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Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.

Authors :
Senturk, Leyli
Gulec, Cagri
Sarac Sivrikoz, Tugba
Kayserili, Hulya
Kalelioglu, Ibrahim Halil
Avci, Sahin
Has, Recep
Coucke, Paul
Kalayci, Tugba
Wollnik, Bernd
Karaman, Birsen
Toksoy, Guven
Symoens, Sofie
Yigit, Gokhan
Yuksel, Atil
Basaran, Seher
Tuysuz, Beyhan
Altunoglu, Umut
Uyguner, Zehra Oya
Source :
Fetal Diagnosis & Therapy. 2024, Vol. 51 Issue 3, p285-299. 15p.
Publication Year :
2024

Abstract

Introduction: Counseling osteogenesis imperfecta (OI) pregnancies is challenging due to the wide range of onsets and clinical severities, from perinatal lethality to milder forms detected later in life. Methods: Thirty-eight individuals from 36 families were diagnosed with OI through prenatal ultrasonography and/or postmortem clinical and radiographic findings. Genetic analysis was conducted on 26 genes associated with OI in these subjects that emerged over the past 20 years; while some genes were examined progressively, all 26 genes were examined in the group where no pathogenic variations were detected. Results: Prenatal and postnatal observations both consistently showed short limbs in 97%, followed by bowing of the long bones in 89%. Among 32 evaluated cases, all exhibited cranial hypomineralization. Fractures were found in 29 (76%) cases, with multiple bones involved in 18 of them. Genetic associations were disclosed in 27 families with 22 (81%) autosomal dominant and five (19%) autosomal recessive forms, revealing 25 variants in six genes (COL1A1, COL1A2, CREB3L1, P3H1, FKBP10, and IFITM5), including nine novels. Postmortem radiological examination showed variability in intrafamily expression of CREBL3- and P3H1-related OI. Conclusion: Prenatal diagnosis for distinguishing OI and its subtypes relies on factors such as family history, timing, ultrasound, genetics, and postmortem evaluation. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
10153837
Volume :
51
Issue :
3
Database :
Academic Search Index
Journal :
Fetal Diagnosis & Therapy
Publication Type :
Academic Journal
Accession number :
177720124
Full Text :
https://doi.org/10.1159/000536324