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L'impatto della diagnosi fetale sulle cardiopatie congenite ad emergenza neonatale
- 2. Andrea Marini S.C. Cardiologia Pediatrica – osp. San Michele – A.O.B. 20/11/2015 San Edmondo Martire L’impatto della diagnosi fetale sulle cardiopatie congenite ad emergenza neonatale ovvero Come insegnare ai bambini a volare a bassa quota
- 3. Quali sono le cardiopatie congenite con emergenza neonatale
- 4. CON DOTTO DIPENDENZA POLMONARE • ATRESIA POLMONARE A SETTO INTATTO • ATRESIA POLMONARE + DIV CON DOTTO DIPENDENZA SISTEMICA • CUORE SINISTRO IPOPLASICO • COARTAZIONE AORTICA / INTERRUZIONE DELL’ARCO AORTICO CON CIRCOLAZIONE IN PARALLELO • TRASPOSIZIONE DEI GROSSI VASI CON SCOMPENSO CARDIACO • RITORNO VENOSO POLMONARE ANOMALO TOTALE • VENTRICOLO UNICO • CANALE ATRIO VENTRICOLARE COMPLETO Risposta
- 5. Perché parlare di una così ovvia?
- 6. Impatto sulla morbilità cardiopatie con Dotto-dipendenza (S/P) - miglioramento del pH arterioso - miglior saturazione di O2 - minor disfunzione miocardica - minore danno d’organo (IRA, NEC) Outcome perinatale dei feti con CHD
- 7. HLHS trattate precocemente con prostaglandine - minori sequele neurologiche - miglior funzione neurocognitiva a lungo termine - predice la necessità di plastica del setto interatriale D-TGA settostomia sec. Rashkind Blocco atrioventricolare congenito necessità di pacing - più rapida stabilizzazione della circolazione postnatale - precoce intervento cardiochirurgico - minore durata del ricovero ospedaliero Outcome perinatale dei feti con CHD
- 8. Impatto sulla morbilità (diagnosi fetale vs postnatale) Outcome perinatale dei feti con CHD
- 9. Impatto sulla morbilità (diagnosi fetale vs postnatale) Outcome perinatale dei feti con CHD
- 10. Impatto sulla morbilità (diagnosi fetale vs postnatale) Outcome perinatale dei feti con CHD
- 11. Impatto sulla sopravvivenza Nonostante diversi studi abbiano documentato una riduzione della morbilità associate ad una diagnosi prenatale, gli studi che abbiano documentato miglioramento della sopravvivenza in feti con cardiopatie congenite sono scarsi. Outcome perinatale dei feti con CHD
- 12. Impatto sulla mortalità (diagnosi fetale vs postnatale) Outcome perinatale dei feti con CHD
- 13. Impatto sulla sopravvivenza Nei bambini con diagnosi prenatale di D-TGA si è visto esserci una migliore sopravvivenza dopo switch arterioso Outcome perinatale dei feti con CHD
- 14. Impatto sulla sopravvivenza Negli studi che includono dati autoptici, l’analisi prenatale si è dimostrata migliorare la sopravvivenza nei neonati con Coartazione Aortica Heart. 2002 Jan;87(1):67-9. Prenatal diagnosis of coarctation of the aorta improves survival and reduces morbidity. Franklin O1 et al. Outcome perinatale dei feti conCHD
- 15. Impatto sulla sopravvivenza L’evidenza prenatale di D-TGA riduce la mortalità pre e post operatoria, l’insorgenza di acidosi metabolica e la degenza ospedaliera complessiva (considerando anche la diagnosi autoptica) Circulation. 1999 Detection of transposition of the great arteries in fetuses reduces neonatal morbidity and mortality. Bonnet D. et al. Outcome perinatale dei feti conCHD
- 16. Impatto sulla sopravvivenza Nei neonati con diagnosi prenatale Cuore Sinistro Ipoplasico (HLHS) si è dimostrato esserci una sopravvivenza maggiore dopo il 2° stadio di palliazione All’analisi multivariate solo la diagnosi postnatale risultava essere significativamente associata a mortalità precoce (P=0.04). Outcome perinatale dei feti con CHD
