Importance: Craniosynostosis is a fetal condition caused by premature closure of the cranial sutures. Through provider awareness, we can raise suspicion in high-risk individuals, increase prenatal detection, optimize genetic testing, perform appropriate antenatal surveillance and delivery planning, and allow for a comprehensive, multidisciplinary approach to treatment.
Objective: The aim of this study was to review what is currently known regarding the genetics, pathophysiology, diagnosis, and treatment of craniosynostosis for the obstetric care provider.
Evidence Acquisition: A comprehensive literature review was performed using the PubMed database with the search term "craniosynostosis." The search was limited to the English language.
Results: A total of 220 articles were identified, and a total of 53 were used in completion of this article. The results highlight the multiple factors involved with abnormal suture formation, including various genetic factors. Although rare at this time, prenatal detection can allow families to prepare and practitioners to provide appropriate clinical treatment. Both 3-dimensional sonography and magnetic resonance imaging have been identified as modalities to aid in detection for high-risk individuals. Early referral allows for less-invasive surgical outcomes with lower complication rates.
Results: Familiarity with craniosynostosis among obstetric providers can improve patient counseling, prenatal detection rates, and appropriate antepartum, intrapartum, and postpartum counseling.
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http://dx.doi.org/10.1097/OGX.0000000000000830 | DOI Listing |
Front Pediatr
January 2025
Department of Neurology, Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Background: Whole exome sequencing (WES) technology has been increasingly used for the etiological diagnosis of fetuses with ultrasound anomalies. In this article, we report a novel deletion compound combined with a causative variant in gene leading to short-rib thoracic dysplasia 7 (SRTD7) with or without polydactyly using WES.
Methods: This study involved a Chinese fetus with clinical features of skeletal dysplasia on ultrasound imaging, in whom chromosome abnormalities and copy number variants (CNVs) were detected by chromosomal microarray analysis (CMA), and sequence variants were detected by WES.
Front Genet
January 2025
Department of Laboratory, The Second People's Hospital of Yibin City, Yibin, Sichuan, China.
Objective: This study aims to assess the diagnostic efficacy of a combined approach integrating chromosomal karyotyping, copy number variation sequencing (CNV-seq), and quantitative fluorescence polymerase chain reaction (QF-PCR) in detecting chromosomal abnormalities in high-risk pregnancies.
Methods: This retrospective study analyzed 617 high-risk pregnancies undergoing prenatal diagnosis from February 2023 to August 2024, with amniotic fluid samples concurrently analyzed using karyotyping, CNV-seq, and QF-PCR. We evaluated clinical characteristics, diagnostic yields, and inter-method concordance rates.
Orphanet J Rare Dis
January 2025
Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Background: Noninvasive prenatal diagnosis (NIPD) has been proven feasible for non-syndromic hearing loss (NSHL) in singleton pregnancies. However, previous research is limited to the second trimester and the application in twin pregnancies is blank. Here we provide a novel algorithmic approach to assess singleton and twin pregnancies in the first trimester.
View Article and Find Full Text PDFInt J Reprod Biomed
November 2024
Department of Obstetrics and Gynecology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Background: Noninvasive perinatal testing is a new method of screening for aneuploidy called cell-free DNA (cfDNA). Fetal fraction (FF) plays a crucial role in assessing the reliability of aneuploidy detection through noninvasive perinatal testing.
Objective: We aimed to investigate the association between the amount of FF in cfDNA testing and adverse pregnancy outcomes.
Prenat Diagn
January 2025
Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproductive Endocrinology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Prenatal cell-free DNA (cfDNA) screening has advanced significantly, extending beyond detecting aneuploidies to sub-chromosomal copy number variations. However, its application for screening dominant single-gene conditions, often caused by de novo variants, remains underutilized in the general obstetric population. This study reviews recent data and experience on prenatal cfDNA screening for dominant monogenic conditions using multiple-gene panels, highlighting its potential to enhance early detection and management of genetic disorders.
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