Prenatal management, pregnancy and pediatric outcomes in fetuses with septated cystic hygroma

Abstract

It has been reported that, compared with simple increased nuchal translucency, fetal cases with septated cystic hygroma (CH) are more likely to face perinatal handicaps. However, pediatric outcomes and proper prenatal counseling for this anomaly have not yet been truly defined. We performed this study to determine pregnancy and pediatric outcomes of fetuses with septated CH. We searched records for cases with septated CH and collected data for structural abnormalities, karyotype analysis, and pregnancy outcomes. Fetuses born with septated CH were also evaluated for their pediatric outcomes. Sixty-nine fetuses with septated CH were enrolled in the study. Results showed that chromosomal abnormalities were present in 28 fetuses (40.6%), and the most common aneuploidy was Turner syndrome (n=14, 20.3%); 16 (23.2%) of the remaining cases, in which aneuploidy was not found, had coexistent structural malformations; 25 (36.2%) cases had normal karyotype and morphology. The total number of live births and infants with unfavorable neurologic follow-up were 13 (18.8%) and 2 (2.9%), respectively. Septated CH is associated with poor perinatal outcomes; therefore, karyotype analysis and ultrasonographic anomaly screening should be performed as initial steps, and expectant management should be offered to couples with euploid fetuses that have normal morphology.

Analysis of cystic hygroma diagnosed in the first trimester: Single-center experience

“…We think our findings may be helpful to physicians providing parental counseling for women who refuse karyotype analysis. In fetuses with cystic hygroma with normal karyotype and in whom no structural malformations are present, pregnancy outcomes may be favorable as reported in the literature (5).…”

“…Similarly, Sanhal et al (5) reported that 90% of fetuses (euploid Other than fetal karyotyping, chromosomal microarray analysis (CMA) is an advanced technology with the ability to survey the entire genome and to identify chromosomal abnormalities, submicroscopic genomic alterations. Increased nuchal translucency and cystic hygroma are associated with different conditions, aneuploidy and structural abnormalities.…”

“…Previous studies reported poorer perinatal outcomes in pregnancies with fetal cystic hygroma and associated aneuploidy (5,6). We conducted this retrospective study to evaluate the pregnancy outcomes of fetuses with cystic hygroma either with normal karyotype or with no karyotype analysis in the prenatal period.…”

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

“…[12,13] Turner syndrome and Down syndrome have been found to be the most common karyotype abnormalities in different case series in CH cases. [13,14] In this large-scale case study, aneuploidy was detected in 54% of 729 cases and major congenital anomaly was observed in 28% of patients with normal karyotypes. [15] In literature, two important parameters, CH septation and nuchal translucency, are mentioned and if they affect the rate of karyotype anomalies and fetal outcomes in CH patients.…”

“…The first one is whether or not CH is septation and the second one is nuchal thickness. [14,15] In this study; we retrospectively analyzed our patients who were referred to our clinic with CH at the first or second trimester of pregnancy and whose CH was detected and karyotype analysis was performed. We evaluated these fetuses separately in terms of NT and septation.…”