Prenatal diagnosis of fetal lymphangiomas and outcome in all trimester: case series and literature review

Lymphangiomas 揷ystic hygromas" is a lymphatic malformation that can develop in a variety of locations on a developing fetus, most commonly in the neck, axilla, abdominal wall, mediastinal, inguinal, and retroperitoneal regions. Fetal aneuploidy, hydrops fetalis, structural abnormalities, and intrauterine fetal mortality have all been linked to lymphangiomas. We report case series of cystic hygroma in all trimester with there Obstetric outcomes which ultrasound imaging was used to identify these cases.

Higroma quístico retronucal como marcador de anomalías cromosómicas en el primer trimestre de la gestación - Actualización

Objetivo. Evaluar la asociación del higroma quístico retronucal (HQR) y anomalías cromosómicas fetales. Métodos. Estudio observacional retrospectivo de 323 fetos del primer trimestre con riesgo para anomalías cromosómicas diagnosticados por ecografía entre las 11 y 13,6 semanas. Resultados. De 323 fetos con riesgo para anomalías cromosómicas, se encontró 132 casos de anomalías cromosómicas (40,9%). Se identificaron 145 casos de HQR; en 64 (56,6%) se realizó biopsia de vellosidades coriales y en 81 (43,5%) amniocentesis, hallándose cariotipo anómalo en 82 (56,6%). De 88 fetos con HQR aislado, 33 casos (37,5%) tuvieron alguna anomalía cromosómica; en 58 fetos con HQR asociado a otros hallazgos anormales, se encontró que en 43 fetos (74,1%) hubo anomalías cromosómicas, y de ellos 24 (41,4%) tenían onda de flujo (OVF) anormal del ductus venoso, 17 (29,3%) tenían edema generalizado, 8 casos (13,8%) con cardiopatía, 7 (12,1%) ausencia del hueso nasal. Los valores predictivos del HQR fueron: sensibilidad (S) 62,1%, especificidad (E) 67%, valor predictivo positivo (VPP) 56,6%, valor predictivo negativo (VPN) 71,9%, p<0,001, OR: 3,3. El HQR asociado a otros hallazgos anormales, tuvo los siguientes valores predictivos: S 52,4%, E 76,2%, VPP 76,2%, OR: 3,5, LR+: 2,2, p<0,000. El edema generalizado y el ductus venoso anormal tuvieron los valores predictivos más altos: VPP 88,2% y 83,3%, respectivamente. Las anomalías cromosómicas encontradas con mayor frecuencia fueron: T21 (53,7%), monosomía X (18,3%), T18 (15,9%), T13 (6,1%). Conclusiones. El higroma quístico retronucal es un marcador de riesgo con alto valor predictivo para anomalías cromosómicas, siendo mayor cuando está asociado a otros hallazgos ecográficos anormales. La identificación ecográfica del HQR en el tamizaje prenatal del primer trimestre debería ser indicación para recomendar una prueba diagnóstica para anomalías cromosómicas.

Objective: To evaluate the association of retronucal cystic hygroma (RCH) and fetal chromosomal abnormalities. Methods: Retrospective observational study of 323 first trimester fetuses at risk for chromosomal abnormalities diagnosed by ultrasound between 11 and 13.6 weeks. Results: Of 323 fetuses at risk for chromosomal abnormalities, 132 cases of chromosomal abnormalities were found (40.9%). A total of 145 cases of RCH were identified; chorionic villus biopsy was performed in 64 (56.6%) and amniocentesis in 81 (43.5%); an abnormal karyotype was found in 82 (56.6%). Of 88 fetuses with isolated RCH, 33 (37.5%) had some chromosomal abnormality. In 58 fetuses with RCH associated with other abnormal findings, chromosomal abnormalities were found in 43 fetuses (74.1%) and of these 24 (41.4%) had abnormal ductus venosus flow wave (DVF), 17 (29.3%) had generalized edema, 8 cases (13.8%) with cardiopathy, 7 (12,1%) with absent nasal bone. The predictive values of RCH were sensitivity (S) 62.1%, specificity (Sp) 67%, positive predictive value (PPV) 56.6%, negative predictive value (NPV) 71.9%, p<0.001, OR: 3.3. RCH associated with other abnormal findings were S 52.4%, Sp 76.2%, PPV 76.2%, OR: 3.5, LR+: 2.2, p<0.000. Generalized edema and abnormal ductus venosus had the highest predictive values: PPV 88.2% and 83.3%, respectively. The most frequently found chromosomal abnormalities were T21 (53.7%), monosomy X (18.3%), T18 (15.9%), T13 (6.1%). Conclusions: Retronucal cystic hygroma is a risk marker with high predictive value for chromosomal abnormalities, being higher when associated with other abnormal ultrasound findings. Ultrasonographic identification of RCH in first trimester prenatal screening should be an indication to recommend diagnostic testing for chromosomal abnormalities.

