OBJECTIVE: To explore the application value of artificial intelligence (AI)-assisted chromosomal karyotype analysis in the diagnosis of prenatal chromosomal mosaicism. METHODS: A retrospective analysis was conducted on 172 pregnant women who underwent amniocentesis at the Department of Medical Genetics and Prenatal Diagnosis, the Third Affiliated Hospital of Zhengzhou University between January 2019 and December 2024. All cases whose fetuses were diagnosed with chromosomal mosaicism via karyotype analysis and stratified into two groups based on the analytical software employed: the conventional analysis group (n = 70), which utilized Leica analysis software for karyotype image recognition and cell counting; and the AI-assisted analysis group (n = 102), which utilized AI-assisted software for the same procedures. The clinical performance of AI-assisted karyotype analysis in diagnosing chromosomal mosaicism was comprehensively evaluated by comparing the types of mosaic karyotypes, distribution of mosaic ratios, and verification outcomes of different detection modalities between the two groups. This study was approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No.: 2024-406-01). RESULTS: No statistically significant difference was observed in baseline characteristics (maternal age, gestational week, and indications for prenatal diagnosis) between the two groups. Regarding the detection efficacy for numerical and structural mosaicisms, no significant difference was found in the detection of numerical mosaicism. However, the conventional analysis group exhibited a significantly higher detection rate of autosomal structural mosaicism compared to the AI-assisted group (11.43% vs. 0.98%, P < 0.05). Numerical mosaicism cases were further verified using copy number variation sequencing (CNV-seq) and/or fluorescence in situ hybridization (FISH). The AI-assisted group demonstrated a significantly lower inconsistency rate (5.56% vs. 20.41%, P < 0.05) compared to the conventional group. For low-proportion (< 10%) chromosomal mosaicism, the AI-assisted group had a significantly lower detection rate (13.25% vs. 29.69%, P < 0.05). Subsequent validation of low-proportion mosaicism by CNV-seq and/or FISH showed a higher consistency rate in the AI-assisted group (81.82% vs. 54.55%), though the difference did not reach statistical significance (P = 0.360). CONCLUSION For the karyotyping analysis of prenatal chromosomal mosaicism, AI-assisted karyotype analysis shows high accuracy and consistency in identifying numerical chromosomal mosaicism, particularly in reducing the detection of low-proportion (< 10%) mosaicism while improving verification accuracy. AI-assisted analysis can significantly improve the detection accuracy of numerical mosaicism and mitigate the risk of misclassification for low-proportion (< 10%) mosaicism, thereby providing more precise clinical evidence for the prenatal diagnosis of chromosomal mosaicisms.
Humans ; Female ; Mosaicism ; Pregnancy ; Karyotyping/methods* ; Artificial Intelligence ; Prenatal Diagnosis/methods* ; Adult ; Retrospective Studies ; Chromosome Disorders/genetics* ; Amniocentesis

BACKGROUND

Proficiency in performing thoracentesis is a key competency recommended in the Medical Schools Objective Project (MSOP) adopted by the American Association of Medical Colleges, USA, that medical students should possess prior to graduation, although they often do not practice it clinically until the later stages of their training. Thiel-embalmed cadavers, which offer a lifelike experience with less irritation than formalin-preserved cadavers, have been increasingly used as early as 1st year medical school to teach such procedures because of their feel-like and look-like real patients. There are no studies on the use of Thiel- cadavers for simulated thoracentesis among medical students in the Philippines.

To evaluate the attitudes and perceptions of medical students on the use of Thiel-soft embalmed cadavers for simulated thoracentesis as to the understanding of thoracic anatomy, overall learning experience, and confidence in performing the procedure in the cadaver and possibly in the clinical setting.

