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Placental mesenchymal dysplasia (PMD) is a rare placental pathology that sonographically mimics gestational trophoblastic diseases. However, mesenchymal dysplasia can be distinguished from other conditions by the presence of villous edema and the absence of trophoblastic proliferation in the placental tissue. This pathology has been demonstrated to be associated with fetal growth restriction, Beckwith-Wiedemann syndrome, some chromosomal abnormalities and intrauterine fetal demise.

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Intrauterine and Neonatal Deaths: The 2013-2023 Experience of the Cuyahoga County Medical Examiner's Office.

Am J Forensic Med Pathol

January 2025

Deputy Medical Examiner, Cuyahoga County Medical Examiner's Office, Cleveland, OH.

Forensic investigation of intrauterine and perinatal deaths can be challenging, given their relative infrequency and the possible involvement of maternal substance use, trauma, and socioeconomic factors. Intrauterine and perinatal deaths investigated by the Cuyahoga County Medical Examiner's Officer between 2013-2023 were reviewed. One hundred twenty-eight cases were identified (83 stillborn and 45 live births).

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Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction. Most cases are caused by an imprinting error either with hypomethylation of the Imprinted Control Region 1 at 11p15.5, or maternal uniparental disomy of chromosome 7.

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We report the case of a woman in her early 30 s who was diagnosed with Robert's uterus. She had been experiencing progressive dysmenorrhea for a decade and sought treatment for infertility at our hospital. Preoperative ultrasound imaging resulted in a misdiagnosis of a complete uterine septum with an accompanying ovarian cyst.

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Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome.

Front Pediatr

January 2025

Henan Provincial Institute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.

Objective: Our study aimed to collect fetuses with recurrent 1q21.1 deletion or duplication syndrome for systematic clinical phenotype analysis to further delineate the intrauterine phenotype features of the two reciprocal syndromes.

Methods: Prenatal samples, including amniotic fluid and chorionic villus samples, were obtained by amniocentesis and chorionic villus sampling at our center, respectively.

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