Precise DNA Genotyping Diagnosis of Hydatidiform Mole

• DOI: 10.1097/aog.0b013e3181d489ec
• Publication Date: 2010-03-17T05:52:40Z
• Authors: Fredilyn Lipata; Vinita Parkash; Monica Talmor; Susan Bell; Suping Chen; Vesna Maric; Pei Hui
• Keywords: Trisomy; Products of conception

In Brief OBJECTIVE: To estimate whether tissue DNA genotyping is effective for the confirmation and subclassification of hydatidiform moles. METHODS: Consecutive cases products conception were selected based on histologic alterations that are suspicious molar pregnancy. was performed by a multiplex polymerase chain reaction targeting 15 tetrameric polymorphic loci human genome. RESULTS: A total 205 included. informative in all, leading to final identification 60 moles, including 17 complete 43 partial Among 14 monospermic three dispermic. Forty-three confirmed as triploid 42 which dispermic one monospermic. nonmolar cases, 32 gestations showed allelic changes indicating chromosomal alterations, 28 trisomy syndrome: 16 (eight cases), 21 (six 7 (three 13 4 (one case), 8 18 XXY/Klinefelter syndrome multiple trisomies (four cases). Monosomy 22 seen case. Two digynic–monoandric gestations. More complex abnormalities The remaining 113 balanced biallelic CONCLUSION: Tissue practical highly accurate method LEVEL OF EVIDENCE: III