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Misdiagnosis of placental mesenchymal dysplasia as pregnancy with hydatidiform mole: A case report and literature review
Placental 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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Lippincott Williams & Wilkins
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10101295/ https://www.ncbi.nlm.nih.gov/pubmed/37058041 http://dx.doi.org/10.1097/MD.0000000000033438 |
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author | Tang, Ping Jin, Xiaoying Li, Jiarui Zhang, Liyan Li, Yuan Xu, Shengfeng |
author_facet | Tang, Ping Jin, Xiaoying Li, Jiarui Zhang, Liyan Li, Yuan Xu, Shengfeng |
author_sort | Tang, Ping |
collection | PubMed |
description | Placental 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 CONCERNS: A 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. DIAGNOSES: Based on the clinical characteristics, imaging, and genetic test findings, the postoperative diagnosis was PMD. INTERVENTION: Because 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. OUTCOMES: The 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. LESSONS: From 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. |
format | Online Article Text |
id | pubmed-10101295 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Lippincott Williams & Wilkins |
record_format | MEDLINE/PubMed |
spelling | pubmed-101012952023-04-14 Misdiagnosis of placental mesenchymal dysplasia as pregnancy with hydatidiform mole: A case report and literature review Tang, Ping Jin, Xiaoying Li, Jiarui Zhang, Liyan Li, Yuan Xu, Shengfeng Medicine (Baltimore) 5600 Placental 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 CONCERNS: A 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. DIAGNOSES: Based on the clinical characteristics, imaging, and genetic test findings, the postoperative diagnosis was PMD. INTERVENTION: Because 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. OUTCOMES: The 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. LESSONS: From 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. Lippincott Williams & Wilkins 2023-04-14 /pmc/articles/PMC10101295/ /pubmed/37058041 http://dx.doi.org/10.1097/MD.0000000000033438 Text en Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY) (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | 5600 Tang, Ping Jin, Xiaoying Li, Jiarui Zhang, Liyan Li, Yuan Xu, Shengfeng Misdiagnosis of placental mesenchymal dysplasia as pregnancy with hydatidiform mole: A case report and literature review |
title | Misdiagnosis of placental mesenchymal dysplasia as pregnancy with hydatidiform mole: A case report and literature review |
title_full | Misdiagnosis of placental mesenchymal dysplasia as pregnancy with hydatidiform mole: A case report and literature review |
title_fullStr | Misdiagnosis of placental mesenchymal dysplasia as pregnancy with hydatidiform mole: A case report and literature review |
title_full_unstemmed | Misdiagnosis of placental mesenchymal dysplasia as pregnancy with hydatidiform mole: A case report and literature review |
title_short | Misdiagnosis of placental mesenchymal dysplasia as pregnancy with hydatidiform mole: A case report and literature review |
title_sort | misdiagnosis of placental mesenchymal dysplasia as pregnancy with hydatidiform mole: a case report and literature review |
topic | 5600 |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10101295/ https://www.ncbi.nlm.nih.gov/pubmed/37058041 http://dx.doi.org/10.1097/MD.0000000000033438 |
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