Fetal Nuchal Cystic Hygromata: Associated Malformations and Chromosomal Defects

Azar, Ghassan; Snijders, R. J. M.; Gosden, Christine; Nicolaides, Kypros H.

doi:10.1159/000263624

Cited by 70 publications

(44 citation statements)

References 17 publications

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“…Cystic hygroma has an incidence of 1 in 1,750 live births, which is reported to rise to 1 in 200 in spontaneus abortions and 1 in 600 in low-risk pregnancies [14,15] . Among our prenatal cases, cystic hygroma was found in 18 of 3,595 (0.5%).…”

Section: Discussionmentioning

confidence: 99%

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: Discussionmentioning

confidence: 99%

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

et al. 2008

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“…Cystic hygroma (hygroma colli cysticum) can be observed in both the first and second trimesters. It can be distinguished from NT and nuchal thickening since a clearly visible image of fluid collection is seen on the ultrasound scan and, in addition, typical midline septation can also be detected [39,40] . Cystic hygroma often persists and is accompanied by aneuploidy (mainly X-monosomy), other disorders and loss of the fetus [40] .…”

Section: Cystic Hygromamentioning

confidence: 99%

Incidence of Chromosomal Abnormalities in the Presence of Fetal Subcutaneous Oedema, Such as Nuchal Oedema, Cystic Hygroma and Non-Immune Hydrops

Beke¹,

Joó²,

Csaba³

et al. 2009

Fetal Diagn Ther

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Introduction: The authors investigated the incidence of chromosomal abnormalities in subcutaneous oedema detected in the fetus by intrauterine ultrasonography. Material and Method: In the 10-year period, intrauterine karyotyping was performed in pregnancies with positive ultrasound findings for subcutaneous oedema, such as nuchal oedema, cystic hygroma and non-immune hydrops. Results: Intrauterine karyotyping in fetal subcutaneous oedema was carried out in 434 cases. The chromosomal investigation was made in nuchal oedema in 374 cases, in 120 patients the chromosomal examination was made in the first trimester because of nuchal translucency, and in 254 cases in the second trimester because of nuchal thickening. Cystic hygroma cases (27 patients), non-immune hydrops cases (20 patients), and combined cases of non-immune hydrops and cystic hygroma (13 patients) were investigated separately. In nuchal oedema, pathological karyotypes were detected in 8.33% in the first trimester and in 5.51% in the second trimester. Chromosomal abnormality was found in 48.15, 20, and 53.8% in cystic hygroma, non-immune hydrops, and combined occurrence of non-immune hydrops and cystic hygroma, respectively. Considering all of the changes accompanied by subcutaneous oedema, 50, 25 and 18.75% of the pathological karyotypes was X-monosomy, trisomy 18 and trisomy 21, respectively. Discussion: It was important to distinguish nuchal oedema and cystic hygroma, and in the case of non-immune hydrops, it was also important to discuss cases with or without cystic hygroma separately. During the investigations, cases of non-immune hydrops with or without cystic hygroma were evaluated as separate categories. Conclusions: The authors emphasize the differentiation of the various types of subcutaneous oedema and the importance of precise information about the risks, provided during genetic counselling.

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“…Infants with Turner syndrome and trisomy 21 often have excessive skin of the neck [1], Antenatally, fetuses with Turner syndrome are recognized by the presence of dorsal cervi cal, septated, cystic hygromata [2], Until now, the nuchal abnormality in fetuses with tri somy 21 has been defined as soft-tissue thick ening > 5 mm. seen in the suboccipitobregmatic view of the fetal head [3].…”

Section: Introductionmentioning

confidence: 99%

Fetal Nuchal Oedema: Associated Malformations and Chromosomal Defects

et al. 1992

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During an 8-year period, oedema in the dorsal cervical region that produces a characteristic tremor on ballotement of the fetal head (nuchal oedema) was observed in 145 (7%) of the 2,086 fetuses that underwent karyotyping in our unit because of fetal malformations and/or growth retardation. Nuchal oedema was distinguished from nuchal cystic hygromata and from hydrops foetalis. In 132 (91%) of the cases with nuchal oedema, there were other fetal malformations, and 53 (37%) fetuses had chromosomal abnormalities, mainly trisomy 21 but also other trisomies, deletions or translocations, triploidy and Turner syndrome. Furthermore, the chromosomally normal fetuses with nuchal oedema had a very poor prognosis because, in many cases, there was an underlying skeletal dysplasia, a genetic syndrome or cardiac defect.

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Fetal Nuchal Cystic Hygromata: Associated Malformations and Chromosomal Defects

Cited by 70 publications

References 17 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

Incidence of Chromosomal Abnormalities in the Presence of Fetal Subcutaneous Oedema, Such as Nuchal Oedema, Cystic Hygroma and Non-Immune Hydrops

Fetal Nuchal Oedema: Associated Malformations and Chromosomal Defects

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