Cystic hygroma and the importance in its prenatal diagnosis

Abstract

Introduction: Cystic hygroma is a congenital malformation of the lymphatic system that presents as single cavities filled with fluid, more frequently at the cervical level and can be associated with genetic syndromes and malformations. Objective: To carry out a systematic review through the study of cystic hygroma and its importance in its prenatal diagnosis. Methodology: A qualitative systematic review of the studies focused on cystic hygroma was carried out. Literature search techniques included search engines such as Medline (Pubmed), Scielo, Elseiver. A total of 20 items are included. Results: Cystic hygromas are endothelial cell-covered cysts that arise from lymphatic malformations. Many of them affect the cervical lymph nodes and occur in the neck region. Other preferred locations are the axilla, mediastinum, groin, and retroperitoneal area, where these cystic lesions are present at birth. Conclusions: The importance of prenatal diagnosis methods are fundamental to know the potential problems that the R.N. after his birth.

Full text

Sapienza: International Journal of Interdisciplinary Studies, 4(SI1), e23041 | 1
Cystic hygroma and the importance in its prenatal diagnosis
Higroma cístico e a importância no seu diagnóstico pré-natal
Higroma quístico y la importancia en su diagnóstico prenatal
Arévalo Suárez Yuli Alexandra
https://orcid.org/0000-0002-6423-4709
Professor at Technical University of Ambato, Ecuador.
Master's in care management mention in emergency
units and intensive care units
ya.arevalo@uta.edu.ec
ABSTRACT
Introduction: Cystic hygroma is a congenital malformation of the lymphatic system that presents as
single cavities filled with fluid, more frequently at the cervical level and can be associated with genetic
syndromes and malformations. Objective: To carry out a systematic review through the study of cystic
hygroma and its importance in its prenatal diagnosis. Methodology: A qualitative systematic review of
the studies focused on cystic hygroma was carried out. Literature search techniques included search
engines such as Medline (Pubmed), Scielo, Elseiver. A total of 20 items are included. Results: Cystic
hygromas are endothelial cell-covered cysts that arise from lymphatic malformations. Many of them
affect the cervical lymph nodes and occur in the neck region. Other preferred locations are the axilla,
mediastinum, groin, and retroperitoneal area, where these cystic lesions are present at birth.
Conclusions: The importance of prenatal diagnosis methods are fundamental to know the potential
problems that the R.N. after his birth.
Keywords: Hygroma; prenatal; diagnosis; newborn.
RESUMO
Introdução: O higroma cístico é uma malformação congênita do sistema linfático que se apresenta
como cavidades únicas preenchidas por líquido, mais frequentemente ao nível cervical e pode estar
associada a síndromes e malformações genéticas. Objetivo: Realizar uma revisão sistemática através do
estudo do higroma cístico e sua importância no diagnóstico pré-natal. Metodologia: Foi realizada uma
revisão sistemática qualitativa de estudos focados em higroma cístico. As técnicas de busca de literatura
incluíram mecanismos de busca como Medline (Pubmed), Scielo, Elseiver. Um total de 20 itens estão
incluídos. Resultados: Os higromas císticos são cistos recobertos por células endoteliais que surgem de
malformações linfáticas. Muitos deles afetam os gânglios linfáticos cervicais e ocorrem na região do
pescoço. Outros locais preferidos são a axila, mediastino, virilha e área retroperitoneal, onde essas
lesões císticas estão presentes ao nascimento. Conclusões: A importância dos métodos de diagnóstico
pré-natal são fundamentais para conhecer os potenciais problemas que o R.N. depois de seu
nascimento.
Palavras-chave: Pediátrico, leucemia, cuidador, enfermagem.
RESUMEN
Introducción: El higroma quístico es una malformación congénita del sistema linfático que se presenta
como cavidades únicas llenas de líquido, más frecuentemente a nivel cervical y puede asociarse a
síndromes genéticos y malformaciones. Objetivo: Realizar una revisión sistemática a través del estudio
del higroma quístico y su importancia en su diagnóstico prenatal. Metodología: Se realizó una revisión
sistemática cualitativa de los estudios centrados en el higroma quístico. Las técnicas de búsqueda de
literatura incluyeron motores de búsqueda como Medline (Pubmed), Scielo, Elseiver. Se incluyen un total
de 20 artículos. Resultados: Los higromas quísticos son quistes cubiertos de células endoteliales que
surgen de malformaciones linfáticas. Muchos de ellos afectan los ganglios linfáticos cervicales y ocurren
en la región del cuello. Otras ubicaciones preferidas son la axila, el mediastino, la ingle y el área
retroperitoneal, donde estas lesiones quísticas están presentes al nacer. Conclusiones: La importancia
de los métodos de diagnóstico prenatal son fundamentales para conocer los problemas potenciales que
el R.N. después de su nacimiento.
