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

 

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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.

Publication History

Received: 07 July 2023

Accepted: 08 August 2023

Article published online:
30 September 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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• References

• 1 Steller MA, Genest DR, Bernstein MR, Lage JM, Goldstein DP, Berkowitz RS. Clinical features of multiple conception with partial or complete molar pregnancy and coexisting fetuses. J Reprod Med 1994; 39 (03) 147-154
  PubMedGoogle Scholar
• 2 Simon AL, Su B, Demko Z, Rabinowitz M, Harmon ER, Gross SJ. Detection of complete molar pregnancy by single-nucleotide polymorphism-based non-invasive prenatal testing. Ultrasound Obstet Gynecol 2015; 46 (04) 506-507
  CrossrefPubMedGoogle Scholar
• 3 Gabra MG, Gonzalez MG, Bullock HN, Hill MG. Cell-free DNA as an addition to ultrasound for screening of a complete hydatidiform mole and coexisting normal fetus pregnancy: a case report. AJP Rep 2020; 10 (02) e176-e178
  Article in Thieme ConnectPubMedGoogle Scholar
• 4 Wolfberg AJ, Feltmate C, Goldstein DP, Berkowitz RS, Lieberman E. Low risk of relapse after achieving undetectable HCG levels in women with complete molar pregnancy. Obstet Gynecol 2004; 104 (03) 551-554
  CrossrefPubMedGoogle Scholar
• 5 Braga A, Obeica B, Werner H. et al. A twin pregnancy with a hydatidiform mole and a coexisting live fetus: prenatal diagnosis, treatment, and follow-up. J Ultrason 2017; 17 (71) 299-305
  CrossrefPubMedGoogle Scholar
• 6 Creasy RK, Resnik R, Iams JD. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice. 6th ed.. Philadelphia, PA: Saunders/Elsevier; 2009
  Google Scholar
• 7 Luker G. Twin pregnancy; hydatidiform mole associated with normal ovum; abortion at four months. Proc R Soc Med 1914; 7 (Obstet Gynaecol Sect): 113
  PubMedGoogle Scholar
• 8 Zilberman Sharon N, Maymon R, Melcer Y, Jauniaux E. Obstetric outcomes of twin pregnancies presenting with a complete hydatidiform mole and coexistent normal fetus: a systematic review and meta-analysis. BJOG 2020; 127 (12) 1450-1457
  CrossrefPubMedGoogle Scholar
• 9 Irani RA, Holliman K, Debbink M. et al. Complete molar pregnancies with a coexisting fetus: pregnancy outcomes and review of literature. AJP Rep 2021; 12 (01) e96-e107
  PubMedGoogle Scholar
• 10 Curnow KJ, Wilkins-Haug L, Ryan A. et al. Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test. Am J Obstet Gynecol 2015; 212 (01) 79.e1-79.e9
  CrossrefPubMedGoogle Scholar
• 11 Kantor V, Jelsema R, Xu W. et al. Non-invasive prenatal screening for fetal triploidy using single nucleotide polymorphism-based testing: differential diagnosis and clinical management in cases showing an extra haplotype. Prenat Diagn 2022; 42 (08) 994-999
  CrossrefPubMedGoogle Scholar
• 12 Braga A, Uberti EM, Fajardo MdoC. et al. Epidemiological report on the treatment of patients with gestational trophoblastic disease in 10 Brazilian referral centers: results after 12 years since International FIGO 2000 Consensus. J Reprod Med 2014; 59 (05) (06) 241-247
  PubMedGoogle Scholar
• 13 Arigita M, Illa M, Nadal A. et al. Chorionic villus sampling in the prenatal diagnosis of placental mesenchymal dysplasia. Ultrasound Obstet Gynecol 2010; 36 (05) 644-645
  CrossrefPubMedGoogle Scholar
• 14 Bovicelli L, Ghi T, Pilu G. et al. Prenatal diagnosis of a complete mole coexisting with a dichorionic twin pregnancy: case report. Hum Reprod 2004; 19 (05) 1231-1234
  CrossrefPubMedGoogle Scholar