Prenatal diagnosis and pregnancy outcome of increased nuchal translucency with or without nuchal cystic hygroma in fetuses during first trimester / 中华围产医学杂志

Objective:To compare the prenatal diagnosis and pregnancy outcome of increased nuchal translucency (NT) with or without nuchal cystic hygroma (CH) in fetuses with first-trimester NT ≥5 mm.Methods:Data from 131 fetuses with NT ≥5 mm who received invasive prenatal diagnosis at Guangzhou Women and Children's Medical Center from July 2017 to December 2020 were retrospectively collected and analyzed. Those with a septum in the cyst were grouped as NT with CH group ( n=57), and those without as increased NT without CH group ( n=74). Genetic test results, incidence of structural malformations, survival rate after birth were compared using Chi-square test or Fisher's exact test and non-parametric test. Results:There was no significant difference in the incidence of fetal genetic abnormalities[67.6%(50/74) vs 61.4%(35/57), χ 2=0.54, P=0.464], ultrasonic structural malformations [21.6%(16/74) vs 33.3%(19/57), χ 2=2.26, P=0.133], or in the survival rate (12/14 vs 3/8, P=0.053) between increased NT without CH group and NT with CH group. Conclusions:For increased NT with or without CH, although the two groups had different spectrum of disease, they had a high incidence of chromosomal abnormalities and structural malformations, and both groups had a certain healthy survival rate after birth.

Transoral endoscopic excision of cystic hygroma vestibular approach in adult (novel approach): a case report

Lymphangioma, soft tissue tumor was originally reported by R. Backer in 1828 and “cystic hygroma” name was first given by Wernker in 1834. It can occur in the head, neck, axilla, cervico-facial regions and below tongue. Although it is well recognized in children, it may present in adulthood. Cystic hygroma neck is traditionally removed via an overlying incision near or over the swelling. The resultant scar can be displeasing to an adult. Various endoscopic approach present in literature for excision are via neck, anterior chest, combined or robotic assisted. We here, are reporting transoral endoscope excision of cystic hygroma via vestibular approach. A 51 year old female with swelling over anterior aspect of neck, trans-illumination positive, diagnosis confirmed on CT neck, of size ~4×4 cm was our case. We decided for transoral endoscopic vestibular approach for excision, first of its kind with no assisted approach. Patient discharged after 3 post-operative days (PODs). There was mild seroma which resolved within a week. Transoral endoscopic excision of cystic hygroma via vestibular approach without any assisted approach can be applied in adult. Various approach present in literature for excision of cystic hygroma are via neck, anterior chest or combined or robotic assisted. Hence this approach can be an excellent choice for adult cystic hygroma patients who desire to avoid a neck incision. Transoral endoscopic excision of cystic hygroma via vestibular approach was successfully performed. Patient was satisfied with good cosmosis. It results in good cosmesis and better dissection. Hence can be a new method of excision of cystic hygroma in adult.

