Developmental Anomalies and Congenital Disorders

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25%

Endosulfan

Complex origin

Numerical aberration

10/1000

Minor abnormalities

Cri-du-chat Syndrome

60%

Congenital anomalies

Sickle Cell Anemia

They are present at birth, whether detected or not

Lethal

Medical treatment required

They can lead to a handicap or death if not surgically corrected

Majority

Stillbirth or early infant death

Critical CHDs

Cyanosis

An underdeveloped left ventricle

Septal defect

Surgical repair

An inter-ventricular septal defect, an aorta that emerges from both ventricles, a stenosed pulmonary valve, and an enlarged right ventricular wall

An underdeveloped left side of the heart, especially the left ventricle and aorta.

Cyanosis, or a bluish discoloration seen in nail beds and mucous membranes.

The location of the opening in the septum, with ventricular septal defects occurring in the interventricular septum and atrial septal defects occurring in the septum between the atria.

The potential for undiagnosed and untreated critical CHD to lead to death in the newborn period.

The failure of the foramen ovale to close after birth leads to an opening in the septum between the atria.

Closed spina bifida involves a defect in the posterior vertebral arches, while encephalocele involves a defect in the calvaria.

Genetic causes involve chromosomal aberrations or single-gene defects, whereas environmental causes include infectious diseases, maternal diseases, teratogenic drugs, and pollutants.

Minor congenital abnormalities pose little or no significant health problem and tend to have limited social or cosmetic consequences, whereas major abnormalities are typically lethal or severe and have significant health and social implications.

Neural tube defects are among the most common congenital abnormalities, affecting the brain and spinal cord, and have a high incidence of 10/1000 live births.

The interaction between genetic and environmental factors triggers the predisposition to congenital abnormalities, resulting in a complex (multifactorial) origin.

The endosulfan tragedy highlights the devastating consequences of environmental pollutants on human health, particularly in terms of congenital abnormalities.

Chromosomal aberrations, including numerical and structural aberrations, can lead to congenital abnormalities, and the two main types are chromosomal aberrations and single-gene defects.

Congenital anomalies involving the heart have a significant impact on mortality and morbidity, and their estimated incidence is 8/1000 live births.

Single-gene defects, such as sickle cell anemia, Duchenne muscular dystrophy, and cystic fibrosis, are inherited in a Mendelian pattern and can lead to congenital abnormalities.

The proportion of congenital abnormalities with a genetic origin is estimated to be around 25%, whereas environmental and complex (multifactorial) origins account for 15% and 60%, respectively.

Congenital anomalies involving the brain and spinal cord can have severe and devastating consequences, including significant health problems, disability, and mortality.

The likelihood of death, with lethal congenital abnormalities ultimately leading to stillbirth or early infant death, and severe congenital abnormalities potentially leading to handicap or death if not surgically corrected.

Major congenital anomalies have significant medical, surgical, social, and/or cosmetic consequences and typically require medical treatment, while mild congenital anomalies require medical attention but have a good life expectancy.

This classification highlights the different types of defects that can occur at birth, including abnormalities in the physical structure, function, or biochemical-molecular processes of the body.

Congenital anomalies involving the heart have a higher incidence, occurring at a rate of 10/1000 live births, compared to those involving the brain.

This distinction highlights the different underlying causes of congenital abnormalities, with genetic origin suggesting a single-gene defect or chromosomal aberration, and complex origin suggesting the interaction of genetic and environmental factors.

The consequences of congenital abnormalities vary depending on their severity, with lethal abnormalities leading to death, severe abnormalities potentially leading to handicap or death, and mild abnormalities having a good life expectancy.

Anencephaly = Lethal Congenital hip dislocation = Mild Cleft lip = Severe Hypoplastic left heart syndrome = Severe

Tetralogy of Fallot = Can lead to a baby becoming very sick and dying in the newborn period Undescended testis = Requires medical attention, but life expectancy is good Encephalocele = Brain and meninges herniate through a defect in the posterior vertebral arches Congenital pyloric stenosis = If not surgically corrected can lead to a handicap or maybe death

Cleft lip = Major anomaly Congenital hip dislocation = Mild anomaly Anencephaly = Lethal anomaly Hypoplastic left heart syndrome = Severe anomaly

Structural anomalies = Cleft lip Functional anomalies = Congenital pyloric stenosis Biochemical-molecular anomalies = Hypoplastic left heart syndrome Morphological anomalies = Anencephaly

