Podobnik Petra, Meštrović Tomislav, Podobnik Mario, Lončar Igor, Bertović-Žunec Ivan, Kurdija Kristian, Jelčić Dženis, Srebreniković Zlata, Podobnik-Šarkanji Slava
Department of Obstetrics and Gynaecology, University Hospital Merkur, Zajčeva 19, 10000 Zagreb, Croatia.
Department of Obstetrics and Gynaecology, Podobnik Special Hospital, Ul. Sveti Duh 112, 10000 Zagreb, Croatia.
Genes (Basel). 2025 Aug 20;16(8):980. doi: 10.3390/genes16080980.
BACKGROUND/OBJECTIVES: Cystic hygroma is a congenital lymphatic malformation often identified during early pregnancy and frequently associated with chromosomal abnormalities and adverse outcomes. We aimed to appraise the genetic and clinical characteristics of fetuses diagnosed with cystic hygroma in the first/early second trimester, assess the resolution patterns in chromosomally normal cases, and provide insights into prognosis-based on data collected over a 30-year period.
A retrospective cohort study was conducted on 405 consecutive fetuses diagnosed with nuchal cystic hygroma between 8.0 and 14.0 weeks of gestation from 1993 to 2023 at two tertiary care centers. Diagnoses were established using high-resolution transabdominal and transvaginal 3D/4D ultrasonography. All cases underwent prenatal cytogenetic analysis, including karyotyping. Fetuses with a normal karyotype were observed through serial ultrasounds through the remainder of the pregnancy to verify the eventual resolution of hygromas. Both descriptive and inferential statistical methods were used, with < 0.05 as a cut-off (two-tailed).
Of the 405 fetuses, 210 (51.9%) had chromosomal abnormalities, most commonly trisomy 21, while 195 (48.1%) had a normal karyotype. A significantly higher frequency of trisomy 21 was observed compared to other identified chromosomal abnormalities ( < 0.001). In the chromosomally normal group, 85 (43.6%) showed spontaneous resolution of the hygroma within four weeks, and these pregnancies resulted in phenotypically normal live births. Septated hygromas were significantly more frequent in the abnormal karyotype group (71.4%).
The finding and diagnosis of cystic hygroma in first trimester and early second-trimester pregnancy represent a strong predictor of chromosomal aneuploidy and warrant comprehensive prenatal genetic testing and close follow-up. However, in the absence of genetic abnormalities and additional malformations, spontaneous resolution is common, and neonatal outcomes are generally favorable. Health systems should provide equitable access to genetic testing and fetal imaging to support accurate diagnosis and informed decisions.
背景/目的：颈部水囊瘤是一种先天性淋巴管畸形，常在孕早期被发现，且常与染色体异常及不良结局相关。我们旨在评估孕早期/孕中期诊断为颈部水囊瘤的胎儿的遗传和临床特征，评估染色体正常病例的消退模式，并基于30年期间收集的数据对预后提供见解。
对1993年至2023年期间在两家三级医疗中心连续诊断为颈部囊性水囊瘤的405例妊娠8.0至14.0周的胎儿进行了一项回顾性队列研究。诊断采用高分辨率经腹和经阴道三维/四维超声检查。所有病例均接受了包括核型分析在内的产前细胞遗传学分析。对核型正常的胎儿在妊娠剩余时间通过系列超声检查观察水囊瘤是否最终消退。采用描述性和推断性统计方法，以P<0.05为界值（双侧）。
405例胎儿中，210例（51.9%）有染色体异常，最常见的是21三体，而195例（48.1%）核型正常。与其他已确定的染色体异常相比，21三体的发生率显著更高（P<0.001）。在染色体正常组中，85例（43.6%）在四周内水囊瘤自发消退，这些妊娠分娩出表型正常的活产儿。分隔性水囊瘤在核型异常组中显著更常见（71.4%）。
孕早期和孕中期颈部水囊瘤的发现和诊断是染色体非整倍体的有力预测指标，需要进行全面的产前基因检测和密切随访。然而，在没有基因异常和其他畸形的情况下，自发消退很常见，新生儿结局通常良好。卫生系统应提供公平的基因检测和胎儿影像学检查机会，以支持准确诊断和明智决策。