Palabras clave: Higroma; prenatal; diagnóstico; recién nacido.
Espinosa Benítez Quenia Lorena
https://orcid.org/0000-0002-9565-3009
Professor at Technical University of Ambato, Ecuador.
Master in health management for local development
ql.espinosa@uta.edu.ec
Masabanda Poaquiza Patricia Elisabeth
https://orcid.org/0000-0001-5624-1450
Professor at Technical University of Ambato, Ecuador.
Master's Degree in Surgical Nursing
pe.masabanda@uta.edu.ec
Rodríguez Gamboa Mery Susana
https://orcid.org/0000-0003-3444-2934
Professor at Technical University of Ambato, Ecuador.
Master's degree in surgical nursing
ms.rodriguez@uta.edu.ec
Venegas Mera Beatriz
https://orcid.org/0000-0002-1270-7113
Professor at Technical University of Ambato, Ecuador.
Master's degree in surgical nursing
ve.venegas@uta.edu.ec
ARTICLE HISTORY
Sapienza: International Journal of Interdisciplinary Studies | V. 4 | N. SI1 | 2023 | e-ISSN: 2675-9780
Publisher: Sapienza Grupo Editorial
R. Santa Cruz, 2187, Vila Mariana
São Paulo, Brazil
editor@sapienzaeditorial.com
https://doi.org/10.51798/sijis.v4iSI1.688
Received: 10-05-2023
Revised Version: 19-07-2023
Accepted: 24-07-2023
Published: 30-07-2023
Copyright: © 2023 by the authors
License: CC BY-NC-ND 4.0
Manuscript type: Article
ARTICLE INFORMATIONS
Science-Metrix Classification (Domain):
Health Sciences
Main topic:
Cystic hygroma
Main practical implications:
It provides important insights to better
understand the problem, diagnosis and
treatment of cystic hygroma in newborns.
Originality/value:
It presents an exhaustive review of the literature
to guide new studies on the problem addressed.

Sapienza: International Journal of Interdisciplinary Studies, 4(1), e23001 | 2
Cystic hygroma and the importance in its prenatal diagnosis
INTRODUCTION
"Cystic hygroma is known as a congenital malformation of the lymphatic system that presents as single or
multiloculated cavities filled with fluid, most frequently at the cervical level and can be associated with genetic syndromes
and chromosomal abnormalities" (Mukakala AK. et al. 2020 .p.).
Within a historical context, Hygroma is derived from the Greek as a water-containing tumour, which are congenital
malformations of the lymphatic system. In this sense, cystic hygroma is more frequent than other types of lymphangioma,
and can be formed by single or multiple macrocystic lesions with little communication with normal lymphatic channels
(Barrientos S. et al. 2017. p .).
According to Mukakala A. et al. (2020) p. says: Thus, a cystic hygroma is a fluid-filled sac (cyst) that forms, in most
cases, in the baby's neck due to a malformation or obstruction of the lymphatic system. The lymphatic system is a collection
of tissues and organs that move lymph fluid (a watery fluid filled with white blood cells) through the bloodstream and
circulatory system to remove waste and toxins.
Additionally, cystic hygromas can manifest anywhere on the body. Common locations are the cervicofacial regions
(especially the posterior cervical triangle), the axilla, the mediastinum, the groin, and under the tongue. Likewise, these
malformations can occur in the liver, spleen, kidney and intestine. The omental cyst in the omentum and the mesenteric cyst
in the mesentery of the intestine represent parallel lesions in these locations (Taqua R. et al. 2018. p .).
Cystic hygromas are rare, accounting for 6% of all benign lesions in infancy and early childhood; however, they are
the subtype of lymphangioma that can cause serious lesions and, if not detected in time, contribute to malformations and
conditions in the newborn (Pan M. et al. 2020. p .).
