Department of Perinatology, University of Health Sciences Etlik Zübeyde Hanım Women's Health Care, Training and Research Hospital, Ankara, Turkey -
Department of Perinatology, University of Health Sciences Etlik Zübeyde Hanım Women's Health Care, Training and Research Hospital, Ankara, Turkey.
Minerva Obstet Gynecol. 2023 Apr;75(2):87-92. doi: 10.23736/S2724-606X.21.04917-4.
Omphalocele is associated with many aneuploidies, deletions and congenital anomalies. This study evaluates pregnancies diagnosed with omphalocele and its relevance to concomitant genetic disorders.
The data of patients with the intrauterine diagnosis of omphalocele who had invasive diagnostic testing performed between January 2017 and January 2020 were evaluated retrospectively. The traditional karyotype analysis was performed to prenatal diagnosis for all fetuses. During the study period, all patients were scanned via ultrasonography by an experienced perinatologist, prenatally.
We evaluated 22 cases of omphalocele whose genetic testing results were available. The mean maternal age was 25 (18-41) years. The median gestational week at diagnosis was 13 (11-22). Invasive genetic testing revealed aneuploidy in 7 patients (31.8%), 2 with trisomy 13 (9.1%), and 5 with trisomy 18 (22.8%). There were 5 fetuses (22.7%) that had extracorporeal liver: 1 had trisomy 18 (20%), 1 had trisomy 13 (20%), and the other 3 fetuses had a normal karyotype (60%). Further, 14 (63.6%) pregnancies were terminated: 4 had trisomy 18 (28.6%), 1 had trisomy 13 (7.1%), and 9 of the terminated pregnancies (64.3%) had additional congenital anomalies. There were 4 infants who died (50%) born from 8 patients who decided to continue with their pregnancy. The omphalocele sac of 1 infant spontaneously regressed in the ensuing weeks of pregnancy who is now 1 year old.
The chromosomal abnormalities presented in up to 31.8% of cases diagnosed with omphalocele. Moreover, for cases with normal genetic testing results, the propensity for additional structural defects was high and the prognosis remains poor. Counseling parents to consider their option of terminating the pregnancy is appropriate.
脐膨出与许多非整倍体、缺失和先天性异常有关。本研究评估了诊断为脐膨出的妊娠病例及其与并发遗传疾病的关系。
回顾性评估了 2017 年 1 月至 2020 年 1 月期间接受宫内脐膨出诊断并进行有创性诊断检测的患者数据。对所有胎儿进行传统核型分析进行产前诊断。在研究期间，所有患者均由一名经验丰富的围产医生进行超声扫描。
我们评估了 22 例脐膨出病例，其遗传检测结果可用。平均母亲年龄为 25 岁（18-41 岁）。诊断时的中位孕龄为 13 周（11-22 周）。有创性遗传检测显示 7 例（31.8%）存在非整倍体，2 例为 13 三体（9.1%），5 例为 18 三体（22.8%）。有 5 例（22.7%）胎儿存在体外肝脏：1 例为 18 三体（20%），1 例为 13 三体（20%），其余 3 例胎儿核型正常（60%）。此外，14 例（63.6%）妊娠终止：4 例为 18 三体（28.6%），1 例为 13 三体（7.1%），9 例终止妊娠（64.3%）存在其他先天性异常。8 例决定继续妊娠的患者中，有 4 例（50%）婴儿出生后死亡。1 例婴儿的脐膨出囊在随后几周的妊娠中自然消退，目前已 1 岁。
在诊断为脐膨出的病例中，染色体异常的发生率高达 31.8%。此外，对于遗传检测结果正常的病例，发生其他结构缺陷的倾向较高，预后仍然较差。建议向父母提供终止妊娠的选择是合适的。
