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Case Report: Candidate Genes Associated With Prenatal Ultrasound Anomalies in a Fetus With Prenatally Detected 1q23.3q31.2 Deletion.

ABSTRACT: Background: Patients with deletions involving the long arm of chromosome 1 are rare, and the main aim of this study was to refine the genotype-phenotype correlation. Case Report: In this report, a 28-year-old pregnant woman, gravida 2 para 1, at 25⁺⁴ weeks of gestation underwent ultrasound examination in our institute. The ultrasonographic findings of the fetus were as follows: (1) fetal growth restriction; (2) cleft lip and palate; (3) bilateral renal hypoplasia; (4) lateral ventriculomegaly; (5) single umbilical artery; (6) absent stomach; (7) coronary sinus dilatation with persistent left superior vena cava, ventricular septal defect and unroofed coronary sinus syndrome. Chromosomal microarray analysis of amniotic fluid from the fetus revealed a 28.025 Mb deletion in 1q23.3q31.2, spanning from position 164,559,675 to 192,584,768 (hg19). Conclusion: Genotype-phenotype correlation might improve prenatal diagnosis of fetuses with chromosome 1q deletion. PBX1 could be a candidate gene for fetal growth restriction, renal hypoplasia and congenital heart disease. Fetal growth restriction was accompanied by decreased renal volume in the fetus. Combined with ultrasonic examination, the application of chromosomal microarray analysis will provide accurate prenatal diagnosis.

SUBMITTER: Song J

PROVIDER: S-EPMC8496901 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Prenatal Diagnosis and Molecular Cytogenetic Characterization of Copy Number Variations on 4p15.2p16.3, Xp22.31, and 12p11.1q11 in a Fetus with Ultrasound Anomalies: A Case Report and Literature Review.

Project description:Chromosomal rearrangements, such as duplications/deletions, can lead to a variety of genetic disorders. Herein, we reported a prenatal case with right aortic arch and aberrant left subclavian artery, consisting of a complex chromosomal copy number variations. Routine cytogenetic analysis described the chromosomal karyotype as 46,XY, add (2)(q37) for the fetus. However, the chromosomal microarray analysis (CMA) identified a 22.4 Mb duplication in chromosome 4p16.3p15.2, a 3.96 Mb microduplication in 12p11.1q11, and a 1.68 Mb microdeletion in Xp22.31. Fluorescence in situ hybridization (FISH) using a chromosome 4 painting probe was found to hybridize to the terminal of chromosome 2q on the fetus, thus confirming that the extra genetic materials of chromosome 2 was actually trisomy 4p detected through CMA. Meanwhile, the parental karyotypes were normal, which proved that the add (2) was de novo for fetus. The duplication of Wolf-Hirschhorn syndrome critical region (WHSCR) and X-linked recessive ichthyosis associated with Xp22.31 deletion separately were considered potentially pathogenic causes although other abnormalities involving these syndromes were not observed. For prenatal cases, the combined utilization of ultrasonography, traditional cytogenetic, and molecular diagnosis technology will enhance better diagnostic benefits, offer more detailed genetic counselling, and assess the prognosis of the fetuses.

| S-EPMC7275220 | biostudies-literature

Prenatal diagnosis of 6pter-p24 deletion syndrome in a fetus from a Han Chinese family: A case report.