Thus, 50% of these lesions are present from birth, and the remaining 50% appear before 2 years of age. However, it
has been verified that up to 90% of cases are diagnosed in infants under 2 years of age, and most are diagnosed between 3
and 5 years of age. Likewise, of all cystic hygroma lesions, between 75 and 90% are cervical, 20% are axillary, and the rest are
inguinal, retroperitoneal, and thoracic (Torres G. et al. 2014. p .).
As explained in relevant literature, in approximately 80% of cases, the location of cystic hygromas is the cervicofacial
region. Therefore, cystic hygroma should always be considered first in the preliminary differential diagnosis of cystic lesions
with onset at birth, in the mentioned location. More than 60% of cystic hygromas appear at birth and up to 90% manifest
before two years of age (Huamán M. et al. 2018. p .).
“Under this background, prenatal diagnosis of cystic hygromas is usually obtained in the first trimester or early in the
second and is not particularly difficult and is reliably performed by transabdominal ultrasound” (Yakıştıran B. et al. 2020. p.) .
According to Torres G. et al. (2014). p. However, the sonographic features of fetal cystic hygroma are much more
subtle in the first trimester, as first trimester hygromas differ in that the degree of cystic changes is not as well established,
septations are less likely to be seen, and the early signs of its development are most likely to be recognized as a simple raised
membrane-like thickening clearly separated from the posterior angles of the fetal cervixes, in light of which the first trimester
hygroma can be well established by transvaginal ultrasonography
According to Barrientos S. et al. (2017). p.:Now single or multiple cysts found in the occipitocervical region and due to
the presence of multiple septa have a typical honeycomb appearance. Cystic hygromas are associated with an increased risk
(59-73%) of fetal chromosomal abnormalities. In addition, in the second trimester, cystic hygromas often progress to dropsy
and in the worst case cause fetal death. Thus, the prognosis for fetuses with cystic hygroma, especially in the presence of
hydrops, is poor.
On clinical examination, these lesions appear soft, compressible, nontender, transluminant, and without a bruit.
Ultrasonography of the lesion usually shows a multicystic lesion with internal septations and no blood flow is detected on
color Doppler ultrasound (Romero D. Atobe O. 2016. p.).
After Utomo M. Harahap A, Etika R. (2021). p.. CT shows a multicystic, homogeneous, non-invasive density with low
attenuation. These modalities are often helpful in determining the extent of the lesion and its association with nerves and
vessels, and are particularly helpful when contemplating surgical management of the lesion. These cysts may produce a milky,
serous, sero-bloody, or straw-colored fluid when aspirated with a large-gauge needle.
Cystic hygromas can show up during pregnancy on an ultrasound or after the baby is born as a lump or bump under
the skin. If the hygroma appears during pregnancy, there is a risk of abortion or that the baby is stillborn (Torres G. et al.
2014. p .).
Various imaging modalities such as ultrasound, computed tomography, or magnetic resonance imaging are used to

Sapienza: International Journal of Interdisciplinary Studies, 4(1), e23001 | 3
Cystic hygroma and the importance in its prenatal diagnosis
confirm the diagnosis. Ultrasound is the least invasive of all and usually shows multicystic lesions with internal septations. CT
and MRI can be useful to further delineate the lesion and to plan surgery, as they help to illustrate the involvement and
proximity to neighboring structures ( Joyful P. Toko M. Cary N. 2020. p .).
The prognosis of a patient with a cystic hygroma will largely depend on the anatomic site and whether or not the
patient develops secondary complications. Cystic hygromas diagnosed prenatally often have a poorer prognosis than those
diagnosed after birth. Surgical excision is usually successful with complete resolution as long as the mass is completely
excised; however, the surgical excision rate can be as high as 53% in some cases, which can be improved by the use of
adjuvants, such as sclerosing agents (Neira J. Coronel J. Paredes D. 2020. p .).
The nursing staff is also a vital member of the interprofessional team, as they will monitor the patient's vital signs and
assist in patient and family education. In the postoperative period for pain and wound infection, the pharmacist will ensure
that the patient receives appropriate analgesics, antiemetics, and antibiotics (Utomo M. Harahap A, Etika R. 2021. p.).
To avoid negative consequences associated with this condition, they must be promptly diagnosed and treated. This
activity describes the evaluation and treatment of cystic hygromas and highlights the role of the interprofessional team in the
evaluation and treatment of patients with this condition. Thus, the objective of this article is to review the available evidence
on cystic hygroma, especially with regard to its importance in prenatal diagnosis, as well as current recommendations for its
evaluation, case studies, and theoretical foundations.
