Cystic Hygroma Colli Research Articles

Prenatal Detection of Rapid Progressive Changes in Massive Lymphangioma from Flank to the Lower Extremity.

Lymphangioma is a congenital anomaly in which abnormal lymphatic drainages localize to form a benign mass, but it has the tendency to grow in size and the potential to infiltrate surrounding structures, causing devastating effects and leading to severe morbidity. The most common site of lymphangioma is the neck region (cystic hygroma colli), whereas lymphangioma in the lower limbs is very rare, accounting for only 2% of cases. Accordingly, the prenatal diagnosis of lymphangioma of the lower limbs has been scarcely reported. This study describes two cases of lymphangioma of the lower limbs, focusing on unique sonographic features and the natural course of rapidly progressive changes, which is different from nuchal lymphangioma. Based on previous isolated case reports together with our two cases, lymphangioma of the lower limbs usually develops in the second trimester, tends to have rapidly progressive changes, and is unlikely to be associated with aneuploidy and structural anomalies. Diagnoses can be made by using sonographic findings pertaining to the subcutaneous complex and multi-septate anechoic cystic lesions in the lower limbs, the latter of which can infiltrate visceral structures. Prenatal detection can be helpful in laying the groundwork for providing counseling to the parents and the planning of management strategies, i.e., opting to terminate the pregnancy, revising delivery plans, and looking towards the postnatal management of the infant.

Difficult Airway Management in Pediatric with a Large Cystic Hygroma Colli Undergoing One-Stage Excision Surgery

Background: A large cystic hygroma colli is a complicating factor in airway management in pediatric. Proper preparation, planning, and anticipation can reduce the risk of complications, morbidity, and mortality during difficult airway management. The fundamental principle of difficult airway management is to maintain adequate oxygenation and avoid hypoxemia by maintaining spontaneous ventilation. Case: A 22-month-old girl, weighing 9 kg, diagnosed with a large cystic hygroma colli who underwent single-stage excision surgery. Cystic hygroma was experienced since birth and with age, the cysts enlarge to a size of 25 x 17 x 12 cm which extends towards the face and shoulders. The patient did not experience stridor and symptoms of airway obstruction. The chest x-ray reveals no expansion of the cyst into the chest cavity and showed minimal tracheal deviation to the right. The difficult airway management was accomplished while maintaining the patient's spontaneous breathing. Sedation and analgesia obtained with intravenous administration of dexmedetomidine, ketamine, and nebulized lidocaine. A video laryngoscope is used to facilitate intubation. Awake extubation was performed after confirming that there was no risk of complications of laryngeal edema, laryngeal nerve injury, and tracheomalacia using a cuff-leak test. Conclusion: Maintaining spontaneous breathing, optimal levels of sedation and analgesia by administering dexmedetomidine, ketamine, and nebulizing lidocaine, and the use of a video laryngoscope can provide successful management of difficult airways due to a large cystic hygroma colli in pediatric patients.

Distended jugular lymphatic sacs in fetuses with increased nuchal translucency: correlation with first-trimester findings in aberrant karyotypes

Objective: We investigated the prognostic relevance of ultrasound visibility of distendend jugular lymphatic sacs (JLS) in fetuses with aberrant karyotypes in First-trimester-screening. Furthermore we tried to differentiate between increased nuchal translucency (NT) and cystic hygroma colli.Methods: We performed a retrospective single center study in 1874 patients presenting for First-trimester-screening between 2009 and 2013. All fetuses with an abnormal risk calculation and NT > 2.5 mm (95th percentile) were reviewed for ultrasound visibility of JLS. A group of 30 fetuses with normal risk calculation served as control. Karyotyping was performed by chorionic-villi-sampling or amniocentesis, respectively.Results: In a total of 2030 fetuses 70 (3.44%) with pathologic first-trimester-screening results showed either aberrant karyotypes or severe ultrasound pathologies. Main aberrant karyotypes were trisomy 21 (25), trisomy 18 (16), trisomy 13(six), Monosomy X (four), 47, XYY or 47, XXX (three) and Noonan’ syndrome (two). Distended JLS were visible in 47% of all cases. Statistical anaylsis found a significant correlation between NT and JLS size for the fetuses with trisomies 21, 18 and 13 (r = 0.53, p < 0.002). Cystic hygroma colli was present in all Turner and Noonan syndromes.Conclusions: Distended JLS have a strong correlation with abnormal karyotypes and increased nuchal translucency. Karyotyping should be offered in these cases.

