Cystic hygromata in trisomy 18 and 21

Pearce, J. M.; Griffin, David Ray; Campbell, Stuart

doi:10.1002/pd.1970040508

Cited by 41 publications

(12 citation statements)

References 8 publications

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“…defects (18); cystic hygromas, lymphangiectasia, or nuchal thickening (9); prominent or enlarged cisterna magna (9); meningomyelocele (8); single umbilical artery (7); omphalocele (10); renal abnormalities (7); clubfeet (11); and clenched hands (9). IUGR was the single most common abnormality, found in 51 % (24 of 47) of all fetuses in this study.…”

Section: Resultsmentioning

confidence: 99%

“…Our results are in agreement with those of Dicke and Crane, 21 who reported so nographic evidence for growth retardation in 59% of fetuses with trisomy 18, and who also noted that IUGR may initially become evident during the second trimester but is more apparent during the third trimester. The combination of IUGR with polyhy· dramnios is particularly worrisome as a potential sign of an underlying chromosome abnormality2 7 and was found in 21% of fetuses with trisomy 18 in this study. These findings suggest that early-onset growth retardation or IUGR in combination with polyhydramnios should lead the clinician to obtain a chromosome analysis.…”

Section: Nyberg Et Al 111mentioning

confidence: 87%

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Prenatal sonographic findings of trisomy 18: review of 47 cases

Nyberg

Kramer

Resta

et al. 1993

Journal of Ultrasound in Medicine

122

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Prenatal sonographic findings were reviewed in 47 consecutive fetuses with trisomy 18. One or more abnormalities, excluding choroid plexus cysts, were found in 39 fetuses (83%), including 21 of 29 (72%) fetuses examined between 14 and 24 weeks and all 18 (100%) fetuses examined after 24 weeks. Abnormalities most frequently detected before 24 weeks in· eluded cystic hygromas, nuchal thickening, and mea ningomyelocele. Intrauterine growth retardation, cardiac defects, and an enlarged cisterna magna were detected more frequently after 24 weeks than before 24 weeks (P < 0.05). Intrauterine growth retardation was the single most common abnormality, detected in 51 % of all fetuses and 89% of fetuses examined after 24 weeks. Choroid plexus cysts were identified A wide variety of pathologic and sonographic abnormalities have been associated with trisomy 18.

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Section: Resultsmentioning

confidence: 99%

Section: Nyberg Et Al 111mentioning

confidence: 87%

Prenatal sonographic findings of trisomy 18: review of 47 cases

Nyberg

Kramer

Resta

et al. 1993

Journal of Ultrasound in Medicine

122

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“…The general population has an incidence of Down syndrome of 1: 660, and i t is even lower in women under 30 years of age (1:1500). A lower incidence will not affect the stable properties of sensitivity and specificity but will result in a lower positive predictive value (Toi et al, 1987 (Pearce et al, 1984).…”

Section: Increase In Nuchal Skin Thicknessmentioning

confidence: 99%

Genetic control of the survival of murine trisomy 16 fetuses

Epstein

Vekemans

1990

Teratology

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A mouse model that allows for the experimental induction of an aneuploid state has been employed to invest "Lgate the factors that control the survi" a~" of trisomy 16 fet.uses. The prevalence of trisomy 16 fetuses on day 15 of gestation was shown to vary significantly with the genetic background of the female parent.The ability to spontaneously abort a trisomy 16 conceptus was shawn to be higher in the mouse strain with a low prevalence of trisomy 16, compared to those mouse strains wi th a high prevalence of trisomy 16. Furthermore, the maternaI ability that selects against, or promotes the survival of a trisomie conceptus was shown to be specifie for the trisomy in question.

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“…To integrate the findings of the present study and the descriptions in the literature, a pathogenesis is hypothesized in INTRODUCTION Cystic hyrgoma of the neck is a congenital malformation with cystic dilatation of the lymphatic system often progressing to hydrops fetalis [Chervenak et al, 19831. After an observation of aborted 45,X fetuses by Singh and Carr [1966], cystic hygromas of the neck were thought to be an intrauterine manifestation of the web neck in Ullrich-Turner syndrome (UTS). With the recent technical progress of prenatal detection by ultrasonography, cystic hyrgromas have been reported in many other aneuploids such as trisomy 13 [Greenberg et al, 19 83;Nakazato et al, 19853, trisomy 18, trisomy 21 [Pearce et al, 1984;Redford et al, 19841, dup(l1p) [Fryns et al, 19851; in polyploidy 90,XX [Fryns et al, 19871; and single gene disorders such as Noonan syndrome [Witt et al, 19871 and Robert syndrome [Graham et al, 19831 have been reported. Similar lesions were recently confirmed in mice with chromosome abnormality [Miyabara, 19891. These reports of human cases provided a chance to consider the cause, natural history, and significance of this abnormality [Chervenak et al, 1983;Byrne et al, 19841.…”

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confidence: 99%

Significance of cardiovascular malformations in cystic hygroma: A new interpretation of the pathogenesis

et al. 1989

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Fetuses with cystic hygroma or loose skin of the neck were studied chromosomally and phenotypically to clarify the relation between neck abnormality and cardiovascular malformations. Of 12 fetuses, 9 had chromosome abnormalities: 4 with 45,X, 3 with trisomy 21, one each with trisomy 13, dup 6q. One had normal chromosomes. Two cases, in which chromosome analysis was unsuccessful, were morphologically suspected to be trisomy 13. Nine of the 12 fetuses had either bilateral cystic hygroma of the neck (7 cases) or nuchal bleb (2 cases: trisomy 13 and dup 6q). Two of the 3 remaining cases (trisomy 21) had loose skin of the neck, and one had edematous swelling of the skin of the neck. Except for the last case of trisomy 21, 11 fetuses (91.7%) had severe and/or rare cardiovascular malformations. They were divided into 3 major groups: a) spectrum of hypoplastic left heart syndrome (45,X and dup 6q), b) double outlet right ventricle, agenesis of semilunar valve (trisomy 13), and c) abnormality of atrioventricular orifice or valves (trisomy 21). One fetus with normal chromosomes had persistent left superior vena cava instead of absent right one and calcification of myocardium. Histological observation of edematous skin demonstrated the abnormal distribution of lymph vessels, including their absence. Some cases showed hypoplastic thymus. To integrate the findings of the present study and the descriptions in the literature, a pathogenesis is hypothesized in relation to migration of neural crest cells and extracellular matrix.

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Cystic hygromata in trisomy 18 and 21

Cited by 41 publications

References 8 publications

Prenatal sonographic findings of trisomy 18: review of 47 cases

Prenatal sonographic findings of trisomy 18: review of 47 cases

Genetic control of the survival of murine trisomy 16 fetuses

Significance of cardiovascular malformations in cystic hygroma: A new interpretation of the pathogenesis

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