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Biochemistry

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Enzymes

Question
11 out of 79
 

Prenatal genetic diagnostic tests are performed in conditions: (PGI)



A X-linked disorders

B Advanced maternal age

C Infertility

D Multiple spontaneous abortions

E Ethnic groups at high risks

Ans. A + B + D + E

Prenatal diagnosis of numerous genetic diseases — possible by Direct DNA analysis

a. Amniocentesis — at 16 weeks of gestation

b. CVS - at 9 to 12 weeks of gestation

c. Percutaneous umbilical blood sampling (for lymphocyte culture and analysis) at 18 weeks of gestation

I. Main indications of aminocentesis are:

a. Advanced maternal age above 35 yrs.

b. Abnormal serum triple marker test (α-fetoprotein, β-hCG, pregnancy —associated plasma protein

II. Unconjugated estriol

c. A family H/O chromosomal abnormalities or

d. A Mendelian disorder

III. Indications for genetic counseling

e. Advanced maternal age (> 35) or paternal (>50) age

f. Consanguinity

g. Previous H/O a child with birth defect or a genetic disorder

h. Personal or F/H suggestive of a genetic disorder

i. High risk Ethnic groups

j. Documented genetic alteration in a family member

k. USG or prenatal testing suggestive a genetic disorder

(B) Down syndrome (Trisomy 21)

Various screening tests for Down syndrome

1. Triple test (2nd trimester, 15-18 wks) includes:

1. Serum - α-fetoprotein ()

- unconjugated Estriol () and

- hcG ()

2. Quadruple test ( trimester) — includes:

a. Serum α-Fetoprotein ()

b. Unconjugated estriol ()

c. hcG()and

d. Inhibin A

3. Combined test ( trimester) includes:

- Pregnancy associated plasma protein A ()

- Free 3-subunit of HCG ()

- Nuchal translucency (> 3mm nuchal thickness)

4. Integrated test ( 1st and 2nd trimesters) includes:

- Pregnancy associated plasma protein A (in 1st Trimester)

- Nuchal translucency (> 3mmNuchal thickness) in 1st trimester

- Serum α - FP () – 2nd trimester

- Unconjugated estriol ( 2 trimester

- HCG () and inhibin A — 2nd trimester

B. Others findings in Down’s syndrome

- Absence of fetal nasal bone

- Reduced length of femur and Humerus

C. Diagnosis is confirmed by chromosomal analysis of cells obtained by Amniocentesis and chorionic villus biopsy.

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