METHODS
In order to comply with the objective of the research, an exhaustive search for information has been carried out to
carry out a systematic analysis based on scientific and bibliographic evidence from various sources of scientific and high-
impact journals, as well as national and international publications and works. related to cystic hygroma and its importance in
prenatal diagnosis.
Data collection
Within the data collection techniques, use was made of search engines of interest such as Scielo, Elseiver, Pubmed,
which offer a wide and extensive classification of valid and highly effective information so that the bibliographic source is
reliable. and contribution to the study and the objective of the research, with real data and an adequate theoretical
foundation.
Information selection
In order for the information collected to be selected appropriately, the research group has designed certain selection
and exclusion criteria for the analysis of the articles. Within the study, the inclusion criteria accepted all original bibliographic
documents with free access and full text for download and reading. In addition, versions in Spanish, English and Portuguese
were used. In addition, papers were accepted only with a period of time 2018-2022, that addressed a research topic or that
were related to cystic hygroma. However, the exclusion criteria were those articles that deviated from the purpose of the
study, were not relevant, had little information, or did not support its analysis. Likewise, studies that were not marked within
the specific time (2018-2022), paid access articles, similar articles, plagiarism, etc. were rejected.
Literature search technique
In order to investigate and organize the bibliographic search and avoid ambiguous results, search techniques based
on key terms and Boolean operators (AND, OR, NOT) were used. The search terms were used in different search engines
were. "Cystic Hygroma" "Prenatal Diagnosis" "Importance" in which other relevant articles were identified in the bibliography
as shown in the table below, the keywords used for the search.
Table 1. Literature search strategies
Use of key terms
(Cystic Hygroma) AND (Prenatal Diagnosis) OR (Importance)
Language
Spanish, English, Portuguese
Using Boolean Operators
AND, OR, NOT
Publications of the last 5 years
2018-2022
Source: own elaboration (2023)
Information management
Similarly, searches were made with modified variables that were related to the original study variables.

Sapienza: International Journal of Interdisciplinary Studies, 4(1), e23001 | 4
Cystic hygroma and the importance in its prenatal diagnosis
Table 2. Original variables and modifications made
Original variables
Variables with contradiction, implication or modification
Cystic hygroma
Definition
Importance
Problematic
Prenatal diagnosis
Diagnosis
Treatment
complications
Importance
Source: own elaboration (2023)
As the articles were selected, they underwent an elimination process according to the inclusion and exclusion criteria
described. Once those documents were eliminated, a descriptive table of abstracts of the articles was recorded for review in
order to include or exclude them according to the aforementioned criteria. The flowchart below shows the study selection.
Figure 1. Selection of Studies
Source: own elaboration (2023)
Selected articles N= 76
First exclusion
-Duplicated (21)
-No relevance (9)
Second exclusion
Articles that were not
free text (8) Non-
original articles (13)
Articles after application of inclusion and exclusion criteria.
N= 25
Scielo (35)
Elseiver (22)
Pubmed (19)
Second check (25)
First check (46)

Sapienza: International Journal of Interdisciplinary Studies, 4(1), e23001 | 5
Cystic hygroma and the importance in its prenatal diagnosis
RESULTS
Table 3. Main synthesis of results
N°
Title of the article, author,
year of publication
Participants
Study design
Results
Authors' interpretation
Categories
1
“Fetal cystic hygroma”
Alegre P. Toko M. Cary N.
(2020). p .
1 patient
Case study
The case study of a patient with cystic
hygroma with facial changes and neck
augmentation under deep anesthesia is
analyzed.
Prenatal surveillance is important for early
diagnosis through serial ultrasound, genetic
testing, and fetal echocardiography, and for the
formation of multidisciplinary teams for surgical
treatment.
Cystic hygroma Prenatal
diagnosis
2
"Cystic r etronuchal hygroma as
a marker of chromosomal
abnormalities in the first
trimester of pregnancy"
Huamán M. et al. (2018). p .
459 fetuses with
retronuchal cystic
hygroma
Retrospective
study
A total of 459 invasive procedures were
analyzed, which were p erformed in
fetuses with high risk of chromosomal
malformations, 162 chromosomal
abnormalities and 104 cases of
hyperplasia related to cystic hygroma
were detected.
