Engy A. Ashaat
National Research Centre, Clinical Genetics Department, Egypt
Title: Achievement and Experience in Multiple Congenital Anomalies Syndromes
Biography
Biography: Engy A. Ashaat
Abstract
A congenital anomaly is defined as a structural defect, present at birth. These anomalies can be further divided into major anomalies that require medical and surgical care (eg, congenital heart defect, cleft palate, meningomyelocele) and minor anomalies that do not have medical significance (eg, single palmar crease, epicanthal folds, fifth digit clinodactyly). An estimated 303 000 newborns die within 4 weeks of birth every year, worldwide, due to congenital anomalies. However, Malformations can cause >20% of neonatal death. diagnosis of MCA and proper counseling could affect prognosis and reduce the risk of recurrence. Only a few common MCA syndromes are life-threatening in the neonatal period. Causes of MCA syndromes include chromosomal abnormalities, monogenic disorders, multifactorial disorders, and unknown. Objectives : Diagnoses of the MCA syndromes for proper prenatal follow up and reduce recurrent risk In next pregnancy. Methods : Cytogenetics studies including (karyotype,FISH, MLPA, array CGH), Molecular Study including Sanger Sequencing and NGS, Whole Exom Sequencing (WES) , Whole Genome Sequencing (WGS). Results : MCA Cases from (2015 to 2019). 790 cases with multiple congenital anomalies were referred for the MCA Clinic of the Center of Excellence Cytogenetics results: Conventional and FISH results: showed chromosomal aberrations (29.6%) MLPA: were +ve (14.3%). rCGH : were postive (38.5%) Molecular results: Sanger sequencing: were +ve (25%) NGS: +ve (52.2%) WES: 10 cases WGS: one case