Genetic Counseling of Fetal Microcephaly

Shu-Chin Chien; Chih-Ping Chen

doi:10.4103/jmu.jmu_18_23

Genetic Counseling of Fetal Microcephaly

J Med Ultrasound. 2024 Mar 21;32(1):1-7. doi: 10.4103/jmu.jmu_18_23. eCollection 2024 Jan-Mar.

Authors

Shu-Chin Chien¹, Chih-Ping Chen^{2

3

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7

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Affiliations

¹ Kan-Ru Clinic, New Taipei, Taiwan.
² Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
³ Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
⁴ School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan.
⁵ Department of Biotechnology, Asia University, Taichung, Taiwan.
⁶ Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan.
⁷ Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
⁸ Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan.

Abstract

Fetal microcephaly is a small head with various losses of cerebral cortical volume. The affected cases may suffer from a wide range in severity of impaired cerebral development from slight to severe mental retardation. It can be an isolated finding or with other anomalies depending on the heterogeneous causes including genetic mutations, chromosomal abnormalities, congenital infectious diseases, maternal alcohol consumption, and metabolic disorders during pregnancy. It is often a lifelong and incurable condition. Thus, early detection of fetal microcephaly and identification of the underlying causes are important for clinical staff to provide appropriate genetic counseling to the parents and accurate management.

Keywords: Congenital infections; fetal microcephaly; genetic counseling; genetic mutations; metabolic diseases.

Publication types

Review