Project description:INTRODUCTION:Chromosome 6pter-p24 deletion syndrome (OMIM #612582) is a rare genetic disorder characterized by deletion of the distal part of 6p. Human 6p deletion syndromes result in a variety of congential malformations. PATIENT CONCERNS:The fetus was the fourth child born to healthy non-consanguineous parents with no relevant family history. DIAGNOSIS:The fetus was diagnosed with 6pter-p24 deletion syndrome through prenatal ultrasound, magnetic resonance imaging, and chromosomal microarray analysis. The fetus had brain, skeletal, and heart malformations. The fetus was cytogenetically normal. Chromosomal microarray analysis detected an interstitial 7.999Mb deletion within the 6p25.1p24.3 region of chromosome 6. INTERVENTIONS:There was no treatment for the fetus. OUTCOMES:Pregnancy was terminated. CONCLUSIONS:To the author's knowledge, the present case is one of the first to report the prenatal diagnosis of 6pter-p24 deletion syndrome in a fetus. No published reports have described the diagnosis of 6pter-p24 deletion syndrome using multiple technologies during the antenatal period; therefore, our findings may provide a reference for other clinicians. The clinical features and pathophysiology of this prenatal diagnosis are discussed.

| S-EPMC7034732 | biostudies-literature

Prenatal diagnosis of Bardet‑Biedl syndrome due to novel variants in the BBS10 gene in a fetus with multiple anomalies: A case report.

Project description:Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by obesity, mental retardation, retinal dystrophy, hypogenitalism and renal and polydactyly malformations. The last two malformations may be observed antenatally and are highly variable, making the prenatal diagnosis of BBS challenging. The present study investigated the molecular etiology of BBS and validated a method for prenatal diagnosis. A Chinese couple who had conceived two fetuses with multiple malformations, including hyperechogenic kidneys, polydactyly, cardiac malformation and abdominal abnormalities, presented at the Prenatal Diagnosis Center of Boai Hospital of Zhongshan Affiliated to Southern Medical University (Zhongshan, China) in November 2018. BBS was suspected and whole-exome sequencing was performed for the second fetus. Two novel compound heterozygous variants were detected in the BBS10 gene, c.784_785delGA from the father and c.1812dupT from the mother, which are probably causative of the pathogenesis of BBS. This finding provided a basis for genetic counseling and prenatal diagnosis for the couple and enriched the variation spectrum of the BBS10 gene. The ultrasonic findings of the fetal abdomen are the first reported in fetuses with BBS, expanding the antenatal phenotypes of BBS.

| S-EPMC9627110 | biostudies-literature

Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report.

Project description:BackgroundHarlequin ichthyosis (HI) is the most severe form of the keratinizing disorders, and it is characterized by whole-body hard stratum corneum. ABCA12 has been identified as the major disease-causing gene of HI.MethodsA case of HI was prenatally diagnosed by ultrasonography and genetic tests. The fetus had been found with dentofacial deformity and profound thickening of the palm and plantar soft tissues. Chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were then performed on the amniotic fluid to identify germline pathogenic variants for the fetus. Candidate variants were verified by Sanger sequencing.ResultsCompound heterozygous frameshift variants (p.Q719QfsX21; p.F2286LfsX6) of ABCA12 were identified for the fetus, suggesting the former variants were maternally inherited and the latter paternally inherited. The fetus was terminated.ConclusionA prenatal molecular diagnosis is an important approach for the prevention of HI. In the study, we provided a successful case of genetic counseling for a family with an HI baby.

| S-EPMC7835937 | biostudies-literature

A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report.

Project description:BackgroundChromosome 1p36 deletion syndrome is a contiguous genetic disorder with multiple congenital anomalies and mental retardation. It has been emerging as one of the most common terminal deletion syndromes in humans with the rapid utility of microarray analysis. However, the prenatal findings of 1p36 deletion syndrome are still limited. We report a fetus with 1p36 deletion and cardiac phenotype of dextrocardia, combined with a balanced translocation between chromosome 5 and 6. The phenotype of dextrocardia is rarely reported in prenatal 1p36 deletion cases.Case presentationWe present a prenatal 1p36 deletion case with congenital heart diseases and single umbilical artery. Fetal echocardiography showed dextrocardia, ventricular septal defect and pericardial effusion. Fetal karyotype revealed a de novo balanced translocation of 46,XY,t(5;6)(q11.2;q23.3). Chromosomal microarray analysis detected a pathogenic deletion in 1p36.21p36.12, with the size of 6.38 Mb. Further whole genome sequencing revealed that the balanced translocation disrupted the EYA4 and ITGA1 genes.ConclusionsAlthough congenital heart diseases are very common clinical manifestations among patients with 1p36 deletion, dextrocardia is a quite rare cardiac phenotype. This is the second case with 1p36 deletion and dextrocardia, and the first prenatally diagnosed 1p36 deletion case with dextrocardia. Our case indicates that genes in 1p36 are associated with not only heart structural anomalies, but also cardiac laterality development. Our results also imply that the EYA4 gene disrupted by the balanced translocation might be related with the cardiac development.

