Abstract
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.
Keywords
complete hydatidiform mole and coexisting normal fetus - cell-free DNA - twin-molar
pregnancy - hyperemesis gravidarum
