Genetic syndromes associated with isolated fetal growth restriction |
| |
| Authors: | Eva Meler Silvina Sisterna Antoni Borrell |
| |
| Institution: | 1. BCNatal - Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Deu), Institut Clinic de Ginecologia, Obstetricia i Neonatologia, IDIBAPS, University of Barcelona, Fetal i+D Fetal Medicine Research, and Centre for Biomedical Research on Rare Diseases (CIBER-ER), Barcelona, Catalonia, Spain;2. Clinical Genetics and Prenatal Diagnosis, Hospital Privado de Comunidad – Maternal Fetal Medicine, Clínica Colon – Reproduction and human genetics center CRECER. Mar del Plata, Buenos Aires, Argentina |
| |
| Abstract: | Early onset fetal growth restriction (FGR) may be due to impaired placentation, environmental or toxic exposure, congenital infections or genetic abnormalities. Remarkable research, mainly based on retrospective series, has been published on the diverse genetic causes. Those have become more and more relevant with the improvement in the accuracy of the analysis techniques and the rising of breakthrough genomewide methods such as the whole genome sequencing. However, no publication has presented an integrated view of management of those fetuses with an early and severe affection. In this review, we explored to which extent genetic syndromes can cause FGR fetuses without structural defects. The most common chromosomal abnormalities (Triploidies and Trisomy 18), submicroscopic chromosomal anomalies (22q11.2 microduplication syndrome) and single gene disorders (often associated with mild ultrasound findings) related to early and severe FGR had been analysed. Finally, we addressed the impact of epigenetic marks on fetal growth, a matter of growing importance. At the end of this review, we should be able to provide an adequate counseling to parents in terms of diagnosis, prognosis and management of those pregnancies. |
| |
| Keywords: | |
|
|
