Imaging evaluation of fetal vascular anomalies

Abstract

Vascular anomalies can be detected in utero and should be considered in the setting of solid, mixed or cystic lesions in the fetus. Evaluation of the gray-scale and color Doppler US and MRI characteristics can guide diagnosis. We present a case-based pictorial essay to illustrate the prenatal imaging characteristics in 11 pregnancies with vascular malformations (5 lymphatic malformations, 2 Klippel-Trenaunay syndrome, 1 venous-lymphatic malformation, 1 Parkes-Weber syndrome) and vascular tumors (1 congenital hemangioma, 1 kaposiform hemangioendothelioma). Concordance between prenatal and postnatal diagnoses is analyzed, with further discussion regarding potential pitfalls in identification.

Klippel-Trenaunay syndrome: case report and literature review

“…Clinical features of KTS within right lower extremity in our patient: limb hypertrophy, port wine stain, phlebolymphedema, large varicose veins and skin lesions secondary to venous and lymphatic insufficiency; A -front view; B -side view; C -back viewA B C DiscussionKTS in the literature is known by various names, including angioosteohypertrophy syndrome or capillary-lymphaticovenous malformation[3,10,11]. The first case was reported in 1900 by Maurice Klippel and Paul Trenaunay[12]…”

“…The aetiology of the syndrome remains unknown and many theories have been proposed. It is generally accepted that KTS is a congenital disorder, in which blood and lymph vessels do not properly form during intrauterine development [11,[14][15][16]. KTS is postulated to be the result of sporadic mutations, including chromosomal translocations such as: t(5;11) (q13.3;p15.1) [17,18] or t(8;14)(q22.3;q13) [19], supernumerary ringed chromosome 18 [20], mutations in the PIK3CA gene [21], and somatic mutations in RASA 1 gene [22][23][24].…”

“…PWS is distinguishable from KTS primarily by the presence of one or more hemodynamically significant arteriovenous fistulas. Due to the presence of the high-flow arterio-venous fistula, the treatment and prognosis of PWS vary greatly in comparison to KTS and these two entities should by considered as different diseases [2,6,11,15,31,33,36,46]. Patients with KTS may have arteriovenous fistulas but the shunts are usually not clinically important [11,15].…”

Fetal brain, head, and neck tumors: Prenatal imaging and management

“…Fetal MRI is usually performed for further evaluation of a facial or cervical mass detected on routine obstetric US. The suggested MRI protocol for imaging of the fetal face and neck includes the following sequences 11,59 : (a) Half‐Fourier acquisition single‐shot turbo (HASTE), which provides heavily T2 weighted imaging with low susceptibility within a very short time. It is excellent for visualization of normal anatomical structures and depiction of lesion morphology; (b) Spoiled gradient echo T1‐weighted sequence for imaging of the thyroid gland and major cervical vessels as well as for depiction of intralesional blood products; (c) Gradient echo planar imaging for the detection of blood products, calcification, and bony details; (d) Dynamic steady state or balanced gradient echo sequences, which are valuable for assessment of the swallowing function of the fetus (Figure 9).…”

Interferon-alpha therapy for refractory kaposiform hemangioendothelioma: a single-center experience

“…Histologically, KHE is composed of solid nodules that are a mixture of spindle-shaped endothelial cells and small capillary vessels. The typical magnetic resonance imaging (MRI) presentation of KHE is homogeneous hyperintense in T2-weighted sequences and isointense in T1-weighted sequences4. Numerous studies have revealed an exclusive relationship between KHE and Kasabach-Merritt Phenomenon (KMP), which is characterized by consumptive coagulopathy and thrombocytopenia with enlarging vascular tumors, including KHE and tufted angioma (TA)5.…”