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Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report.

Project description:ObjectiveThis study aimed to report a fetus with maternal partial trisomy 9p and 14q and the phenotype detected in ultrasound.MethodsThe chromosome rearrangements in the fetus were characterized by G-banding and chromosome microarray analysis based on single nucleotide polymorphism (SNP) array of cultured amniocytes and compared with the parents' karyotypes.ResultsThe fetal abnormal karyotype was 47,XY,+der(14)(9;14)(p23;q22). The SNP array revealed a duplicate 11.8-Mb 9p23-p24.3 fragment and a duplicate 29.6-Mb 14q11.2-q21.3 fragment. The peripheral blood karyotype of the mother was 46,XX,t(9;14)(p23;q22), while the father's was normal at the level of 300~400 bands. A high-resolution karyotype analysis conformed the same abnormality of the mother at the level of 550~650 bands. These results indicated that the fetal chromosomal abnormality probably derived from the mother. The fetal nuchal translucency thickness was 3.5 mm, and the fetal heart was detected with around 1.0-mm ventricular defect by the ultrasound examination at 12-week gestation. The couple decided to terminate the pregnancy. They opted for in vitro fertilization and embryo transfer for the fourth pregnancy, which was successful.ConclusionsThe SNP array combined with cytogenetic analysis was particularly effective in identifying abnormal chromosomal rearrangements. These methods combined with the existing database information and fetal ultrasonography might provide a comprehensive and efficient way for the prenatal assessment of fetal situations. Preimplantation genetic diagnosis might effectively assist those women with an adverse pregnancy history in their next pregnancy.

| S-EPMC7006427 | biostudies-literature

Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report.

Project description:BackgroundBranchio-oto-renal (BOR) syndrome is an autosomal-dominant disorder characterized by branchial arch anomalies, hearing loss, and kidney defects. Mutations in the human EYA1 gene have been reported associated with BOR syndrome. Here we identified that a novel variant, EYA1: NM_000503.4: c.827-1G > C (Intron 8, shear mutation) was associated with BOR in a fetus of a Chinese family.Case presentationPrenatal ultrasound examination showed that both kidneys of the fetus were small and the echo of both kidneys was enhanced. The amount of amniotic fluid was normal, and no other structural abnormalities of the fetus were found. Fetal umbilical cord blood puncture was performed. No abnormality was found in karyotyping and chromosomal microarray analysis (CMA) results. Thus, we performed a trio-based whole exome sequencing (WES), and found that the fetus carried a novel homozygous variant, EYA1: NM_000503.4: c.827-1G > C (Intron 8, shear mutation), but the parents do not have this mutation. The variation sites of fetus and parents were verified by Sanger sequencing to clarify the source of pathogenic variation.ConclusionCombined with fetal imaging examination, the novel variation of EYA1: NM_000503.4: c.827-1G > C is the cause of fetal renal dysplasia. This case report indicates that the early use of appropriate technology can clarify the etiology of fetal disease and guide prognosis consultation.

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Diagnosis of retrotracheal left brachiocephalic vein with prenatal ultrasound: a case report.

