Background: The diagnosis of congenital heart disease (CHD) during pregnancy can be a disquieting experience for parents, which relates to stress and a broad spectrum of variable emotional responses. This poses the medical and ethical obligation of accurate and sensitive counseling to patients, who should be extensively informed about the diagnosis, its implications for pregnancy, post-natal prognosis and available treatment options as well as termination of pregnancy (TOP). Therefore, early detection of congenital heart disease is advantageous to allow anticipated prenatal counseling and with it a suitable time frame for parents to decide whether to continue or end pregnancy. Today an early diagnosis is possible thanks to progress in ultrasound diagnosis, continuous formation of doctors and updated cardiac screening guidelines. Aim of the study: This experimental study has the aim of evaluating the effects of multidisciplinary prenatal counseling in the diagnosis of fetal CHD and on the parental choice of termination of pregnancy (TOP). Materials and methods: In 2023 the Obstetrics and Gynecology Division of Padua introduced a new multidisciplinary integrated clinic for CHD. Fetal echocardiography is performed on expectant mothers by an obstetrician specialized in maternal-fetal medicine and a pediatric cardiologist, who then explain to parents the features of the malformation, its prognosis and possible treatment options. Regarding specific technical aspects of surgery treatment, parents are given the opportunity to speak to a pediatric cardiothoracic surgeon, in a separate and dedicated room. A single-center and retrospective comparison was made within the registry of fetal echocardiography performed in 2022, when the multidisciplinary clinic was yet to open, and those performed in 2023 and 2024, focusing on the number of CHD diagnoses, severity of diagnosis and prevalence of termination of pregnancy. Results: Since the introduction of the multidisciplinary clinic, the number of fetal echocardiography performed annually increased, with a corresponding rise in the detection of congenital heart diseases. In 2022, 595 FE were conducted, with 84 CHDs identifies (14.1%) and corresponding pregnancy termination rate 17.9%. In 2023, this rate decreased to 15.2% (92 CHDs among 668 FEs) and further declined to 14.0% in 2024 (100 CHDs among 683 FEs). When stratified by severity, distinct trends emerged. For minor CHDs, a statistically significant reduction in the TOP rate was observed, declining from 9.4% in 2022 to 0% in the 2023–2024 period (p-value 0.03). In contrast, trends among major CHDs were more heterogeneous. A significant decline in the TOP rate was limited to atrioventricular septal defects (AVSDs), from 66.7% in 2022 to 0% in 2023–2024 (p-value 0.02). Although not statistically significant, a trend toward higher TOP rates was observed for complex lesions with poor postnatal prognosis, such as Hypoplastic Left Heart Syndrome (HLHS). Other malformations, including Transposition of the Great Arteries (TGA) and Double Outlet Right Ventricle (DORV), exhibited a fluctuating pattern over the study period. Conclusion: A multidisciplinary approach to prenatal counseling for congenital heart disease can have a variable influence in the reduction of parents’ choice of pregnancy termination, depending on the severity of the prognosis, available medical and surgical treatment, parent’s background and personal resources (emotional, cognitive, economic).
Introduzione: La diagnosi di cardiopatia congenita (CC) durante la gravidanza è percepita come un evento traumatico da parte dei futuri genitori, legato a forte stress emotivo per l’incertezza sulle conseguenze della anormalità riscontrata. Questo pone l’impegno medico ed etico ad una consulenza prenatale accurata e sensibile verso i bisogni del feto e dei genitori. Quest’ultimi devono infatti essere informati sulla natura della malformazione e le sue conseguenze sulla vita fetale, sulla prognosi post-natale, sulle possibilità di trattamento e sul percorso di interruzione volontaria di gravidanza (IVG). Dunque, è auspicabile svolgere una diagnosi in epoca gestazionale precoce che permetta un’anticipata consulenza prenatale e garantisca al genitore una maggiore finestra temporale per la decisione di proseguimento o interruzione di gravidanza. Obiettivo dello studio: Questo studio sperimentale ha l’obiettivo di valutare gli effetti dell’introduzione di un team multidisciplinare in sede di consulenza prenatale in termini di numerosità di diagnosi prenatale di cardiopatie congenite ed interruzione volontaria di gravidanza. Materiali e Metodi: Nel 2023 la divisione ostetrica e ginecologica dell’Azienda Ospedaliera – Università di Padova ha introdotto un ambulatorio integrato per le diagnosi di cardiopatie congenite. Le pazienti in visita sono sottoposte a ecocardiografia fetale in presenza di un medico ginecologo ostetrico e un cardiologo pediatrico che, a fronte della diagnosi, forniscono ai genitori le informazioni riguardo la cardiopatia riscontrata, la prognosi e le possibilità di trattamento. Successivamente, per rispondere a domande specifiche sulle modalità di chirurgia e gestione post-operatoria viene data ai genitori l’opportunità di confrontarsi con i cardiochirurghi pediatrici, in una stanza separata e dedicata a tale colloquio. Per valutare gli effetti dell’ambulatorio multidisciplinare sono state confrontate le numerosità di diagnosi di cardiopatie congenite e delle relative