations

Nzelu,

Panayotidis,

Smith

et al. 2024

J of Ultrasound Medicine

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Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth

Wenger¹,

Ganti²,

Bull³

et al. 2022

Genetics in Medicine

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Lymphangioma of the fetal neck within the PIK3CA‐related‐overgrowth spectrum (PROS): A case report

Abstract: This is an open access article under the terms of the Creat ive Commo ns Attri butio n-NonCo mmerc ial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

Cited by 2 publications

References 26 publications

Fetal Cystic Lymphatic Malformations

Fetal Cystic Lymphatic Malformations

Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth

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