• Ping Tang, Xiaoying Jin, Jiarui Li, Liyan Zhang, Yuan Li, and Shengfeng Xu.
• Jiaxing Maternity and Children Health Care Hospital/TheAffiliated Women and Children's Hospital of Jiaxing University, Jiaxing, Zhejiang, China.
• Medicine (Baltimore). 2023 Apr 14; 102 (15): e33438e33438.

RationalePlacental mesenchymal dysplasia (PMD) is a rare placental disease frequently associated with severe maternal and/or fetal complications. Its sonographic appearance is very similar to that of a hydatidiform mole. Hence, PMD is easily misdiagnosed as a hydatidiform mole. In this study, we reported the clinical features of PMD and analyzed its relationship to other severe maternal and/or fetal complications.Patient ConcernsA 28-year-old female, gravida 2, para 1, was referred to our maternal and child health hospital at 15 weeks + 2 days due to an ultrasonic diagnosis of partial hydatidiform mole. Analysis of chromosome karyotype + mononucleotide-based gene microarray by amniocentesis at the 19th week of gestation showed that fetal amniocentesis chromosome 46, XN, high-resolution chromosome microarray analysis of Affymetrix CytoScan 750K Array revealed a 210 kb fragment deletion in chromosome 2p16.3 containing NRXN1, an OMIM gene, the deleted fragment was derived from a mother with a normal phenotype. The pregnant woman delivered a healthy baby girl at 36 weeks + 5 days.DiagnosesBased on the clinical characteristics, imaging, and genetic test findings, the postoperative diagnosis was PMD.InterventionBecause of "Scar uterus" and "Pregnancy with hydatidiform mole," a 2490 g female infant was delivered by cesarean section at 36 weeks + 5 days of gestation with an Apgar score of 9/9.OutcomesThe maternal human chorionic gonadotropin level decreased to the normal range after 10 days of delivery, and the infant was not found abnormal after 3 months of follow-up.LessonsFrom our cases and 19 other cases obtained from the PMD literature review are associated with unique clinical, laboratory, and imaging features compared with a hydatidiform mole, such as stained glass sign, normal serum levels of serum human chorionic gonadotropin, elevated alpha-fetoprotein levels and female fetus.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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