Scene 5: Prenatal Testing You’ll have a choice between chorionic villi sampling (CVS) and amniocentesis. I’d like to know about prenatal diagnosis for Down Syndrome.

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

Scene 5: Prenatal Testing Can ultrasound detect a cleft lip? Kristie’s cleft lip was frightening and I am anxious about it occurring in another child. Ultrasound is used along with amniocentesis to help to guide the placement of the needle. 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 Uses sound to visualize the fetus Like sonar: sounds waves echo to produce an image May help ID age, multiple fetus’, complications No risk

Prenatal Testing I 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. 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. Ultrasound cannot guarantee the detection of cleft lip. Can it determine the gender of the baby?

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

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

Scenario continued Martha 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. 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. The chromosome testing has revealed a 46, XY karyotype.

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