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• W2592586627 abstract "Prenatal diagnosis by chromosome and FISH analysis to detect fetal abnormalities may be the most critical test performed in a laboratory, because a family's decision to continue a pregnancy is often determined by the test result. Thus, laboratory personnel involved in sampling, transport, culturing, harvesting, and analyzing prenatal specimens must appreciate the consequences of technical error. Chapter 5 in the AGT Cytogenetics Laboratory Manual, 4th ed., provides a solid background for technologists and cytogeneticists involved in prenatal processing for chromosome analysis. Procurement of amniotic fluid and chorionic villus is discussed, as well as its transportation and open vs closed culture considerations. The authors demonstrate the embryologic derivation of the placenta, emphasizing the targeted cytotrophoblasts from which mitotic cells can be directly harvested. The implications of confined placental mosaicism (CPM), maternal cell contamination (MCC), and uniparental disomy (UPD) as a result of trisomy rescue, are also clearly explained so that the reader with limited exposure to this field can still appreciate the importance of these rare, but real, complicated situations. Percutaneous umbilical blood sampling (PUBS) is also addressed. Contributed protocols include the setup, maintenance, and harvest steps for both in situ and flask cultures of amniotic fluid cells and chorionic villus sampling (CVS), along with cystic hygroma fluid processing and the criteria for interpreting mosaic amniotic fluid cultures." @default.
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• W2592586627 date "2017-03-04" @default.
• W2592586627 modified "2023-09-23" @default.
• W2592586627 title "Prenatal chromosome diagnosis" @default.
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• W2592586627 doi "https://doi.org/10.1002/9781119061199.ch5" @default.
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