Hygroma Colli Research Articles

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.

Increased Nuchal Translucency, Hydrops fetalis or Hygroma colli

Objectives: Nuchal translucency measurement of 3 mm or more (≧95th centile for gestation age), hydrops fetalis or hygroma colli between the 11th and 14th weeks of gestation is associated with a higher risk of fetal Down syndrome and other aneuploidies. So far, chromosome preparation of chorionic villi samplings (CVS) after short-term (or direct) culture is the only valid, reliable and rapid method of choice for the early detection of chromosomal aberrations. However, because of the placental mosaicisms detected after short-term culture, CVS has to be confirmed by a second method. Moreover, short-term villi preparation does not always provide a sufficient quantity and quality of metaphases to enable cytogenetic analysis. Unfortunately, a predicative cytogenetic result will be available only after long-term cultivation (usually after 1–2 weeks). An alternative rapid method, inexpensive and suitable for diagnosing autosomal trisomies, is the quantitative fluorescence polymerase reaction (QF-PCR) using different polymorphic small tandem repeats (STRs) on CVS-DNA. Therefore, it was the aim of the study to evaluate whether a new CVS test strategy could be employed in early pregnancies at high risk after the rapid detection of fetal chromosomal abnormalities by QF-PCR for chromosomes 13, 18 or 21 and sexing in conjunction with short-term chromosome analysis. Materials: Nineteen CVS were chosen for QF-PCR detection of trisomy 21, 18 or 13 after an increased nuchal translucency measurement (≧95th centile for gestation age), a hydrops fetalis or a hygroma colli. The amelogenin locus of chromosomes X and Y (AMXY) were used for sexing. The QF-PCR results were compared with routine karyotyping after short- and/or long-term cultivation of CVS cells. Results: An informative result was demonstrated in all analysed specimens. Nine CVS were diagnosed as a QF-PCR trisomy either for chromosome 21, 18 and 13. The pathological samples also included 4 cases of mosaicism where the normal cell line was not identified by QF-PCR. In 1 additional case with a normal QF-PCR result, short-term CVS chromosome analysis showed a mosaic trisomy 13, whereas longterm CVS culture revealed a normal karyotype. The malformed aborted fetus showed no clinical signs of trisomy 13, confirming the normal results obtained by QF-PCR and long-term CVS chromosome analysis. One pregnancy with a Turner syndrome was not identified by molecular analysis. Conclusions: This study showed that all early pregnancies with a clinically relevant autosomal trisomy could be detected prenatally in routine practice by QF-PCR. The combined use of both rapid methods – QF-PCR and short-term chromosome analysis – optimise the results by minimising the possibility of false-positive or false-negative findings. We believe that after verification of a pathological result obtained by two independent methods (QF-PCR and short-term CVS chromosome analysis), long-term villi cultivation is no longer necessary. However, in all cases with discrepancies, especially in samples with mosaic findings at short-term CVS cultivation, further studies are still necessary.

Hygroma Colli Cysticum: Prenatal Diagnosis and Prognosis

The objective of this study is to analyze the prenatal management and prognostic factors of hygroma colli cysticum by using cytogenetic tests and sonographic morphological features. All cases with hygroma colli cysticum diagnosed and managed at our Prenatal Diagnostics Unit between January 96 and September 2000 were analyzed. Sonographic morphological features were divided in two groups; nonseptated (n = 18) and septated (n = 12) hygroma colli cysticum lesions were compared with fetal karyotype results and pregnancy outcome data. Statistical analysis was performed by Chi-square test and statistical significance was defined as p <0.05. In 5 years, 30 cases with hygroma colli cysticum were identified. Cytogenetic results were obtained from 23 (76.7%) cases (four chorionic villus sampling and 19 amniocentesis). Chromosomal abnormalities were present in 13 cases (56.5%). The most common chromosomal abnormality was Turner Syndrome (four cases, 17.4%) and Trisomy 18 (four cases, 17.4%). Pregnancy outcome data were available for 29 patients. Those fetuses with septated hygroma colli cysticum tended to have a worse fetal outcome, without statistical significance (p >0.05), compared with the nonseptated hygroma colli cysticum cases (75 vs. 61.1%, respectively). Fetal hygroma colli cysticum, either septated or not, carries high risks of aneuploidies and adverse fetal outcome. Recommended management includes karyotyping and if parents decide to continue the pregnancy ultrasound scan at 20 to 22 weeks' gestation is necessary, for excluding associated anomalies. At birth, if the cystic hygroma persists, it should be noted that a respiratory difficulty can happen and a pediatrician should standby as a precaution.

