70  Cystic Hygroma

331

SECTION TWO
Neck Anomalies

70  Cystic Hygroma

MAR BENNASAR | MARTA ARIGITA | LAURA SALAZAR | BIENVENIDO PUERTO

Introduction of Down syndrome.2 Other chromosomal abnormalities include

Cystic hygroma (CH) is a congenital lymphatic malformation.
It is the most frequently observed fetal neck pathology on prenatal
ultrasound (US).
Disease
DEFINITION
CH is an abnormality of the vascular lymphatic system, character-
ized by the development of distended fluid-filled spaces, typically
affecting the fetal neck (80% of cases). Based on the presence of
septations, it can be classified into septated or nonseptated CH.
PREVALENCE AND EPIDEMIOLOGY
The true incidence of CH is unknown. It has been reported to be
1 : 6000 at birth and 1 : 750 among spontaneous abortions.1 Data
from the FASTER (First and Second Trimester Evaluation of Risk)
trial showed an overall prevalence of CH at about 1 : 100, whereas
septated CH affects 1 : 285 fetuses in the first trimester.2
autosomal trisomies, Klinefelter syndrome, partial trisomies,
partial monosomies, translocations, and mosaicisms.7,8 Genomic
microarray analysis may lead to a decrease in the number of
undiagnosed genetics disorders when compared with conventional
karyotype. Microarrays enable higher resolution, with 22q11.2
microdeletion being one of the most frequently detected imbal-
ance overlooked by conventional karyotype.9 CH has been related
to inherited disorders and malformation syndromes in euploid
fetuses (Table 70.1), maternal infection, and drug intake including
alcohol, aminopterin, and trimethadione.10,11
CH is normally caused by aberrant development of lymphatic
vessels, as a consequence of an abnormal or absent connection
with the venous system, 10 leading to lymphatic stasis
and enlargement of the jugular sacs (Fig. 70.1). Progressive
obstruction may lead to thoracic, pericardial, and abdominal

ETIOLOGY AND PATHOPHYSIOLOGY

CH is frequently associated with other malformations, particularly
congenital heart defects (CHD) and chromosomal abnormalities
(75% of cases). Some studies suggest that septations predict an
increased likelihood of aneuploidies,3,4 but this notion has not
been confirmed by others.5,6 Turner syndrome is the most common
associated chromosomal abnormality, affecting approximately Fig. 70.1  Axial view of septated CH in second trimester. The nuchal
60% of cases. More recent studies suggest a higher prevalence ligament is identified.
332 PART 8  Head and Neck  •  SECTION TWO  Neck Anomalies

TABLE 70.1  GENETIC AND MALFORMATION A cesarean section may be required to avoid birth dystocia and
SYNDROMES ASSOCIATED WITH CYSTIC HYGROMA injury; ex utero intrapartum treatment may be helpful to prevent
neonatal asphyxia secondary to difficult airway access. CH rarely
Achondrogenesis type II regresses spontaneously after birth, and growth of the CH is
Achondroplasia generally proportional to the growth of the child. Spontaneous
Beckwith-Wiedemann syndrome
Brachmann-de Lange syndrome infection is present in one-third of cases.11
Campomelic dysplasia
Congenital adrenal hyperplasia Imaging Technique and Findings
Cowchock syndrome Ultrasound.  CH develops typically late in the first trimester
Cowden disease
Cumming syndrome
and is characterized by the presence of posterior or posterior-
de Lange syndrome lateral, fluid-filled cavities in the fetal neck. These cavities
Distichiasis-lymphedema syndrome are quite variable in size. Nuchal hygromas are frequently
Fanconi pancytopenia syndrome bilateral, separated by the nuchal ligament, resembling a
Fraser syndrome complex mass with one or more septa in the center. An
Fryns syndrome
Hereditary lymphedema axial view of the fetal neck is usually required to make the
Multiple pterygium syndrome diagnosis.
Noonan syndrome Oligohydramnios is present in about two-thirds of cases,
Oculodentodigital syndrome thought to be the consequence of hypovolemia and renal
Opitz-Frias syndrome
Pena-Shokeir syndrome
hypoperfusion. Amniotic fluid volume can also be increased,
Polysplenia syndrome especially in cases associated with hydrops fetalis.
Proteus syndrome CH is associated with other malformations in 60% of cases,
Roberts syndrome including cardiac defects, skeletal dysplasias, genitourinary system
Thrombocytopenia–absent radius abnormalities, congenital diaphragmatic hernia, and central
VACTERL association
Williams syndrome nervous system abnormalities.2
Zellweger syndrome Cystic Hygroma Versus Nuchal Translucency.  There is an
ongoing debate regarding the differentiation between increased
VACTERL, Vertebral, anal, cardiac, tracheal, esophageal, renal, and
limb anomalies.
nuchal translucency and CH in the first trimester. It is argued
that septations can be seen in all fetuses with increased nuchal
translucency, and CH should not constitute a distinct entity in
the first trimester.12
Magnetic Resonance Imaging.  In late pregnancy, magnetic
resonance imaging (MRI) can be useful in prenatal evaluation
of airway access and extension of the lymphatic abnormalities
to plan an adequate delivery and perinatal management.