- 17. Kumar RK et al. Comparison of outcome when hypoplastic left heart syndrome and transposition of the great arteries are diagnosed prenatally versus when diagnosis of these two conditions is made only postnatally. Am J Cardiol. 1999 Jun 15;83(12):1649-53. Impatto sulla sopravvivenza Queste non sono delle osservazioni consistenti Copel JA, et al. Does a prenatal diagnosis of congenital heart disease alter short-term outcome? Ultrasound Obstet Gynecol. 1997;10:237–241 Tham EB,et al. Outcome of fetuses and infants with double inlet single left ventricle. Am J Cardiol. 2008;101:1652–1656 Wan AW, et al. Comparison of impact of prenatal versus postnatal diagnosis of congenitally corrected transposition of the great arteries. Am J Cardiol. 2009;104:1276– 1279. Mahle WT, et al. Impact of prenatal diagnosis on survival and early neurologic morbidity in neonates with the hypoplastic left heart syndrome. Pediatrics. 2001;107:1277–1282. Outcome perinatale dei feti con CHD
- 18. Kumar RK et al. Comparison of outcome when hypoplastic left heart syndrome and transposition of the great arteries are diagnosed prenatally versus when diagnosis of these two conditions is made only postnatally. Am J Cardiol. 1999 Jun 15;83(12):1649-53. Impatto sulla sopravvivenza Queste non sono delle osservazioni consistenti Copel JA, et al. Does a prenatal diagnosis of congenital heart disease alter short-term outcome? Ultrasound Obstet Gynecol. 1997;10:237–241 Tham EB,et al. Outcome of fetuses and infants with double inlet single left ventricle. Am J Cardiol. 2008;101:1652–1656 Wan AW, et al. Comparison of impact of prenatal versus postnatal diagnosis of congenitally corrected transposition of the great arteries. Am J Cardiol. 2009;104:1276– 1279. Mahle WT, et al. Impact of prenatal diagnosis on survival and early neurologic morbidity in neonates with the hypoplastic left heart syndrome. Pediatrics. 2001;107:1277–1282. Outcome perinatale dei feti con CHD
- 19. Kumar RK et al. Comparison of outcome when hypoplastic left heart syndrome and transposition of the great arteries are diagnosed prenatally versus when diagnosis of these two conditions is made only postnatally. Am J Cardiol. 1999 Jun 15;83(12):1649-53. Impatto sulla sopravvivenza Queste non sono delle osservazioni consistenti Copel JA, et al. Does a prenatal diagnosis of congenital heart disease alter short-term outcome? Ultrasound Obstet Gynecol. 1997;10:237–241 Tham EB,et al. Outcome of fetuses and infants with double inlet single left ventricle. Am J Cardiol. 2008;101:1652–1656 Wan AW, et al. Comparison of impact of prenatal versus postnatal diagnosis of congenitally corrected transposition of the great arteries. Am J Cardiol. 2009;104:1276– 1279. Mahle WT, et al. Impact of prenatal diagnosis on survival and early neurologic morbidity in neonates with the hypoplastic left heart syndrome. Pediatrics. 2001;107:1277–1282. Outcome perinatale dei feti con CHD
- 20. Kumar RK et al. Comparison of outcome when hypoplastic left heart syndrome and transposition of the great arteries are diagnosed prenatally versus when diagnosis of these two conditions is made only postnatally. Am J Cardiol. 1999 Jun 15;83(12):1649-53. Impatto sulla sopravvivenza Queste non sono delle osservazioni consistenti Copel JA, et al. Does a prenatal diagnosis of congenital heart disease alter short-term outcome? Ultrasound Obstet Gynecol. 1997;10:237–241 Tham EB,et al. Outcome of fetuses and infants with double inlet single left ventricle. Am J Cardiol. 2008;101:1652–1656 Wan AW, et al. Comparison of impact of prenatal versus postnatal diagnosis of congenitally corrected transposition of the great arteries. Am J Cardiol. 2009;104:1276– 1279. Mahle WT, et al. Impact of prenatal diagnosis on survival and early neurologic morbidity in neonates with the hypoplastic left heart syndrome. Pediatrics. 2001;107:1277–1282. Outcome perinatale dei feti con CHD
