Vascular disorders
Brice Antao, S Irish Michael, Anthony Lander, S Rothenberg MD Steven in Succeeding in Paediatric Surgery Examinations, 2017
1F, 2G, 3D, 4A, 5FInfantile haemangiomas generally have a proliferative phase from birth to 7 months of age followed by an involuted phase. During the proliferative phase, they may grow rapidly. There may be a plump reddened area overlying the lesion (strawberry haemangioma).Cutaneous haemangiomatosis involves multiple or disseminated infantile haemangiomas. It may represent a metastatic process and may be associated with or without cardiac sequelae.Capillary haemangiomas (port wine stain) consist of dilated capillaries and venules in the dermis. They are generally single with a pink stain over the skin.Lymphatic malformations (cystic hygroma) are localised distended lymphatic channels, which generally form a mass on the axilla, chest, face, neck, mediastinum, retroperitoneum, buttock or anogenital area.Venous malformations (cavernous haemangioma) are the most common congenital vascular anomaly. They are present at birth and present as soft, bluish compressible lesions. They generally involve the skin and subcutaneous tissue, but may involve the muscle.Arteriovenous malformations are generally present at birth and enlarge with puberty or trauma. There may be a mass beneath a cutaneous stain. The mass may be warm with a thrill or bruit and prominent veins. Ulceration, pain or bleeding may occur. A thrill or bruit may be present. High-flow lesions may present with congestive heart failure.Capillary–lymphatic–venous malformations (Klippel–Trénaunay’s syndrome) is associated with soft tissue or skeletal hypertrophy, abnormal lateral veins and limb swelling.
Prenatal diagnosis of cystic hygroma cases in a tertiary centre and retrospective analysis of pregnancy results
Published in Journal of Obstetrics and Gynaecology, 2022
Sureyya Saridas Demir, Erkan Cagliyan, Derya Öztürk, Samican Özmen, Sabahattin Altunyurt, Tufan Çankaya, Elcin Bora
The aim of this study is to retrospectively examine 29 pregnancies admitted to a tertiary centre and diagnosed with prenatal cystic hygroma. ‘Cystic hygroma’ is a malpharmacy of the lymphatic system, which is most commonly seen in the prenatal period and has increased detection rate since the routine implementation of foetal nuchal thickness measurement in the first trimester of pregnancy and is associated with congenital anomalies, aneuploidy (abnormal karyotypes) and developmental disorders (Noia et al. 2018; Almonacid et al. 2020). Due to its frequency, its relation with anomalies and various syndromes, it is of great importance for early antenatal diagnosis, determining the prognosis, planning the mode of delivery and postnatal management (Behera et al. 2020). When cystic hygroma is detected in early pregnancy, it is usually found with chromosomal or structural abnormalities, and in cases where pregnancy is not terminated, it results in 63% hydrops, intrauterine foetal death or spontaneous abortion. When the diagnosis is made close to the birth, there is a single lymphangioma and there is no other anomaly accompanying the disease, i.e. the disease progresses (Özcan et al. 2017; Tanay Tayyar et al. 2017; Erkayiran et al. 2018; Lore et al. 2018). The probability of a foetus with antenatally diagnosed cystic hygroma to be born as a healthy newborn at full term is 5% or less (Sahni et al. 2017; Tanay Tayyar et al. 2017). Cystic hygroma cases can be diagnosed in the intrauterine period by obstetric ultrasonography (Almonacid et al. 2020; Lodhia et al. 2020; Yener et al. 2020).
Early prenatal diagnosis of 49,XXXXY: two case reports
Published in Journal of Obstetrics and Gynaecology, 2019
Yue-Cheng Lu, Lv-Yin Huang, Yan-Dong Yang, Dong-Zhi Li
The prenatal 49,XXXXY syndrome has rarely been reported. Since the supernumerary X chromosomes are always maternal and result sporadically from a double non-disjunction during the two rounds of meiosis, not related to maternal age, the prenatal diagnosis is usually fortuitous. The most common ultrasound features associated with 49,XXXXY were the cystic hygroma and clubfoot (Peitsidis et al. 2009). Other prenatal findings include an abnormal appearance of the genitalia, cardiac defects, epignathus, hydrops foetalis, intrauterine growth retardation and polyhydramnios (Schluth et al. 2002; Chen et al. 2007; Staboulidou et al. 2008; Stover et al. 2017). Our second case had a cystic hygroma that was identified by a NT scan. Although it is non-specific, cystic hygroma has been well known to be a frequent and early indicator of the sex chromosomal aneuploidies (SCA), especially for the Turner syndrome. Our first case had an isolated perimembranous VSD. There is a study which found that in prenatal cases perimembranous VSDs were associated with a higher risk of chromosomal anomalies than muscular VSDs, which had a similar risk to those of normal pregnancies (Gómez et al. 2014). Nevertheless, because the other DNA diagnostic approach, e.g. chromosomal microarray, was not applied in the case with VSD, it could not determinate if microdeleltion syndrome such as 22q11.2 deletion was attributing to the cardiac defect.
Related Knowledge Centers
- Birth Defect
- Cyst
- Lymph
- Lymphatic Vessel
- Posterior Triangle of The Neck
- Lymphatic System
- Neck
- Lesion
- Posterior Triangle of The Neck
- Malignancy
- Disfigurement