Cystic hygroma is considered as an indicator of
high predictive risk for chromosomal
abnormalities. Identification through prenatal
screening can be an indicator for the
recommendation of diagnostic tests.
Cystic hygroma Prenatal
diagnosis
3
“Cystic hygroma o f the neck.
case repor t” Neira J. Coronel J.
Paredes D. (2020). p .
1 patient
Case study
The case presented here is the clinical
presentation of a 50-year-old man with
a tumor mass in the left region of the
neck that h ad developed a year earlier,
without any previous trauma, causing
dyspnea due to its size and pressure on
the airway. and other nearby structures.
Its diagnosis and surgical management was
correct, despite its large size and the time of
evolution.
Cystic hygroma Prenatal
diagnosis
4
“Cervical cystic hygroma versus
submandibular gland.
Presentation of surgical case”
(Espino S. et al. 2019. p .).
1 patient
Case study
The case of a three-year-old girl is
exposed, presenting a cystic hygroma
in the left cervical region, the same one
that generated atrophy of the
submandibular gland on that side,
which received surgical treatment.
Depending on the location and structure,
treatment can range from palliative treatment
with sclerosing drugs to reducing the size of
the tumor in order to perform surgery if
possible, and in some cases surgery is the first
option.
Cystic hygroma Prenatal
diagnosis
5
“Cystic hygroma in a newborn
of a woman with systemic lupus
erythematosus” Solís C. et al
(2018). p .
1 patient
Case study
The case analysis of a newborn with
cystic hygroma who is the son of a 33-
year-old patient with systemic lupus
erythematosus is studied.
With a gynecological history, she had a
previous gynecological pregnancy and an
abortion at week 14 of gestation, which led her
to start a fertility program with a
rheumatologist and a gynecologist.
Cystic hygroma Prenatal
diagnosis
6
Presentación de un caso:
síndrome de Claude Bernard-
Horner post resección de
higroma quístico
1 patient
Case study
Cystic hygromas are congenital
malformations formed by one or
several fluid-filled nodes that are
usually recognized in the newborn, but
only become visible when the patient
grows.
Although cystic hygroma is a lymphatic
malformation, surgical removal of the lymphatic
malformation can cause Claude Bernard Horner
syndrome in both infants and adults, so this
treatment is now considered advisable.
Cystic hygroma Prenatal
diagnosis
7
Cystic hygroma and the
importance of the prenatal
diagnosis: about a case
Almonacid I. et al (2020). p .
1 patient
Case study
The diagnosis of cystic hygroma. As
there was no karyotype analysis, it was
not possible to establish the pre-
existence of any genetic abnormality.
Also known as cystic lymphangioma, it
is a benign vascular tumor whose
prenatal diagnosis by ultrasound is
essential in the evolution and prognosis
of the disease.
The lack of prenatal check-ups and the absence
of ultrasonographic studies that would allow us
to know the characteristics o f this
lymphangioma could significantly affect the
fatal outcome. It is a benign vascular tumor
whose prenatal diagnosis by ultrasound is
fundamental in the evolution and prognosis of
the disease.
Cystic hygroma Prenatal
diagnosis
8
“Prenatal diagnosis in Cornelia
de Lange Syndrome regarding
2 cases” Taqua R. et al. (2018). p
..
2 pregnant patients
Case study,
correlational
Prenatal diagnosis of the syndrome is
limited to detection o f major
abnormalities, since the characteristic
phenotype is not easily recognized.
Intrauterine growth retardation, uterine
retroversion, upper extremity abnormalities of
varying severity, and other cardiovascular,
gastrointestinal, and urologic abnormalities that
affect fetal prognosis often occur.
Cystic hygroma Prenatal
diagnosis
9
Prenatal ultrasound diagnosis
and neonatal outcomes of
pulmonary cystic adenomatoid
malformation
17 prenatal cases
Retrospective
study
Computed tomography is the
technique of choice to confirm the
resolution of lesions after birth.
The fetus with cystic hygroma may be
associated with other anomalies such as Turner
syndrome, Down syndrome, trisomy 18, trisomy
13, Noonan syndrome,
Cystic hygroma Prenatal
diagnosis
10
Prenatal diagnosis of congenital
malformations and
chromosomal alterations: result
of the CIMAF experience -
Hospital Dr. Sótero Del Río
404 patients with
suspected congenital
malformations
Retrospective
and
descriptive
study
The most frequent malformations were
cardiovascular, central nervous system,
hydrops, extremities, abdomen and
genitourinary
Biopsy correlation is sometimes necessary for
accurate diagnosis of lesion occurring in
unusual locations.
