Hygroma Colli Cysticum: Prenatal Diagnosis and Prognosis

Abstract

The objective of this study is to analyze the prenatal management and prognostic factors of hygroma colli cysticum by using cytogenetic tests and sonographic morphological features. All cases with hygroma colli cysticum diagnosed and managed at our Prenatal Diagnostics Unit between January 96 and September 2000 were analyzed. Sonographic morphological features were divided in two groups; nonseptated (n = 18) and septated (n = 12) hygroma colli cysticum lesions were compared with fetal karyotype results and pregnancy outcome data. Statistical analysis was performed by Chi-square test and statistical significance was defined as p <0.05. In 5 years, 30 cases with hygroma colli cysticum were identified. Cytogenetic results were obtained from 23 (76.7%) cases (four chorionic villus sampling and 19 amniocentesis). Chromosomal abnormalities were present in 13 cases (56.5%). The most common chromosomal abnormality was Turner Syndrome (four cases, 17.4%) and Trisomy 18 (four cases, 17.4%). Pregnancy outcome data were available for 29 patients. Those fetuses with septated hygroma colli cysticum tended to have a worse fetal outcome, without statistical significance (p >0.05), compared with the nonseptated hygroma colli cysticum cases (75 vs. 61.1%, respectively). Fetal hygroma colli cysticum, either septated or not, carries high risks of aneuploidies and adverse fetal outcome. Recommended management includes karyotyping and if parents decide to continue the pregnancy ultrasound scan at 20 to 22 weeks' gestation is necessary, for excluding associated anomalies. At birth, if the cystic hygroma persists, it should be noted that a respiratory difficulty can happen and a pediatrician should standby as a precaution.

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

“…D'autres auteurs trouvent le même taux d'aneuploïdie. Cependant, notent des répartitions un peu différentes : taux plus élevé de Trisomie que de monosomie X [9,10]. Harold et al dans une étude observationnelle constatent que deux tiers des hygromas kystiques étaient associés à une aneuploïdie [6].…”

“…1d). Signalons que l'hydrops foetal a été fréquemment retrouvé dans 45 % (33 à 75%) des cas en moyenne avec un très mauvais pronostic [9,10] [5] L'hypoplasie des os propres du nez (OPN) au 2 e trimestre de la grossesse est un signe positif dans le cadre du dépistage de la trisomie 21, et également si le rapport (BIP/OPN) est supérieur à 11. Un tiers des foetus trisomiques 21 ont une hypoplasie unilatérale de l'OPN [2].…”

Cystic hygroma with hydrops fetalis: a rare case report

“…When hydrops is present alongwith cystic hygroma, the mortality rate is near 100%. 15 The risk of recurrence of cystic hygroma associated with chromosomal abnormalities is around 1%.…”

Intrauterine Therapy for the Acutely Enlarging Fetal Cystic Hygroma

“…Obstruction of the lymphatics leads to enlargement of the cyst, most commonly found in the posterior neck. Fetuses with cystic hygroma frequently suffer from other complications such as chromosomal abnormalities, fetal hydrops, and other structural malformations and tend to have poor outcomes [1][2][3][4]. However, recent investigations suggest that cases without these complications have a sufficient potential for intact survival [3,5].…”