Higroma quístico fetal / Fetal cystic hygroma

El higroma quístico congénito o linfangioma es un tumor del sistema linfático, es de origen embrionario y se origina por la obstrucción del drenaje de los sacos linfáticos. Su localización en orden de frecuencia es en las regiones cervical, axilar, intraperitoneal e inguinal, y muy raro como alteración única en el mediastino anterior. Paciente de 32 años de edad, con embarazo 16 sem ± 6 días y reporte de ecografía: Embarazo de 15 sem ± 20 días, normohidramnia, higroma quístico, Ausencia de hueso nasal además de una comunicación interventricular. Paciente en sala de legrado bajo sedación profunda, se obtiene producto de sexo masculino con alteraciones faciales y aumento de volumen en región cervical. Podemos concluir que, el control prenatal es importante realizar para obtener un diagnóstico precoz con examen ecográfico seriado, estudio genético, ecocardiografía fetal y para dar tratamiento quirúrgico es necesario conformar un equipo multidisciplinario.(AU)

The congenital cystic hygroma or lymphangioma is a tumor of the lymphatic system, is of embryonic origin and is caused by the obstruction of the drainage of the lymphatic sacs. Its location in order of frequency is in the cervical, axillary, intraperitoneal and inguinal regions, and very rare as a single alteration in the anterior mediastinum. A 32-year-old patient with a pregnancy of 16 weeks ± 6 days and an ultrasound report: Pregnancy of 15 weeks ± 20 days, normohydramnia, cystic hygroma, Absence of nasal bone in addition to interventricular communication. Patient in curettage room under deep sedation, male product with facial alterations and volume increase in cervical region is obtained. We can conclude that prenatal control is important to obtain an early diagnosis with serial ultrasound examination, genetic study, fetal echocardiography and to give surgical treatment it is necessary to form a multidisciplinary team.(AU)

Adult-onset cystic hygroma in the axilla in a 44-year old female: A case report

@#This is a case of a 44- year old female presenting with an 18cm x 17cm soft, movable, non-tender mass at the right axilla extending to the lateral aspect of the right breast. Computerized tomographic scan of the chest revealed a lobulated, multi-septated hypodense mass. The patient underwent excision of the right axillary mass and final histopathology revealed cystic lymphangioma. Adult-onset cystic hygroma of the axilla is a rare case, with less than 10 studies documented in PubMed. Total surgical excision remains to be its primary treatment.

Higroma quístico retronucal como marcador de anomalías cromosómicas en el primer trimestre de la gestación / Retronuchal cystic hygroma in the first trimester of pregnancy as a marker of chromosomal abnormalities

Background: Nuchal cystic hygroma is the most frequently identified marker of chromosomal anomalies during first trimester screening. Objective: To determine the association of the nuchal cystic hygroma with chromosomal anomalies diagnosed with karyotyping done between the first and second trimesters of pregnancy. Design: Retrospective study. Setting: Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Peru. Patients. Fetuses with nuchal cystic hygroma. Methods: The data were obtained from the ILSAR database between August 2007 and May 2018, the cases diagnosed by ultrasound from week 11 to 13.6. Nuchal cystic hygroma was defined as the presence of septated liquid content in the nuchal axial section with a thickness above the 95th percentile value for increased nuchal translucency value for the crown-rump length. The karyotype was obtained between the first and second trimesters from material collected by chorionic villus sampling (BVS) or amniocentesis (AMC). Main outcome measures: Karyotyping results were compared between cases with cystic hygroma alone and cases with cystic hygroma in addition to another marker. Results: Out of 459 invasive procedures performed in fetuses with high risk for chromosomal anomalies based on the Fetal test database of Spain, there were 162 cases of chromosomal anomalies (35.3%), and 104 cases of nuchal cystic hygroma (22.7%). Nuchal cystic hygroma was associated with a higher frequency of chromosomal abnormalities, compared to fetuses without cystic hygroma (52.9% vs. 30.1%; p<0.001). Out of 61 cases of hygroma alone, 42.3% had chromosomal anomalies, and when the hygroma was associated with other markers (fetal hydrops, abnormal ductus venosus, heart disease), 65.1% had chromosomal abnormalities. There was a statistically significant difference (p=0.003) for the presence of monosomy X between the group with cystic hygroma alone and the group with hygroma and fetal hydrops. There was no difference in hygroma thickness between the groups with and without chromosomal abnormalities. Conclusions: Nuchal cystic hygroma is a risk marker with high predictive value for chromosomal abnormalities, and its identification during prenatal screening may be considered an indication to a diagnostic test. When cystic hygroma is associated to flow abnormalities of the ductus venosus or fetal hydrops, chromosomal abnormalities significantly increase. The hygroma associated with hydrops was primarily linked to monosomy X, while the hygroma associated with abnormal flow velocity waveforms of the ductus venosus was linked to trisomy 21.