Cystic hygroma Prenatal
diagnosis
11
Birth defects diagnosed by two-
dimensional ultrasonography
967 pregnant women
with a confirmed
diagnosis of birth
defects
Descriptive
study
The most frequent results by
ultrasound were alterations of the
central nervous system, genitourinary
and cardiovascular systems.
In most large series of prenatally diagnosed
second-trimester fetuses, this still accounts for
more than 50% of chromosomal abnormalities.
Cystic hygroma Prenatal
diagnosis
12
Prognosis of fetal nuchal
translucency ≥ 5.5 mm in Lima,
Peru
10,340 consecutive
fetuses between 11
and 13 weeks
Observational
retrospective
study
The frequency of a chromosomal
abnormality approaches 50%.
Classification based on ultrasound appearance
is artificial and does not represent distinct
abnormalities, but rather is a continuum of the
lymphatic obstruction sequence
Cystic hygroma Prenatal
diagnosis
13
Obstetric complications related
to antiretroviral therapy in HIV-
infected pregnant women
141 HIV-infected
pregnant women
retrospective
study
They were not related to plasma viral
load and no increase in the rate of
gestational interruptions,
malformations or gestational diabetes
was found.
If a hygroma is identified in the first trimester,
the following treatment is suggested.
Cystic hygroma Prenatal
diagnosis
14
Prevalence of fetal congenital
malformations detected by
ultrasound
58 pregnant patients
Observational,
descriptive,
retrospective
study
Cardiac malformations were the most
frequent, followed by those of the
central nervous system and abdomen.
If the hygromas resolve before 20 weeks, it can
be said that these babies will probably be
morphologically normal.
Cystic hygroma Prenatal
diagnosis
15
Prevalence of congenital
malformations in children of
mothers older than 34 years
and adolescents
15636 births
Retrospective
study
An increased r isk of fetal chromosomal
abnormalities in cases of fetal cystic
hygroma detected in the first trimester
Increased frequency of autosomal
abnormalities in the first trimester may lead to
increased first-trimester miscarriages
Cystic hygroma Prenatal
diagnosis
16
Cystic Lymphangioma Revision
1 patient
Case study
Ultrasound is the test of first choice in
pediatric diagnosis due to its safety and
provides important information in the
study of cystic hygroma.
If cystic hygromas are not adequately detected,
complications can arise.
Cystic hygroma Prenatal
diagnosis
17
Imaging diagnosis of occipital
encephalocele. About a case.
1 patient
Case study
During the course of the infection, the
cystic hygroma enlarges and becomes
hot, red, and tender.
The infection can affect the entire cystic
hygroma or some of its cysts.
Cystic hygroma Prenatal
diagnosis
18
Cystic lymphangioma. Case
report in Guyana
1 patient
Case study
Prenatal ultrasound performed in the
first and second trimester o f pregnancy
by trained personnel is an economical
and non-invasive diagnosis that allows
early diagnosis and appropriate
conduct.
Sometimes the cystic hygroma develops into an
abscess, which must be drain ed to improve
symptoms.
Cystic hygroma Prenatal
diagnosis
19
Inguinal cystic lymphangioma
in a patient
1 patient
Case study
Cystic lymphangioma, being a rare
pathology, its diagnosis must be
suspected.
Spontaneous rupture, on the fourth day after
birth, of a giant cystic hygroma of the neck,
which required urgent surgical intervention.
Cystic hygroma Prenatal
diagnosis
20
Morbidly adherent placenta
associated with congenital
malformations: case report.
1 pregnant patient
Case study
Trisomy 13 is a genetic condition that,
due to the multiple associated
malformations, is considered
incompatible with life.
Other complications are respiratory difficulties
and dysphagia, especially in cystic hygroma of
the neck and oral cavity.
Cystic hygroma Prenatal
diagnosis

Sapienza: International Journal of Interdisciplinary Studies, 4(SI1), e23041 | 6
Cystic hygroma and the importance in its prenatal diagnosis
Source: own elaboration (2023)
DISCUSSION
As has been studied in the medical literature, cystic hygromas can manifest in any part of the body. Inside the study
of Alegre P. Toko M. Cary N. (2020). p., the usual locations are the cervicofacial regions (especially the posterior cervical
triangle), the axilla, the mediastinum, the groin, and under the tongue.
