You’ll have a choice between chorionic villi sampling (CVS) and amniocentesis.

I’d like to know about prenatal diagnosis for Down Syndrome.

Scene 5: Prenatal Testing

Chronic Villi Sampling (CVS)• 1st trimester• Chorionic villi

(fetal cells) scraped off & suctioned

• Cells and chromosomes examined

• Danger: 1% death rate

Amniocentesis

• 11th-18th week of pregnancy

• Amniotic fluid & shed fetal cells obtained

• Chromosomes can be studied

• Danger: 1 in 200 risk of miscarriage

We can test for Down Syndrome, but we can use CVS to test for hemophilia since you are a carrier.

No that’s ok. Hemophilia doesn’t show, you know, like being short or something.

With amniocentesis, how can I be sure that the needle won’t hit the baby?

Ultrasound is used along with amniocentesis to help to guide the placement of the needle.

Can ultrasound detect a cleft lip? Kristie’s cleft lip was frightening and I am anxious about it occurring in another child.

Scene 5: Prenatal Testing

Ultrasound

• Uses sound to visualize the fetus• Like sonar: sounds waves echo to produce an image• May help ID age, multiple fetus’, complications• No risk

Ultrasound cannot guarantee the detection of cleft lip.Can it determine the

gender of the baby?

Sometimes, but chromosome analysis can do a much better job at that. If you’re concerned of having a boy with hemophilia, we can test that directly.

Prenatal TestingI was a fashion model, and my daughters are all model material. Even though Kristie’s cleft lip was fixed, I don’t want to chance it with another child. Models have to be perfect.

No. I don’t care about hemophilia. I want to know if I’m carrying a boy or a girl because my husband told me that if I don’t give him a son, he’ll find another woman who will.

If prenatal testing indicates that I’m carrying a female, I will terminate the pregnancy.

Prenatal TestingI don’t feel this is

appropriate use of this technology, but

she has the legal right to have the test and

to utilize the results as she pleases.

“…while most women would be happy with another girl, my husband will leave, and I’ll probably have to go back to work. I’d hate this girl. I’d probably hate myself. I’d probably kill myself. So you see, I have my reasons, and they’re not as selfish as you might think.

How long will it take to get my test results? I’d like to know as quickly as possible.

It routinely takes 7-10 days for chromosome results. But in some cases, we can do an investigative test – called FISH – that might tell you what you want to know in 3 days. But this is a research test. There are many conditions.

Prenatal Testing

I just wish there was a way to get this information without so much fuss.

Well, researchers are working on a way to test the unborn baby’s chromosomes just by drawing a sample of blood from the mother.

It seems that, during pregnancy, some of the baby’s cells wind up in the mother’s blood stream. There may be a way to take a sample of a woman’s blood, pick out the fetal cells, and test them directly. But we’re not there yet.

Prenatal Testing

Scenario continuedMartha decides to have a routine amniocentesis at 15 weeks.

Norman refuses to attend any of the counseling or testing sessions with his wife but is pleased that his wife is carrying a boy.

The chromosome testing has revealed a 46, XY karyotype.

A boy! Oh thank God. I don’t want to test for hemophilia. But I want to repeat the ultrasound to try and identify a cleft lip or palate.

Bout time she’s having a boy.

Essay #4• If there is a known genetic disorder in one or more

individuals in her or her husband’s family, should a pregnant woman be required to have prenatal testing done to determine whether her unborn child carries the disorder? Give reasons for your answer.

• Essay Format: – Ink or typed (no pencil)– Add title and date – Minimal length = ¾ page – If typed: 1” margins, 12-point times new roman font, double spaced.– Complete essays (Introduction, body, conclusion)– Spellcheck and proofread