PDF(Pubmed)
Abstract：
BACKGROUND: 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.
METHODS: 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.
METHODS: Based on the clinical characteristics, imaging, and genetic test findings, the postoperative diagnosis was PMD.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: 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.
METHODS: Based on the clinical characteristics, imaging, and genetic test findings, the postoperative diagnosis was PMD.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
背景：胎盘间质发育不良（PMD）是一种罕见的胎盘疾病，通常与严重的母体和/或胎儿并发症有关。其超声表现与葡萄胎非常相似。因此，PMD易误诊为葡萄胎。在这项研究中,我们报告了PMD的临床特征,并分析了其与其他严重孕产妇和/或胎儿并发症的关系.
方法：一位28岁的女性，由于超声诊断为部分葡萄胎，妊娠2，第1段在15周+2天时被转诊到我们的妇幼保健医院。妊娠第19周羊膜腔穿刺术染色体核型+基于单核苷酸的基因芯片分析显示胎儿羊膜腔穿刺术染色体46,XN,AffymetrixCytoScan750K阵列的高分辨率染色体微阵列分析显示，染色体2p16.3中包含OMIM基因NRXN1的210kb片段缺失，缺失的片段来自具有正常表型的母亲。孕妇在36周+5天分娩了一个健康的女婴。
方法：根据临床特点，成像,和基因测试结果，术后诊断为PMD。
方法：因为\"疤痕子宫\"和\"葡萄胎妊娠，一名2490克女婴在妊娠36周+5天通过剖宫产分娩，阿普加评分为9/9。
结果：分娩10天后，母体人绒毛膜促性腺激素水平降至正常范围，随访3个月后未发现异常。
结论：从我们的病例和从PMD文献综述中获得的其他19例病例与独特的临床相关，实验室,和与葡萄胎相比的影像学特征，如彩色玻璃标志，血清人绒毛膜促性腺激素的正常血清水平，甲胎蛋白水平升高和女性胎儿。
方法：一位28岁的女性，由于超声诊断为部分葡萄胎，妊娠2，第1段在15周+2天时被转诊到我们的妇幼保健医院。妊娠第19周羊膜腔穿刺术染色体核型+基于单核苷酸的基因芯片分析显示胎儿羊膜腔穿刺术染色体46,XN,AffymetrixCytoScan750K阵列的高分辨率染色体微阵列分析显示，染色体2p16.3中包含OMIM基因NRXN1的210kb片段缺失，缺失的片段来自具有正常表型的母亲。孕妇在36周+5天分娩了一个健康的女婴。
方法：根据临床特点，成像,和基因测试结果，术后诊断为PMD。
方法：因为\"疤痕子宫\"和\"葡萄胎妊娠，一名2490克女婴在妊娠36周+5天通过剖宫产分娩，阿普加评分为9/9。
结果：分娩10天后，母体人绒毛膜促性腺激素水平降至正常范围，随访3个月后未发现异常。
结论：从我们的病例和从PMD文献综述中获得的其他19例病例与独特的临床相关，实验室,和与葡萄胎相比的影像学特征，如彩色玻璃标志，血清人绒毛膜促性腺激素的正常血清水平，甲胎蛋白水平升高和女性胎儿。