This is a descriptive cross-sectional study among Learning Unit III medical students in the University of the Philippines conducted from June 13 to 17, 2022. In the final station of the Organ System Course 205 of the Department of Anatomy's LEAP II program, a simulated thoracentesis procedure was set up using a Thiel-preserved cadaver with artificially created pleural effusion. After watching and studying thoracic anatomy, watching a video on how thoracentesis was performed by a general surgeon, students performed the procedure, and were asked to answer a 6-question Likert-scale survey to assess their perceptions and attitudes of the simulation procedure. Data was analyzed using descriptive statistics.

Most of the students strongly agreed that practicing thoracentesis on the soft cadaver has improved their understanding of the anatomical basis of doing thoracentesis (97%) and of the steps of the procedure (94.9%). Similarly, when asked about how they felt doing the simulated thoracentesis, almost all (98%) strongly agreed that it was an enjoyable and stimulating learning experience. Majority strongly agreed (68%) that they felt capable doing the procedure on a soft cadaver against less than half (38.4%) feeling capable of doing it in the clinical setting. Almost all (97%) strongly agreed that simulated thoracentesis on a soft-embalmed cadaver should be part of the learning competencies of medical students because of the skills they learn by doing the procedure.

Integrating a simulated thoracentesis using a Thiel-preserved cadaver early in the course of a student’s medical education, provided students with a better understanding of the anatomy of the thoracic wall and the anatomical basis of doing this simulation procedure. Though confidence in performing the procedure in a soft cadaver is higher than in a clinical setting, the latter setting may need repeated training to further hone their skills. Practicing thoracentesis on soft-embalmed cadavers significantly enhanced medical students' understanding and enjoyment of the procedure. This innovative approach can be considered by anatomy educators as an integrative learning activity when teaching thoracic cage anatomy. This can also be extended to senior medical students and residents across different specialties.

Contarini’s syndrome refers to the occurrence of bilateral pleural effusion which has different causes for each hemithorax. Based on extensive literature search, this is a rare finding and to date, only two published cases have recorded tuberculous effusion on one side. In this paper, the authors aim to present a case of Contarini’s syndrome, and to give emphasis that such condition with different etiologies exists and should be considered in managing bilateral effusion. This is a case of a 69-year-old female with a 7-week history of dyspnea, 2-pillow orthopnea, fever, and right-sided chest discomfort. Patient sought consultation and was prescribed with Diclofenac and Cefalexin with no relief. Patient was then admitted and intubated due to worsening dyspnea. Patient was managed as COVID-19 confirmed critical with viral myocarditis, CAP-HR, and diabetic ketoacidosis. Initial chest x-ray showed right-sided pleural effusion. Thoracentesis was done and revealed exudative pleural fluid (PF) with WBC of 20,000 with neutrophilic predominance and negative RT-PCR MTB. Cytology revealed acute inflammatory pattern. Klebsiella pneumoniae ESBL was isolated. Antibiotics were shifted to levofloxacin and meropenem. Repeat chest x-ray showed left-sided pleural effusion. Thoracentesis was done and revealed exudative PF with WBC of 1,680 with neutrophilic predominance. No organism was isolated. RT-PCR for MTB was detected. Thus, anti-TB therapy was initiated. However, ETA TB culture showed resistance to isoniazid, rifampicin, and pyrazinamide. Patient was referred to PMDT for MDR-TB treatment. Bilateral effusion has resolved with no recurrence, and with uneventful removal of bilateral chest tubes. Patient was eventually extubated and transferred to the ward. Patient however developed HAP, was re-intubated and eventually expired due to the septic shock from VAP. This case report highlights the importance of weighing risk versus benefit in deciding to perform bilateral thoracentesis when there is a clinical suspicion of an alternate or concurrent diagnosis.