Differential Diagnosis From

JS
JS
63cps 8cm
Fig. 70.2  Dilated jugular sacs (JS) in a case of resolved CH.
effusions. However, if an alternative route of lymphatic
flow is established, the distended lymphatic sacs collapse, and
the hygroma resolves either completely or showing distended
jugular lymph sacs on either side of the fetal neck (Fig. 70.2).
Imaging Findings
1. Occipital encephalocele and meningocele: The defect in the
calvaria and the absence of gyral pattern (encephalocele) are
clues for the diagnosis (Fig. 70.3).
2. Hemangioma: Normally irregularly shaped, low-level echoes,
and color Doppler showing vascularization can establish the
diagnosis.
3. Teratoma: Teratoma is usually located anteriorly, with hyper-
extension of the fetal neck and a solid or mixed-solid mass.
4. Goiter: A goiter appears as a bilobed mass in the anterior
region.
5. Other: Other, less common anomalies that may be included
in differential diagnosis of CH are metastases, sarcoma,
melanoma, brachial cleft cyst, thyroglossal duct cyst, laryn-
gocele, fibroma, and lipoma.

MANIFESTATIONS OF DISEASE
Clinical Presentation
The prenatal presentation and course of CH is variable. It can
resolve spontaneously or progressively affect other fetal structures
separate from the neck, such as the pleura, the pericardium, or
the abdomen, leading to hydrops fetalis in 75% of cases, which
frequently results in fetal demise.7 In fetuses progressing to term,
a large CH may complicate obstetric and perinatal management.
Synopsis of Treatment Options
PRENATAL
There are a few reports concerning intrauterine treatment of
CH in selected cases without chromosomal or structural abnor-
malities. Experimental intralesional injection of OK-432 solution
at a concentration of 1 KE/5 mL of saline and sclerotherapy
have been reported.13–15

A
Fig. 70.3  Calvarian bone defect (arrows) in two cases (A,B) of encephalocele as a clue for the differential
diagnosis between CH and encephalocele.
POSTNATAL
Surgical
Complete excision is the treatment of choice for CH, although
it is possible in only three out of four cases. The mortality rate
is extremely low, but recurrence, infection, wound seroma, and
nerve damage occur in 30% of cases. Recurrence rate varies
depending on the complexity of the lesion and the completeness
of excision.16
Nonsurgical
Nonsurgical therapies are used as a treatment for recurrent or
incompletely excised lesions. Injections of intralesional bleomycin
(0.3 to 3 mg/kg per session)17 and OK-43218 are the most effective
treatments. Complete regression occurs in 40% to 50% of cases.
WHAT THE REFERRING PHYSICIAN NEEDS TO KNOW
• If a CH is diagnosed prenatally, genomic microarray and a
detailed US, including fetal echocardiography, should be
offered. Turner syndrome is the most common disorder.
• The prognosis is uncertain, but overall mortality is high, and
there is a greater than 75% association with other defects or
progression to hydrops, or both.
• Size appears to be the most important determinant of
outcome, irrespective of whether there are internal
septations.19
70  Cystic Hygroma 333
B
KEY POINTS
• CH is the most frequently seen fetal neck mass on first-
trimester US.
• CH is characterized by fluid-filled posterior or posterior-lateral
cavities in the neck.
• Overall prognosis is poor, with a high association with
chromosomal and structural anomalies, and progression to
hydrops and fetal demise.
• Rare cases may resolve and show a good outcome.
SUGGESTED READINGS
Grande M, Jansen FAR, Blumenfeld J, et al. Genomic microarray in fetuses with
increased nuchal translucency and normal karyotype: a systematic review
and meta-analysis. Ultrasound Obstet Gynecol. 2015;46:650-658.
Malone FD, Ball RH, Nyberg DA, et al. FASTER Trial Research Consortium.
First-trimester septated cystic hygroma: prevalence, natural history, and
pediatric outcome. Obstet Gynecol. 2005;106:288-294.
Scholl J, Durfee SM, Russell MA, et al. First-trimester cystic hygroma: relationship
of nuchal translucency thickness and outcomes. Obstet Gynecol. 2012;120:551-9.
All references are available online at
www.expertconsult.com.

REFERENCES
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associated with hydrops fetalis, oligohydramnios or intrauterine fetal death:
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hygroma paracentesis. Acta Obstet Gynecol Scand. 1996;75:454-458.
2. Malone FD, Ball RH, Nyberg DA, et al. FASTER Trial Research Consortium.
First-trimester septated cystic hygroma: prevalence, natural history, and
pediatric outcome. Obstet Gynecol. 2005;106:288-294.
3. Bronshtein M, Rottem S, Yoffe N, et al. First-trimester and early second-
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70  Cystic Hygroma 333.e1
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review and metaanalysis. Ultrasound Obstet Gynecol. 2015;46:650-658.
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relationship of nuchal translucency thickness and outcomes. Obstet Gynecol.
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