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Scene 5: Prenatal Testing I’d like to know about prenatal diagnosis for Down Syndrome. You’ll have a choice between chorionic villi sampling (CVS) and amniocentesis. 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 Nofrightening that’s ok. and I am With amniocentesis, Hemophilia doesn’t anxious about how can I beitsure that show, you know, like occurring in another the needle won’t hit being short or child. the baby? something. Ultrasound We can test is used for along Down with Syndrome, but amniocentesis we can use CVS to to help testtofor guide hemophilia the placement since youof are the a needle. carrier. 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 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 Can it determine the perfect.of the baby? gender Prenatal Testing Sometimes, but chromosome analysis can do a much better job at Ultrasound cannot that. If you’re concerned guarantee the of having a boy with detection of test cleft hemophilia, we can lip. that directly. Prenatal Testing No. I don’t care about hemophilia. I want to know if I’mtesting carrying a If prenatal boy or a girl my indicates thatbecause I’m husband me that carrying atold female, I willif I don’t give the him a son, terminate he’ll find another pregnancy. woman who will. 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. 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 Howmyself. long will take to kill myself. So hate I’d it probably getsee, my test results? I’d you I have my reasons, and they’re likeastoselfish know as as you quickly not might think. 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. are It seemsWell, that,researchers during pregnancy, on acells waywind to some ofworking the baby’s the unborn up in thetest mother’s bloodbaby’s byto stream. chromosomes There may be ajust way drawing of take a sample ofaasample woman’s blood blood, pick outfrom the the fetalmother. cells, and test them directly. But we’re not there yet. 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