OBJECTIVE: To explore the mechanism for the occurrence and phenotypic characteristics of Turner syndrome based on a prenatally diagnosed case of a mosaic karyotype containing double pseudo-isodicentric X chromosome and a review of relevant literature. METHODS: A fetus diagnosed with increased risk for trisomy 21 at the Provincial Hospital Affiliated to Shandong First Medical University in August 2023 was selected as the study subject. Clinical data of the fetus was collected. Following amniocentesis, chromosomal G-banding karyotype analysis and chromosomal microarray analysis (CMA) were carried out. This study has been approved by the Ethics Committee of the Hospital (Ethics No.: SWYX No. 2022-287). RESULTS: The early-trimester screening suggested a high risk of trisomy 21 (1/19), with free β-hCG of 116 ng/mL (MoM value 2.35), PAPP-A of 0.394 ng/mL (MoM value 0.12), and NT value of 1.3 mm, though no abnormality was found in the fetus at 19 weeks gestation. The karyotype of amniocyte was determined as 46,X,psu idic(X)(p11.21)[55]/45,X[27]/47,X,psu idic(X)(p11.21)×2[5]/46,XX[13]. CMA has yielded a result of arr[GRCh37] Xp22.33p11.21(168552_55585678)×1[0.67],Xp11.21q28(55703291_155233098)×3[0.5]. CONCLUSION Karyotypes of Turner syndrome are complex and diverse, and a rare 46,X,psu idic(X)(p11.21)[55]/45,X[27]/47,X,psu idic(X)(p11.21)×2[5]/46,XX[13] mosaic karyotype with double pseudo-isodicentric X chromosome has been identified. Literature review suggested that this karyotype may lead to phenotypic diversification and a risk of reduced sensitivity to hormone therapy.
Humans ; Turner Syndrome/diagnosis* ; Female ; Pregnancy ; Chromosomes, Human, X/genetics* ; Mosaicism ; Prenatal Diagnosis ; Karyotyping ; Adult ; Karyotype ; Amniocentesis

OBJECTIVE: To report on a case of mosaicism involving trisomy 21, maternal uniparental isodisomy, and normal diploid cells in uncultured amniocytes, and to explore the discrepancies between conventional cytogenetic and molecular cytogenetic techniques during prenatal diagnosis. METHODS: A 30-year-old pregnant woman who presented to Boai Hospital of Zhongshan on June 27, 2023 has undergone amniocentesis at 16 weeks of gestation. The amniotic fluid sample was subjected to quantitative fluorescent PCR (QF-PCR), G-banded karyotype analysis, and chromosomal microarray analysis (CMA). The discrepancies between the results of each method were analyzed. This study was approved by Medical Ethics Committee of Boai Hospital of Zhongshan (Ethics No.: KY-2024-001-01). RESULTS: Non-invasive prenatal testing (NIPT) at 12 weeks indicated a high risk of trisomy 21. QF-PCR of uncultured amniocytes revealed a pattern of trisomy 21. After one week of cell culture, G-banding analysis showed mos 47,XX,+21[1]/46,XX[72]. CMA revealed a homozygous state of chromosome 21 in cultured cells, while uncultured amniocytes showed mosaic trisomy 21 with an estimated proportion of 50%. These findings suggested a complex chromosomal mosaicism in the fetus, which may result from a trisomy rescue event during early embryogenesis, leading to coexistence of three cell lines including trisomy 21, maternal uniparental isodisomy, and normal diploid cells. CONCLUSION In prenatal diagnosis, discrepancies may arise between QF-PCR and conventional chromosomal karyotyping analysis, particularly in complex genetic phenomena such as trisomy rescue and uniparental disomy. For cases where NIPT indicated a high risk of trisomy 21 but G-banding karyotype analysis yielded a normal result, further molecular genetic testing using uncultured cells is recommended.
Humans ; Female ; Mosaicism ; Pregnancy ; Uniparental Disomy/diagnosis* ; Adult ; Down Syndrome/diagnosis* ; Prenatal Diagnosis/methods* ; Diploidy ; Karyotyping ; Amniocentesis

