Cooper Amy, Sisco Kacy, Backes Carl H, Dutro Marc, Seabrook Ruth, Santoro Stephanie L, Cua Clifford L
Heart Center, Nationwide Children's Hospital, Columbus, OH, USA.
Section of Perinatology, Nationwide Children's Hospital, Columbus, OH, USA.
Pediatr Cardiol. 2019 Dec;40(8):1716-1721. doi: 10.1007/s00246-019-02209-w. Epub 2019 Sep 20.
The objective of this study is to evaluate if the diagnosis of a complex congenital heart disease (CHD) was missed in a patient with Down syndrome (DS) who had a fetal echocardiogram that was read as normal. Secondary goal of this study was to determine if any CHD was missed postnatally when a fetal echocardiogram was read as normal. A retrospective chart review of children with DS at Nationwide Children's Hospital whose birthdates were between 1/1/2010 and 12/31/2017 was performed. Patients were included if they had a fetal echocardiogram that was read as normal and also had a postnatal echocardiogram performed. One hundred twenty fetal echocardiograms on patients with DS were performed, of which 45 patients met the inclusion criteria. No patient was diagnosed with a complex CHD postnatally, with a negative predictive value = 100%. Thirteen patients were diagnosed with CHD postnatally, with a negative predictive value of 71.1%. All 13 patients had either a murmur (11) or an abnormal EKG (9). One patient died at 8 days of life due to pulmonary hypertension complications. Five patients had resolution of their CHD, 2 patients have near resolution, 2 patients are being followed for their atrial septal defects and 3 underwent intervention (septum primum surgical repair = 1, PDA catheter occlusion = 2). Complex CHD was not missed on any fetal echocardiograms performed on patients with DS. All the other patients who had CHD diagnosed postnatally had an abnormal finding on evaluation. Further studies evaluating echocardiographic imaging recommendations are needed to maximize care in this patient population.
本研究的目的是评估在胎儿超声心动图显示正常的唐氏综合征（DS）患者中，是否漏诊了复杂先天性心脏病（CHD）。本研究的次要目标是确定当胎儿超声心动图显示正常时，出生后是否漏诊了任何CHD。对全国儿童医院2010年1月1日至2017年12月31日出生的DS患儿进行了回顾性病历审查。如果患者进行了胎儿超声心动图检查且结果显示正常，并且还进行了出生后超声心动图检查，则纳入研究。对DS患者进行了120次胎儿超声心动图检查，其中45例患者符合纳入标准。出生后没有患者被诊断为复杂CHD，阴性预测值为100%。13例患者出生后被诊断为CHD，阴性预测值为71.1%。所有13例患者均有杂音（11例）或心电图异常（9例）。1例患者在出生后8天因肺动脉高压并发症死亡。5例患者的CHD已缓解，2例患者接近缓解，2例患者因房间隔缺损正在接受随访，3例患者接受了干预（原发隔手术修复1例，动脉导管未闭导管封堵2例）。对DS患者进行的任何胎儿超声心动图检查均未漏诊复杂CHD。所有其他出生后被诊断为CHD的患者在评估时有异常发现。需要进一步研究评估超声心动图成像建议，以优化对该患者群体的护理。
