Prenatal Diagnosis of Fetal Trisomy 5 Mosaicism with Congenital Pulmonary Airway Malformation Type 3: A Case Report

被引：2

作者：

Bonasoni, Maria Paola ^{[1
]}

Comitini, Giuseppina ^{[2
]}

Tonni, Gabriele ^{[3
]}

Asioli, Silvia ^{[4
]}

Barbieri, Veronica ^{[5
]}

Rinaldini, Monia ^{[6
]}

Marinelli, Maria ^{[7
]}

机构：

[1] IRCCS Tecnol Avanzate Modelli Assistenziali Oncol, Azienda Unita Sanit Locale, Pathol, I-42122 Reggio Emilia, Italy

[2] IRCCS Reggio Emilia, Azienda Unita Sanit Locale, Reggio Emilia, Italy

[3] Azienda Unita Sanit Locale Reggio Emilia, Obstet & Gynecol, Reggio Emilia, Italy

[4] Azienda Unita Sanit Locale Romagna Forli, Pathol, Forli, Italy

[5] IRCCS Reggio Emilia, Azienda Unita Sanit Locale, Reggio Emilia, Italy

[6] IRCCS Reggio Emilia, Azienda Unita Sanit Locale, Cytogenet Lab, Reggio Emilia, Italy

[7] IRCCS Reggio Emilia, Azienda Unita Sanit Locale, Reggio Emilia, Italy

来源：

FETAL AND PEDIATRIC PATHOLOGY | 2022年 / 41卷 / 03期

关键词：

Mosaic trisomy 5; congenital pulmonary airway malformation; cardiac anomalies; UNIPARENTAL DISOMY; CVS MOSAICISM;

D O I：

10.1080/15513815.2020.1831660

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Background Trisomy mosaicism of chromosome 5 is uncommon with few cases described.Case report:A 41-year-old woman underwent ultrasound (US) at 16 weeks, which showed oligohydramnios and intrauterine growth restriction (IUGR). Amniocentesis discovered a karyotype of 47,XX,+5/46,XX. US at 19 weeks disclosed IUGR, enlargement of right side of heart, main pulmonary artery dilatation, and a suspected congenital pulmonary airway malformation (CPAM) in the inferior lobe of the left lung. Due to poor fetal prognosis, the parents opted for legal termination of pregnancy. At postmortem, a wide ventricular septal defect and CPAM type 3 were found. Cytogenetic analyses on fetal tissues detected mosaic trisomy 5 in skin, thymus, kidneys and CPAM. Placenta and fetal peripheral blood revealed normal female karyotype.Discussion/conclusion:These results suggest that if a fetus presents normal phenotypic features, mosaicism may be confined to extraembryonic structures, otherwise, in case of malformations, it may be carried by affected organs.

引用

页码：516 / 522

页数：7

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