وصف
Congenital abnormalities and developmental disorders refer to a wide range of conditions that affect the growth and development of an individual from birth. These abnormalities can result from genetic factors, environmental influences, or a combination of both. Congenital abnormalities are present at birth and can affect various body systems, including the nervous system, cardiovascular system, musculoskeletal system, and others. Developmental disorders, on the other hand, may become apparent as a child grows and fails to reach developmental milestones. One common example of a congenital abnormality is Down syndrome, which is caused by an extra copy of chromosome 21. Other congenital abnormalities include cleft lip and palate, congenital heart defects, spina bifida, and clubfoot. Developmental disorders encompass conditions such as autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and intellectual disability. The exact causes of many of these conditions are not fully understood, although research suggests a combination of genetic and environmental factors. Prenatal exposure to certain substances, maternal infections, and maternal health conditions can increase the risk of congenital abnormalities. Early detection and intervention play a crucial role in managing and improving outcomes for individuals with these conditions.Congenital abnormalities and developmental disorders can have a significant impact on a person's physical, cognitive, and social development.
ملخص
- Congenital defects, present at birth or developing within the first month, encompass structural, functional, and metabolic anomalies. Etiology can be genetic (single gene, multiple gene, chromosomal) or non-genetic (teratogenic, idiopathic), with multifactorial inheritance being most common. While 3% of live-born infants show major anomalies, this increases to 6% by age two and 8% by age five, indicating delayed diagnosis.
- The impact of teratogenic agents varies by developmental stage. In the first two weeks, it causes embryonic death or has no effect. From 3 to 8 weeks (organogenesis), major congenital anomalies may arise. During the fetal period (9th week to 9th month), functional and morphological abnormalities, especially in the brain and eyes, can occur.
- Genetic factors include chromosomal anomalies due to non-disjunction (increased with maternal age), gene mutations, and multifactorial causes. Chromosomal abnormalities are classified as numerical (polyploidy, aneuploidy) or structural (deletion, duplication, translocation, etc.). Toxic substances during pregnancy, known as teratogens, pose risks, necessitating awareness of drug categories. Vertically transmitted infections and maternal nutritional deficiencies also contribute.
- Physical risks such as shocks or constraint can lead to deformation. Single-gene defects can be recessive (both autosomal genes affected) or dominant (one gene copy affected). Large chromosomal abnormalities affect multiple body parts. Hormonal imbalances (hypothyroidism, diabetes) increase risks, and a significant percentage of birth defects (65%) have unknown causes.
- Congenital defects are classified as: Malformation (abnormal organ formation), disruption (morphological change), deformation (mechanical forces altering existing structures), dysplasia (abnormal cellular organization), agenesis (organ absence), and sequencing problems (one factor causing multiple secondary effects). Syndromes are groups of anomalies with a common cause. Developmental defects involve interruption of development, such as phocomelia or adactyly.
- Spinal development defects include agenesis, block vertebrae, butterfly vertebrae, extra vertebrae, scoliosis, spina bifida, and spondylolisthesis. Developmental problems such as sternocleidomastoid contracture and radial club hand can be managed surgically. Polydactyly and macrodactyly necessitate surgical intervention. Clapped hand/foot and vertical talus also require treatment.
- Prenatal diagnosis includes non-invasive (maternal serum screening, NIPT, ultrasounds) and invasive (chorionic villus sampling, amniocentesis, fetal blood sampling) techniques. Prevention strategies include genetic counseling and prenatal screening. Fetal therapy options encompass transfusions, medical treatments, and surgical interventions. Stem cell transplantation and gene therapy are also being explored.
- Government initiatives include designating January as National Birth Defect Prevention Month and March 3rd as Birth Defect Day. Clinical heart defect awareness week is observed from February 7-14, highlighting increased awareness.
نموذج شهادة
حول المتحدثين
الدكتورة ريشيكا سهاي
Director at India IVF Clinic Head Fertility specialist and Gynec-Laparoscopic surgeon at Fortis Hospital
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