المؤلفون: Provenzano, Aldesia, La Barbera, Andrea, Lai, Francesco, Perra, Andrea, Farina, Antonio, Cariati, Ettore, Zuffardi, Orsetta, Giglio, Sabrina

المساهمون: Provenzano, Aldesia, La Barbera, Andrea, Lai, Francesco, Perra, Andrea, Farina, Antonio, Cariati, Ettore, Zuffardi, Orsetta, Giglio, Sabrina

مصطلحات موضوعية: X-linked disease, non-invasive whole exome sequencing, fetal cell-free DNA, escapee gene, X-inactivation, Mullegama–Klein–Martinez syndrome (MKMS), STAG2 gene

الوصف: Background: We report on a 20-week-old female fetus with a diaphragmatic hernia and other malformations, all of which appeared after the first-trimester ultrasound. Methods and Results: Whole trio exome sequencing (WES) on cell-free fetal DNA (cff-DNA) revealed a de novo frameshift variant of the X-linked STAG2 gene. Loss-of-function (LoF) STAG2 variants cause either holoprosencephaly (HPE) or Mullegama–Klein–Martinez syndrome (MKMS), are de novo, and only affect females, indicating male lethality. In contrast, missense mutations associate with milder forms of MKMS and follow the classic X-linked recessive inheritance transmitted from healthy mothers to male offspring. STAG2 has been reported to escape X-inactivation, suggesting that disease onset in LoF females is dependent on inadequate dosing for at least some of the transcripts, as is the case with a part of the autosomal dominant diseases. Missense STAG2 variants produce a quantity of transcripts, which, while resulting in a different protein, leads to disease only in hemizygous males. Similar inheritance patterns are described for other escapee genes. Conclusions: This study confirms the advantage of WES on cff-DNA and emphasizes the role of the type of the variant in X-linked disorders.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35887945; info:eu-repo/semantics/altIdentifier/wos/WOS:000831365000001; volume:11; issue:14; numberofpages:10; journal:JOURNAL OF CLINICAL MEDICINE; http://hdl.handle.net/11584/342080Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136356779; https://www.mdpi.com/2077-0383/11/14/4182Test

الإتاحة: https://doi.org/10.3390/jcm11144182Test
http://hdl.handle.net/11584/342080Test
https://www.mdpi.com/2077-0383/11/14/4182Test

المؤلفون: Aldesia Provenzano, Andrea La Barbera, Francesco Lai, Andrea Perra, Antonio Farina, Ettore Cariati, Orsetta Zuffardi, Sabrina Giglio

المصدر: Journal of Clinical Medicine; Volume 11; Issue 14; Pages: 4182

مصطلحات موضوعية: X-linked diseases, non-invasive whole exome sequencing, fetal cell-free DNA, escapee genes, X-inactivation

الوصف: Background: We report on a 20-week-old female fetus with a diaphragmatic hernia and other malformations, all of which appeared after the first-trimester ultrasound. Methods and Results: Whole trio exome sequencing (WES) on cell-free fetal DNA (cff-DNA) revealed a de novo frameshift variant of the X-linked STAG2 gene. Loss-of-function (LoF) STAG2 variants cause either holoprosencephaly (HPE) or Mullegama–Klein–Martinez syndrome (MKMS), are de novo, and only affect females, indicating male lethality. In contrast, missense mutations associate with milder forms of MKMS and follow the classic X-linked recessive inheritance transmitted from healthy mothers to male offspring. STAG2 has been reported to escape X-inactivation, suggesting that disease onset in LoF females is dependent on inadequate dosing for at least some of the transcripts, as is the case with a part of the autosomal dominant diseases. Missense STAG2 variants produce a quantity of transcripts, which, while resulting in a different protein, leads to disease only in hemizygous males. Similar inheritance patterns are described for other escapee genes. Conclusions: This study confirms the advantage of WES on cff-DNA and emphasizes the role of the type of the variant in X-linked disorders.

وصف الملف: application/pdf

العلاقة: Obstetrics & Gynecology; https://dx.doi.org/10.3390/jcm11144182Test

الإتاحة: https://doi.org/10.3390/jcm11144182Test

المؤلفون: Provenzano, Aldesia, Farina, Antonio, Seidenari, Anna, Azzaroli, Francesco, Serra, Carla, Della Gatta, Anna, Zuffardi, Orsetta, Giglio, Sabrina Rita

المساهمون: Provenzano, Aldesia, Farina, Antonio, Seidenari, Anna, Azzaroli, Francesco, Serra, Carla, Della Gatta, Anna, Zuffardi, Orsetta, Giglio, Sabrina Rita

مصطلحات موضوعية: Exome sequencing, Fetal cell free DNA, Liver disorder, Non-invasive WES, WES in fetal cell free DNA

