Treatment Strategy & Care Decisions: At Birth and Beyond

Facing the birth of a child with Fryns syndrome involves navigating some of the most difficult decisions a parent can ever make. Because the condition is so rare and often life-threatening, you will likely be asked to choose between two main paths of care: maximal intervention and palliative (comfort) care.

What to Expect in the Delivery Room

Depending on the path you choose, the delivery room experience will look and feel very different.

• If choosing Maximal Intervention: The room will be crowded. A large team of neonatal specialists (NICU team) will be present. When the baby is born, they will be immediately taken to a warming table. There will likely be no “first cry,” as the team will work rapidly to secure a breathing tube ^[1]. It is a high-stress, fast-paced environment.
• If choosing Palliative Care: The room will be much quieter and focused on your family. The medical staff will step back once the baby is safely delivered. The baby will be placed immediately on your chest for skin-to-skin contact, and the focus will be on peaceful bonding ^[2][3].

Maximal Intervention: Fighting for Every Moment

Choosing maximal intervention means the medical team will use the tools available to support your baby’s life, though this path is physically intense and carries no guarantees.

• Difficult Airway Management: Due to the facial and jaw differences common in Fryns syndrome, placing a breathing tube (intubation) can be extremely challenging immediately after birth ^[1].
• Mechanical Ventilation: Once intubated, the baby is placed on a ventilator to help them breathe.
• The Reality of ECMO: For infants with isolated CDH (no genetic syndrome), a heart-lung bypass machine called ECMO is sometimes used to rest the lungs ^[4]. However, in cases of severe syndromic CDH like Fryns syndrome, the lung underdevelopment (pulmonary hypoplasia) is usually irreversible. Because of this, standard clinical guidelines generally consider Fryns syndrome an absolute contraindication for ECMO. It is rarely offered, as it cannot fix the underlying lung damage and serves only to prolong suffering ^[5][6].
• Surgical Repair: If the baby somehow stabilizes on a ventilator, surgeons can perform a procedure to close the hole in the diaphragm. It is crucial to understand that surgery fixes the hole, but it cannot make the lungs grow ^[7]. The survival-to-discharge rate for infants with Fryns syndrome who undergo these interventions is approximately 17% ^[8].

Palliative Care: Focusing on Comfort and Connection

Palliative care (often called comfort care) is not about “giving up.” It is a specialized medical approach focused on ensuring your baby is never in pain, is held by you, and spends their time in peace ^[5].

• Maternal Health and Delivery: Choosing palliative care often allows you to prioritize the mother’s health. For example, you may opt for a vaginal delivery instead of a high-risk C-section, because fetal heart monitoring during labor is no longer the primary driver of medical decisions ^[7][3].
• Goal of Care: The focus shifts from life-prolonging machines to quality of life. This includes providing medicine for comfort and creating memories like footprints or photos ^[2][3].

A Framework for Decision-Making

You may find it helpful to look at these options as a choice of “goals.” There is no right or wrong answer; there is only the choice that feels most loving for your family.

The Role of the Multidisciplinary Team

Regardless of the path you choose, you should be supported by a team that includes neonatologists (newborn specialists), pediatric surgeons, and palliative care specialists ^[9][10]. Current guidelines emphasize early integration of palliative care so that parents have time to build relationships with the team before a crisis occurs ^[10].

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