Clinical Research Directory

Result Of Karyotyping in Pediatric Patients With Congenital Anomalies and Developmental Delay

The goal of this observational cross-sectional study is to study the results of karyotyping analysis for children presented with congenital anomalies and developmental delay aged 1 month to 12 years, the need for further genetic tastings and identification of parents who are carrier of balanced chromosomal translocations. The main question it aims to answer: What the is the incidence of congenital anomalies tested by karyotyping and the type of chromosomal abnormalities causing the clinical features. Researcher will take detailed clinical history, physical examination and developmental assessment for children and interpret karyotyping results. For participants data will be collected regarding: 1. History will be taken including demographic data of child age, parental age, consanguinity and relevant family history and developmental history. 2. Clinical examination for any fascial dysmorphism, congenital heart disease, skeletal deformities, renal anomalies or any associated features. 3. Clinical assessment of developmental milestones. 4. Investigations done including laboratory tests, ultrasound scan, x-rays, CT scan, echocardiography or any other investigation. 5. Karyotyping results detected if aneuploidy or structural abnormality including chromosomal deletions, duplications, translocations or inversions. 6. Other genetics tests done including Comparative microarray, FISH (Fluorescence in Situ Hybridization), and WES (Whole Exome Sequencing). 7. If parental karyotyping for suspected translocations was done.

AI-Powered Neonatal Risk Assessment for Improved Perinatal Outcomes

This study aims to develop advanced artificial intelligence (AI) models that predict neonatal risks and complications based on historical multimodal health data, including ultrasound and MRI scans. The objective is to empower clinicians and provide clear, compassionate support for families navigating complex prenatal diagnoses.

Evaluating Prenatal Exome Sequencing Study

This study evaluates the impact of the various outcomes of pES (definitive diagnosis, probable diagnosis and IF) on clinical decision making and on parental psychological wellbeing, compared between different analysis strategies to investigate the clinical utility, defined as the balance between potential harms and benefits.

Quality of Information Provided During Antenatal Consultations

The objective of this questionnaire study is to evaluate the concordance between the information provided to parents during antenatal consultations and their subsequent experiences following childbirth.