Antecedentes. El higroma quístico retronucal es el marcador de anomalías cromosómicas identificado con mayor frecuencia en el tamizaje del primer trimestre. Objetivo. Evaluar la asociación del higroma quístico retronucal y anomalías cromosómicas diagnosticadas con el cariotipo, entre el primer y segundo trimestre del embarazo. Diseño. Estudio retrospectivo. Institución. Instituto Latinoamericano de Salud Reproductiva (ILSAR), Lima, Perú. Pacientes. Fetos con higroma quístico retronucal. Método. Estudio de fetos con higroma quístico retronucal, obtenidos de la base de datos de ILSAR, entre agosto del 2007 y mayo del 2018, diagnosticados por ecografía entre las 11 y 13,6 semanas. El higroma quístico retronucal se definió como la presencia de contenido líquido tabicado en el corte axial retronucal con un grosor mayor al percentil 95 del valor de translucencia nucal aumentada para la longitud corona-nalga. Se obtuvo el cariotipo entre el primer y segundo trimestre en material obtenido por biopsia de vellosidades coriales (BVC) o amniocentesis (AMC). Principales medidas de resultados. Los resultados del cariotipo fueron comparados entre los casos de higroma quístico solo y los casos que tuvieron higroma y adicionalmente otro marcador. Resultados. De un total de 459 procedimientos invasivos realizados en fetos con alto riesgo para anomalías cromosómicas en base al Fetal test de España, hubieron 162 casos de anomalías cromosómicas (35,3%) y se identificó 104 casos de higroma quístico retronucal (22s7%). El hallazgo de higroma quístico retronucal se asoció con mayor presencia de anomalías cromosómicas, comparado con los fetos sin higroma quístico (52,9% vs. 30,1%; p<0,001). De 61 casos de higroma solo, 42,3% tenían anomalía cromosómica, y cuando el higroma estaba asociado a otros marcadores (hidrops fetal, ductus venoso anormal, cardiopatía, ausencia de hueso nasal), hubo 65,1% de anomalías cromosómicas. Hubo diferencia estadística significativa (p=0,003) para la presencia de monosomía X, entre el grupo con higroma solo y el de higroma + hidrops fetal. No hubo diferencia en el grosor del higroma entre el grupo con y sin anomalía cromosómica. Conclusiones. El higroma quístico retronucal es un marcador de riesgo con alto valor predictivo para anomalías cromosómicas. Su identificación en el tamizaje prenatal podría ser indicación para recomendar una prueba diagnóstica. Cuando se asocia a anormalidad del flujo del ductus venoso o hidrops fetal, aumentan significativamente las anomalías cromosómicas. El higroma asociado con hidrops se vinculó mayoritariamente a la monosomía X, mientras que el higroma asociado con onda de velocidad de flujo-OVF de ductus venoso anormal a la trisomía 21.

Higroma quístico en recién nacido de mujer con lupus eritematoso sistémico

El lupus eritematoso sistémico es una enfermedad inflamatoria que afecta fundamentalmente a mujeres en edad fértil, múltiples son las implicaciones que esta entidad puede acarrear sobre el embarazo y a la vez el embarazo puede ser un factor activador de la actividad de la enfermedad. Se ha avanzado a pasos agigantados en el manejo clínico de las pacientes que sufren esta afección, así como en el seguimiento, manejo y control del embarazo; pero a pesar de esto aún existen complicaciones muy difíciles de detectar en etapa prenatal que afectan la percepción de calidad de vida relacionada con la salud tanto del paciente como de sus familiares. Se presenta el caso de un recién nacido con higroma quístico hijo de una paciente de 33 años con diagnóstico de lupus eritematoso sistémico.