- 21. Kumar RK et al. Comparison of outcome when hypoplastic left heart syndrome and transposition of the great arteries are diagnosed prenatally versus when diagnosis of these two conditions is made only postnatally. Am J Cardiol. 1999 Jun 15;83(12):1649-53. Impatto sulla sopravvivenza Queste non sono delle osservazioni consistenti Copel JA, et al. Does a prenatal diagnosis of congenital heart disease alter short-term outcome? Ultrasound Obstet Gynecol. 1997;10:237–241 Tham EB,et al. Outcome of fetuses and infants with double inlet single left ventricle. Am J Cardiol. 2008;101:1652–1656 Wan AW, et al. Comparison of impact of prenatal versus postnatal diagnosis of congenitally corrected transposition of the great arteries. Am J Cardiol. 2009;104:1276– 1279. Mahle WT, et al. Impact of prenatal diagnosis on survival and early neurologic morbidity in neonates with the hypoplastic left heart syndrome. Pediatrics. 2001;107:1277–1282. Outcome perinatale dei feti con CHD
- 22. Kumar RK et al. Comparison of outcome when hypoplastic left heart syndrome and transposition of the great arteries are diagnosed prenatally versus when diagnosis of these two conditions is made only postnatally. Am J Cardiol. 1999 Jun 15;83(12):1649-53. Impatto sulla sopravvivenza Queste non sono delle osservazioni consistenti Copel JA, et al. Does a prenatal diagnosis of congenital heart disease alter short-term outcome? Ultrasound Obstet Gynecol. 1997;10:237–241 Tham EB,et al. Outcome of fetuses and infants with double inlet single left ventricle. Am J Cardiol. 2008;101:1652–1656 Wan AW, et al. Comparison of impact of prenatal versus postnatal diagnosis of congenitally corrected transposition of the great arteries. Am J Cardiol. 2009;104:1276– 1279. Mahle WT, et al. Impact of prenatal diagnosis on survival and early neurologic morbidity in neonates with the hypoplastic left heart syndrome. Pediatrics. 2001;107:1277–1282. Outcome perinatale dei feti con CHD
- 23. Prenatal diagnosis has been shown to improve preoperative morbidity in newborns with congenital heart defects (CHDs), but there are conflicting data as to the association with mortality. We performed a population-based, retrospective, cohort study of infants with prenatally versus postnatally diagnosed CHDs from 1994 to 2005 as ascertained by the Metropolitan Atlanta Congenital Defects Program. Among infants with isolated CHDs, we estimated 1-year Kaplan-Meier survival probabilities for prenatal versus postnatal diagnosis and estimated Cox proportional hazard ratios adjusted for critical CHD status, gestational age, and maternal race/ethnicity. Of 539,519 live births, 4,348 infants had CHDs (411 prenatally diagnosed). Compared with those with noncritical defects, those with critical defects were more likely to be prenatally diagnosed (58% vs 20%, respectively, p <0.001). Of the 3,146 infants with isolated CHDs, 1-year survival rate was 77% for those prenatally diagnosed (n = 207) versus 96% for those postnatally diagnosed (n = 2,939, p <0.001). Comparing 1-year survival rate among those with noncritical CHDs alone (n = 2,455) showed no difference between prenatal and postnatal diagnoses (96% vs 98%, respectively, p = 0.26), whereas among those with critical CHDs (n = 691), prenatally diagnosed infants had significantly lower survival rate (71% vs 86%, respectively, p <0.001). Among infants with critical CHDs, the adjusted hazard ratio for 1-year mortality rate for those prenatally versus postnatally (reference) diagnosed was 2.51 (95% confidence interval 1.72 to 3.66). In conclusion, prenatal diagnosis is associated with lower 1-year survival rate for infants with isolated critical CHDs but shows no change for those with isolated noncritical CHDs. More severe disease among the critical CHD subtypes diagnosed prenatally might explain these findings. A population-based study of the association of prenatal diagnosis with survival rate for infants with congenital heart defects 2014 Mar 15;113(6):1036-40 Outcome perinatale: il muro