Project description:Retroesophageal or retrotracheal left brachiocephalic vein (LBCV) is a rare anatomic variant that is often associated with congenital heart disease. It is rarely reported in fetal life, and an isolated fetal retroesophageal LBCV has a good prognosis: it is typically asymptomatic, although respiratory symptoms or swallowing disorders occasionally occur. A variant was observed on fetal echocardiography at 22+6 weeks of gestation. The 3-vessel view revealed a transverse section of a vessel to the left of the pulmonary artery. Tracing upwards along its long axis showed that the left subclavian vein joined the left internal jugular vein to form the LBCV, and tracing downwards revealed that the vessel traveled to the right and lower side, where it merged into the superior vena cava via the azygos vein behind the aortic arch. The variant was identified as retrotracheal LBCV. Three-dimensional (3D) reconstruction of fetal great vessels was performed using temporal spatial correlation imaging. The left internal jugular vein and the left subclavian vein converged into the LBCV, then bypassed behind the trachea and converged into the superior vena cava via the azygous vein. As a 3D technique, spatio-temporal image correlation (STIC) can visualize the abnormal courses of LBCV, thus improving the diagnostic accuracy. This article presents the 2-dimensional (2D) ultrasound, color Doppler, and STIC findings of an isolated retrotracheal LBCV, which may inform the sonographic diagnosis of such variants.

| S-EPMC8349951 | biostudies-literature

Paradoxical venous air embolism detected with point-of-care ultrasound: a case report.

Project description:Venous air embolism (VAE) is an uncommon event consistent in the entrainment of air from any communication between the environment and the venous vasculature that could occur during central venous catheter (CVC) manipulation, and might trigger circulatory shock within minutes depending on the amount of air embolized. We present a case of a critical care patient who presented sudden clinical hemodynamic deterioration after the removal of central venous catheter. Hemodynamic evaluation with point-of-care ultrasound (POCUS) showed bubbles in both right and left heart cavities wherewith air embolism facilitated by heart septal defect was suspected. Therefore, the patient was reintubated, supported with vasopressors and a new CVC was inserted to proceed with air aspiration. Shortly after, the patient's hemodynamic status improved in terms of vital signs stabilization. 6 h after the event with optimal perfusion markers and diminished sedation, the patient showed left hemiparesis therefore a cerebral magnetic resonance (MRI) was also performed showing hyperintensity in the right precentral gyrus, so ischemic stroke without hemorrhagic transformation diagnosis was made, because of paradoxical embolism. This case report demonstrates the value of POCUS application as a diagnostic tool in the hemodynamically unstable patient.

| S-EPMC9116074 | biostudies-literature

Necrotizing fasciitis following gastrostomy tube placement, detected by point-of-care ultrasound, case report.

Project description:IntroductionNecrotizing fasciitis is a recognized rare complication of gastrostomy tube replacement, but if it occurs and is not discovered early, a lethal outcome is possible.Case presentationWe present a woman in her 80s who was known to have chronic atrial fibrillation with ischemic heart disease. She was fed through percutaneous endoscopic gastrostomy after brain injury. Erythema was observed around the stoma of the gastrostomy tube, which was later removed, and erythema extended to the left anterior abdomen. The patient was diagnosed with cellulitis. Point-of-care ultrasound examination suspected necrotizing fasciitis and, confirmed later by computerized tomography of the abdomen. The case was managed surgically.DiscussionPatients with a high clinical suspicion of necrotizing fasciitis should undergo early surgical debridement with antibiotic administration. Necrotizing fasciitis starts with a clinical picture indistinguishable from other skin infections, such as cellulitis, and imaging modalities are important for confirmation and early diagnosis. We present a case of necrotizing fasciitis after gastrostomy tube replacement for which point-of-care ultrasound played a pivotal role in confirming the diagnosis early.ConclusionPoint-of-care ultrasound is a useful adjunct tool for clinical evaluation and assessment in diagnosing early critically ill patients with life-threatening necrotizing infections.

| S-EPMC10563042 | biostudies-literature

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