Systemic lupus erythematosus is an inflammatory disease that mainly affects women of childbearing age. There are multiple implications of this entity on pregnancy, and pregnancy can be an activator of disease activity. It has advanced by leaps and bounds in the clinical management of patients suffering from this condition, as well as in the monitoring, management and control of pregnancy; but despite this there are still complications very difficult to detect in the prenatal stage that affect the perception of quality of life related to the health of both the patient and their relatives. We present the case of a newborn with a cystic hygroma of a 33 year old patient diagnosed with systemic lupus erythematosus.

Linfangioma cervical en un lactante / Cervical lymphangioma in an infant

Se describe el caso clínico de un lactante de 3 meses de edad, perteneciente a la comunidad San Pablo, Estado de Portuguesa, en la República Bolivariana de Venezuela, quien fue remitido al Hospital Universitario Jesús María Casal Ramos, por presentar, posterior al nacimiento, aumento de volumen en la región cervical izquierda. Los resultados de los exámenes imagenológicos e histopatológico corroboraron el diagnóstico de linfangioma. Se realizó el proceder quirúrgico y la evolución fue satisfactoria

The case report of a 3 months infant from the San Pablo community, Portuguesa State, in the Bolivian Republic of Venezuela is described. He was referred to Jesús María Casal Ramos University Hospital due to volume increase in the left cervical region after his birth. The results of the imagenologic and histopathologic exams confirmed the diagnosis of lymphangioma. The surgical procedure was carried out and the clinical course was satisfactory

Presentación de un caso: síndrome de claude bernard-horner post resección de higroma quístico / Presentation of a case: claude bernard-horner's syndrome post resection of cystic hygroma

El Higroma quístico es una malformación congénita que consiste en uno o más espacios linfáticos llenos de líquido, suelen reconocerse en recién nacidos, pero típicamente pueden ser visibles cuando aumentan de tamaño conforme al crecimiento del paciente. El Síndrome de Claude Bernard-Horner se caracteriza por una miosis, ptosis palpebral y anhidrosis en pacientes con afectación de la vía oculosimpatica, se considera una complicación neurológica iatrogénica infrecuente. Se presenta una paciente femenina de 4 años con diagnostico posnatal de higroma quístico cervical tras estudio patológico realizado, el cual fue extraído quirúrgicamente. Tres días después la paciente presenta ptosis del parpado superior izquierdo con presencia de miosis y disminución de la sudoración del mismo lado, sin alteraciones en la fuerza y movimiento del miembro superior Izquierdo.

Cystic hygroma is a congenital malformation consisting of one or more lymphatic spaces filled with fluid, usually recognized in newborns, but typically can be visible when they increase in size according to the patient's growth. The Claude Bernard-Horner Syndrome is characterized by miosis, palpebral ptosis and anhidrosis in patients with oculosympathetic pathway involvement, it is considered an infrequent iatrogenic neurological complication. We present a 4-year-old female patient with postnatal diagnosis of cervical cystic hygroma after a pathological study, which was surgically removed. Three days later, the patient presented ptosis of the left upper eyelid with the presence of miosis and decreased sweating on the same side, without alterations in the strength and movement of the left upper limb.

A Rare Case of Acquired Axillary Cystic Hygroma in an Adult Patient.

A case of cystic hygroma was found in an adult male patient of 43 -year- age in the left axilla, which was non-tender cystic mass (57 x 40 x 49 mm) filled with haemorrhagic blood. It was successfully removed surgically without any complications. Being very rare presentation in the axilla of an adult, this case is reported.

Case report of a chest wall cystic hygroma in a teenager

Cystic hygroma or cystic lymphangioma is a congenital malformation of lymphatic origin. Their occurrence on the chest wall is very rare, and they progressively grow with age infiltrating into the local tissues, around muscle fibers and nerves, making them difficult and hazardous to remove. There are various treatment modalities of such lesion. Based on the literature surgical excision is the preferred treatment of choice in cystic hygroma because it gives a better cure rate compared to other modalities. We report a case successful excision of anterolateral chest wall cystic hygroma in a teenager in Hospital Serdang. KEY WORDS:

