The Need for Pre-Conception Care in Congenital Diaphragmatic Hernia Survivors: Insights from a European Patient Survey as a Blueprint for Gynecological Recommendations

Long-term morbidities of congenital diaphragmatic hernia (CDH) are increasingly being evaluated, leading to the development of standardized lifelong follow-up programs. These programs emphasize the importance of comprehensive health assessments for CDH patients throughout both childhood and adulthood. However, there is limited research on pre-conception care and pregnancy in CDH patients, as well as the impact of CDH on health during pregnancy. With no existing data on the reproductive experiences of female CDH patients, guidelines for optimal preconception and gynecological care are lacking. To address this gap, we conducted a patient-focused survey targeting female CDH patients who were considering pregnancy or had already given birth. The survey gathered information on clinical history, current health status, and gynecological and pregnancy experiences from CDH females over 18 years old. Translated into eleven of the seventeen languages represented by the European Reference Network on rare Inherited and Congenital Anomalies (ERNICA), the survey was distributed across thirteen European countries, as well as through UK and EURORDIS channels, exclusively via patient organizations. A total of 40 CDH patients from 7 European countries, aged 19 to 68, completed the questionnaire. All participants had undergone surgical correction for CDH within the first 30 days of life, though two (5%) were uncertain about their defect size, 14 (35%) about the type of closure used, and 9 (22.5%) about their need for extracorporeal life support. Twenty-eight (70%) women expressed concerns about becoming pregnant due to their CDH history, and 5/40 (12.5%) required medical assistance to achieve pregnancy. Among 22 women, there were 30 singleton pregnancies reported, with four women pregnant at the time of the survey and a total of 26 living children. During 12/26 (46.2%) pregnancies, women experienced respiratory symptoms or sudden abdominal pain, with two (7.7%) requiring medication and one (3.8%) hospitalization. A cesarean section was planned in 12 out of 26 (46.2%) pregnancies, and three out of 22 (13.6%) women reported a CDH recurrence after delivery. Two (7.7%) babies were born prematurely, and one (3.8%) was diagnosed with CDH. The survey results highlight the need for specialized pre-conception care and gynecological management for CDH patients. Preliminary findings suggest that long-term follow-up programs and dedicated pre-conception consultations are essential to ensure safe pregnancies for CDH patients. Additionally, a personalized pregnancy plan and regular health assessments could help mitigate risks associated with potential CDH recurrence or the development of respiratory or abdominal symptoms during pregnancy.