In addition Huamán M. et al (2018). p., “details that occasionally, these malformations occur in the liver, spleen,
kidney and intestine”.
However, other infrequent locations have been observed within the study by Neira J. Coronel J. Paredes D. (2020). p.,
especially on the extremities, chest wall, cheek, lumbar region, suprasternal area, and over the shoulder or deltoid. The
authors describe that, although they are usually isolated and unique on these rare occasions, cystic hygromas have been
observed at multiple locations on the body.
Under these arguments, it suggests that cystic hygroma should always be considered first in the preliminary
differential diagnosis of cystic lesions starting at birth and in the mentioned location. Argument accepted by Espino S. et al.
(2019). p., who in his study mentions "that more than 60% of cystic hygromas appear at birth and up to 90% manifest before
two years of age."
However, the appearance of cystic hygroma in adults has hardly been described in the literature. Some case reports
describe the post-traumatic (acquired cystic hygroma) occurrence of cystic hygroma in previously normal adults. These cases
could represent the latent variety of cystic hygromas that can appear at any age, and trauma could be a chance event in such
cases.
"Now, within the diagnosis, in the clinical examination, these lesions appear soft, compressible, non-sensitive,
transluminous and without any murmur" Solís C. et al (2018). p. On the other hand, Barrientos S. et al. (2017). p ., details “that
an ultrasound of the lesion usually shows a multicystic lesion with internal septations and no blood flow is detected on color
Doppler ultrasound”.
Likewise Noia G. et al (2013). p. ensures that other modalities such as CT (Computerized Tomography) and MRI
(Magnetic Resonance Imaging) can be used to better delineate the lesion. The difference is that CT shows a multicystic,
homogeneous, non-invasive density with low attenuation.
In other words, these modalities are often useful in determining the extent of the lesion and its association with
nerves and vessels, and are particularly useful when contemplating surgical management of the lesion. These cysts may
produce a milky, serous, serosanguineous, or straw-colored fluid when aspirated with a large-gauge needle.
However, prenatal diagnosis of cystic hygroma by ultrasound is well documented in the literature and has been the
most widely used in different studies. According to Taqua R. et al. (2018). p., the characteristic sonographic appearance on
prenatal ultrasound is that of a thin-walled multiseptate cystic mass; occasionally, the cystic mass may have a more complex
echo texture with both cystic and solid components.
In addition Gallardo A. et al (2018). p., mentions that the fetus with cystic hygroma may be associated with other
anomalies in approximately 62% of cases. Associated anomalies are Turner syndrome, Down syndrome, trisomy 18, trisomy
13, Noonan syndrome, etc.
Under the research line of Vargas P. et al (2020). p., "biopsy correlation is sometimes necessary for accurate diagnosis
of lesion that occurs in unusual locations such as laryngeal, intraoral, and orbital lymphangiomas."
Prenatal diagnosis of cystic hygromas is a difficult counseling task. They may be an isolated finding or be associated
with chromosomal, structural, and genetic syndromes. As detailed by Núñez A. et al (2022). p., “At one time, these
malformations were thought to be pathonomics of Turner syndrome. In most large series of second-trimester fetuses
diagnosed prenatally, this still represents more than 50% of chromosomal abnormalities."
In this series, the frequency of a chromosomal abnormality approaches 50%. Neither the anatomical appearance nor
the presence of septations seem to be of value in predicting a chromosome aberration. It is possible that the classification
based on the ultrasound appearance is artificial and does not represent different anomalies, but rather is a continuum of the
lymphatic obstruction sequence (Diez G. Bazán M. 2019. p.).
With the exception of a few case reports, hydrops has been a poor prognostic finding. In a study by Calvo M. et al
(2022). p., four fetuses with diffuse hydrops resolved and had good neonatal outcomes, suggesting that if a hygroma is

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Cystic hygroma and the importance in its prenatal diagnosis
identified in the first trimester, the following treatment is suggested. Which should be offered a karyotype by CVS or
amniocentesis. If the chromosomes are normal, a detailed ultrasound and counseling should be performed.
In addition, ultrasonographic surveillance should be performed using serial scans to identify resolution of hygromas.
If the hygromas resolve before 20 weeks, it can be said that these babies will probably be morphologically normal. It is
important to note that there is no long-term follow-up of these fetuses, as well as fetuses with normal chromosomes and
persistent hygromas Rattia F. Gelvis M. (2022).