Intralesional Injection of OK-432 in Cystic Hygroma

Background: Lymphangiomas are congenital malformations of the lymphatic system with characteristic dilated endothelium-lined spaces. It is vulnerability to infection or chemical irritants cause spontaneous reduction in size and in some cases complete resolution. Intralesional injection of OK-432 or Picibanil (lyophilized incubation mixture of Group A Streptococcus pyogenes of human origin) is slowly gaining recognition as its safety and efficacy standards have shown to avoid complications resulting from surgical interventions. The objective of this study was to evaluate the clinical outcomes of cystic hygroma patients who received OK-432 injections. Methods: In between 2011 and 2013, six patients with cystic hygroma received intralesional injection of OK-432. All the patients were assessed clinically and radiologically either via ultrasound, computer tomography (CT) or magnetic resonant imaging (MRI) prior to and after receiving the injections. Patients’ response towards treatment was classified as total shrinkage, marked shrinkage (greater than 50% reduction in size), slight shrinkage (less than 50% reduction in size) or non-responsive to treatment. Results: Mean duration of follow-up was 12 months. Total shrinkage was achieved in one patient, marked shrinkage in three patients and one patient experienced mild shrinkage. Only one out of the six patients showed no response to treatment. None of the patients in this study experienced serious complications or adverse effects post intralesional injection of OK-432. Conclusions: Intralesional OK-432 injection is an effective and safe alternative in treating cystic hygroma.

Adult Cystic Hygroma– A Rare Entity

Objective Lymphangiomas (Cystic Hygromas) are rare congenital malformations commonly seen in children. Its occurrence in adults is uncommon with very scarce reports in the literature. It mainly occurs in infants or children younger than 2 years of age. We report this case to emphasise the need to consider cystic hygroma in differential diagnosis of neck masses in adults. Case Reports A 50-year-old female presented with a swelling over the antero– lateral aspect of neck of size 8´6 cm since last 4 years, which was not associated with pain, discharge, discolouration or sudden increase in size. Conclusion The awareness of occurrence of cystic lymphangio main adults is important for its proper management, which includescomplete surgical removal, to prevent recurrence.

Iniencephaly and Associated Anomalies In A 13 Week Fetus.

Iniencephaly is a rare neural tube defect (1 in 65,000 births in India). It involves defect of occiput and inions combined with rachischisis and retroflexion of head. We present a rare case of inencephaly diagnosed on ante-natal ultrasound in a 13 weeks fetus and associated with cystic hygroma and single umbilical artery. The fetal cervico-thoracic spine was retroflexed, occipital area was soft and brain tissue and spinal cord was visible externally in cervical region. The side of neck showed subcutaneous edema and two vessels (1 umbilical vein and 1 umbilical artery) were present in the umbilical cord. On x-ray examination spinous processes of all vertebrae showed presence of ossification centers except in the cervical region.

Obstrucción de la vía aérea por higroma quístico en un recién nacido / Airway obstruction due to cystic hygroma in a newborn

Introducción: El higroma quístico es una dilatación difusa de los conductos linfáticos. Puede diagnosticarse prenatalmente a través de una ecografía obstétrica. La incidencia aproximada es de 1/6,000 nacidos vivos y de 1/750 abortos espontáneos. Esta lesión puede presentarse a nivel cervical en la parte inferolateral del cuello, donde aparece con grandes cavidades únicas o multiloculares. En general, se producen por la falta de conexión de los vasos linfáticos con los sacos linfáticos yugulares, o de estos con el sistema de drenaje venoso. Caso clínico: Con el fin de enfatizar sobre la notificación de estas enfermedades y las opciones de tratamiento no quirúrgico, se presenta una paciente con higroma quístico cervical (cara lateral del cuello) con compromiso de la vía aérea y digestiva por la extensión del tumor. Se trató con etanol puro por medio de múltiples infiltraciones guiadas por ultrasonido. Conclusiones: Dependiendo de las características de la lesión, el tratamiento puede ser quirúrgico, farmacológico o mixto. Cuando la extensión es importante o se relaciona con órganos vitales, la mejor opción de tratamiento es, en primer lugar, reducir el tamaño de la lesión y el compromiso de los órganos contiguos. Esto se hace por medio de escleroterapia. Posteriormente, de ser necesario, se realiza cirugía.

