A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature

Popescu, Roxana; Grămescu, Mihaela; Caba, Lavinia; Pânzaru, Monica; Butnariu, Lăcrămioara Ionela; Braha, Elena; Popa, Setalia; Rusu, Cristina; Cardos, Georgeta; Zeleniuc, Monica; Martiniuc, Violeta; Gug, Cristina; Păduraru, Luminiţa; Stamatin, Maria; Diaconu, Carmen C.; Gorduza, Eusebiu Vlad

doi:10.3390/genes12121957

Cited by 3 publications

(4 citation statements)

References 77 publications

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“…We chose these NIPT tests for the broad possibility of testing for CNVs, primarily to additionally exclude this risk, which is small but still not negligible, especially as we have been part of a research collective with the purpose of diagnosis and publication of several articles with case presentations and reviews of people affected by these conditions [28][29][30][31].…”

Section: Discussionmentioning

confidence: 99%

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Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing

Gug,

Rațiu,

Andreescu

et al. 2024

JPM

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This study represents our second investigation into NIPT, involving a more extensive patient cohort with a specific emphasis on the high-risk group. The high-risk group was subsequently divided into two further groups to compare confirmed cases versus unconfirmed via direct methods. The methodology encompassed the analysis of 1400 consecutive cases from a single genetic center in western Romania, where NIPT was used to assess the risk of specific fetal chromosomal abnormalities. All high-risk cases underwent validation through direct analysis of fetal cells obtained via invasive methods, including chorionic villus sampling and amniocentesis. The confirmation process utilized QF-PCR, karyotyping, and SNP-Array methods customized to each case. Results: A high risk of aneuploidy at NIPT was identified in 36 out of 1400 (2.57%) cases and confirmed in 28 cases. The study also detected an increased risk for copy number variations (CNVs) in 1% of cases, confirmed in two instances involving one large microdeletion and one large microduplication. Trisomy 21 was the exclusive anomaly where NIPT confirmed all cases with identified risk. High-risk NIPT results which were not validated by invasive methods, were classified as false positives; parents in these cases determined to continue the pregnancy. In conclusion, NIPT can serve as a screening method for all pregnancies; however, in high-risk cases, an invasive confirmation test is strongly recommended.

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Section: Discussionmentioning

confidence: 99%

“…However, it is noteworthy that many individuals with this condition do not manifest any evident physical or intellectual disabilities [38]. Genetic counseling is difficult in these situations, where few cases are reported, often with varying results [30,31,39].…”

Section: Discussionmentioning

confidence: 99%

Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing

Gug,

Rațiu,

Andreescu

et al. 2024

JPM

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“…The average positive predictive value (PPV) for sex chromosome anomalies screening was estimated at 40.56% [5,11]. NIPT has several limitations regarding the detection of more rare fetal chromosomal abnormalities, other than aneuploidy for 3 (13,18,21) or 6 pairs (13,18,21,9,16,22) of autosomal chromosomes, or the identification of cases with mosaicism.…”

Section: Introductionmentioning

confidence: 99%

“…Segmental duplications or deletions, also called copy number variations (CNVs), are extensively distributed in the human genome and many are associated with diseases [12][13][14][15][16][17]. The incidence of microdeletions/microduplications is independent of maternal age [18].…”

Section: Introductionmentioning

confidence: 99%

Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population

et al. 2022

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Background and Objectives: Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, 13, sex chromosomes aneuploidies and several microdeletions. This study aimed to assess the accuracy of cell free DNA testing based on low-level whole-genome sequencing to screen for these chromosomal abnormalities and to evaluate the clinical performance of NIPT. Materials and Methods: 380 consecutive cases from a single genetic center, from Western Romania were included in this retrospective study. Cell-free nucleic acid extraction from maternal blood, DNA sequencing and analysis of sequenced regions were performed by BGI Hong Kong and Invitae USA to determine the risk of specific fetal chromosomal abnormalities. In high-risk cases the results were checked by direct analysis of fetal cells obtained by invasive methods: 6 chorionic villus sampling and 10 amniocenteses followed by combinations of QF-PCR, karyotyping and aCGH. Results: NIPT results indicated low risk in 95.76% of cases and high risk in 4.23%. Seven aneuploidies and one microdeletion were confirmed, the other results were found to be a false-positive. A gestational age of up to 22 weeks had no influence on fetal fraction. There were no significant differences in fetal fraction across the high and low risk groups. Conclusions: This is the first study in Romania to report the NIPT results. The confirmation rate was higher for autosomal aneuploidies compared to sex chromosome aneuploidies and microdeletions. All cases at risk for trisomy 21 were confirmed. Only one large fetal microdeletion detected by NIPT has been confirmed. False positive NIPT results, not confirmed by invasive methods, led to the decision to continue the pregnancy. The main limitation of the study is the small number of patients included. NIPT can be used as a screening method for all pregnancies, but in high-risk cases, an invasive confirmation test was performed.

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Prenatal diagnosis and counseling of fetal chromosomes with structural abnormalities

Lv,

Liu,

Sun

et al. 2024

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Objectives To explore the pregnancy, fertility risk and genetic suggestions of pregnant women with complex structural abnormalities of fetal chromosomes. Study Design Amniotic fluid puncture, chromosome culture of amniotic fluid and chromosome G banding analysis were performed on 9867 pregnant women who came to our hospital for prenatal diagnosis from 2012 to 2023, CMA was performed in 8 pregnant women with complex structural abnormalities in amniotic fluid. Results Chromosome G banding analysis showed that the karyotypes of all 8 cases were structural abnormalities, with deletion and duplication, combined with CMA results, comprehensive analysis showed that case 1 was derived chromosome 3 with deletionof 3p13p14. In case 2, 7q11.23q21.3 was inserted at 4q31.3. Case 3 was derived chromosom 16 with deletion of 16p13.3 and duplication of 18q12.3q23. Case 4 was derived chromosome 9 with duplication of 20p12.1p13. Case 5 was derived chromosome 21 with duplication of 2p22.2p25.3 and 21q11.2q21.3. Case 6 was derived chromosome21 with duplication of 18q12.3q23; Case 7 was derived chromosome 4 with duplication of 4q26q35.2(116376542_188138856) and deletion of 4q35.2(188155531_190957460), and case 8 was derived chromosome X with duplication of Xp22.31p11.1(9041083_58455353) and deletion of Xp22.33p22.31(168552_9040480). Conclusion The combination of G-banding analysis technology and CMA can not only detect the complex structural abnormalities of the amniotic fluid chromosomes, but also determine whether the missing or repeated regions contain important genetic genes. Then, by referring to the results of the parents' chromosomes or the results of ultrasound examination, the abnormalities of fetal chromosomes are summarized and analyzed, so as to obtain clinical consultation opinions.

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A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature

Cited by 3 publications

References 77 publications

Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing

Approach and Management of Pregnancies with Risk Identified by Non-Invasive Prenatal Testing

Genetic Counseling and Management: The First Study to Report NIPT Findings in a Romanian Population

Prenatal diagnosis and counseling of fetal chromosomes with structural abnormalities

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