Prenatal Testing and Diagnosis
Diagnosis is identify nature of illness or disease by making examination of symptoms.
Prenatal diagnostic testing involves testing fetus before birth to determine whether the foetus has certain abnormalities, including certain hereditary or spontaneous genetic disorder.
Screening for Congenital Abnormalities
Prenatal diagnosis
Pregnancy period; 37-40 weeks
1. Aminocentesis at 14-16 weeks
2. Chorionic villus sampling
3. Maternal serum alpha Feto protein
4. hCG; human chorionic gonadotropin
5. Amniography; X ray examination of amniotic sac.
6. Fetoscopy; Usually around 18 week of pregnancy
7. Antenatal screening
8. FISH test (fluorescence in situ hybridization)
9. Fetal blood sampling
Congenital Abnormalities
Heart defects
Cleft lip or palate
Neural Tube Defect
Down syndrome
1. First trimester screening (11-13 week of pregnancy)
1. Maternal blood screen
2. hCG level/ and pregnancy associated plasma protein A (PAPP- A)
3. Ultrasound
2. Second trimester screening (15-20 week of pregnancy)
1. Maternal serum screen
Guad screen test level of;
AFA; alpha Feto protein
hCG
Estriol
Inhibin- A
2. Fetal Echocardiogram
To evaluate baby's heart for heart defects before birth. (18-20 week's)
3. Ultrasound
To check the size of baby and looks for birth defect.
3. CVS ( chorionic villus sampling)
4. Aminocentesis
5. AChE; Acetylcholinesterase enzyme that unborn baby produce.
This enzyme can pass from unborn baby to fluid surrounding the baby if their is opening in neural tube.
3. Third trimester screening (28 weeks)
Fetal ultrasound scan with the help of abdominal sensor placement.
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