Maternal-Fetal Medicine

Building Your Care Team and Planning for the Future

At a Glance

Managing an alobar holoprosencephaly (HPE) diagnosis requires a multidisciplinary medical team, including maternal-fetal medicine, neonatology, and palliative care specialists. Understanding the genetic cause through testing is essential, as the risk of HPE in future pregnancies can range from under 1% to 50%.

Navigating a diagnosis of alobar holoprosencephaly (HPE) requires a team of experts who not only understand the complex science of the condition but also respect your family’s values and goals. Building this team early helps ensure that the care your baby receives is consistent, transparent, and aligned with your wishes ^[1]^[2].

Your Essential Specialists

A multidisciplinary approach is the gold standard for managing HPE, as the condition affects multiple systems of the body ^[3]^[4].

Maternal-Fetal Medicine (MFM): These are obstetricians who specialize in high-risk pregnancies. They monitor the health of both the mother and the baby and coordinate prenatal diagnostic testing ^[5]^[6].
Medical Geneticist: This specialist uses advanced testing (like trio-based exome sequencing) to find the underlying cause of the HPE ^[7]^[8]. They are crucial for helping you understand the risk of the condition happening again in future pregnancies ^[9].
Neonatologist: A doctor who specializes in the care of newborns, especially those with complex medical needs. They will lead the medical team in the nursery or NICU ^[3].
Perinatal Palliative Care Team: This team focuses on “advance care planning” or birth planning ^[2]. Their goal is to ensure your baby’s comfort and your family’s quality of life, acting as a bridge between all other specialists ^[10]^[1].
Pediatric Specialists: Depending on your baby’s specific needs, you may also consult with Neurosurgeons (for hydrocephalus management) or Endocrinologists (for hormone issues like diabetes insipidus) ^[11]^[12].

Aligning Goals with Your Team

It is vital that your medical team views you as a partner. You may want to ask potential care providers specific questions to ensure they respect your perspective:

“How do you support families who choose a comfort-focused (palliative) path rather than intensive intervention?”
“Can you walk me through how our ‘Birth Plan’ will be shared with everyone who might be in the delivery room?” ^[2]
“What is your process for evolving the care plan if our baby’s condition changes after birth?” ^[1]

Planning for the Future: Recurrence Risks

One of the most common questions parents have is: “Will this happen again?” The answer depends entirely on the “why” behind the diagnosis ^[9]^[13].

Underlying Cause	Recurrence Risk Estimate
Chromosomal (e.g., Trisomy 13)	Generally low (often <1%), unless a parent carries a specific “balanced translocation” ^[14]^[15].
Single-Gene Mutation (Inherited)	Can be as high as 50% if a parent carries an autosomal dominant mutation (like in the SHH gene) ^[9]^[16].
Single-Gene Mutation (De Novo)	Very low, as the mutation happened for the first time in the baby ^[17].
Unknown/Multifactorial	Often estimated at around 1–5%, though this is a general estimate and varies by case ^[13]^[18].

Because of variable expressivity, a parent can carry a gene mutation and have very mild signs (like a single central front tooth) while their child has alobar HPE ^[16]^[19]. This is why trio testing—testing both biological parents alongside the baby—is the most effective way to get accurate answers for future planning ^[17]^[20]. Your genetic counselor will be your primary guide through this complex information ^[21].

Common questions in this guide

What doctors are needed for a baby with alobar holoprosencephaly?

Your child's care team will likely include maternal-fetal medicine specialists, neonatologists, medical geneticists, and a perinatal palliative care team. Depending on your baby's specific needs, pediatric specialists like neurosurgeons or endocrinologists may also be involved.

How does a perinatal palliative care team help our family?

A perinatal palliative care team focuses on advance care planning and birth planning. They act as a bridge between all your other specialists to ensure your baby's comfort and to make sure your family's personal and medical goals are respected in the delivery room.

What is the risk of having another child with alobar holoprosencephaly?

The recurrence risk depends entirely on the underlying genetic cause. If the condition is caused by a chromosomal issue like Trisomy 13 or a random new mutation, the risk is typically low. However, if an inherited single-gene mutation is involved, the risk can be as high as 50 percent.

Why is a medical geneticist important for an HPE diagnosis?

A medical geneticist can perform advanced tests, like trio-based exome sequencing, to find the exact genetic cause of the condition. This information is crucial for understanding why the diagnosis happened and determining the specific risk for any future pregnancies.

