Cell-Free DNA as an Addition to Ultrasound for Screening of a Complete Hydatidiform Mole and Coexisting Normal Fetus Pregnancy: A Case Report

Background Complete hydatidiform mole and coexisting normal fetus pregnancies (CHMCF) are rare and can be life-threatening to the mother. Definitive diagnosis can be made with chorionic villus sampling or amniocentesis. However invasive procedures carry a risk of bleeding. We present the case of a t...

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Bibliographic Details
Main Authors: Martina G. Gabra, Maritza G. Gonzalez, Holly N. Bullock, Meghan G. Hill
Format: Article
Language:English
Published: Thieme Medical Publishers, Inc. 2020-04-01
Series:American Journal of Perinatology Reports
Subjects:
Online Access:http://www.thieme-connect.de/DOI/DOI?10.1055/s-0040-1709981
Description
Summary:Background Complete hydatidiform mole and coexisting normal fetus pregnancies (CHMCF) are rare and can be life-threatening to the mother. Definitive diagnosis can be made with chorionic villus sampling or amniocentesis. However invasive procedures carry a risk of bleeding. We present the case of a twin molar pregnancy where a cell-free DNA screening test was utilized to evaluate for CHMCF pregnancy. Case A patient presented at 15-week gestational age with suspected CHMCF pregnancy. Ultrasound revealed a normal-appearing pregnancy abutting a multicystic lesion concerning for a complete mole. Cell-free DNA was obtained and was suggestive of complete paternal uniparental disomy. Pathological evaluation of the products of conception confirmed the diagnosis of CHMCF. Conclusion In atypical cases, cell-free DNA may be useful in evaluation of molar pregnancy.
ISSN:2157-6998
2157-7005