Characteristics and outcome of fetal cystic hygroma diagnosed in the first trimester

Graesslin, Olivier; Derniaux, E.; Alanio, E.; Gaillard, Dominique; Vitry, Fabien; Quereux, C.; Ducarme, Guillaume

doi:10.1080/00016340701644843

Cited by 59 publications

(47 citation statements)

References 27 publications

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“…It was reported that chromosomal abnormalities were present in 55% (22 of 40) in the cystic hygroma group, with 9 of 22 (40.9%) of Turner syndrome cases [16] . The aneuploidy rate in our cystic hygroma patients (72.2%) was higher than those in other studies, and ranged from 51 to 61% [17][18][19][20] . In addition to Turner syndrome, cystic hygroma is reported to be associated with other aneuploidies such as trisomy 21, 13 and 18 [21] .…”

Section: Discussioncontrasting

confidence: 47%

Prenatally Diagnosed Turner Syndrome and Cystic Hygroma: Incidence and Reasons for Referrals

et al. 2008

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Objective: The objective of this study was to evaluate the incidence and reasons for referrals for prenatally detected Turner syndrome and cystic hygroma cases among prenatal cases performed between 1998 and 2007. Methods: In this study 3,595 amniocentesis, chorionic villus and cordocenthesis materials obtained between 1998 and 2007 were evaluated. Among prenatal cases, 23 Turner syndrome cases were also evaluated according to their referral reasons. Among the indications of prenatal cases, cystic hygroma was evaluated according to karyotype results. Results: Twenty-three cases were Turner Syndrome in which 7 cases were detected to have mosaic pattern. The indications for prenatal diagnosis for the cases were cystic hygroma in 11 cases, missed abortion in 6 cases, advanced maternal age in 5 cases and positive screening test results in 1 case. Among 18 cases having cystic hygroma detected by ultrasonography, 8 cases (44.4%) were found to have a 45,X karyotype, 3 cases were found to be mosaic Turner syndrome (16.7%), 5 cases (27.7%) had normal karyotype, 1 case (5.6%) 47,XX,+13 and 1 case (5.6%) 47,XX,+21. Conclusion: The present study indicates the importance of cystic hygroma in prenatal diagnosis of Turner Syndrome and other aneuploidies.

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Section: Discussioncontrasting

confidence: 47%

Prenatally Diagnosed Turner Syndrome and Cystic Hygroma: Incidence and Reasons for Referrals

et al. 2008

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“…Jaques S. et al dans une étude menée à Virginia hospital, portant sur les hygromas kystiques congénitaux cervical observent qu'il n'y avait pas de survivants néonatals dans le groupe avec caryotype anormal et que deux à trois pourcent de nouveau-nés étaient normaux lorsque le diagnostic de l'hygroma kystique était fait in utéro [7]. Graesslin et al, constatent que le sex-ratio apparaissait en défaveur des foetus de sexe féminin et l'issue était défavorable (fausse couche, interruption volontaire, des anomalies structurelles graves) dans 77,7% des cas (56/72) [8].…”

Section: Discussionunclassified

Hygroma Kystique Cervical De Découverte Échographique À Lubumbashi : Caractéristique Échographique Et Issue De La Grossesse

Steve¹,

Jc²,

M³

et al. 2016

IOSR

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“…The presence of increased nuchal translucency thickness in chromosomally normal fetuses has been found in association with cardiac and cerebellar anomalies in isolation, and also in fetuses later identified with a variety of genetic syndromes [7][8][9][10][11] . The cause of the increased nuchal translucency in any of the above-mentioned situations is poorly understood.…”

Section: Discussionmentioning

confidence: 99%

“…A number of studies have looked at the pregnancy outcome in chromosomally normal fetuses with increased first-trimester nuchal translucency and found fetuses with a variety of structural anomalies and genetic syndromes [7][8][9][10][11] . To our knowledge, first-trimester ultrasound has not been previously reported as useful in the prenatal diagnosis of RSS.…”

Section: Introductionmentioning

confidence: 99%

Increased Nuchal Translucency Thickness: A Potential Indicator for Ritscher-Schinzel Syndrome

Rusnak

Hadfield²,

Chudley³

et al. 2008

Fetal Diagn Ther

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Objective: The Ritscher-Schinzel syndrome (RSS), also known as the 3C syndrome, is an autosomal recessive disorder classically comprising craniofacial, cerebellar and cardiac defects. The underlying molecular etiology remains unknown; therefore, prenatal diagnosis of recurrences depends on identification of the associated structural anomalies on second trimester ultrasound examination. Identification of recurrences using first-trimester ultrasound has not been reported previously. Methods: Two women who presented at our center with fetal nuchal abnormalities on first trimester ultrasound went on to have children with RSS. One of the women had also undergone a previous pregnancy termination for fetal anomalies consistent with RSS. The ultrasound findings and details of these 3 cases were reviewed. Results: Both cases of RSS and the third suspected case were found to have nuchal abnormalities on first-trimester scan. All went on to develop malformations consistent with RSS detectable on second-trimester ultrasound. The later 2 cases continued to term and the children had facial characteristics consistent with RSS. Conclusion: First-trimester ultrasound assessment of nuchal translucency could be considered as a method for identifying sib recurrences of RSS. In addition, RSS should be on the differential diagnosis when increased nuchal translucency is seen on first-trimester scan.

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Characteristics and outcome of fetal cystic hygroma diagnosed in the first trimester

Abstract: These data suggest that the prognosis of fetal cystic hygroma detected during the first trimester is poor, and show that sonographic evaluation of fetal nuchal translucency thickness in the first trimester is crucial.

Cited by 59 publications

References 27 publications

Prenatally Diagnosed Turner Syndrome and Cystic Hygroma: Incidence and Reasons for Referrals

Prenatally Diagnosed Turner Syndrome and Cystic Hygroma: Incidence and Reasons for Referrals

Hygroma Kystique Cervical De Découverte Échographique À Lubumbashi : Caractéristique Échographique Et Issue De La Grossesse

Increased Nuchal Translucency Thickness: A Potential Indicator for Ritscher-Schinzel Syndrome

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