Congenital Disease Diagnosis and Evaluation

At Liv Hospital, congenital diseases are diagnosed early with advanced prenatal screening, imaging, and genetic testing for accurate evaluation and care.

How Are Congenital Diseases Diagnosed at Liv Hospital?

Diagnosing congenital diseases spans from early pregnancy to birth. Structural, functional, or genetic conditions are assessed using imaging, biochemical screening, and genetic testing.

Early and accurate diagnosis enables fetal therapy or immediate postnatal interventions. At Liv Hospital, a prenatal to-postnatal approach ensures families receive timely information and support.

Prenatal Screening (First and Second Trimesters)

Most diagnostic journeys begin before birth. These tests identify the risk of a condition:

• Nuchal Translucency (NT) Scan: An ultrasound performed between 11 and 14 weeks to measure the fluid at the back of the baby's neck, which can indicate chromosomal risks.
• Non-Invasive Prenatal Testing (NIPT): A simple blood test from the mother that analyzes fetal DNA circulating in her blood to screen for Down syndrome and other trisomies.

High Resolution Anomaly Scan

Usually performed between weeks 18 and 22, this is a detailed "head-to-toe" ultrasound.

• What it Detects: Structural anomalies such as cleft lip, spina bifida, limb deformities, and major organ malformations.
• Fetal Echocardiogram: If a heart issue is suspected, a specialized ultrasound focuses exclusively on the structure and function of the fetal heart.

Invasive Diagnostic Testing

If screening tests show a high risk, invasive procedures provide a definitive "yes" or "no" answer:

• Amniocentesis: Collecting a small sample of amniotic fluid to analyze the baby’s chromosomes.
• Chorionic Villus Sampling (CVS): Taking a tiny piece of the placenta for genetic testing, usually performed earlier than amniocentesis.

Newborn Physical Examination

Immediately after birth, every baby undergoes a "top-to-toe" assessment.

• Apgar Score: Evaluates heart rate, breathing, and muscle tone.
• Visible Checks: Assessing the palate (inside the mouth), the spine, the hips (for dysplasia), and the genitals.

Universal Newborn Screening (The "Heel Prick" Test)

A few drops of blood are taken from the baby’s heel 24 to 48 hours after birth.

• Target: Identifying metabolic and genetic disorders that are not visible, such as Phenylketonuria (PKU), Congenital Hypothyroidism, and Cystic Fibrosis.
• Significance: Many of these conditions can cause permanent brain damage if not treated within days of birth.

Critical Congenital Heart Disease (CCHD) Screening

This involves pulse oximetry, a non-invasive test where sensors are placed on the baby's hand and foot to measure oxygen levels. A significant difference between the two or a low overall reading can indicate a hidden heart defect.

Newborn Hearing Screening

Most babies have their hearing checked before leaving the hospital. An Otoacoustic Emissions (OAE) or Automated Auditory Brainstem Response (AABR) test measures how the ear and brain respond to sound, detecting congenital deafness early.

Genetic Sequencing and Microarray

For complex cases or rare syndromes, advanced genetic testing is used:

• Chromosomal Microarray (CMA): Looks for tiny extra or missing pieces of genetic material.
• Whole Exome Sequencing (WES): Analyzes the protein-coding regions of the DNA to find rare genetic mutations.

Postnatal Imaging (MRI, CT, and X-ray)

If a structural defect is confirmed after birth, imaging provides the surgical "map":

• Brain MRI: Used for neurological anomalies or microcephaly.
• Chest X-ray: To evaluate lung development or diaphragm issues (e.g., Congenital Diaphragmatic Hernia).

Evaluating the "Whole Family" (Genetic Counseling)

When a congenital disease is diagnosed, evaluation often extends to the parents. G
Genetic counselors help families understand if the condition might recur in future pregnancies and explain the inheritance patterns linked.

Why Choose Liv Hospital for Congenital Disease Diagnosis?

At Liv Hospital, our approach is "Precision and Peace of Mind." Using 4D ultrasound and rapid genetic sequencing, we provide accurate prenatal diagnosis.
Families receive clear guidance in a supportive environment, and our Neonatology team ensures life-saving plans are ready at birth.