pre implantation genetics

Question 1

pre conception

Answer 1

checking blood for genetic mutations
examples:
Cystic Fibrosis, dependent on ethnicity, recessive, may carry the gene and not know it
Fragile X: Inherited from the mom, predominantly in males,

Question 2

pre implantation genetics

Answer 2

Before IVF,

-take 2 cells out of of the 8 cell embryo, to check for what cells have the mutated gene

Question 3

post implantation

Answer 3

Looking for down syndrome:

• test for hCG, inhibin A, one other compound
• Administer sugar to see if you have gestational diabetes

Question 4

post implantation tests for trisomy

Answer 4

Tests for trisomy:
Example: Trisomy 18 (3 copies of 18 chromosomes)
-Placenta is a huge organ, cells constantly slothing and being renewed, some of the DNA in the cells slothed released into the mom’s blood, when you give birth, within two hours that fetal DNA is gone. Tests for DNA in the mom’s blood, tests for extra copies of 13, 18, 21 and sex chromosomes,
-Ultrasound, can detect 90% of cases of down syndrome
Can also can test for the space behind the fetus’s neck, larger space (enlarged photo) indicator of down syndrome

Question 5

pregnancy times

Answer 5

• 40 weeks in gynecologist pregnancy (3 weeks gyno pregnant is really just 1 week of having an embryo)
• 38 weeks actual pregnancy

Question 6

Chorionic Villi Sampling(10-12 weeks)

Answer 6

Suck out tissue from the placenta entering cannula through the cervix

Question 7

Amniocentesis (14-16 weeks)

Answer 7

Taking fluid from the amniotic sac, not coming in with a cannula instead coming in through the stomach with a needle

Question 8

Pap Smear (24-30 weeks)

Answer 8

take swab from cervix, test for fibronectin (ECM protein) responsible for keeping amniotic sac attached to the placenta/uterus

Question 9

Embryo viability

Answer 9

Embryo viable at 24, but won’t be in good shape if born at 28 or before