Purpose of prenatal genetic diagnosis
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to predict fetal health
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to prepare for genetic health examination
Prenatal genetic diagnosis checkup
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Ultrasound exam: The exam is useful in detecting unusual development and structure of the fetus. It is non-invasive and suitable throughout the entire pregnancy.
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Thalassemia screen: A pregnant woman has to undergo mean red blood cell volume (MCV) by blood test during her first prenatal visit. If the MCV is smaller than 80, our medical staff will help the partner administrate a blood test in order to verify thalassemia type (alpha or beta) or iron deficiency anemia.
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Fetal nuchal translucency
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Purpose: to screen chromosome anomaly, especially Down syndrome.
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Time: 11~14 weeks of the pregnancy
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Method: measure the area around fetus’ neck with ultrasound. High risk mothers are recommended to sample amnionic fluid or chorionic villus for confirmation. Ultrasound diagnosis of fetus cardiac echo is likely to detect possible congenital heart disease as early as 20 to 24 weeks.
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Cost: NT$1000 (at one’s own expense)
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Down syndrome screen
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Purpose: to screen Down syndrome（Mongolian Syndrome）。
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There are two methods:
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First trimester Down syndrome screen
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Time: 11-13+6 weeks pregnancy
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Method: sample maternal blood and nuchal translucency ultrasound
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Cost: NT$ 2700 (at one’s own expense)
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Detect rate: 85-89%
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Secone trimester Down syndrome screen (Quadruple Screen)
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Time: 14-16 weeks pregnancy
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Method: sample maternal blood
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Cost: NT$ 2480 (at one’s own expense)
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Detect rate: 80-83%
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Amniocentesis
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Purpose: to check fetal chromosome and metabolic disorders.
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Time：16~20 weeks pregnancy
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Subject：
a. Advanced age pregnancy ≧ 34 year old.
b. More than 3 times or habitual abortions.
c. Previous Down syndrome delivery
d. High risk maternal Down screen group.
e. Family with Down syndrome or hereditary diseases.
f. Parents have chromosome abnormality.
g. Increase fetal nuchal translucency.
h. Structural abnormality in ultrasound diagnosis.
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Method: a trained doctor of gynecology and obstetrics specialist can perform an amniocentesis under ultrasound guidance.
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Cost: generally NT$8000～9000 for high risk, government will subsidize NT$2000 for each person.
Conclusion
Prenatal diagnosis has become safer during the pregnancy because of rapidly developed medical technology especially with antenatal heredity diagnosis. Early prenatal screening and treatment help reduce potential risks of the mother and baby during the pregnancy. It also ensures the mother a safe delivery at the time of welcoming a new life.
中國醫藥大學附設醫院
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