Complete Hydatidiform Mole with a Coexisting Viable Male Fetus Detected by Cell-Free DNA

Abstract

Complete hydatidiform mole with coexisting fetus (CHMCF) is rare, and diagnosis is challenging due to limited data. Here, we present the case of a patient with noninvasive prenatal test (NIPT) resulting in “likely molar pregnancy” in the second trimester. Subsequent ultrasound confirmed a cystic appearing portion of the placenta. At 22 weeks, the patient delivered a demised fetus and two placentas. Pathology was consistent with CHMCF. This case is the first to show primary detection of a CHMCF with single-nucleotide polymorphism (SNP)-based NIPT prior to ultrasound identification. Our case suggests the use of SNP-based NIPT as an alternative noninvasive method to guide shared decision-making and clinical management for patients with this diagnosis.

Keywords

complete hydatidiform mole - twin pregnancy - molar pregnancy - noninvasive prenatal testing - SNP-based

Publication History

Received: 07 July 2023

Accepted: 08 August 2023

Article published online:
30 September 2023

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