Background: Cystic hygroma is a diffuse dilatation of the lymphatic system, which can be prenatally diagnosed by ultrasound. The incidence is 1/6,000 live births and 1/750 spontaneous abortions. This malformation can occur at the cervical level located in the inferior lateral part of the neck where it appears with large single or multilocular cavities. It is generally caused by a lack of connection with jugular lymphatic channels or with the venous drainage system lymph sacs. Case report: In order to emphasize these diseases and non-surgical treatment options, we present a patient with a cervical cystic hygroma that compromises the airway and digestive tract due to tumor extension and treatment with pure ethanol with clinical improvement. Conclusions: Depending on the characteristics of the lesion, treatment options are surgery, pharmacological or mixed. When the extension involves vital organs, the best option is to reduce the size of the lesion and the compromise of the adjacent organ. This is done by sclerotherapy and, if necessary, surgery.

Diagnóstico prenatal ultrasonográfico de higroma quístico / Prenatal Ultrasonographic Diagnosis of Cystic Hygroma

El higroma quístico es el resultado de segmentos del saco linfático yugular que están fuera de sitio o de la falla de los espacios linfáticos para conectar con los principales canales linfáticos y constituye un tumor líquido claro, limpio y transparente; se diagnostica por ecografía en el primer trimestre del embarazo, porque se aprecia una masa que sobresale en la pared posterior o lateral del cuello, su aparición se asocia a cariotipos anormales, por lo cual es indispensable un estudio de cariotipo humano. El higroma quístico está asociado a trisomía 21, 18 y 13, entre otras. Se reportó el caso de una paciente con embarazo de 13,2 semanas, a la cual se le realizó marcador genético, detectándose un feto con una tumoración quística en la región cervical. Se decidió la interrupción de la gestación, mediante el uso de misoprostol, obteniéndose un higroma quístico como resultado anatomopatológico, que reafirmó el diagnóstico ultrasonográfico.

Cystic hygroma is a result of jugular lymph sac segments that are out of place or the failure of the lymphatic spaces to connect with the main lymphatic channels. It is a clear, clean and transparent liquid tumor, diagnosed by ultrasound in the first trimester of pregnancy, for a mass that protrudes in the back or side wall of the neck can be seen, its onset is associated with abnormal karyotypes, which is indispensable for a study of the human karyotype. Cystic hygroma is associated with trisomy 21, 18 and 13, among others. A case of a patient with pregnancy of 13.2 weeks, who underwent genetic marker, detecting a fetus with a cystic tumor in the cervical region was reported. Interruption of pregnancy was decided by using misoprostol, a cystic hygroma was revealed that confirmed the ultrasonographic diagnosis.

Differential Diagnosis of A Case of Bilateral Cystic Swelling of Neck In An Aborted Fetus.

Objective: To analyse the anatomical and radiological observations in a fetus with bilateral cystic swelling of neck. Materials and Methods: A total of 30 aborted fetuses were studied for academic purpose ranging from age 12 weeks to 36 weeks. A male aborted fetus of 24 weeks with huge swelling in cervicothoracic region was investigated by radiological and ultrasonographic examination. A detailed foetal autopsy was conducted for associated anomalies. Observation: A huge cystic swelling was observed in the posterior region of neck and upper thorax with mandibulo facial defect. About 1.2cm defect was noted in occipital bone with herniation of echogenic brain contents and hypoechoic collection in to the occipital region. Conclusion: Prenatal diagnosis of Cystic hygroma and Encephalocele can be made from 9th week onwards, which will be helpful for planning delivery or to deal with neonatal complications.

Congenital malformations in multiple births.