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.

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

Fetal trisomy 10 mosaicism: ultrasound, cytogenetic and morphologic findings in early pregnancy

We report the ultrasound, cytogenetic and morphologic findings in a case of trisomy 10 mosaicism prenatally detected by chorionic villus sampling (CVS). CVS sampling was carried out at the 13th week of gestation because of ultrasound diagnosis of hydrops fetalis and hygroma colli. Trisomy 10 mosaicism was diagnosed in cells from the cytotrophoblast (short-term culture) and the chorionic villus core (long-term culture). Fetal mosaicism was confirmed after termination of pregnancy in umbilical cord cells, placenta and fetal skin fibroblasts.

Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy

Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy

First-trimester neck abnormalities: three-dimensional evaluation.

In order to study the first trimester ultrasonographic differences between nuchal translucency and hygroma colli, we rescanned 25 fetuses (13 with nuchal translucency and 12 with hygroma colli) using transvaginal and three-dimensional ultrasonography, after obtaining a fetal karyotype report. Our objective was to test the premise that the different physiopathologic mechanisms of both processes would be reflected in detectable sonographic differences. Our retrospective analysis showed that the most striking ultrasonographic difference was the presence of bullae as well as greater irregularity, extent, and amplitude of the membrane in cases of hygroma colli. Fetuses with simple nuchal translucency had a more homogeneous linear membrane. Although detailed analysis was impossible in 30% of cases, we found three-dimensional ultrasonography to be a useful technique for establishing the differences between these two entities.

Diagnostic and perinatal management of fetal extrasystole.

Fifty fetuses referred to the Polish Mother's Memorial Hospital for fetal echocardiography between January 1, 1991 and June 1, 1995 were evaluated. The mean fetal gestational age at the time of diagnosis of arrhythmia was 34.1 weeks, and the mean gestational age at the time of delivery was 38.7 weeks. Checkup echocardiographic examinations were performed every 10-14 days, for a mean 2.4 studies per fetus. In most cases (48/50, 96%), premature atrial contractions were present during the first echocardiography examination. The fetal heart study was normal in 30 cases; in 7 (14%) there was tricuspid valve regurgitation, in 7 (14%) an atrial septal aneurysm, in 4 congenital heart defects, in 1 myocardial hypertrophy, and in 1 disproportion in the four-chamber view. Of the 50 fetuses, 43 underwent regular echocardiographic monitoring alone; in 7 cases, based on the presence of additional echocardiographic findings, pharmacotherapy was applied (digoxin, verapamil, or both). Three neonates died after delivery owing to malformations in two cases (one critical aortic stenosis, one spina bifida plus hygroma colli) and due to myocarditis in one case. In six of seven newborns treated in utero, myocarditis was diagnosed after birth (including the one with neonatal demise). Most of the newborns were in good condition after birth, their mean Apgar score being 8.6 and the mean birth weight 3259 g. We concluded that most extrasystoles represent an isolated anomaly, not affecting the fetal condition. Their presence should not influence the obstetric care and may require only echocardiographic monitoring. In most of our cases the premature contractions subsided after birth, although sometimes they preceded fetal supraventricular tachycardia or appeared after congenital myocarditis.

Neonatal teratoma presenting as hygroma colli

Neonatal teratoma presenting as hygroma colli

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.

