Fetal cystic hygromas are congenital malformations of the lymphatic system appearing as single or multiloculated fluid-filled cavities, most often about the neck. They are thought to arise from failure of the lymphatic system to communicate with the venous system in the neck. They often progress to hydrops and cause fetal death. In an effort to delineate the cause and natural history of this disorder, we studied 15 consecutive cases of nuchal hygroma detected prenatally by ultrasound. None of the 15 fetuses ultimately survived. Thirteen fetuses were hydropic at the time of diagnosis; nine either died or were bradycardic in utero before abortion; one died a few hours after birth. Eleven fetuses (73 per cent) had karyotypes consistent with Turner's syndrome, and an additional fetus with female genitalia had a 46,XY karyotype. Three fetuses had 46,XX karyotypes, and two of these had multiple malformations. When a hygroma is detected during fetal life, careful sonographic examination of the entire fetus, determination of the fetal karyotype, and an evaluation of the family history are indicated.
Lymphatic malformation in human fetuses. A study of fetuses with Turner's syndrome or status Bonnevie-Ullrich
Nuchal translucency cannot be used as a screening test for chromosomal abnormalities in the first trimester of pregnancy in a routine ultrasound practice
In utero resolution of a fetal cystic hygroma in a male with a 46,XY karyotype and normal development at one year
The spontaneous resolution of cystic hygromas and early fetal growth delay in fetuses with trisomy 18
Nature and frequency of chromosomal abnormalities in pregnancies with abnormal ultrasound findings: an analysis of 117 cases with review of the literature
Cystic hygroma and congenital diaphragmatic hernia: early prenatal sonographic evaluation of Fryns' syndrome
Prenatal diagnosis of giant cystic hygroma: prognosis, counselling, and management; case presentation and review of the recent literature
Six years' experience with rapid karyotyping in prenatal diagnosis: correlations between phenotype detected by ultrasound and fetal karyotype
Distribution of extracellular matrix components in nuchal skin from fetuses carrying trisomy 18 and trisomy 21
Early pregnancy prenatal diagnostic testing: risks associated with chorionic villus sampling and early amniocentesis and screening options
Rapid chromosome analysis and prenatal diagnosis using fluid from the cystic hygroma, hydrothorax and isolated ascites: new source for chromosome analysis
A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients
Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks' gestation
Nuchal-fold thickening in Down syndrome fetuses: transient appearance and spontaneous resolution in the second trimester
First trimester diagnosis of cystic hygromata using transvaginal ultrasound and cytogenetic evaluation
Intradural cavernous lymphangioma of the thoracic spine: case report, technical considerations, and review of the literature
Abnormal nuchal findings on screening ultrasonography: aneuploidy stratification on the basis of ultrasonographic anomaly and gestational age at detection
Pregnancy outcome and infant follow-up of fetuses with abnormally increased first trimester nuchal translucency
Integrin-α5β1 is not required for mural cell functions during development of blood vessels but is required for lymphatic-blood vessel separation and lymphovenous valve formation
Jugular lymphatic maldevelopment in Turner syndrome and trisomy 21: different anomalies leading to nuchal edema
Analysis of cystic hygroma diagnosed in the prenatal period: 5-years' experience at a tertiary hospital in Southeastern Turkey
Enhanced visualization of soft tissues in the study of aborted fetuses through the use of xeroradiography
Using second trimester ultrasound and maternal serum biomarker data to help detect congenital heart defects in pregnancies with positive triple-marker screening results
Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the Meckel-anatomical collections at the University of Halle, Germany
Prenatal diagnosis of Turner syndrome using cells cultured from cystic hygromas in two pregnancies with normal maternal serum alpha-fetoprotein
Congenital cystic hygroma of the neck diagnosed prenatally: outcome with normal and abnormal karyotype
Identification of second trimester screen positive pregnancies at increased risk for congenital heart defects
Fetal ultrasound abnormalities: correlation with fetal karyotype, autopsy findings, and postnatal outcome--five-year prospective study
Ullrich-Turner syndrome in an XY female fetus with deletion of the sex-determining portion of the Y chromosome
Lymphedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature
Significance of cardiovascular malformations in cystic hygroma: a new interpretation of the pathogenesis
Prenatal diagnosis of a fetal chest wall cystic lymphangioma using ultrasonography and MRI: a case report with literature review
Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness
Prenatal diagnosis of sex chromosome aneuploidies and disorders of sex development--a retrospective analysis of 11-year data
Current controversies in prenatal diagnosis 3: is there still a value in a nuchal translucency screening ultrasound in conjunction with maternal plasma non-invasive cell-free DNA testing?
Congenital lymphangiectasia with fetal cystic hygroma: report of two cases with coexistent Down's syndrome
Cystic Lymphangioma of the Chest Wall in a 5-Year-Old Male Patient: A Rare and Atypical Localization-A Case Report and Comprehensive Review of the Literature
Genetic Burden and Outcome of Cystic Hygromas Detected Antenatally: Results of 93 Pregnancies from a Single Center in the Northern Region of Turkey
Disappearance of enlarged nuchal translucency before 14 weeks' gestation: relationship with chromosomal abnormalities and pregnancy outcome
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting
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