Lethal anomalies = Ultimately leads to stillbirth or early infant death Severe anomalies = Can lead to a handicap or maybe death if not surgically corrected Mild anomalies = Requires medical attention, but life expectancy is good Major anomalies = Has significant medical, surgical, social, and/or cosmetic consequences

Hypoplastic left heart syndrome = Left ventricle is underdeveloped Tetralogy of Fallot = Right ventricle is underdeveloped Anencephaly = Brain and meninges herniate through a defect in the posterior vertebral arches Encephalocele = Left ventricle is underdeveloped

Tetralogy of Fallot = Cyanosis, the bluish discoloration most easily seen in nail beds and mucous membranes Hypoplastic Left Heart Syndrome = Cardiogenic shock and heart failure in the newborn Septal Defect = Oxygenated blood flows directly from the left ventricle into the right ventricle Atrial Septal Defect = Fetal foramen ovale between the two atria fails to close after birth

Closed Spina Bifida = The bony defect of the posterior vertebral arches, the herniated meninges, and neural tissue are covered by skin Encephalocele = The brain and meninges herniate through a defect in the calvaria Anencephaly = A severe congenital defect that affects the brain and can be lethal Spina Bifida = The bony defect of the posterior vertebral arches, the herniated meninges, and neural tissue are exposed

Tetralogy of Fallot = An inter-ventricular septal defect, an aorta that emerges from both ventricles, a stenosed pulmonary valve, and an enlarged right ventricular wall Hypoplastic Left Heart Syndrome = An underdeveloped left ventricle, a small mitral valve, and an underdeveloped ascending aorta Septal Defect = An opening in the septum that separates the interior of the heart into left and right sides Atrial Septal Defect = A defect in the septum that separates the two atria

Tetralogy of Fallot = Surgical repair is usually successful Hypoplastic Left Heart Syndrome = Surgical repair is necessary to sustain the systemic circulation Septal Defect = Surgical treatment is necessary to close the opening in the septum Atrial Septal Defect = Surgical closure of the fetal foramen ovale is necessary

Tetralogy of Fallot = The baby may become cyanotic and may die if undiagnosed and untreated Hypoplastic Left Heart Syndrome = The baby may experience cardiogenic shock and heart failure Septal Defect = The baby may not experience any symptoms, but may have a heart murmur Atrial Septal Defect = The baby may experience heart failure and cardiogenic shock if left untreated

Tetralogy of Fallot = Critical Congenital Heart Defect Hypoplastic Left Heart Syndrome = Critical Congenital Heart Defect Septal Defect = Milder case of Congenital Heart Defect Atrial Septal Defect = Milder case of Congenital Heart Defect

Major = Account for most of the mortality, morbidity, and disability related to congenital anomalies Minor = Pose little or no significant health problem and tend to have limited social or cosmetic consequences Lethal = Always result in death Severe = Require immediate medical attention

Chromosomal aberrations = Down syndrome Single-gene defects = Sickle Cell Anemia Genetic syndromes = Cri-du-chat Syndrome Inherited traits = Color Blindness

Infectious diseases = Rubella Maternal diseases = Diabetes mellitus Teratogenic drugs = Thalidomide Environmental pollutants = Endosulfan

Neural tube defects = 10 Heart defects = 8 Kidney defects = 4 Limb defects = 1

Numerical = Total chromosome number is either increased or decreased Structural = The structure of the chromosome is affected Genetic = Changes in the DNA sequence Mendelian = Follows a predictable inheritance pattern

Anencephaly = Total or partial absence of the brain and cranial vault Encephalocele = Herniation of brain and meninges through a defect in the skull Spina bifida = Bony defect of the posterior vertebral arches Meningomyelocele = Herniation of spinal cord and meninges through a defect in the spine

Genetic origin = 25% Environmental origin = 15% Complex (multifactorial) origin = 60% Unknown origin = 10%

Lethal = Death Severe = Permanent disability Mild = Limited social or cosmetic consequences Major = Significant health problem and disability

Sickle Cell Anemia = Autosomal recessive Duchenne Muscular Dystrophy = X-linked recessive Cystic Fibrosis = Autosomal recessive Hemophilia = X-linked recessive

Major = Defective embryogenesis or intrinsic abnormalities Minor = Gene-environmental interaction Lethal = Chromosomal aberrations Severe = Single-gene defects