OBJECTIVE: To investigate the characteristics of chromosomal abnormalities in amniotic fluid among pregnant women in Liangshan Prefecture and explore strategies for optimizing prenatal diagnosis. METHODS: A retrospective analysis was conducted on 1 024 amniocentesis samples collected at the Prenatal Diagnosis Center of Liangshan Prefecture Maternal and Child Health Care Hospital between February 2022 and December 2024. Chromosome karyotyping analysis (3 cases had failed culture, 1 021 valid samples) was combined with high-throughput chromosome sequencing analysis (CNV-seq) for the detection. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2023-07). RESULTS: The overall detection rate of chromosomal karyotype abnormalities in the amniotic fluid cells was 4.02% (41/1 021), with numerical abnormalities accounting for 80.49% (33/41) and structural abnormalities for 19.51% (8/41). Numerical abnormalities were primarily trisomy 21 (16/41, 39.02%) and 47,XXY (6/41, 14.63%). Structural abnormalities included translocations (6 cases) and mosaicism (2 cases). CNV-seq detected 22 pathogenic or likely pathogenic copy number variations, whilst the undetection rate for balanced translocations reached 100% (7/7). The combined application of karyotyping and CNV-seq, leveraging complementary strengths, can enhance the overall detection rate. CONCLUSION The distribution characteristics of chromosomal abnormalities in amniotic fluid from pregnant women in Liangshan exhibit regional specificity. A combined testing strategy significantly optimizes prenatal diagnosis efficacy, providing crucial evidence for enhancing the effectiveness of prenatal diagnosis in ethnic minority regions.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis/methods* ; Chromosome Aberrations ; Retrospective Studies ; Adult ; Amniotic Fluid ; Karyotyping ; Amniocentesis ; Chromosome Disorders/genetics* ; China ; High-Throughput Nucleotide Sequencing ; DNA Copy Number Variations/genetics*

: Contarini’s syndrome refers to the occurrence of bilateral pleural effusion which has different causes for each hemithorax. Based on extensive literature search, this is a rare finding and to date, only two published cases have recorded tuberculous effusion on one side. In this paper, the authors aim to present a case of Contarini’s syndrome, and to give emphasis that such condition with different etiologies exists and should be considered in managing bilateral effusion. : This is a case of a 69-year-old female with a 7-week history of dyspnea, 2-pillow orthopnea, fever, and right-sided chest discomfort. Patient sought consultation and was prescribed with Diclofenac and Cefalexin with no relief. Patient was then admitted and intubated due to worsening dyspnea. Patient was managed as COVID-19 confirmed critical with viral myocarditis, CAP-HR, and diabetic ketoacidosis. Initial chest x-ray showed right-sided pleural effusion. Thoracentesis was done and revealed exudative pleural fluid (PF) with WBC of 20,000 with neutrophilic predominance and negative RT-PCR MTB. Cytology revealed acute inflammatory pattern. Klebsiella pneumoniae ESBL was isolated. Antibiotics were shifted to levofloxacin and meropenem. Repeat chest x-ray showed left-sided pleural effusion. Thoracentesis was done and revealed exudative PF with WBC of 1,680 with neutrophilic predominance. No organism was isolated. RT-PCR for MTB was detected. Thus, anti-TB therapy was initiated. However, ETA TB culture showed resistance to isoniazid, rifampicin, and pyrazinamide. Patient was referred to PMDT for MDR-TB treatment. Bilateral effusion has resolved with no recurrence, and with uneventful removal of bilateral chest tubes. Patient was eventually extubated and transferred to the ward. Patient however developed HAP, was re-intubated and eventually expired due to the septic shock from VAP. This case report highlights the importance of weighing risk versus benefit in deciding to perform bilateral thoracentesis when there is a clinical suspicion of an alternate or concurrent diagnosis.
Pleural effusion ; Thoracentesis ; COVID-19

