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Prenatal diagnosis of acrania/exencephaly/anencephaly sequence (AEAS): additional structural and genetic anomalies

  • Maternal-Fetal Medicine
  • Published:
Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

Abstract

Objectives

To analyse additional structural and genetic anomalies in fetuses with acrania/exencephaly/anencephaly sequence (AEAS).

Methods

A retrospective analysis of 139 fetuses with AEAS diagnosed between 2006 and 2020 in a single tertiary referral ultrasound department.

Results

The median gestational age at diagnosis decreased from 15 weeks in 2006 to 13 weeks in 2020 (− 0.21 per each year; p = 0.009). In 103 fetuses, the defects were limited to the neural tube (NTD) (74.1%), in 36 fetuses (25.9%), there were additional structural non-NTD anomalies. The most common were ventral body wall defects present in 17.8% (23/139), followed by anomalies of the limbs (7.2%; 10/139), face (6.5%; 9/139) and heart (6.5%; 9/139). Genetic anomalies were diagnosed in 7 of the 74 conclusive results (9.5%; 7/74; trisomy 18, n = 5; triploidy, n = 1; duplication of Xq, n = 1). In univariate logistic regression models, male sex, limb anomalies and ventral body wall defects significantly increased the risk of genetic anomalies (OR 12.3; p = 0.024; OR 16.5; p = 0.002 and OR 10.4; p = 0.009, respectively).

Conclusions

A significant number of fetuses with AEAS have additional structural non-NTD anomalies, which are mostly consistent with limb body wall complex. Genetic abnormalities are diagnosed in almost 10% of affected fetuses and trisomy 18 is the most common aberration. Factors that significantly increased the odds of genetic anomalies in fetuses with AEAS comprise male sex, limb anomalies and ventral body wall defects.

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Data availability statement

Data available on request from the authors.

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Acknowledgements

We thank patients and health professionals for collaboration.

Funding

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Authors and Affiliations

  1. Department of Gynecologic Oncology and Obstetrics, Professor Witold Orlowski Public Teaching Hospital, Warsaw, Poland

    Julia Bijok, Sylwia Dąbkowska, Diana Massalska, Grzegorz Panek & Tomasz Roszkowski

  2. Department of Gynecologic Oncology and Obstetrics, Centre of Postgraduate Medical Education, ul. Czerniakowska 231, 00413, Warsaw, Poland

    Julia Bijok, Diana Massalska, Grzegorz Panek & Tomasz Roszkowski

  3. Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland

    Anna Kucińska-Chahwan & Beata Nowakowska

  4. Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland

    Sylwia Gawlik-Zawiślak

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Contributions

JB and TR contributed to the study conception and design. Data collection was performed by JB, SD, TR, BN and SG-Z. Material preparation and analysis were performed by JB, AK-C and DM. The first draft of the manuscript was written by JB and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Correspondence to Julia Bijok.

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Bijok, J., Dąbkowska, S., Kucińska-Chahwan, A. et al. Prenatal diagnosis of acrania/exencephaly/anencephaly sequence (AEAS): additional structural and genetic anomalies. Arch Gynecol Obstet 307, 293–299 (2023). https://doi.org/10.1007/s00404-022-06584-3

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