Division of Prenatal Medicine, University-Hospital of Cologne, Germany.
Department of Obstetrics and Prenatal Medicine, University-Hospital of Bonn, Germany.
Ultraschall Med. 2020 Oct;41(5):514-525. doi: 10.1055/a-0770-2832. Epub 2019 Jan 7.
To assess the intrauterine course, associated conditions and postnatal outcome of fetuses with pulmonary atresia with ventricular septal defect (PAVSD).
All cases of PAVSD diagnosed prenatally over a period of 10 years with a minimum follow-up of 6.5 years were retrospectively collected in 3 tertiary referral centers.
50 cases of PAVSD were diagnosed prenatally. 44.0 % of fetuses had isolated PAVSD, 4.0 % had associated cardiac anomalies, 10.0 % had extra-cardiac anomalies, 38.0 % had chromosomal anomalies, 4.0 % had non-chromosomal syndromes. Among the 32 liveborn children, 56.3 % had reverse flow in the patent arterial duct, 25.0 % had major aortopulmonary collateral arteries (MAPCAs) with ductal agenesis and 18.7 % had a double supply. 17 pregnancies were terminated (34.0 %), there was 1 intrauterine fetal death (2.0 %), 1 neonatal death (2.0 %), and 6 deaths (12.0 %) in infancy. 25 of 30 (83.3 %) liveborn children with an intention to treat were alive at the latest follow-up. The mean follow-up among survivors was 10.0 years (range 6.5-15.1). 56.0 % of infants underwent staged repair, 44.0 % had one-stage complete repair. After exclusion of infants with additional chromosomal or syndromal anomalies, 88.9 % were healthy, and 11.1 % had mild limitations. The presence of MAPCAs did not differ significantly between survivors and non-survivors (p = 0.360), between one-stage or staged repair (p = 0.656) and healthy and impaired infants (p = 0.319).
The prognosis in cases without chromosomal or syndromal anomalies is good. MAPCAs did not influence prognosis or postoperative health. The incidence of repeat interventions due to recurrent stenoses is significantly higher after staged compared with single-stage repair.
评估伴有室间隔缺损的肺动脉闭锁（PAVSD）胎儿的宫内过程、相关情况和产后结局。
在三个三级转诊中心回顾性收集了 10 年内诊断为 PAVSD 的所有病例，这些病例均有至少 6.5 年的随访。
50 例 PAVSD 病例被产前诊断。44.0%的胎儿为单纯性 PAVSD，4.0%的胎儿合并心脏畸形，10.0%的胎儿合并心脏外畸形，38.0%的胎儿合并染色体异常，4.0%的胎儿合并非染色体综合征。在 32 例活产儿中，56.3%的动脉导管有逆向血流，25.0%的有主要体肺侧支动脉（MAPCAs）伴导管缺如，18.7%的有双重供应。17 例妊娠终止（34.0%），1 例胎儿宫内死亡（2.0%），1 例新生儿死亡（2.0%），6 例婴儿死亡（12.0%）。30 例有治疗意向的活产儿中，25 例（83.3%）在最新随访时存活。幸存者的平均随访时间为 10.0 年（范围 6.5-15.1 年）。56.0%的婴儿接受了分期修复，44.0%的婴儿接受了一期完全修复。排除合并染色体或综合征异常的婴儿后，88.9%的婴儿健康，11.1%的婴儿有轻度受限。MAPCAs 的存在在幸存者和非幸存者之间（p=0.360）、在一期或分期修复之间（p=0.656）以及在健康和受损婴儿之间（p=0.319）差异无统计学意义。
无染色体或综合征异常的病例预后良好。MAPCAs 对预后或术后健康状况无影响。分期修复后因再狭窄而再次介入的发生率明显高于一期修复。