“However, authors have shown a higher risk of fetal chromosomal abnormalities in cases of fetal cystic hygroma
detected in the first trimester, specifically autosomal aneuploidy at frequencies systematically higher than those associated
with cystic hygroma in the second trimester” Nazer J. Cifuentes L. (2013). p.
The increased frequency of autosomal abnormalities in the first trimester may lead to increased first-trimester
miscarriages, resulting in cases of second-trimester cystic hygroma showing higher relative frequencies of mosaic and
nonmosaic mononosomy X ( Franco D. et al. 2022).
However, if cystic hygromas are not adequately detected, complications can arise. According to Borrego L. Arteaga J
Moliineda K. (2019), "these lesions can become infected at any time due to the seeding of microorganisms from a secondary
source of infection (respiratory tract infections), although they can also be infected primarily."
CONCLUSIONS
Cystic hygroma is a multiloculated cyst lined by endothelial cells that occurs as a result of a lymphatic malformation.
Most affect the jugular lymphatic sacs and present in the posterior region of the neck. Other common locations are the
axillary, mediastinal, inguinal and retroperitoneal regions, these cystic lesions are present at birth. Cystic hygromas are soft
cystic masses that can distort surrounding structure, including the airways. A large cystic mass in the fetal neck can pose a
significant threat to the airway at birth.
Prenatal ultrasonography and fetal magnetic resonance imaging (MRI) studies may better demonstrate the extent of
disease along with its airway mass effect. If present, careful timing of the surgical intervention, intrauterine treatment
procedure (EXIT), at the time of delivery can be life-saving, although this is more likely with solid tumors such as teratomas.
Cystic hygromas are prone to infection and bleeding within the mass. MRI is useful in delineating the extent of lymphatic
channels.
When a prenatal diagnosis of cystic hygroma is made by transvaginal or transabdominal ultrasound, karyotyping
should be recommended in all cases. The ultrasonographic examination for the diagnosis of fetal hydrops should help in the
management of the pregnancy and is useful in the counseling of future pregnancies. In the fetus with associated
chromosomal abnormality or hydrops, the chances of survival are low, so the option of terminating the pregnancy should be
offered before fetal viability.
The process is detailed in the research by Segundo R. Cruz C. Morales C. (2019). p., who mentions that “during the
course of the infection, the cystic hygroma increases in size and becomes hot, red and tender. The patient may become
feverish. The infection can affect the entire cystic hygroma or some of its cysts.
Also, during active infection, it may not remain translucent. Sometimes the cystic hygroma develops into an abscess,
which must be drained to improve symptoms. Treatment is conservative with antibiotics, antipyretics and analgesics. We
observed that, in some cases, the size of the cystic hygroma after infection is markedly reduced (Sanz M. et al 2018. p.)
The other most frequently reported and observed complication is spontaneous bleeding into the cyst. In this case,
the cysts tighten and harden. When aspirated, they produce a hemorrhagic fluid. Spontaneous bleeding in scrotal
lymphangioma may have to be treated surgically to avoid testicular ischemia. Sandoval-Martínez D. et al (2020). p., reported
spontaneous rupture, on the fourth day after birth, of a giant cystic hygroma of the neck, which required urgent surgical
intervention.
Other complications are respiratory difficulties and dysphagia, especially in cystic hygroma of the neck and oral
cavity. Sometimes, cystic hygroma of the neck and oral cavity occur simultaneously in the same patient, creating a difficult
situation for the treatment of respiratory distress and dysphagia. Lymphatic discharge from the sinus, resulting from infection
or trauma, is another rare complication (Almonacid I. et al 2020. p.).
It is important to emphasize the importance of prenatal control as a diagnostic method in the early identification of
complications, through continuous education to the mother to attend them.

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Cystic hygroma and the importance in its prenatal diagnosis
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Contribution of each author to the manuscript:
% of contribution of each author
Task
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A5
A. theoretical and conceptual foundations and problematization:
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B. data research and statistical analysis:
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20%
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20%
C. elaboration of figures and tables:
20%
20%
20%
20%
20%
D. drafting, reviewing and writing of the text:
20%
20%
20%
20%
20%
E. selection of bibliographical references
20%
20%
20%
20%
20%
F. Other (please indicate)
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Indication of conflict of interest:
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