Prenatal diagnosis of a 12q22q23.2 interstitial deletion by array CGH in a malformed fetus

We report the prenatal diagnosis of a 12q22q23.2 de novo interstitial deletion performed by array based comparative genomic hybridization (array CGH) in a fetus with cystic hygroma colli, intrauterine growth retardation, microcephaly and micrognathism.Haploinsufficiency for insuline-like growth factor 1 gene (IGF1), which is mapped in the deleted region, is suggested because of its implication in prenatal and postnatal growth and in neuronal maturation.This case demonstrates the contribution of array CGH in prenatal diagnosis for detecting small unbalanced chromosomal abnormalities in malformed fetuses and, subsequently, for genetic counselling.

Nuchal translucency and cystic hygroma colli in screening for fetal major congenital heart defects in a series of 12910 euploid pregnancies

Nuchal translucency and cystic hygroma colli in screening for fetal major congenital heart defects in a series of 12910 euploid pregnancies

Nuchal translucency and cystic hygroma colli in screening for fetal major congenital heart defects in a series of 12 910 euploid pregnancies

Nuchal translucency and cystic hygroma colli in screening for fetal major congenital heart defects in a series of 12 910 euploid pregnancies

P25.12: Spontaneous resolution of cystic hygroma colli and intrabdominal cyst in a fetus with normal karyotype

P25.12: Spontaneous resolution of cystic hygroma colli and intrabdominal cyst in a fetus with normal karyotype

Prenatal sonographic features of trisomy 1q

We describe the sonographic features of trisomy 1q in 2 affected fetuses and identify 17 other published reports of this entity in the literature. Four of 5 (80%) diagnoses made at < or = 14 weeks' gestation demonstrated increased nuchal translucency or cystic hygroma colli. During the second and third trimesters, findings included cerebral ventriculomegaly (n = 8 [57%]), nuchal skin fold > or = 6 mm or cystic hygroma colli (n = 5 [36%]), urinary anomalies (n = 5 [36%]), digit malformations (n = 5 [36%]), and abnormal amniotic fluid volume (n = 6 [40%]). Findings in trisomy 1q may be influenced by coexisting chromosomal deletions or mosaicism. Sonographic features generally reflect the location and size of the 1q duplication.

P14.07: Fetal akinesia deformation sequence associated with cystic hygroma colli in a fetus affected by Down syndrome, at 11–14 weeks' gestation

P14.07: Fetal akinesia deformation sequence associated with cystic hygroma colli in a fetus affected by Down syndrome, at 11–14 weeks' gestation

Prenatal Diagnosis of Lymphangiomas at Unusual Locations: Report of Three Cases

Lymphangioma is a type of developmental abnormality of the lymphoid system that occurs at the site of lymphatic-venous connections. In most cases, lymphangiomas are located in the posterior neck and head as cystic hygroma colli, which are frequently associated with chromosomal abnormalities and various malformation syndromes. Lymphangiomas at locations other than the posterior neck and head are rarely seen. We report the prenatal diagnosis of two cases of intrauterine axillary lymphangiomas and one case of an intraabdominal lymphangioma. The sonographic appearance of these lymphangiomas was a thin-walled, multilocular cyst located in the axillary area or the pelvis. The karyotypes of these babies were normal. One of the babies did well after surgery; one had neurologic sequelae, and one later developed a lymphangioma in the skull. The prognoses of these babies seemed to be better than those with cervical lymphangiomas. However, we are unable to draw any definite conclusions because of the limited number of cases. More investigations should be conducted in the future.

Cytogenetic discrepancy between fetal tissue and body fluid in a fetus with cystic hygroma colli

Cytogenetic discrepancy between fetal tissue and body fluid in a fetus with cystic hygroma colli

Prenatal diagnosis and genetic analysis of X chromosome polysomy 49, XXXXY.

We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a 49,XXXXY fetus. A 31-year-old, primigravida woman was referred for genetic counselling at 17 weeks' gestation with the sonographic findings of intrauterine growth retardation, generalized oedema, a large septated cystic hygroma colli measuring 5x4 cm, and abnormal posturing of the lower extremities. Quantitative fluorescent polymerase chain reaction (QF-PCR) with small tandem repeat (STR) markers specific for chromosome X and a pentanucleotide marker X22 for the Xq/Yq pseudoautosomal region PAR2 rapidly detected the X-chromosome polysomy from amniotic fluid cells. This abnormality appeared to arise from successive non-disjunction during maternal meiosis I and meiosis II. Cytogenetic analysis revealed a karyotype of 49,XXXXY. Our case shows that a 49,XXXXY fetus in the second trimester may demonstrate hydrops fetalis and a large septated cystic hygroma colli by prenatal ultrasound. Our case also shows that QF-PCR assays with sex chromosome specific STR markers provide rapid prenatal diagnosis of numerical sex chromosome aneuploidy as well as its genetic cause in fetal cystic hygroma.

Ear dysmorphism associated with cystic hygroma colli in second-trimester fetuses.

