Congenital abnormalities

Central Nervous System

Neural tube defects: Includes spina bifida (failure of closure of the spinal column) and anencephaly (absence of a major portion of the brain and skull); often detected on prenatal ultrasound or elevated maternal alpha-fetoprotein
Hydrocephalus: Accumulation of cerebrospinal fluid in the brain ventricles, often presenting with macrocephaly, bulging fontanelles, and signs of increased intracranial pressure
Arnold-Chiari malformation: Downward displacement of cerebellar structures through the foramen magnum, associated with hydrocephalus and spinal cord abnormalities
Microcephaly: Abnormally small head size, often associated with developmental delays and intellectual disability, can be genetic or due to intrauterine infections
Dandy-Walker malformation: Congenital brain malformation involving the cerebellum and the fluid spaces around it, often associated with hydrocephalus

Cardiovascular System

Congenital heart defects (CHD): Includes ventricular septal defect (VSD), atrial septal defect (ASD), tetralogy of Fallot (cyanosis, pulmonary stenosis, VSD, right ventricular hypertrophy), and transposition of the great arteries (TGA)
Patent ductus arteriosus (PDA): Failure of the ductus arteriosus to close after birth, resulting in a continuous murmur, and may lead to heart failure if untreated
Coarctation of the aorta: Narrowing of the aorta, often leading to hypertension in the upper limbs and weak pulses in the lower limbs, associated with Turner syndrome
Hypoplastic left heart syndrome: Underdevelopment of the left side of the heart, often fatal without intervention, presenting with cyanosis and heart failure shortly after birth

Gastrointestinal System

Cleft lip and palate: Congenital split in the upper lip and/or roof of the mouth, leading to feeding difficulties, speech problems, and increased risk of ear infections
Esophageal atresia and tracheoesophageal fistula: Esophagus ends in a blind pouch or connects abnormally to the trachea, presenting with difficulty feeding, choking, and aspiration
Duodenal atresia: Congenital obstruction of the duodenum, presenting with bilious vomiting shortly after birth, often associated with Down syndrome
Omphalocele and gastroschisis: Abdominal wall defects where organs protrude; omphalocele is covered by a sac, while gastroschisis is not
Hirschsprung disease: Absence of ganglion cells in the bowel wall leading to functional obstruction, presenting with delayed meconium passage and chronic constipation

Genitourinary System

Hypospadias: Urethral opening is located on the underside of the penis rather than at the tip, potentially causing urinary and reproductive issues
Cryptorchidism: Undescended testes, which increases the risk of infertility and testicular cancer if not corrected
Polycystic kidney disease (PKD): Genetic disorder characterized by the growth of numerous cysts in the kidneys, leading to kidney enlargement and failure
Posterior urethral valves: Congenital obstruction of the male urethra, leading to bladder dysfunction, hydronephrosis, and renal impairment
Congenital adrenal hyperplasia (CAH): Group of genetic disorders affecting adrenal gland function, often leading to ambiguous genitalia in females and salt-wasting crises

Musculoskeletal System

Developmental dysplasia of the hip (DDH): Abnormal development of the hip joint, leading to instability or dislocation, often identified through neonatal screening
Clubfoot (talipes equinovarus): Congenital deformity in which the foot is twisted out of shape or position, requiring early intervention with casting or surgery
Achondroplasia: A common cause of dwarfism, characterized by short stature, disproportionate limb length, and facial abnormalities
Osteogenesis imperfecta: Genetic disorder characterized by brittle bones that fracture easily, often associated with blue sclerae and hearing loss
Congenital scoliosis: Lateral curvature of the spine due to malformations of the vertebrae, potentially causing respiratory and cardiac complications

Prenatal History

Maternal infections: Infections such as rubella, cytomegalovirus, or toxoplasmosis during pregnancy increase the risk of congenital abnormalities
Medication use: Teratogenic drugs (e.g., anticonvulsants, retinoids) can lead to congenital defects
Prenatal screening results: Abnormalities detected on ultrasound or genetic screening (e.g., Down syndrome, neural tube defects)
Maternal conditions: Conditions such as diabetes, obesity, and hypertension can increase the risk of congenital abnormalities
Exposure to toxins: Alcohol (fetal alcohol syndrome), smoking, and environmental toxins can lead to congenital defects

Family History

Genetic conditions: Family history of genetic disorders such as cystic fibrosis, PKD, or hereditary heart defects may suggest a genetic predisposition
Consanguinity: Increases the risk of autosomal recessive disorders, including congenital abnormalities
Previous child with congenital abnormalities: Raises suspicion of genetic or environmental factors that could affect subsequent pregnancies
Ethnic background: Some congenital abnormalities, like sickle cell disease or thalassemia, are more common in specific ethnic groups

Prenatal Investigations

Ultrasound: Routine scans at 12 and 20 weeks to detect structural abnormalities (e.g., neural tube defects, congenital heart disease)
Amniocentesis: Sampling of amniotic fluid for genetic analysis, often performed if there is a high risk of chromosomal abnormalities
Chorionic villus sampling (CVS): Early genetic testing for chromosomal abnormalities, usually performed between 11-14 weeks gestation
Non-invasive prenatal testing (NIPT): Maternal blood test that screens for common chromosomal abnormalities (e.g., Down syndrome) based on fetal DNA
Maternal serum screening: Includes the combined test (nuchal translucency, hCG, PAPP-A) and quadruple test to assess risk of Down syndrome and other conditions

Postnatal Investigations

Physical examination: Neonatal examination to detect obvious congenital abnormalities such as cleft palate, limb deformities, or genital anomalies
Echocardiography: To confirm and assess the severity of congenital heart defects detected prenatally or suspected postnatally
Genetic testing: Karyotyping or specific gene tests if a chromosomal or genetic condition is suspected
Renal ultrasound: To evaluate suspected renal anomalies, such as hydronephrosis or polycystic kidney disease
Brain imaging (e.g., MRI, CT): To assess for central nervous system abnormalities such as hydrocephalus or brain malformations
Hearing screening: Universal newborn hearing screening to detect congenital hearing loss
Newborn blood spot screening: Screening for metabolic and genetic conditions such as phenylketonuria (PKU), congenital hypothyroidism, and sickle cell disease

Child health