Screening for Fatal Congenital Disorders During Pregnancy: What Every Parent Should Know
Screening for fatal congenital disorders during pregnancy is one of the most critical steps in prenatal care. These tests help detect life-threatening birth defects early—giving parents and doctors the chance to make timely, informed decisions and prepare for possible complications.
What Are Congenital Disorders?
Congenital disorders are structural or functional abnormalities that develop in the womb. They can affect the brain, heart, lungs, or limbs and may be caused by genetics, infections, nutritional deficiencies, or environmental exposures.
Why Screening Is Important
- Early detection of fatal conditions like anencephaly or Trisomy 13
- Helps assess risk of chromosomal abnormalities (e.g., Down syndrome)
- Gives parents time to consider further testing or medical options
- Allows doctors to plan specialised care or surgery immediately after birth
When Are These Screenings Done?
Screenings typically occur during the first and second trimesters:
- First Trimester (10–14 weeks): Nuchal translucency ultrasound and blood test (PAPP-A and hCG)
- Second Trimester (15–20 weeks): Quad screen test and detailed anomaly scan (Level 2 ultrasound)
Common Fatal Congenital Conditions Screened
- Anencephaly: Absence of major brain parts
- Trisomy 18 (Edwards syndrome): Severe developmental issues, often fatal within the first year
- Trisomy 13 (Patau syndrome): Heart, brain, and spinal defects
- Congenital diaphragmatic hernia: A hole in the diaphragm affecting lung development
Types of Prenatal Screening Tests
- Ultrasound: Visual detection of physical anomalies
- Blood tests: Measure hormone levels linked to genetic risks
- NIPT (Non-Invasive Prenatal Testing): DNA test from the mother's blood, highly accurate for chromosomal disorders
What Happens If a Disorder Is Detected?
- You may be referred for diagnostic tests like amniocentesis or chorionic villus sampling (CVS)
- Genetic counselling helps understand risks and options
- Doctors may recommend closer monitoring, early delivery, or, in some cases, discuss termination
Emotional Considerations
Getting abnormal results can be terrifying. It’s crucial to have support from loved ones, mental health professionals, and compassionate medical staff. Screening is not about fear—it’s about readiness.
Tips for Expecting Parents
- Don’t skip early screening appointments
- Keep a checklist of your test results and dates
- Ask about genetic counselling if you have a family history of disorders
- Use hospital resources for emotional support and education
Related: What are the common complications during pregnancy?
Related: Tips to improve your chances of a healthy pregnancy
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