Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Department of Pediatrics, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
J Clin Ultrasound. 2021 Jan;49(1):71-73. doi: 10.1002/jcu.22862. Epub 2020 May 24.
Situs inversus, a condition in which the major visceral organs are reversed from their normal positions in the body, can be detected by prenatal ultrasonography. Often benign, it may be associated with primary ciliary dyskinesia, an autosomal recessive disorder characterized by chronic respiratory disease. Yet, prenatal diagnosis of primary ciliary dyskinesia has not been reported. We describe a pregnancy in which situs inversus was diagnosed by fetal ultrasound at 20 weeks gestation. Prenatal testing for primary ciliary dyskinesia led to the discovery that both parents were asymptomatic carriers of a pathogenic mutation in the CCDC103 gene, with an affected neonate.
内脏器官位置反转（ situs inversus ），即主要内脏器官与身体正常位置相反的一种情况，可以通过产前超声检查发现。这种情况通常是良性的，但可能与原发性纤毛运动障碍（ primary ciliary dyskinesia ）有关，原发性纤毛运动障碍是一种常染色体隐性遗传病，其特征是慢性呼吸道疾病。然而，目前尚未有关于原发性纤毛运动障碍的产前诊断报道。我们描述了一例 20 周妊娠胎儿超声检查发现内脏器官位置反转的病例。对原发性纤毛运动障碍进行产前检测，发现父母双方均为 CCDC103 基因突变的无症状携带者，新生儿患病。