To investigate if fetuses with cystic hygroma colli have ear article dysmorphism, we studied 16 fetuses with cystic hygroma colli, all of which had 45,X karyotype, and 107 normal fetuses. All the specimens were second-trimester formalin-preserved human fetuses. The ear lengths and widths were measured and ear indices (length/width) calculated. There were no significant differences in the ear measurements of age-matched normal male and female fetuses (P > .05). Ear growth was less linear in the cystic hygroma colli group than in the normal fetuses; Pearson's coefficient .45 vs. .87 for ear length, and r = .77 vs. .88 for ear width. The mean (+/- SD) ear index of the normal fetuses was 1.56 +/- 0.22 compared to 2.10 +/- 0.36 of the cystic hygroma colli fetuses, P < .001. The ear dysmorphism (> 2 SD of gestational age norm) was observed in 6.3% (1/16) of the ear widths, 56.3% (9/16) of the ear lengths, and 62.5% (10/16) of the ear indices. We conclude that cystic hygroma colli fetuses with 45,X have unique ear auricle morphology.

Cystic hygroma colli: Perinatal outcome after prenatal diagnosis

Prenatally diagnosed cystic hygroma colli is associated with Turner syndrome, but has been reported with a variety of other conditions. The association with abnormal karyotypes frequently results in a decision to terminate the pregnancy. Information on the natural history of this malformation is thus limited. We reviewed 34 cases of cystic hygroma colli which were diagnosed by ultrasound at a mean gestational age of 17.3 +/- 3.4 weeks. Pregnancy outcome was known for 31 of these cases. The distribution of fetal karyotypes, available for 23 fetuses, was similar to that reported in other series. Only two fetuses, both with an abnormal karyotype, were liveborn at term. Fourteen pregnancies were electively terminated while the remaining 15 cases resulted in spontaneous pregnancy loss. Twenty-six fetuses underwent necropsy which generally confirmed the prenatal ultrasound findings. However, in 9 cases associated anomalies had been missed by the sonogram. Only one fetus with associated anomalies survived to term. Hydrops was common and occurred in most of the spontaneous losses. This series suggests that the prenatal finding of cystic hygroma colli portends an extremely poor prognosis regardless of the karyotype or the presence or nature of associated anomalies. We confirm that karyotypes other than monosomy X are common and that perinatal survival is highly unlikely, especially in the presence of hydrops fetalis.

Pathogenesis of the lethal multiple pterygium syndrome

We present autopsy studies in 4 unrelated fetuses with the lethal multiple pterygium syndrome (LMPS) with special emphasis on the neuromuscular system. The data suggest that LMPS combines the manifestations of a jugular lymphatic obstruction sequence with those of an early severe fetal akinesia sequence. The jugular lymphatic obstruction sequence with resultant edema and cystic hygroma colli causes fetal lethality usually in the second trimester of pregnancy. Generalized amyoplasia appears to be an important mechanism in the pathogenesis of fetal akinesia as part of LMPS and is not associated with dysgenesis or degeneration of the central nervous system (CNS) but is apparently the result of an early fetal muscular "dystrophy." We propose a genetically determined insult affecting the early embryonic development of both lymph vessels and muscles as the basic defect in LMPS. Placental structure, studied in all 4 cases, demonstrated that triploidy-like placental lesions are specific to LMPS. The present findings suggest that LMPS may be a less heterogeneous entity than previously proposed.

Amniotic Fluid Alpha-Fetoprotein Levels in the Differential Diagnosis of Cystic Hygroma

In 7 second trimester pregnancies ultrasound (US) demonstrated cystic hygroma colli (CHC); amniocentesis was performed in 6 patients. In the 7th patient, because of oligohydramnios, the fluid for karyotype was aspirated from the CHC. Five pregnancies had been referred secondary to abnormalities on US and 2 others because of low maternal serum alpha-fetoprotein (MSAFP). Four karyotypes were abnormal (45,X;47,XX+21; 47,XY+21; 46,XX/45,X), and 3 had normal karyotypes. Amniotic fluid alpha-fetoprotein (AFAFP) was normal in 4 pregnancies and low in 2 (0.09 MOM, 0.41 MOM). Of 2 pregnancies with trisomy 21 one had been referred for low MSAFP. In 2 pregnancies with normal karyotypes, US findings at early gestational age (14-17 weeks) of small, nonseptated, bilateral CHC disappeared during pregnancy; these women delivered normal, term babies. Most prenatally diagnosed CHC are not in fetuses with Turner syndrome. With a normal karyotype and CHC as the only finding on early US in utero, normal neonatal survival is possible. AFAFP is not elevated in pregnancies with CHC. If AFAFP is elevated with a positive acetylcholinesterase, such results may suggest that the CHC was inadvertently aspirated.