The document details the process of accessioning and analyzing amniotic fluid samples in a laboratory setting, including steps like centrifugation, cell growth, and karyotyping. It highlights the identification of Down syndrome (+21) through chromosome analysis and the communication of this diagnosis to the attending physician. The document also outlines physical and developmental traits associated with Down syndrome to help prepare families for the diagnosis.

1. Accessioning We, the totally awesome super- accessioning personnel, receive a shipment of samples early in the morning

2. We receive an amnio sample in the accessioning department We remove the sample tubes from the box and assign it to the amnio cyto lab.

3. Personnel from the amnio lab comes to accessioning to pick up the samples. We send it to the lab for preparation

4. Lab Preparation

5. Received our sample We receive our amniotic fluid in a tube We check the name to see if accessioning did not make a mistake

6. Then they go in the centrifuge It spins very fast and separates the important material from the extra fluid The material goes to the bottom of the tube

7. Then they go in the incubator We put them in there so the cells can grow It is set at a certain temperature and humidity

8. Then we feed them media We grow the cells up Media gives them nutrients

9. We freeze them in a metaphase We put the specimens on cover slips We mount them on a slide They are now ready to be scanned

10. Scanning

11. Microscopy Microscopy is looking for well spread metaphases With in the metaphases we count the number of chromosomes. We determine sex and look for structural abnormalities.

12. IN OUR CASE STUDY We receive g-banded slides from the wet lab. We scan the slides counting 15 metaphases and 15 different colonies. Using microscope stage coordinates we write down the location on a count sheet. Our case showed +21.

13. KARYOTYPING The seven best metaphases are analyzed and pictures are taken. Two to three metaphases are cut and lined up in ordered rows (this is also called a karyotype). The karyotype is arranged according to size and centromere position and emailed to a director.

14. 47,XX,+21

15. A director receives and looks at the karyotypes. Are they Male or female? They’re looking for normal or abnormal chromosomes! Directors: Signing out

16. Abnormal chromosomes Extra 21 means Down syndrome So genzyme decides that it is Down syndrome Then director calls and tells doctor it is Down syndrome The director will answer any question that the doctor has

17. What does this mean? The family needs to be prepared for the baby to have Down syndrome: Physical traits Close ears to head, flat nose, small mouth, tongue sticking out, single crease on hand, the eye has a fold over it Developmental traits possible slow learning, special education needed

18. Thank You!