How can a parent carry a gene mutation for HPE but only have mild signs?

This happens because of something called variable expressivity, meaning the same genetic mutation can affect people differently. A parent might carry the gene and only have a very mild sign, like a single central front tooth, while their child develops severe alobar holoprosencephaly.

Curated prompts to bring to your next appointment.

1.Who will be the 'lead' coordinator for our child's care across all these different specialties?
2.If our baby is born at night or on a weekend, how will the on-call staff be made aware of our specific goals and birth plan?
3.Can you provide us with a written summary of the genetic findings to take to a genetic counselor for future planning?
4.How does your team handle disagreements between medical recommendations and a family's personal or religious goals?
5.What support services (social work, chaplaincy, bereavement counseling) are integrated into our care team right now?

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

References (21)

1
Role of palliative care in fetal neurological consultations: Guiding through uncertainty and hope.
Cortezzo DE, Vawter-Lee M, Shoaib A, Venkatesan C
Frontiers in pediatrics 2023; (11()):1205543 doi:10.3389/fped.2023.1205543.
PMID: 37334218
2
Perinatal Palliative Care Birth Planning as Advance Care Planning.
Cortezzo DE, Ellis K, Schlegel A
Frontiers in pediatrics 2020; (8()):556 doi:10.3389/fped.2020.00556.
PMID: 33014940
3
Prenatal diagnosis of holoprosencephaly.
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PMID: 29770996
4
Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies.
Sakaria RP, Zaveri PG, Holtrop S, et al.
Frontiers in genetics 2021; (12()):766316 doi:10.3389/fgene.2021.766316.
PMID: 34899850
5
The Role of Antenatal Ultrasound Scans in the Early Detection of Alobar Holoprosencephaly: A Case Report.
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Cureus 2024; (16(10)):e70843 doi:10.7759/cureus.70843.
PMID: 39493208
6
Phenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center.
Caropeboka MFA, Nisa AS, Pramatirta AY, et al.
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PMID: 41710465
7
Novel heterozygous variants in KMT2D associated with holoprosencephaly.
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Clinical genetics 2019; (96(3)):266-270 doi:10.1111/cge.13598.
PMID: 31282990
8
Reply: Another case of holoprosencephaly associated with RAD21 loss-of-function variant.
Kruszka P
Brain : a journal of neurology 2020; (143(8)):e65 doi:10.1093/brain/awaa177.
PMID: 32712652
9
Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management.
Malta M, AlMutiri R, Martin CS, Srour M
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PMID: 37189898
10
Longitudinal Perinatal Palliative Care for Severe Fetal Neurologic Diagnoses.
Humphrey LM, Schlegel AB
Seminars in pediatric neurology 2022; (42()):100965 doi:10.1016/j.spen.2022.100965.
PMID: 35868733
11
Surgical Nuances in Ultrasound-Guided Percutaneous Distal Catheter Placement in Pediatric Ventriculoatrial Shunts.
Reynoso LG, Rodríguez Lezama A, Hernández Martínez CA, et al.
Cureus 2025; (17(5)):e84345 doi:10.7759/cureus.84345.
PMID: 40535372
12
[Alobar holoprosencephaly associated with diabetes insipidus and hypothyroidism in a 10-month old infant].
Seck N, Basse I, Keita Y, et al.
The Pan African medical journal 2017; (28()):193 doi:10.11604/pamj.2017.28.193.11288.
PMID: 29599891
13
Syndromes associated with holoprosencephaly.
Kruszka P, Muenke M
American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(2)):229-237 doi:10.1002/ajmg.c.31620.
PMID: 29770994
14
Phenotypic and cytogenetic variability of patau syndrome in Morocco.
Hammou HA, Sennaoui M, Bouzid F, et al.
African health sciences 2023; (23(4)):575-581 doi:10.4314/ahs.v23i4.60.
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15
Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations.
El-Dessouky SH, Aboulghar MM, Gaafar HM, et al.
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16
Recent advances in understanding inheritance of holoprosencephaly.
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17
Low-level parental mosaicism affects the recurrence risk of holoprosencephaly.
Hu P, Martinez AF, Kruszka P, et al.
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18
Identifying environmental risk factors and gene-environment interactions in holoprosencephaly.
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19
SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly.
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20
Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.
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21
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This page is for informational purposes only and does not replace professional medical advice. Always consult your healthcare providers and a genetic counselor regarding your specific care plan and future pregnancy risks.

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