Objective: The present study was done to know and compare the incidence of congenital malformations in singleton and multiple births in our hospital & compare with other studies. Methods: A retrospective study done by collecting the data from parturition register from Jan 2008 to Dec 2011 (4yrs) from Cheluvamba Hospital attached to Mysore Medical College and Research Institute. Total number of the live births, still births, and abortions> 20 wks were collected. Details of multiple births such as maternal age, gestational age, sex & birth weight of the babies, U/S reports and congenital anomalies (CA) were noted. Results: The total number of singleton births were 48700 and number of babies who had congenital malformations were 235 (48.25/10,000 births).Total number of multiple births were 579 including 10 triplets and number of babies who had CA were 11 (189.98/10,000 births, P<0.0001). In the present study sex of the babies were noted in all multiple births and zygosity could not be recorded. Among 579 multiple births 404 were of the Same Sex (SS) and 165 were of Opposite Sex (OS) in twins and 6 were of the same sex and 4 were of opposite sex in triplets. According to Weinberg formula 50% of same sex (SS) twins are monozygotic and 50% are dizygotic twins. Among the 11 babies with CA, 4 monozygotic twins had anomalies related to twinning such as Acardia with TRAP sequence (3 twins), and Thoracophagus (1 twin).5 babies had CNS anomalies, 1 with cystic hygroma, 1 baby with multiple system affected. Conclusion: The incidence of birth defects is more in multiple births and especially in monozygotic twins. In the present days increase in twinning rate due to advanced maternal age, hereditary factors and use of ovulation inducing drugs, which results in premature and low birth wt babies associated with poor lung maturity.

Higroma quístico y translucencia nucal aumentada como marcadores de anomalías cromosómicas

Objetivos: Determinar la importancia del espacio retronucal en fetos entre las 11 y 13+6 semanas, identificando sus características, la asociación con anomalías cromosómicas y las posibles diferencias entre higroma quístico y translucencia nucal aumentada. Diseño: Estudio transversal prospectivo. Institución: Instituto Latinoamericano de salud Reproductiva, Lima, Perú. Participantes: Gestantes y sus fetos con diagnóstico citogenético prenatal. Intervenciones: Entre el año 2007 y junio 2012, se revisó 266 casos con diagnóstico citogenético prenatal, que correspondieron a 230 amniocentesis realizadas después de las 14 semanas y 36 biopsias de vellosidades coriales (BVC), entre las 11 a 13 semanas. Principales medidas de resultados: Marcadores ecográficos prenatales. Resultados: Se detectó 106 casos de anomalías cromosómicas (39,9%). El higroma quístico (HQ) fue el marcador que con más frecuencia, en relación al aumento de la translucencia de la nuca (TN) (30,8% versus 11,3%), se asoció a anomalías cromosómicas (68,3% versus 31%), correspondiendo al HQ una sensibilidad (S) de 45%, valor predictivo positivo (VPP) de 62%, ratio de probabilidad+ (LR+) de 2,4, y para la TN aumentada S 11%, VPP 40%, LR+ 1. El HQ se asoció en 35,7% a monosomía X, la TN aumentada a trisomías. Conclusiones: El HQ fue el marcador de anomalías cromosómicas más frecuente encontrado entre las 11 y 13+6 semanas y tuvo mayor valor predictivo que la TN aumentada. Ambas serían dos entidades distintas, siendo necesaria su diferenciación.

Objectives: To determine the importance of nuchal translucence in fetuses 11 to 13 +6 weeks, identifying characteristics, association with chromosomal anomalies and differences between cystic hygroma and increased nuchal translucency. Design: Prospective cross-sectional study. Setting: Instituto Latinoamericano de Salud Reproductiva, Lima, Peru. Participants: Pregnant women and their fetuses with prenatal cytogenetic diagnosis. Interventions: Between 2007 and June 2012, 266 cases with prenatal cytogenetic diagnosis had 230 amniocentesis after 14 gestational weeks and 36 chorionic villi biopsy (CVS) between 11-13 gestational weeks. Main outcome measures: Prenatal ultrasound markers. Results: One hundred and six cases of chromosomal abnormalities (39.9%) were found. Cystic hygroma (CH) was more often found than nuchal translucency (NT) (30.8% versus 11.3%) associated with chromosomal abnormalities (68.3% versus 31%), corresponding to HQ sensitivity (S) 45%, positive predictive value (PPV) 62%, likehood ratio+ (LR+) 2.4, and for increased TN S 11%, PPV 40%, LR+ 1. CH was associated in 35.7% to monosomy X, and NT to trisomy. Conclusions: CH was the most common chromosomal abnormalities marker found between 11 and 13 +6 weeks and had greater predictive value than increased NT. Each would represent separate entities requiring differentiation.