- 24. Prenatal diagnosis has been shown to improve preoperative morbidity in newborns with congenital heart defects (CHDs), but there are conflicting data as to the association with mortality. We performed a population-based, retrospective, cohort study of infants with prenatally versus postnatally diagnosed CHDs from 1994 to 2005 as ascertained by the Metropolitan Atlanta Congenital Defects Program. Among infants with isolated CHDs, we estimated 1-year Kaplan-Meier survival probabilities for prenatal versus postnatal diagnosis and estimated Cox proportional hazard ratios adjusted for critical CHD status, gestational age, and maternal race/ethnicity. Of 539,519 live births, 4,348 infants had CHDs (411 prenatally diagnosed). Compared with those with noncritical defects, those with critical defects were more likely to be prenatally diagnosed (58% vs 20%, respectively, p <0.001). Of the 3,146 infants with isolated CHDs, 1-year survival rate was 77% for those prenatally diagnosed (n = 207) versus 96% for those postnatally diagnosed (n = 2,939, p <0.001). Comparing 1-year survival rate among those with noncritical CHDs alone (n = 2,455) showed no difference between prenatal and postnatal diagnoses (96% vs 98%, respectively, p = 0.26), whereas among those with critical CHDs (n = 691), prenatally diagnosed infants had significantly lower survival rate (71% vs 86%, respectively, p <0.001). Among infants with critical CHDs, the adjusted hazard ratio for 1-year mortality rate for those prenatally versus postnatally (reference) diagnosed was 2.51 (95% confidence interval 1.72 to 3.66). In conclusion, prenatal diagnosis is associated with lower 1-year survival rate for infants with isolated critical CHDs but shows no change for those with isolated noncritical CHDs. More severe disease among the critical CHD subtypes diagnosed prenatally might explain these findings. A population-based study of the association of prenatal diagnosis with survival rate for infants with congenital heart defects 2014 Mar 15;113(6):1036-40 Outcome perinatale: il muro
- 25. Outcome perinatale: la svolta
- 26. Outcome perinatale: la svolta
- 27. Outcome perinatale: la svolta
- 28. • Quasi tutti gli studi fatti sono una semplice analisi retrospettiva e non sono fatti veramente per studiare una sopravvivenza • Contengono spesso molti bias di selezione: • Molti non contengono le interruzioni di gravidanza, gli aborti spontanei e le indagini autoptiche. • La maggior parte degli studi riflettono l’esperienza di centri di terzo livello, per cui vi appartengono solo coorti di neonati che sopravvivono al trasporto. • Bisognerebbe includere anche i bambini con diagnosi postnatale deceduti nel trasporto o in un centro di primo-secondo livello. • Questo non farebbe altro che rafforzare il concetto di quanto la diagnosi prenatale possa essere utile per migliorare la sopravvivenza preoperatoria. Considerazioni generali - 1
- 29. • In Italia il 28,9% delle gravidanze con evidenza prenatale di cardiopatia congenita vanno incontro a interruzione volontaria (Heart 1999). • Considerando le IVG (secondo casistiche americane fino al 50% delle CHD complesse con diagnosi prenatale), la sopravvivenza è sicuramente maggiore nei bambini con diagnosi postnatale • Le cardiopatie congenite hanno incidenza stabile nel tempo e nelle varie etnie (0,9% dei nati vivi) • In Europa questo dato è in calo • Sempre meno bambini e sempre più interruzioni di gravidanza • Meno cardiopatie critiche/complesse Considerazioni generali - 2
- 30. • La diagnosi prenatale delle cardiopatie congenite critiche con emergenza postnatale ha molti sicuri benefici • Permette di pianificare il parto in sicurezza con miglioramento degli outcome clinici fetali e neonatali • Anche se non ci sono studi che definiscono in modo univoco l’effetto favorevole della diagnosi prenatale sulla sopravvivenza, il buon senso supera facilmente questo ostacolo. • Gli specialisti della medicina fetale sono chiamati ora a considerare il feto come un paziente che ha necessità di una cura individualizzata in questa fase di transizione verso la vita extrauterina. Conclusioni
Editor's Notes
- Mi è stato dato (mio malgrado) l’ingrato compito di raccontarvi delle brutte storie.
