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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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🔍 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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🧬 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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🩻 Diagnosis of Fetal Anomalies

1. Ultrasound (Sonography)

Routine anomaly scan at 18–22 weeks

Early scans (11–14 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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❗ 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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🩺 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
গোমতী হাসপাতাল
আলট্রাসাউন্ড & ভাস্কুলার ল্যাব
+8801958422818

03/06/2025

It is an extraordinary ultrasound Center in Comilla where normal, high resolution, dupplex, interventions, guided interventions are done very carefully.