As a result of the wide availability of genetic testing, including chromosomal microarray (CMA) and next-generation sequencing-based techniques (covering exome/genome, WES/WGS), the number of new diagnoses of many rare diseases (RDs) is constantly growing. This is the case also for developmental disorders which manifest prenatally, as abnormal ultrasound scanning or screening tests. However, our clinical knowledge regarding manifestation, natural history and treatment efficacy in many of such diseases is unfortunately still limited. From the clinical genetics and obstetritians perspectives there is therefore a strong need to conduct new investigations and, particularly, disseminate knowledge about RDs from the antenatal period.
The goals of the proposed Research Topic are to increase our awareness and understanding regarding genetic etiology and prenatal manifestation of congenital anomalies/developmental delay disorders. We aim to present a comprehensive picture of these disorders, including prenatal clinical manifestation (optimally in terms of specific organs), diagnostic techniques, underlying pathomechanisms, and proposing potential treatments.
Our areas of particular interest include:
* genetic causes of intrauterine growth restriction (IUGR),
* genetic background of intrahepatic cholestasis (IC),
* prenatal manifestation and genetic assessment of rare multiple malformations syndromes,
* application of next-generation sequencing (NGS) technology in prenatal diagnostics.
We welcome Original Research, Review, Hypothesis and Case Reports (following the guidelines of the section) articles covering all aspects of prenatal manifestation and genetic diagnostics of congenital anomalies/developmental delay disorders:
- Genetic background
- Confirmatory diagnostics procedures
- Pathological mechanisms
- Key clinical features
- Prenatal treatment options
- Follow-up and postnatal recommendations
As a result of the wide availability of genetic testing, including chromosomal microarray (CMA) and next-generation sequencing-based techniques (covering exome/genome, WES/WGS), the number of new diagnoses of many rare diseases (RDs) is constantly growing. This is the case also for developmental disorders which manifest prenatally, as abnormal ultrasound scanning or screening tests. However, our clinical knowledge regarding manifestation, natural history and treatment efficacy in many of such diseases is unfortunately still limited. From the clinical genetics and obstetritians perspectives there is therefore a strong need to conduct new investigations and, particularly, disseminate knowledge about RDs from the antenatal period.
The goals of the proposed Research Topic are to increase our awareness and understanding regarding genetic etiology and prenatal manifestation of congenital anomalies/developmental delay disorders. We aim to present a comprehensive picture of these disorders, including prenatal clinical manifestation (optimally in terms of specific organs), diagnostic techniques, underlying pathomechanisms, and proposing potential treatments.
Our areas of particular interest include:
* genetic causes of intrauterine growth restriction (IUGR),
* genetic background of intrahepatic cholestasis (IC),
* prenatal manifestation and genetic assessment of rare multiple malformations syndromes,
* application of next-generation sequencing (NGS) technology in prenatal diagnostics.
We welcome Original Research, Review, Hypothesis and Case Reports (following the guidelines of the section) articles covering all aspects of prenatal manifestation and genetic diagnostics of congenital anomalies/developmental delay disorders:
- Genetic background
- Confirmatory diagnostics procedures
- Pathological mechanisms
- Key clinical features
- Prenatal treatment options
- Follow-up and postnatal recommendations