- Perché parlare di una così ovvia? Perché evidentemente non è così ovvia Perché così facciamo il punto della situazione su cio che facciamo e che risultati otteniamo Terchè così ci ricordiamo percgè lo facciamo
- Perché parlare di una così ovvia? Perché evidentemente non è così ovvia Perché così facciamo il punto della situazione su ciò che facciamo e che risultati otteniamo Perché così ci ricordiamo perchè lo facciamo
- Perché parlare di una così ovvia? Perché evidentemente non è così ovvia Perché così facciamo il punto della situazione su cio che facciamo e che risultati otteniamo Perchè così ci ricordiamo perchè lo facciamo
- The prenatal diagnosis of critical neonatal CHD has been shown to affect neonatal morbidity and, to a lesser extent, mortality associated with these defects. Infants diagnosed prenatally with CHD who depend on patency of the ductus arteriosus for systemic or pulmonary blood flow have been shown to be less compromised preoperatively than infants in whom the diagnosis is made after birth, with improved arterial pH, improved oxygenation, less myocardial dysfunction, and less end-organ disease such as necrotizing enterocolitis and renal injury.176,539–544 In infants diagnosed prenatally with HLHS, timely stabilization and initiation of a prostaglandin infusion have been shown to result in fewer neurological sequelae compared with those infants diagnosed postnatally in whom hemodynamic compromise may have occurred before the diagnosis was made.545 Therefore, it has been proposed that prenatal diagnosis may contribute to improved long-term neurocognitive function and outcome.544,545 Prenatal diagnosis may also predict the need for emergent postnatal intervention such as balloon atrial septostomy for d-TGA,546,547 atrial septoplasty for HLHS,176,548,549 or pacing in CHB,550 thus improving outcome by allowing more rapid stabilization of the postnatal circulation. Finally, although hospital length of stay has been unaffected by prenatal diagnosis in some settings,544,551 others report earlier time to surgical intervention and reduced length of hospital stay in neonates diagnosed in utero with critical heart disease who undergo biventricular repair.545
- The prenatal diagnosis of critical neonatal CHD has been shown to affect neonatal morbidity and, to a lesser extent, mortality associated with these defects. Infants diagnosed prenatally with CHD who depend on patency of the ductus arteriosus for systemic or pulmonary blood flow have been shown to be less compromised preoperatively than infants in whom the diagnosis is made after birth, with improved arterial pH, improved oxygenation, less myocardial dysfunction, and less end-organ disease such as necrotizing enterocolitis and renal injury.176,539–544 In infants diagnosed prenatally with HLHS, timely stabilization and initiation of a prostaglandin infusion have been shown to result in fewer neurological sequelae compared with those infants diagnosed postnatally in whom hemodynamic compromise may have occurred before the diagnosis was made.545 Therefore, it has been proposed that prenatal diagnosis may contribute to improved long-term neurocognitive function and outcome.544,545 Prenatal diagnosis may also predict the need for emergent postnatal intervention such as balloon atrial septostomy for d-TGA,546,547 atrial septoplasty for HLHS,176,548,549 or pacing in CHB,550 thus improving outcome by allowing more rapid stabilization of the postnatal circulation. Finally, although hospital length of stay has been unaffected by prenatal diagnosis in some settings,544,551 others report earlier time to surgical intervention and reduced length of hospital stay in neonates diagnosed in utero with critical heart disease who undergo biventricular repair.545
- minore età all’intervento Migliore pH Minore disfunzione valvolare e disfunzione ventricolo destro, minore necessità di inotropi/bicarbonati E di conseguenza chi non sopravvive all’intervento (solo su chi è stato sottoposto a palliazione) ha maggiori alterazioni basali postnatali
- minore età all’intervento Migliore pH Minore disfunzione valvolare e disfunzione ventricolo destro, minore necessità di inotropi/bicarbonati E di conseguenza chi non sopravvive all’intervento (solo su chi è stato sottoposto a palliazione) ha maggiori alterazioni basali postnatali
- minore età all’intervento Migliore pH Minore disfunzione valvolare e disfunzione ventricolo destro, minore necessità di inotropi/bicarbonati E di conseguenza chi non sopravvive all’intervento (solo su chi è stato sottoposto a palliazione) ha maggiori alterazioni basali postnatali
- Despite studies suggesting a reduction in morbidity associated with prenatal diagnosis, studies documenting improved survival in fetuses with CHD are sparse.
- minore età all’intervento Migliore pH Minore disfunzione valvolare e disfunzione ventricolo destro, minore necessità di inotropi/bicarbonati E di conseguenza chi non sopravvive all’intervento (solo su chi è stato sottoposto a palliazione) ha maggiori alterazioni basali postnatali
- Despite studies suggesting a reduction in morbidity associated with prenatal diagnosis, studies documenting improved survival in fetuses with CHD are sparse.
