Spectrum of neurodevelopmental disabilities in a cohort of children in Hungary

Abstract

Endreffy E. Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases. Mol Cytogenet.

The role of next‐generation sequencing in the investigation of ultrasound‐identified fetal structural anomalies

“…3,4 Therefore, approximately 60% of these pregnancies do not have a prospectively identified genomic diagnosis that would guide prognostic information giving and counselling. 5 A proportion of these 'unsolved' cases may be the result of monogenic disease. Information from a family pedigree, previous obstetric history and knowledge of consanguinity may be helpful in the assessment of these pregnancies.…”

“…Overall, QF PCR demonstrates autosomal trisomy in 30%, karyotyping detects pathogenic unbalanced chromosomal rearrangements in 5%, and CMA detects imbalances in up to 6.5% of structural abnormal fetuses 3,4 . Therefore, approximately 60% of these pregnancies do not have a prospectively identified genomic diagnosis that would guide prognostic information giving and counselling 5 . A proportion of these ‘unsolved’ cases may be the result of monogenic disease.…”

Prenatal exome sequencing for fetuses with structural abnormalities: the next step

“…Knowing the cause of a congenital structural anomaly can aid clinicians in making a more accurate diagnosis and provides information about prognosis and recurrence risks for parents. Despite the importance of diagnosis, currently, only a minority of children affected by congenital and developmental diseases receive a genetic diagnosis.…”

“…Numerous genetic mechanisms account for the development of congenital structural abnormalities, of which the most common are aneuploidy, deletions and duplications of segments of DNA, known collectively as copy number variants (CNVs), and single nucleotide variants (SNVs) in protein-coding sequences that damage the encoded protein 3 -7 . Knowing the cause of a congenital structural anomaly can aid clinicians in making a more accurate diagnosis and provides information about prognosis and recurrence risks for parents. Despite the importance of diagnosis, currently, only a minority of children affected by congenital and developmental diseases receive a genetic diagnosis 8 .…”