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PubMed This is a summary of 55 peer-reviewed journal articles Updated
Obstetrics

Navigating a Diagnosis of Iniencephaly

At a Glance

Iniencephaly is a rare, complex neural tube defect that occurs early in pregnancy due to genetic and environmental factors. It is never the parents' fault. Families face difficult choices, including termination for medical reasons or perinatal palliative care.

Receiving a diagnosis of iniencephaly is an overwhelming and heartbreaking experience. It is important to know immediately that this is a rare, complex condition that occurs very early in pregnancy [1][2]. Most importantly, please understand that nothing you did caused this [3][4]. Neural tube defects like iniencephaly result from a combination of complex genetic and environmental factors that are beyond a parent’s control [1][5].

This guide is designed to help you understand your baby’s diagnosis, the tests your doctors are performing, and the difficult choices you are facing. It is normal to feel shocked and terrified. Take your time, read only what you feel ready for, and lean on your support system.

In This Guide

01

Understanding the Diagnosis of Iniencephaly

Learn about the diagnosis of iniencephaly, a severe neural tube defect. Understand the types, associated challenges, and what this prognosis means for your baby.

02

Confirming the Diagnosis: Imaging and Testing

Learn how iniencephaly is diagnosed during pregnancy. Understand the role of prenatal ultrasounds, fetal MRIs, the stargazing posture, and genetic testing.

03

Pregnancy Options: TFMR and Perinatal Palliative Care

Learn about pregnancy options following an iniencephaly diagnosis. Understand the paths of TFMR and perinatal palliative care, plus maternal health risks.

04

Future Pregnancies: Recurrence Risk and Prevention

Planning a pregnancy after iniencephaly? Learn about NTD recurrence risks, high-dose folic acid guidelines, and how your future pregnancies will be monitored.

Finding Support

You do not have to navigate this alone. Because this condition is so rare, you may feel incredibly isolated. We strongly recommend seeking out specialized peer support groups, such as those for Termination for Medical Reasons (TFMR), perinatal palliative care, or neonatal infant loss. Connecting with others who have walked this path can provide essential psychological support during a time when friends and family may not fully understand the complexities of your grief.

Common questions in this guide

What causes iniencephaly?
Iniencephaly is a neural tube defect resulting from a combination of complex genetic and environmental factors that occur very early in pregnancy. It is important to remember that nothing you did caused this condition.
What are my options after my baby is diagnosed with iniencephaly?
After an iniencephaly diagnosis, your main medical options typically include termination for medical reasons (TFMR) or continuing the pregnancy with perinatal palliative care. Your care team can help explain the medical, emotional, and legal considerations for your specific situation.
Where can I find emotional support after this diagnosis?
Because iniencephaly is incredibly rare, specialized peer support groups are highly recommended. Look for groups focused on termination for medical reasons (TFMR), perinatal palliative care, or neonatal infant loss to connect with others who understand this specific type of grief.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Who will serve as the primary coordinator for my care among the different specialists (obstetrician, genetic counselor, palliative care)?
  2. 2.Are there specific social workers or grief counselors affiliated with your practice that you recommend?
  3. 3.What are the legal time limits in our state if we are considering termination for medical reasons (TFMR)?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (5)
  1. 1

    Surgical Outcome in an Iniencephaly Survivor: Case Report and Review of the Literature.

    Khatri D, Gosal JS, Joseph J, et al.

    World neurosurgery 2019; (129()):105-109 doi:10.1016/j.wneu.2019.05.202.

    PMID: 31150861
  2. 2

    Iniencephaly.

    Holmes LB, Toufaily MH, Westgate MN

    Birth defects research 2018; (110(2)):128-133 doi:10.1002/bdr2.1082.

    PMID: 29377645
  3. 3

    Association between maternal exposure to ambient PM10 and neural tube defects: A case-control study in Liaoning Province, China.

    Zhang JY, Wu QJ, Huang YH, et al.

    International journal of hygiene and environmental health 2020; (225()):113453 doi:10.1016/j.ijheh.2020.113453.

    PMID: 31986338
  4. 4

    Single and mixed effects of metallic elements in maternal serum during pregnancy on risk for fetal neural tube defects: A Bayesian kernel regression approach.

    Tian T, Yin S, Jin L, et al.

    Environmental pollution (Barking, Essex : 1987) 2021; (285()):117203 doi:10.1016/j.envpol.2021.117203.

    PMID: 33932758
  5. 5

    Closing in on Mechanisms of Open Neural Tube Defects.

    Lee S, Gleeson JG

    Trends in neurosciences 2020; (43(7)):519-532 doi:10.1016/j.tins.2020.04.009.

    PMID: 32423763

This page provides informational support for parents navigating a fetal diagnosis of iniencephaly. It does not replace professional medical advice, so please consult your obstetrician or genetic counselor regarding your specific pregnancy options.

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