- Impact on Survival In studies that include necropsy data, prenatal diagnosis has been shown to improve survival in newborns with coarctation of the aorta542 or d-TGA,546,552 and a population cohort of all CHD diagnoses excluding ventricular septal defects.553
- Mortalità pre e post operatoria Durata della degenza ospedaliera
- Despite studies suggesting a reduction in morbidity associated with prenatal diagnosis, studies documenting improved survival in fetuses with CHD are sparse.
- Molti altri studi non sono riusciti a dimostrare un reale vantaggio in termini di sopravvivenza nei bambini con lesioni tipo D-TGA, L-TGA, HLHS, ToF con atresia polmonare, sindromi eterotassiche o ventricolo sinistro double inlet. sulla sopravvivenza This has not been a consistent observation; several other studies have failed to demonstrate a survival advantage among infants with a prenatal diagnosis for lesions such as d-TGA, congenitally corrected TGA, PA/IVS, TOF with pulmonary atresia, HLHS, heterotaxy syndrome, or double-inlet left ventricle.176,539–542,545,554–557
- Molti altri studi non sono riusciti a dimostrare un reale vantaggio in termini di sopravvivenza nei bambini con lesioni tipo D-TGA, L-TGA, HLHS, ToF con atresia polmonare, sindromi eterotassiche o ventricolo sinistro double inlet. sulla sopravvivenza This has not been a consistent observation; several other studies have failed to demonstrate a survival advantage among infants with a prenatal diagnosis for lesions such as d-TGA, congenitally corrected TGA, PA/IVS, TOF with pulmonary atresia, HLHS, heterotaxy syndrome, or double-inlet left ventricle.176,539–542,545,554–557
- Molti altri studi non sono riusciti a dimostrare un reale vantaggio in termini di sopravvivenza nei bambini con lesioni tipo D-TGA, L-TGA, HLHS, ToF con atresia polmonare, sindromi eterotassiche o ventricolo sinistro double inlet. sulla sopravvivenza This has not been a consistent observation; several other studies have failed to demonstrate a survival advantage among infants with a prenatal diagnosis for lesions such as d-TGA, congenitally corrected TGA, PA/IVS, TOF with pulmonary atresia, HLHS, heterotaxy syndrome, or double-inlet left ventricle.176,539–542,545,554–557
- Molti altri studi non sono riusciti a dimostrare un reale vantaggio in termini di sopravvivenza nei bambini con lesioni tipo D-TGA, L-TGA, HLHS, ToF con atresia polmonare, sindromi eterotassiche o ventricolo sinistro double inlet. sulla sopravvivenza This has not been a consistent observation; several other studies have failed to demonstrate a survival advantage among infants with a prenatal diagnosis for lesions such as d-TGA, congenitally corrected TGA, PA/IVS, TOF with pulmonary atresia, HLHS, heterotaxy syndrome, or double-inlet left ventricle.176,539–542,545,554–557
- Molti altri studi non sono riusciti a dimostrare un reale vantaggio in termini di sopravvivenza nei bambini con lesioni tipo D-TGA, L-TGA, HLHS, ToF con atresia polmonare, sindromi eterotassiche o ventricolo sinistro double inlet. sulla sopravvivenza This has not been a consistent observation; several other studies have failed to demonstrate a survival advantage among infants with a prenatal diagnosis for lesions such as d-TGA, congenitally corrected TGA, PA/IVS, TOF with pulmonary atresia, HLHS, heterotaxy syndrome, or double-inlet left ventricle.176,539–542,545,554–557
- Molti altri studi non sono riusciti a dimostrare un reale vantaggio in termini di sopravvivenza nei bambini con lesioni tipo D-TGA, L-TGA, HLHS, ToF con atresia polmonare, sindromi eterotassiche o ventricolo sinistro double inlet. sulla sopravvivenza This has not been a consistent observation; several other studies have failed to demonstrate a survival advantage among infants with a prenatal diagnosis for lesions such as d-TGA, congenitally corrected TGA, PA/IVS, TOF with pulmonary atresia, HLHS, heterotaxy syndrome, or double-inlet left ventricle.176,539–542,545,554–557
