{"id":1155,"date":"2018-12-20T15:54:03","date_gmt":"2018-12-20T15:54:03","guid":{"rendered":"https:\/\/wp.uthscsa.edu\/pathology\/?page_id=1155"},"modified":"2018-12-20T15:54:03","modified_gmt":"2018-12-20T15:54:03","slug":"chromosome-analysis-amniotic-fluid","status":"publish","type":"page","link":"https:\/\/lsom.uthscsa.edu\/pathology\/reference-labs\/clinical-molecular-cytogenetics\/chromosome-analysis-amniotic-fluid\/","title":{"rendered":"Chromosome Analysis \u2013 Amniotic Fluid"},"content":{"rendered":"

[vc_row][vc_column width=”2\/3″][vc_column_text]Test Overview<\/p>\n

CPT Code(s)<\/strong><\/p>\n

88235, 88267, 88280, 88291<\/p>\n

Methodology<\/strong><\/p>\n

Culture \/ Microscopy \/ Karyotype<\/p>\n

Specimen Requirements<\/strong><\/p>\n

Container: Two 15 ml sterile leak-proof conical tubes (discard 1st<\/sup>\u00a0milliliter to avoid maternal cell contamination)<\/p>\n

Optimal Quantity: 20-25 ml<\/p>\n

Minimum Quantity: 10 ml<\/p>\n

Storage: Room Temperature<\/p>\n

Stability at Room Temperature: 8 hours, then refrigerate<\/p>\n

Transportation: Avoid freezing or heating over 35O<\/sup>C<\/p>\n

Turnaround Time<\/strong><\/p>\n

Final report in 7-10 days for 90% cases<\/p>\n

Test Detail<\/p>\n

Clinical Significance<\/strong><\/p>\n

A chromosome analysis on amniotic fluid may be clinically significant to identify genetic conditions associated with indications such as, advanced maternal age (AMA),\u00a0sonographic\u00a0anomalies, suspicious for trisomy 13, 18 or 21, abnormal quad screen, abnormal MaterniT21, open neural tube defect (NTD), genetic abnormality carrier and previous child with chromosome abnormality.\u00a0\u00a0It is also relevant in cases to confirm a chromosome diagnosis by FISH and MaterniT21.<\/p>\n

Clinical Background<\/strong><\/p>\n

Chromosome analysis on amniotic fluid is a procedure to rapidly culture and harvest\u00a0amniocytes\u00a0(amniotic cells) from amniocentesis for prenatal diagnosis of genetic and\u00a0de novo<\/em>\u00a0(new or not genetic) chromosomal disorders. This type of analysis detects changes of the chromosome modal number, most often the common aneuploidies, and within the chromosome structure. Changes due to chromosome structure are usually associated with deletions or additions due to parent carrier status.\u00a0\u00a0Amniocytes\u00a0are most viable when drawn by amniocentesis performed between 15 and 18 weeks gestation.<\/p>\n

Methods<\/strong><\/p>\n

Amniotic fluid samples are long term cultures set up using the\u00a0in situ<\/em>\u00a0method.\u00a0\u00a0If two tubes with fluid are received, two cultures are initiated, \u201cA\u201d and \u201cB\u201d. The cells are usually ready for harvest in about 7 days. Fifteen cells are counted and only one metaphase from each\u00a0in situ<\/em>\u00a0colony is studied.\u00a0\u00a0Usually 8 cells from \u201cA\u201d culture\u00a0is\u00a0counted with 3 analyzed and 7 cells from \u201cB\u201d culture is counted with 2 analyzed, for a minimum of 5 completely analyzed metaphases.\u00a0\u00a0Abnormal cases may require analysis of additional cells which sometimes results in longer culturing time and turnaround time.<\/p>\n

Interpretation of Results<\/strong><\/p>\n

The morphologic interpretation and correlation of results on all cases is performed by a board-certified doctoral level scientist (laboratory director).\u00a0<\/strong>The final report identifies the chromosomal sex and modal chromosome number.\u00a0\u00a0If abnormalities are present, they are explained in a paragraph which helps to clarify and correlate chromosomal findings with phenotype. Genetic counseling is recommended when chromosome aberrations, mosaic conditions, or unusual results are found, along with recommendation for further testing (i.e. microarray).\u00a0\u00a0References are included in the report to help the referring physician with interpretation, which include books or journals that contain appropriate information.<\/p>\n

AFP \/\u00a0AChE<\/strong><\/p>\n

Alpha-fetoprotein (AFP) is a screening test to detect developmental abnormalities in the fetus.\u00a0\u00a0An AFP test is usually requested with the chromosome analysis.\u00a0\u00a0When the AFP is elevated, it is automatically reflexed for\u00a0acetylcholinesterase\u00a0testing.[\/vc_column_text][\/vc_column][vc_column width=”1\/3″][\/vc_column][\/vc_row]<\/p>\n<\/div>","protected":false},"excerpt":{"rendered":"

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