OBJECTIVE: To explore the genetic basis for a fetus with severe heart defect and mosaic trisomy 12, and the correlation between chromosomal abnormalities and clinical manifestations and pregnancy outcome. METHODS: A 33-year-old pregnant woman who presented at Lianyungang Maternal and Child Health Care Hospital on May 17, 2021 due to abnormal fetal heart development revealed by ultrasonography was selected as the study subject. Clinical data of the fetus were collected. Amniotic fluid sample of the pregnant women was collected and subjected to G-banded chromosomal karyotyping and chromosomal microarray analysis (CMA). The CNKI, WanFang and PubMed databases were searched with key words, with the retrieval period set as from June 1, 1992 to June 1, 2022. RESULTS: For the 33-year-old pregnant woman, ultrasonography at 22+6 gestational weeks had revealed abnormal fetal heart development and ectopic pulmonary vein drainage. G-banded karyotyping showed that the fetus has a karyotype of mos 47,XX,+12[1]/46,XX[73], with the mosaicism rate being 1.35%. CMA results suggested that about 18% of fetal chromosome 12 was trisomic. A newborn was delivered at 39 weeks of gestation. Follow-up confirmed severe congenital heart disease, small head circumference, low-set ears and auricular deformity. The infant had died 3 months later. The database search has retrieved 9 reports. Literature review suggested that the liveborn infants with mosaic trisomy 12 had diverse clinical manifestations depending on the affected organs, which had included congenital heart disease and/or other organs and facial dysmorphisms, resulting in adverse pregnancy outcomes. CONCLUSION Trisomy 12 mosaicism is an important factor for severe heart defects. The results of ultrasound examination have important value for evaluating the prognosis of the affected fetuses.
Infant, Newborn ; Child ; Pregnancy ; Female ; Humans ; Adult ; Trisomy/genetics* ; Amniocentesis/methods* ; Chromosome Disorders ; Mosaicism ; Fetus ; Heart Defects, Congenital/genetics*

OBJECTIVE: To explore the genetic etiology of 5 cases of monochorionic-diamniotic (MCDA) with genetic discordance. METHODS: 148 cases of MCDA twins who were diagnosed by amniocentesis at the Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region from January 2016 to June 2020 were selected as the study subjects. Relevant clinical data of the pregnant women were collected, and amniotic fluid samples of the twins were collected separately. Chromosomal karyotyping analysis and single nucleotide polymorphism array (SNP array) assay were carried out. RESULTS: The results of chromosomal karyotyping analysis showed that 5 of the MCDA twins had inconsistent chromosome karyotypes, with an incidence of 3.4% (5/148). SNP array assay showed that 3 fetuses were mosaics. CONCLUSION Genetic discordance occurs among MCDA twins, and prenatal counseling for such cases should be given by doctors with experience in medical genetics and fetal medicine, and personalized clinical management should be recommended.
Child ; Pregnancy ; Female ; Humans ; China ; Twins/genetics* ; Amniocentesis ; Karyotyping ; Fetus ; Twins, Monozygotic/genetics* ; Ultrasonography, Prenatal ; Retrospective Studies

OBJECTIVE: To explore the cause for a twin pregnancy with false negative result for 22q11.2 deletion syndrome by expanded non-invasive prenatal testing (NIPT-plus). METHODS: A pregnant woman with twin pregnancy through in-vitro fertilization and negative result of NIPT-plus was selected as the study subject. Amniocentesis was conducted after ultrasonic finding of fetal abnormalities. In addition to conventional G-banded karyotyping, copy number variation sequencing (CNV-Seq) was used to detect chromosomal microdeletion and microduplication. Clinical data of the woman were analyzed to explore the reasons underlying the false negative result. RESULTS: NIPT-plus has yielded a negative result with 11.77 Mb unique reads and 3.05% fetal fraction. Both fetuses had a normal karyotype (46,XY and 46,XX). CNV-seq indicated that one of the fetuses was normal, whilst the other was diagnosed with a 2.58 Mb deletion in the 22q11.2 region. CONCLUSION The false negative result may be attributed to the combined influence of low fetal fraction, high BMI, twin pregnancy through IVF and a relatively small deletion fragment. Ultrasonography exam following a low-risk result of NIPT-plus should not be neglected.
Pregnancy ; Female ; Humans ; Prenatal Diagnosis ; Pregnancy, Twin/genetics* ; DiGeorge Syndrome/genetics* ; DNA Copy Number Variations ; Amniocentesis