Research of genetic data in patients with polyhydramnios detected in the intrauterine period

Objective : Polyhydramnios is defined as increased amniotic fluid volume (amniotic fluid index [AFI] > 25 cm or single deep pocket [SDP] > 8 cm). In the studies conducted, genetic anomalies have been reported in a wide range of 8%-45% in the etiological investigations of polyhdroamniosis. Our aim in this study is to investigate the postnatal and childhood development, additional anomalies, clinical and radiological findings and genetically based definitive etiologies of cases with polyhydramnios in the intrauterine period. Material and Methods: Among the patients who applied to Afyonkarahisar Health Sciences University Hospital, Department of Medical Genetics between 2014 and 2021, patients who were found to have "polyhydromaniosis" in the prenatal period were selected retrospectively. Then, among these patients, those who underwent molecular or cytogenetic or both genetic analysis were recruited. As a result of these analyzes, 17 patients with genetically proven etiology of the disease were selected. In addition, Whole Exome Sequencing analysis was planned for 8 patients who did not undergo genetic analysis. Results: A total of 25 patients were included in the study, and the diagnosis was resulted by karyotype analysis in 7 patients, Whole Exome Sequencing analysis in 9 patients, specific whole gene sequence analysis in 7 patients, and arrayCGH analysis in 4 patients (2 patients had 2 different genetic diseases). The most common disease group was found to be the disease group with mental retardation/neuromotor retardation (6 patients), skeletal dysplasia disease group (6 patients), and chromosomal aneuplady disease group (6 patients). These were followed by the chromosomal rearrangement disease group (4 patients), the rassotapy disease group (2 patients), the disease group with macrocephaly (1 patient), and the congenital muscular dystrophy group (1 patient). Neuromotor developmental delay was found in 13 of the patients and speech delay was found in 10 patients. Conclusion: Polyhdroamniosis is a parameter that should be considered and questioned in diseases with genetic etiology. In this study, polyhydrodroamniosis was presented as an important marker especially in diseases with chromosomal aneuplady, skeletal dysplasia and neuromotor developmental delay. Keywords: Polyhydramnios, Skeletal dysplasia, Chromosomal aneuploidy.