- Am J Cardiol. 2014 Mar 15;113(6):1036-40. A population-based study of the association of prenatal diagnosis with survival rate for infants with congenital heart defects. Abstract Prenatal diagnosis has been shown to improve preoperative morbidity in newborns with congenital heart defects (CHDs), but there are conflicting data as to the association with mortality. We performed a population-based, retrospective, cohort study of infants with prenatally versus postnatally diagnosed CHDs from 1994 to 2005 as ascertained by the Metropolitan Atlanta Congenital Defects Program. Among infants with isolated CHDs, we estimated 1-year Kaplan-Meier survival probabilities for prenatal versus postnatal diagnosis and estimated Cox proportional hazard ratios adjusted for critical CHD status, gestational age, and maternal race/ethnicity. Of 539,519 live births, 4,348 infants had CHDs (411 prenatally diagnosed). Compared with those with noncritical defects, those with critical defects were more likely to be prenatally diagnosed (58% vs 20%, respectively, p <0.001). Of the 3,146 infants with isolated CHDs, 1-year survival rate was 77% for those prenatally diagnosed (n = 207) versus 96% for those postnatally diagnosed (n = 2,939, p <0.001). Comparing 1-year survival rate among those with noncritical CHDs alone (n = 2,455) showed no difference between prenatal and postnatal diagnoses (96% vs 98%, respectively, p = 0.26), whereas among those with critical CHDs (n = 691), prenatally diagnosed infants had significantly lower survival rate (71% vs 86%, respectively, p <0.001). Among infants with critical CHDs, the adjusted hazard ratio for 1-year mortality rate for those prenatally versus postnatally (reference) diagnosed was 2.51 (95% confidence interval 1.72 to 3.66). In conclusion, prenatal diagnosis is associated with lower 1-year survival rate for infants with isolated critical CHDs but shows no change for those with isolated noncritical CHDs. More severe disease among the critical CHD subtypes diagnosed prenatally might explain these findings.
- Am J Cardiol. 2014 Mar 15;113(6):1036-40. A population-based study of the association of prenatal diagnosis with survival rate for infants with congenital heart defects. Abstract Prenatal diagnosis has been shown to improve preoperative morbidity in newborns with congenital heart defects (CHDs), but there are conflicting data as to the association with mortality. We performed a population-based, retrospective, cohort study of infants with prenatally versus postnatally diagnosed CHDs from 1994 to 2005 as ascertained by the Metropolitan Atlanta Congenital Defects Program. Among infants with isolated CHDs, we estimated 1-year Kaplan-Meier survival probabilities for prenatal versus postnatal diagnosis and estimated Cox proportional hazard ratios adjusted for critical CHD status, gestational age, and maternal race/ethnicity. Of 539,519 live births, 4,348 infants had CHDs (411 prenatally diagnosed). Compared with those with noncritical defects, those with critical defects were more likely to be prenatally diagnosed (58% vs 20%, respectively, p <0.001). Of the 3,146 infants with isolated CHDs, 1-year survival rate was 77% for those prenatally diagnosed (n = 207) versus 96% for those postnatally diagnosed (n = 2,939, p <0.001). Comparing 1-year survival rate among those with noncritical CHDs alone (n = 2,455) showed no difference between prenatal and postnatal diagnoses (96% vs 98%, respectively, p = 0.26), whereas among those with critical CHDs (n = 691), prenatally diagnosed infants had significantly lower survival rate (71% vs 86%, respectively, p <0.001). Among infants with critical CHDs, the adjusted hazard ratio for 1-year mortality rate for those prenatally versus postnatally (reference) diagnosed was 2.51 (95% confidence interval 1.72 to 3.66). In conclusion, prenatal diagnosis is associated with lower 1-year survival rate for infants with isolated critical CHDs but shows no change for those with isolated noncritical CHDs. More severe disease among the critical CHD subtypes diagnosed prenatally might explain these findings.
- Bisogna fare una distinzione su cio’ che in queste campo è misurabile e su quanto invece non lo è. È misurabile la sopravvivenza e tanti indici di migliore stato di salute su chi si sa essere cardiopatico prima che nasca, anziché aspettare che stia male per scoprirlo dopo. E misurare chi vive e chi muore si può fare The prenatal diagnosis and management of fetal CHD have several potential important benefits. In addition to providing time for extensive prenatal counseling and family support, advancements in fetal imaging technology with analysis of interval fetal studies have enabled better prediction of the clinical course in utero and during the circulatory transition that occurs with delivery. This allows specialized planning of deliveries in select cases with the goal of improved fetal and postnatal outcomes. Fetal medicine specialists are now being asked to consider the fetus as a patient and the transition to postnatal life an important part of individualized care.