Hyperclarté nucale et hygroma cervical au premier trimestre de la grossesse : diagnostic prénatal et devenir néonatal

Ducarme, Guillaume; Graesslin, Olivier; Alanio, E.; Bige, V.; Gaillard, Dominique; Gábriel, Róbert

doi:10.1016/j.gyobfe.2005.07.031

Cited by 18 publications

(6 citation statements)

References 27 publications

(47 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Similar to the literature data, this study shows a high rate of aneuploidy among fetuses with CH. The incidence of abnormal karyotype in our series (58%) is relatively higher than many previous reports[8914] but similar to some others. [1516] Few reports were with higher rates.…”

Section: Discussionsupporting

confidence: 88%

Genetic burden and outcome of cystic hygromas detected antenatally: Results of 93 pregnancies from a single center in the Northern Region of Turkey

et al. 2019

View full text Add to dashboard Cite

Objective:Genetic burden, fetal malformations, and fetal outcomes of 93 fetuses with cystic hygroma (CH) are reported from a single center in Turkey.Patients and Methods:Pregnancies, having a diagnosis of fetal CH, detected between January 2010 and October 2016, were included in the study except fetuses having increased nuchal translucency. Fetal age/gender, maternal age, the age of pregnancy, types of fetal malformations, karyotype, and outcomes were evaluated.Results:The average gestational age was 16.2 weeks. Nearly 47% of the pregnancies had multiple congenital anomalies, of which 58% had a chromosomal anomaly. Chromosomal anomaly rate was 68.2% in patients with hydrops fetalis. Aneuploidies were major chromosomal defects. All trisomies were of regular type except one with Robertsonian translocation (46, XY, +13, rob[13;14][q10;q10]). Seventy-four percentage pregnancies were terminated due to either fetal/karyotype anomaly.Conclusion:Characteristics of fetal CH were similar in different ethnical backgrounds. Aneuploidy is the dominant chromosomal constitution of fetal CH. Little information was known about the genes involved. Gene dosage effect implies that fetal CH is a complex genetic situation involving multiple genes interactions. For proper genetic counseling, each fetus with CH should be karyotyped, and fetal ultrasound examination should be performed. In the case of normal chromosome set, application of aCGH should be considered.

show abstract

Section: Discussionsupporting

confidence: 88%

Genetic burden and outcome of cystic hygromas detected antenatally: Results of 93 pregnancies from a single center in the Northern Region of Turkey

et al. 2019

View full text Add to dashboard Cite

show abstract

“…[7,22] In a study conducted in this regard and belonging to patients with a CH diagnosis, 55% of the 40 patients had karyotype anomalies; 40% of these patients had Turner syndrome and 14% had Trisomy 21. [23] In In CH patients, fetal outcomes and parameters affecting fetal karyotype are the most curious topics. In studies conducted on this subject, CH septation, NT thickness, and presence of accompanying anomalies are the most discussed parameters.…”

Section: Discussionmentioning

confidence: 99%

“…[8] In another study on this subject comparing the pregnancy outcomes of patients with isolated increased NT and patients diagnosed with CH, the pregnancy outcomes of CH patients were determined to be poorer. [23] Another previous study reported that there was a potential error rate of approximately 70% in cases with CH diagnosis in the prenatal period. Therefore, it is necessary to be very careful and attentive when diagnosing CH.…”

Section: H I S a R T I C L E H A S B E E N R E T R A C T E D D U E T mentioning

confidence: 97%

Retrospective Evaluation of the Effect of NT Thickness and Septation Presence on Karyotype Anomalies in Cystic Hygroma Patients

Erkayıran

Köstü

Serin³

et al. 2017

EJMO

View full text Add to dashboard Cite

F etal nuchal cystic hygroma (CH) is a very rare disease. The incidence of CH is between 1/1000 and 1/6000, and it is a rare malformation that occurs in the vascular and lymphatic systems. [1] CH was first defined by Redenbacher in 1828. [2] In CH, the etiology is not clearly understood, but it is known to be not neoplastic. [3] CH is frequently seen in the nape region. [4] However, 5% cases with CH may occur in the axillary, mediastinum, abdomen, and retroperitone-al mesenteric regions. [5] CH usually begins to develop after the sixth week of gestation. It is likely to be diagnosed in the routine ultrasound (USG) examination during the first trimester of pregnancy. [6] However, the ultrasonographic diagnosis of CH is usually made at the end of the first trimester and at the beginning of the second trimester. [7, 8] It is known that fetal outcomes are poor in the presence of CH. [9] However, when the long-term prognosis of live

show abstract

“…Pour certains, la définition de l'hygroma kystique impose la présence de cloisons sagittales ; pour d'autres, cet élément n'est pas indispensable [4]. Robert Aly-Abbara décrit 50-80 % des aneuploïdies associés à l'hygroma kystique cervical.…”

Section: Discussionunclassified

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

Steve¹,

Jc²,

M³

et al. 2016

IOSR

View full text Add to dashboard Cite

Hyperclarté nucale et hygroma cervical au premier trimestre de la grossesse : diagnostic prénatal et devenir néonatal

Cited by 18 publications

References 27 publications

Genetic burden and outcome of cystic hygromas detected antenatally: Results of 93 pregnancies from a single center in the Northern Region of Turkey

Genetic burden and outcome of cystic hygromas detected antenatally: Results of 93 pregnancies from a single center in the Northern Region of Turkey

Retrospective Evaluation of the Effect of NT Thickness and Septation Presence on Karyotype Anomalies in Cystic Hygroma Patients

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

Contact Info

Product

Resources

About