The Experts below are selected from a list of 2040 Experts worldwide ranked by ideXlab platform
John M. Thorp - One of the best experts on this subject based on the ideXlab platform.
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Familial Cystic Hygroma with normal karyotype.
Prenatal Diagnosis, 2005Co-Authors: William J. Watson, John M. Thorp, John W. SeedsAbstract:: A patient is described who had three consecutive fetuses with Cystic Hygroma and hydrops, two of which had documentation of normal karyotype. Some twenty percent of fetuses with Cystic Hygroma have a normal karyotype, and many of these have other major malformations. An autosomal recessive pattern of inheritance has been postulated, but Cystic Hygroma may also occur in association with a variety of syndromes, some of which have other patterns of inheritance.
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Spontaneous resolution of fetal nuchal Cystic Hygroma.
Journal of Perinatology, 1991Co-Authors: William J. Watson, Katz Vl, John M. ThorpAbstract:: Complete resolution of the Hygroma occurred in two fetuses with the mid-trimester ultrasound diagnosis of a nuchal Cystic Hygroma. Cytogenetic studies showed a normal 46,XX karyotype in one fetus, and a 47,XX, +18 in the other. Complete regression of Cystic Hygroma has been reported in fetuses with normal chromosomes, as well as in those with trisomy 21, and with Turner's syndrome. The incidence of spontaneous in utero resolution of fetal nuchal Cystic Hygroma is unknown. The natural history of Cystic Hygroma in utero cannot be correlated with the chromosome complement. An antenatal karyotype determination should be offered to any patient whose fetus has Cystic Hygroma, even to those with spontaneous resolution.
William J. Watson - One of the best experts on this subject based on the ideXlab platform.
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Familial Cystic Hygroma with normal karyotype.
Prenatal Diagnosis, 2005Co-Authors: William J. Watson, John M. Thorp, John W. SeedsAbstract:: A patient is described who had three consecutive fetuses with Cystic Hygroma and hydrops, two of which had documentation of normal karyotype. Some twenty percent of fetuses with Cystic Hygroma have a normal karyotype, and many of these have other major malformations. An autosomal recessive pattern of inheritance has been postulated, but Cystic Hygroma may also occur in association with a variety of syndromes, some of which have other patterns of inheritance.
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Spontaneous resolution of fetal nuchal Cystic Hygroma.
Journal of Perinatology, 1991Co-Authors: William J. Watson, Katz Vl, John M. ThorpAbstract:: Complete resolution of the Hygroma occurred in two fetuses with the mid-trimester ultrasound diagnosis of a nuchal Cystic Hygroma. Cytogenetic studies showed a normal 46,XX karyotype in one fetus, and a 47,XX, +18 in the other. Complete regression of Cystic Hygroma has been reported in fetuses with normal chromosomes, as well as in those with trisomy 21, and with Turner's syndrome. The incidence of spontaneous in utero resolution of fetal nuchal Cystic Hygroma is unknown. The natural history of Cystic Hygroma in utero cannot be correlated with the chromosome complement. An antenatal karyotype determination should be offered to any patient whose fetus has Cystic Hygroma, even to those with spontaneous resolution.
Barbara M Nies - One of the best experts on this subject based on the ideXlab platform.
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Cystic Hygroma and congenital diaphragmatic hernia early prenatal sonographic evaluation of fryns syndrome
Prenatal Diagnosis, 1992Co-Authors: Dorothy I Bulas, Howard M Saal, Jill Fonda Allen, Sudesh Kapur, Barbara M NiesAbstract:: We report a case of Cystic Hygroma and diffuse lymphangiectasia detected by sonogram at 12 weeks' gestation. Fetal karyotype was normal. At 20 weeks' gestation, herniation of the bowel into the chest was noted. At delivery, the infant was diagnosed as having Fryns' syndrome. This is the first reported case of Fryns' syndrome presenting with Cystic Hygroma.
Ilan E Timortritsch - One of the best experts on this subject based on the ideXlab platform.
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first trimester septated Cystic Hygroma prevalence natural history and pediatric outcome
Obstetrics & Gynecology, 2005Co-Authors: Fergal D Malone, Robert H Ball, David A Nyberg, Christine H Comstock, George R Saade, Richard L Berkowitz, Susan J Gross, Lorraine Dugoff, Sabrina D Craigo, Ilan E TimortritschAbstract:OBJECTIVE: To estimate prevalence, natural history, and outcome of septated Cystic Hygroma in the first trimester in the general obstetric population, and to differentiate this finding from simple increased nuchal translucency. METHODS: Patients at 10.3-13.6 weeks of gestation underwent nuchal translucency sonography as part of a multicenter clinical trial. Septated Cystic Hygroma cases were offered chorionic villi sampling for karyotype, and targeted fetal anatomical and cardiac evaluations. Survivors were followed up for fetal and long-term pediatric outcome (median 25 months, range 12-50 months). Cases of septated Cystic Hygroma were also compared with cases of simple increased nuchal translucency. RESULTS: There were 134 cases of Cystic Hygroma (2 lost to follow-up) among 38,167 screened patients (1 in 285). Chromosomal abnormalities were diagnosed in 67 (51%), including 25 trisomy-21, 19 Turner syndrome, 13 trisomy-18, and 10 others. Major structural fetal malformations (primarily cardiac and skeletal) were diagnosed in 22 of the remaining 65 cases (34%). There were 5 cases (8%) of fetal death and 15 cases of elective pregnancy termination without evidence of abnormality. One of 23 (4%) normal survivors was diagnosed with cerebral palsy and developmental delay. Overall, survival with normal pediatric outcome was confirmed in 17% of cases (22 of 132). Compared with simple increased nuchal translucency, Cystic Hygroma has 5-fold, 12-fold, and 6-fold increased risk of aneuploidy, cardiac malformation, and perinatal death, respectively. CONCLUSION: First-trimester Cystic Hygroma was a frequent finding in a general obstetric screening program. It has the strongest prenatal association with aneuploidy described to date, with significantly worse outcome compared with simple increased nuchal translucency. Most pregnancies with normal evaluation at the completion of the second trimester resulted in a healthy infant with a normal pediatric outcome.
Katz Vl - One of the best experts on this subject based on the ideXlab platform.
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Spontaneous resolution of fetal nuchal Cystic Hygroma.
Journal of Perinatology, 1991Co-Authors: William J. Watson, Katz Vl, John M. ThorpAbstract:: Complete resolution of the Hygroma occurred in two fetuses with the mid-trimester ultrasound diagnosis of a nuchal Cystic Hygroma. Cytogenetic studies showed a normal 46,XX karyotype in one fetus, and a 47,XX, +18 in the other. Complete regression of Cystic Hygroma has been reported in fetuses with normal chromosomes, as well as in those with trisomy 21, and with Turner's syndrome. The incidence of spontaneous in utero resolution of fetal nuchal Cystic Hygroma is unknown. The natural history of Cystic Hygroma in utero cannot be correlated with the chromosome complement. An antenatal karyotype determination should be offered to any patient whose fetus has Cystic Hygroma, even to those with spontaneous resolution.
