12/06/2025
Fetal anomalies, also called congenital anomalies or birth defects, are structural or functional abnormalities that occur during intrauterine life and can be identified during pregnancy, at birth, or later in life.
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đ Categories of Fetal Anomalies
1. Structural anomalies
Physical malformations in organs or body parts.
Example: Spina bifida, cleft lip/palate, congenital heart defects.
2. Functional anomalies
Affect how a part of the body works.
Example: Metabolic disorders, neurodevelopmental disorders.
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đ§Ŧ Causes of Fetal Anomalies
1. Genetic factors
Chromosomal abnormalities (e.g., Trisomy 21 - Down syndrome)
Single-gene mutations (e.g., cystic fibrosis)
2. Environmental factors
Infections (e.g., rubella, cytomegalovirus)
Maternal conditions (e.g., diabetes, uncontrolled hypothyroidism)
Teratogens (e.g., alcohol, certain medications, radiation)
3. Multifactorial
Combination of genetic and environmental influences.
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đŠģ Diagnosis of Fetal Anomalies
1. Ultrasound (Sonography)
Routine anomaly scan at 18â22 weeks
Early scans (11â14 weeks) can detect major defects like anencephaly
2. Maternal serum screening
First-trimester and second-trimester screening for risk factors
3. Non-Invasive Prenatal Testing (NIPT)
Cell-free DNA testing from maternal blood
4. Invasive tests (for confirmation)
Chorionic villus sampling (CVS)
Amniocentesis
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â Examples of Common Fetal Anomalies
System Common Anomalies
Central Nervous System Anencephaly, hydrocephalus, spina bifida
Cardiovascular Ventricular septal defect, hypoplastic left heart
Gastrointestinal Omphalocele, gastroschisis, duodenal atresia
Genitourinary Renal agenesis, polycystic kidneys
Musculoskeletal Clubfoot, limb reduction defects
Chromosomal Down syndrome, Edwards syndrome (Trisomy 18), Patau syndrome (Trisomy 13)
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đŠē Management Options
Detailed counseling with a maternal-fetal medicine specialist
Referral to genetic counseling
Delivery planning in a center with neonatal support
Fetal therapy (rare; e.g., fetal surgery for spina bifida)
Termination of pregnancy, depending on local laws and anomaly severity
Gomati Hospital
Cumilla
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