Pränatale Chromosomenbefunde bei sonographisch auffälligen Feten

A retrospective evaluation of 463 prenatal chromosome analyses in a total of 375 patients with suspicious ultrasound findings, revealed a high rate of severe chromosomal abnormalities (16%). The highest risk for an abnormal karyotype was found after sonographic detection of hygroma colli. Abnormal chromosome counts were also frequently found in fetuses with omphaloceles, duodenal atresia and hydrops fetalis, as well as in presence of intrauterine growth retardation and/or anomalies of the amniotic fluid volume. The anomalies mentioned above are, therefore, an urgent indication for a prenatal chromosome analysis. The technical improvements of ultrasound machines and growing experience of operators will lead to an increasing importance of sonography as a method for the identification of pregnancies, that are at high risk for chromosomal abnormalities.

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.

Inca und die väterliche Angst oder die ultrasonographische Haarverwirrung

A villous tumour on the occiput of his own unborn daughter is followed up by the author, using serial ultrasound examinations. On closer investigation, the tumour is identified as a very prominent mop of hair on the occiput of the foetus. Differential diagnosis (which also reflects paternal anxiety) includes hygroma colli, which may present a similar ultrasonographical appearance.

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.

Rate of chromosomal aberrations in prenatally detected hydrops fetalis and hygroma colli.

Chromosome analyses were carried out in a series of 775 fetuses with morphological abnormalities diagnosed by ultrasound. Among these cases, 57 demonstrated non-immune hydrops fetalis with hygroma colli (group 1) and a further 116 non-immune hydrops fetalis without hygroma colli (group 2). Different chromosome abnormalities were found in 54.5% of cases of group 1 where chromosome analyses could be performed, and in 27.6% of cases of group 2. The most common aberrations were monosomy X and trisomy 21.

Ultrasound diagnosis and evaluation of fetal tumors.

Fetal tumors represent a rare and heterogeneous group of abnormalities. A significant proportion of them can now be diagnosed by using modern high resolution ultrasonic equipment. During 15 years there were 57 fetal tumours detected prenatally. Hygroma colli is the most frequent fetal tumor. It should be emphasized that cystic hygroma generally carries poor prognosis, and after an early diagnosis, termination of pregnancy is most logical approach. Contrary to the general opinion our own experience showed that there are cases in which prognosis could be much better as illustrated with our 4 cases. All of the treated fetuses, after surgical resection, had normal development and are now on the age of 5, 4, 3 and 2 years of life. An ovarian cyst can be suspected if a fluid-filled structure is visualized next to a fetal kidney and female external genitalia are recognizable. The ultrasound finding suggestive of an ovarian cyst is that of a pelvic cystic or complex mass in a female fetus with normal kidneys and urinary bladder and a normal gastrointestinal tract. In most cases, the normal course of fetal ovarian cyst is a spontaneous intrauterine or postnatal involution. Prenatal diagnosis improves neonatal outcome by allowing an appropriate choice of the optimal time, mode and place of delivery in order to avoid accidental and unexpected intrapartum and postnatal complications. The management of a fetus affected by an ovarian cyst depends on the size and on the echo-pattern of the cyst. It remains unclear whether in utero puncture of the cyst and evacuation of its content should be justified in cases of particularly large ovarian cyst. In our opinion intrauterine procedure can be attempted in the presence of large cyst fulfilling the fetal abdomen. We have treated actively two cases of large ovarian cysts by ultrasonically guided puncture before delivery and both fetuses underwent surgery later without complications. If properly performed puncture of the cyst seems to be a low risk procedure in comparison to potential problems that cyst may cause to the fetus or by causing dystocia. Sacrococcygeal teratoma represents the most frequent tumor in the fetuses and newborns. Prenatal diagnosis is usually simple and based on the visualization of tumor of variable size and internal structure. Tumors may appear as completely cystic, mixed or predominantly solid with obvious calcifications. Cystic and calcified tumors are most likely to be benign. Obstetrical management of sacrococcygeal teratoma depends on numerous parameters which include size and texture of the tumor, and gestational age.(ABSTRACT TRUNCATED AT 400 WORDS)

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.

Anaesthesia for cystic hygroma in a neonate.

