Dataset Information

Prenatal detection of a 3q29 microdeletion in a fetus with ventricular septum defect: A case report and literature review.

ABSTRACT:

Rationale

Chromosomal 3q deletion is a recurrent genomic alternation, which is rarely reported in clinic.

Patient concerns

A 27-year-old woman underwent amniocentesis for cytogenetic analysis and single nucleotide polymorphism (SNP) array analysis at 27?weeks of gestation, due to ventricular septum defect in prenatal ultrasound findings.

Diagnoses

G-banding analysis showed the karyotype of the fetus was normal and the couple also had normal karyotypes. However, SNP array detected a 1.71 Mb microdelection in 3q29, which was described as arr[hg19]3q29(194184392-195887205)?×?1. There are 12 genes located in this locus.

Interventions

The couple refused SNP array to testify the 3q29 microdeletion was inherited or de novo and they chose termination of pregnancy.

Outcomes

The deleted region in the fetus overlapped with part 3q29 microdeletion syndrome, which was characterized by learning disability, speech delay, mental deficiency, ocular abnormalities and craniofacial features. In addition, no similar/overlapping 3q29 microdeletion cases were reported according to the published literature and database.

Lessons

For the chromosomal microscopic imbalances partially overlapping with the defined pathogenic syndrome, deleted/duplicated size, genetic materials and phenotypic diversity should be taken into consideration when genetic counseling is offered by the clinicians.

SUBMITTER: Yue F

PROVIDER: S-EPMC7793333 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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Publications

Prenatal detection of a 3q29 microdeletion in a fetus with ventricular septum defect: A case report and literature review.

Yue Fagui F Deng Shu S Xi Qi Q Jiang Yuting Y He Jing J Zhang Hongguo H Liu Ruizhi R

Medicine 20210101 1

<h4>Rationale</h4>Chromosomal 3q deletion is a recurrent genomic alternation, which is rarely reported in clinic.<h4>Patient concerns</h4>A 27-year-old woman underwent amniocentesis for cytogenetic analysis and single nucleotide polymorphism (SNP) array analysis at 27 weeks of gestation, due to ventricular septum defect in prenatal ultrasound findings.<h4>Diagnoses</h4>G-banding analysis showed the karyotype of the fetus was normal and the couple also had normal karyotypes. However, SNP array de ...[more]

PMID: 33429816

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Project description:IntroductionUrorectal septum malformation sequence (URSMS) is a rare congenital abnormal syndrome that is caused by the incomplete division of the cloaca. Based on whether the cloaca membrane breaks down or not, the URSMS are classified as full and partial forms. The prenatal diagnosis of URSMS remains challenging because of poor recognition to this malformation and the relatively non-specific sonographic features. We report a prenatally sonographic diagnosed case of the partial URSMS, and review the literature to summarize the prenatal features.Case report and reviewA 37-year old woman was referred at 24 weeks of gestation for fetal abdominal cyst. Detailed sonographic examination was done and revealed the vesicocolic fistula, distended colon, absence of perianal hypoechoic ring, pyelectasis, and small stomach bubble. The URSMS was suspected.Amniocentesis was done and karyotyping revealed 46,XY. Furthermore, chromosomal microarray analysis (CMA) was performed for the first time in URSMS and an alteration of 111.8Kb deletion was detected in 16p13.3 which was located inside the RBFOX1 gene. Parental studies showed that the deletion was inherited from the father who has nomal clinical phenotype.The woman elected to terminate the pregnancy at 25 weeks gestation and postmortem examination confirmed the diagnosis of partial URSMS.The published studies were reviewed and 28 cases of URSMS with conducted prenatal ultrasonography were collected in this report. The most common sonographic description, as suspicious signs of URSMS, were severe oligohydramnios or anhydramnios, urinary tract anomalies, fetal intra-abdominal cysts, and dilated bowel. Also, enterolithiasis and vesicocolic fistula were relatively infrequent but highly specific feature of URSMS.ConclusionsURSMS is difficult to be diagnosed prenatally. However, it has characteristic features that can be detected by fetal ultrasonography, and a precise prenatal sonographic examination is crucial for diagnosing URSMS. Besides, more genomic profiling studies are needed to elucidate the causality.

Project description:Background15q24 microdeletion is a relatively new syndrome caused by nonallelic homologous recombination (NAHR) between low-copy repeats (LCRs) in the 15q24 chromosome region. This syndrome is characterized by a spectrum of clinical symptoms including global developmental delay, intellectual disability, facial dysmorphisms, and congenital malformations of the extremities, eye, gastrointestinal tract, genitourinary system, and genitalia.MethodMolecular cytogenetic analysis was performed using whole genome single-nucleotide polymorphism (SNP) microarray analysis. Autopsy examination including gross and microscopic examination were performed. In addition, a thorough review of the literature on 15q24 microdeletion was completed and summarized in table format.ResultMolecular cytogenetic analysis revealed a 3.88 MB interstitial deletion within 15q24.1 to 15q24.3 (74,353,735-78,228,485 bp) in our case. Autopsy examination showed congenital malformations within the genitourinary system and genitalia, including left kidney agenesis and uterus didelphys. After thorough literature review, we found a series of midline defects associated with 15q24 microdeletion syndrome.ConclusionWe report the first case of coexistence of urogenital abnormalities, including left kidney agenesis and uterus didelphys, with 15q24 microdeletion syndrome, which is also associated with midline defects secondary to abnormal development. Since 15q24 microdeletion syndrome is a relatively new entity, fully characterizing its variation and severity requires additional examination of the genetics, molecular profile and structural and functional abnormalities in affected patients. Due to the limited data in the literature, statistical analysis of abnormalities in each organ system is not possible. However, we can predict that novel genetic pathways involving cell migration, adhesion, apoptosis, and embryo development might be discovered with the advanced study of 15q24 microdeletion syndrome.

Dataset Information

Prenatal detection of a 3q29 microdeletion in a fetus with ventricular septum defect: A case report and literature review.

Rationale

Patient concerns

Diagnoses

Interventions

Outcomes

Lessons

Publications

Prenatal detection of a 3q29 microdeletion in a fetus with ventricular septum defect: A case report and literature review.

Similar Datasets

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