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Updated: Jun 21, 2025
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Published on: January 28, 2014
Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management
Laura Avagliano1, Silvia Castiglioni2, Antonella Lettieri2
1Università degli Studi di Milano, Milan, Italy.
Insights
Chromatinopathies, genetic disorders affecting chromatin, often cause abnormal postnatal growth. Early pregnancy findings, though scarce, may aid in diagnosing these conditions affecting fetal growth.
Area of Science:
- Genetics
- Developmental Biology
- Pediatric Endocrinology
Background:
- Chromatinopathies are genetic disorders impacting chromatin regulation.
- Many chromatinopathies are associated with abnormal postnatal growth (both undergrowth and overgrowth).
- Intrauterine growth abnormalities may indicate potential postnatal growth issues.
Purpose of the Study:
- To review and synthesize available literature on prenatal findings in specific chromatinopathies.
- To highlight the potential diagnostic value of early pregnancy data for chromatinopathies.
- To call for more detailed reporting of pregnancy findings in these genetic disorders.
Main Methods:
- Literature review focusing on six well-documented chromatinopathies.
- Analysis of molecular characteristics, maternal biochemical results, early pregnancy findings, prenatal ultrasound, and postnatal outcomes.
- Categorization of syndromes into fetal overgrowth (Sotos, Weaver) and undergrowth (Bohring Opitz, Cornelia de Lange, Floating-Harbor, Meier Gorlin).
Main Results:
- Data on prenatal findings in chromatinopathies are currently limited and inconclusive.
- Specific examples of fetal overgrowth and undergrowth syndromes were examined.
- The study synthesized existing information on molecular, maternal, and fetal characteristics.
Conclusions:
- Prenatal findings, despite being scarce, are crucial for early and accurate diagnosis of chromatinopathies.
- Further detailed research on pregnancy findings is needed.
- Improved understanding of intrauterine growth patterns can inform postnatal management.
Background:
Chromatinopathies are a heterogeneous group of genetic disorders caused by pathogenic variants in genes coding for chromatin state balance proteins. Remarkably, many of these syndromes present unbalanced postnatal growth, both under- and over-, although little has been described in the literature. Fetal growth measurements are common practice in pregnancy management and values within normal ranges indicate proper intrauterine growth progression; on the contrary, abnormalities in intrauterine fetal growth open the discussion of possible pathogenesis affecting growth even in the postnatal period.
Methods:
Among the numerous chromatinopathies, we have selected six of the most documented in the literature offering evidence about two fetal overgrowth (Sotos and Weaver syndrome) and four fetal undergrowth syndromes (Bohring Opitz, Cornelia de Lange, Floating-Harbor, and Meier Gorlin syndrome), describing their molecular characteristics, maternal biochemical results and early pregnancy findings, prenatal ultrasound findings, and postnatal characteristics.
Results/Conclusion:
To date, the scarce data in the literature on prenatal findings are few and inconclusive, even though these parameters may contribute to a more rapid and accurate diagnosis, calling for a better and more detailed description of pregnancy findings.
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