interruzioni volontarie di gravidanza nel periodo antecedente all’introduzione dell’ambulatorio, anno 2022, e conseguente, biennio 2023 e 2024. Risultati: A seguito dell'istituzione dell'ambulatorio integrato, il numero di ecocardiografie fetali (EF) eseguite annualmente è aumentato, con un conseguente aumento nella diagnosi di cardiopatie congenite. Nel 2022 sono state eseguite 595 EF, con 84 CC diagnosticate (14,1%); il tasso corrispondente di interruzione volontaria di gravidanza (IVG) è stato del 17,9%. Nel 2023, tale tasso è diminuito a 15,2% (92 CC su 668 EF) ed ulteriormente a 14,0% nel 2024 (100 CC su 683 EF). Nella stratificazione per gravità, sono emerse tendenze distinte. Per le CC minori, si è osservata una riduzione statisticamente significativa del tasso di IVG, variato dal 9,4% nel 2022 allo 0% nel biennio 2023-2024 (p = 0,03). Al contrario, gli andamenti tra le CC maggiori sono risultati più eterogenei. Un calo significativo del tasso di IVG, dal 66,7% nel 2022 allo 0% nel periodo 2023-2024 (p = 0,02), è stato circoscritto ai difetti del setto atrioventricolare (CAV). Sebbene non statisticamente significativo, si è osservata una tendenza a tassi di IVG più elevati per le lesioni complesse con prognosi postnatale sfavorevole. Altre malformazioni, tra cui la Trasposizione delle Grandi Arterie (TGA), hanno mostrato un andamento fluttuante. Conclusioni: Un approccio multidisciplinare al counselling prenatale per le cardiopatie congenite può influenzare in misura variabile la decisione dei genitori per l’interruzione volontaria di gravidanza, in relazione alla gravità della prognosi, alle opzioni terapeutiche mediche e chirurgiche disponibili, nonché alle risorse personali.
The role of a multidisciplinary approach in prenatal counseling for congenital heart disease and its effects on the prevalence of termination of pregnancy
BASSO, ANGELICA
2024/2025
Abstract
Background: The diagnosis of congenital heart disease (CHD) during pregnancy can be a disquieting experience for parents, which relates to stress and a broad spectrum of variable emotional responses. This poses the medical and ethical obligation of accurate and sensitive counseling to patients, who should be extensively informed about the diagnosis, its implications for pregnancy, post-natal prognosis and available treatment options as well as termination of pregnancy (TOP). Therefore, early detection of congenital heart disease is advantageous to allow anticipated prenatal counseling and with it a suitable time frame for parents to decide whether to continue or end pregnancy. Today an early diagnosis is possible thanks to progress in ultrasound diagnosis, continuous formation of doctors and updated cardiac screening guidelines. Aim of the study: This experimental study has the aim of evaluating the effects of multidisciplinary prenatal counseling in the diagnosis of fetal CHD and on the parental choice of termination of pregnancy (TOP). Materials and methods: In 2023 the Obstetrics and Gynecology Division of Padua introduced a new multidisciplinary integrated clinic for CHD. Fetal echocardiography is performed on expectant mothers by an obstetrician specialized in maternal-fetal medicine and a pediatric cardiologist, who then explain to parents the features of the malformation, its prognosis and possible treatment options. Regarding specific technical aspects of surgery treatment, parents are given the opportunity to speak to a pediatric cardiothoracic surgeon, in a separate and dedicated room. A single-center and retrospective comparison was made within the registry of fetal echocardiography performed in 2022, when the multidisciplinary clinic was yet to open, and those performed in 2023 and 2024, focusing on the number of CHD diagnoses, severity of diagnosis and prevalence of termination of pregnancy. Results: Since the introduction of the multidisciplinary clinic, the number of fetal echocardiography performed annually increased, with a corresponding rise in the detection of congenital heart diseases. In 2022, 595 FE were conducted, with 84 CHDs identifies (14.1%) and corresponding pregnancy termination rate 17.9%. In 2023, this rate decreased to 15.2% (92 CHDs among 668 FEs) and further declined to 14.0% in 2024 (100 CHDs among 683 FEs). When stratified by severity, distinct trends emerged. For minor CHDs, a statistically significant reduction in the TOP rate was observed, declining from 9.4% in 2022 to 0% in the 2023–2024 period (p-value 0.03). In contrast, trends among major CHDs were more heterogeneous. A significant decline in the TOP rate was limited to atrioventricular septal defects (AVSDs), from 66.7% in 2022 to 0% in 2023–2024 (p-value 0.02). Although not statistically significant, a trend toward higher TOP rates was observed for complex lesions with poor postnatal prognosis, such as Hypoplastic Left Heart Syndrome (HLHS). Other malformations, including Transposition of the Great Arteries (TGA) and Double Outlet Right Ventricle (DORV), exhibited a fluctuating pattern over the study period. Conclusion: A multidisciplinary approach to prenatal counseling for congenital heart disease can have a variable influence in the reduction of parents’ choice of pregnancy termination, depending on the severity of the prognosis, available medical and surgical treatment, parent’s background and personal resources (emotional, cognitive, economic).| File | Dimensione | Formato | |
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https://hdl.handle.net/20.500.12608/87295