AnaesthesiaVolume 29, Issue 5 p. 588-594 Free Access Anaesthesia for cystic hygroma in a neonate R. M. WELLER, R. M. WELLER R. M. Weller, MB, BS, FFARCS, Senior Registrar, Department of Anaesthesia, Bristol Royal Infirmary, Bristol BS2 8HW.Search for more papers by this author R. M. WELLER, R. M. WELLER R. M. Weller, MB, BS, FFARCS, Senior Registrar, Department of Anaesthesia, Bristol Royal Infirmary, Bristol BS2 8HW.Search for more papers by this author First published: September 1974 https://doi.org/10.1111/j.1365-2044.1974.tb00724.xCitations: 9AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References 1 Macdonald, D.J.F. (1966) Cystic hygroma: an anaesthetic and surgical problem. Anaesthesia, 21, 66. 2 Wilson, J.W. & Clarke, J.C. (1955) Neonatal respiratory obstruction due to hygroma colli cysticum. Ulster Medical Journal, 24, 135. 3 Khanna, M.N. (1964) Cystic hygroma causing respiratory obstruction: report of two cases. Indian Pediatrics, 1, 458. 4 Barnhart, R.A. & Brown, A.K. Jr (1967) Cystic hygroma of the neck: report of a case. Archives of Otolaryngology, 86, 74. 5 Barrand, K.G. & Freeman, N.V. (1973) Massive infiltrating cystic hygroma of the neck in infancy. Archives of Disease in Childhood, 48, 523. 6 Keenleyside, H.B. & Greenway, R.E. (1968) Management of pre-epiglottic cysts: a report of nine cases. Canadian Medical Association Journal, 99, 645. 7 Singh, S., Baboo, M.L. & Pathak, I.C. (1971) Cystic lymphangioma in children: report of 32 cases including lesions at rare sites. Surgery, 69, 947. 8 Padfield, A. (1972) Epiglottic cysts: a case report and review. Anaesthesia, 27, 84. 9 Wernher, A. (1843) Die angeborenen Kysten Hygrome und die Ihnen verwandten Geschwülste in anatomische, diagnostische und therapeutische Beziehung, p. 76. G. F. Heyer, Giessen . 10 Goetsch, E. (1938) Hygroma colli cysticum and hygroma axillare. Archives of Surgery, 36, 394. 11 Woodring, A. J. (1968) Cervical cystic hygroma: a review of the literature and report of an unusual case. Annals of Otology, Rhinology and Laryngology, 77, 978. 12 Perzik, S. L. (1960) Early management in extensive cervical cystic hygroma and macroglossia. Archives of Surgery, 80, 460. 13 Sarason, E.L. & Roberts, F.N. (1955) Hygroma colli of the newborn infant involving the floor of the mouth. Archives of Surgery, 67, 623. 14 Kirschner, P.A. (1966) Cervicomediastinal cystic hygroma: one-stage excision in an eight-week-old infant. Surgery, 60, 1104. 15 Broomhead, I.W. (1964) Cystic hygroma of the neck. British Journal of Plastic Surgery, 17, 225. Citing Literature Volume29, Issue5September 1974Pages 588-594 ReferencesRelatedInformation

HYGROMA COLLI CYSTICUM AND HYGROMA AXILLARE

Hygroma, derived from the Greek hygros (moist) and oma (tumor), is a term which has often been used loosely to include various types of cysts containing a thin watery fluid. The designation cavernous lymphangioma has frequently been applied to the cystic form of this tumor. In a stricter sense, hygroma should be limited to multilocular cystic tumors of benign neoplastic nature which have a lymphatic origin and whose cavities are lined with true endothelium. These tumors originate, for the most part, in the neck and axilla and are then designated as hygroma colli cysticum and hygroma axillare. Occasional cases of hygroma occurring in the groin or in the retroperitoneal space have been reported. Since these cystic tumors are relatively rare, the descriptions in the literature are limited in many instances to case reports, which are often incomplete, contradictory and unsupported by records of careful pathologic examination. The manner of growth