الوصف: Liver disease in pregnancy may present as an acute condition related to the gestational period, characterized by pruritus, jaundice, and abnormal liver function. The disease may be misdiagnosed with other liver diseases, some of which may have consequences for fetal health. It is therefore advisable to implement rapid diagnostic strategies to provide information for the management of pregnancy in these conditions. We report the case of a healthy woman with a twin pregnancy from homologous in vitro fertilization (IVF), who in the third trimester presented jaundice and malaise. Biochemical investigations and liver hyperechogenicity raised the suspicion of acute fatty liver disease of pregnancy (AFLP). Non-invasive prenatal whole-exome sequencing (WES) in the trio identified the Phe305Ile heterozygous variant in the ATP8B1 gene. Considering the twin pregnancy, the percentage of the variant versus the wild allele was of 31%, suggesting heterozygosity present in the mother alone. This analysis showed that the mother was affected by benign recurrent intrahepatic cholestasis of pregnancy (ICP1: # 147480) and indicated the opportunity to anticipate childbirth to avoid worsening of the mother's health. WES after the birth of the twins confirmed the molecular data.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34679599; info:eu-repo/semantics/altIdentifier/wos/WOS:000715526700001; volume:11; issue:10; firstpage:1904; journal:DIAGNOSTICS; http://hdl.handle.net/11584/320738Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85117780882

الإتاحة: https://doi.org/10.3390/diagnostics11101904Test
http://hdl.handle.net/11584/320738Test

المؤلفون: Aldesia Provenzano, Antonio Farina, Anna Seidenari, Francesco Azzaroli, Carla Serra, Anna Della Gatta, Orsetta Zuffardi, Sabrina Rita Giglio

المصدر: Diagnostics; Volume 11; Issue 10; Pages: 1904

مصطلحات موضوعية: fetal cell free DNA, exome sequencing, non-invasive WES, liver disorder

الوصف: Liver disease in pregnancy may present as an acute condition related to the gestational period, characterized by pruritus, jaundice, and abnormal liver function. The disease may be misdiagnosed with other liver diseases, some of which may have consequences for fetal health. It is therefore advisable to implement rapid diagnostic strategies to provide information for the management of pregnancy in these conditions. We report the case of a healthy woman with a twin pregnancy from homologous in vitro fertilization (IVF), who in the third trimester presented jaundice and malaise. Biochemical investigations and liver hyperechogenicity raised the suspicion of acute fatty liver disease of pregnancy (AFLP). Non-invasive prenatal whole-exome sequencing (WES) in the trio identified the Phe305Ile heterozygous variant in the ATP8B1 gene. Considering the twin pregnancy, the percentage of the variant versus the wild allele was of 31%, suggesting heterozygosity present in the mother alone. This analysis showed that the mother was affected by benign recurrent intrahepatic cholestasis of pregnancy (ICP1: # 147480) and indicated the opportunity to anticipate childbirth to avoid worsening of the mother’s health. WES after the birth of the twins confirmed the molecular data.

وصف الملف: application/pdf

العلاقة: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics11101904Test

الإتاحة: https://doi.org/10.3390/diagnostics11101904Test

المؤلفون: O. V. Radkov, L. N. Korichkina, O. V. Sizova, Y. V. Volf, E. K. Paramonova

المصدر: Acta Biomedica Scientifica, Vol 3, Iss 2, Pp 20-24 (2018)

مصطلحات موضوعية: preeclampsia, fetal cell-free dna, total cell-free dna, Science

الوصف: Preeclampsia (PE) is a life-threatening complication of pregnancy associated with a high rate of maternal and perinatal morbidity and/or mortality. This study was aimed at evaluation of total and fetal cell-free DNA (cftDNA and cffDNA) in maternal plasma to assess whether this could represent a reliable predictive marker of early, late PE and whether intrauterine growth restriction (IUGR) as seen in PE is associated with levels of cell-free DNA. Diagnostic criteria for fetal growth retardation are calculated from the results of blood test results obtained in 26-36 weeks of gestation. We performed a PCR assay to compare the cftDNA and cffDNA concentration in maternal plasma among 3 groups of pregnant women. These included 119 women with overt PE (47 - early PE, 72 - late PE), 24 women at risk for the disease who developed PE (8 -early PE, 16 - late PE), and 30 controls. CffDNA quantification is a promising marker for early preeclampsia prediction. Cut-off value of 0,87 ng/ml for cffDNA (87.5 % sensitivity and 66,67 % specificity). Since the increase in cftDNA and cffDNA seems to be related to the presence IUGR in pregnancies which are complicated with early PE. Thus, it suggests that cftDNA and cffDNA could represent a potential biomarker of IUGR among individuals with early PE.

وصف الملف: electronic resource

العلاقة: https://www.actabiomedica.ru/jour/article/view/553Test; https://doaj.org/toc/2541-9420Test; https://doaj.org/toc/2587-9596Test

الوصول الحر: https://doaj.org/article/5a1b9dc062e24b2d9a6afb14cd15383cTest

المؤلفون: Simeon Eche, Irene Mackraj, Jagidesa Moodley

المصدر: Hypertension in Pregnancy, Vol 36, Iss 4, Pp 295-301 (2017)

مصطلحات موضوعية: fetal cell-free dna, total cell-free dna, soluble human leucocyte antigen, pre-eclampsia, gestational hypertension, Gynecology and obstetrics, RG1-991

الوصف: Objective: Quantification of circulating fetal and total cell-free DNA (cfDNA) and soluble human leucocyte antigen (HLAG) in gestational hypertension and pre-eclampsia. Methods: Serum cfDNA were quantified in controls, pre-eclamptics, and gestational hypertensive patients using real-time qPCR. Soluble HLAG was measured by enzyme-linked immune-sorbent assay. Results: Serum fetal and total cfDNA levels were higher in pre-eclampsia compared with the controls and gestational hypertensives (p

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1064-1955Test; https://doaj.org/toc/1525-6065Test

الوصول الحر: https://doaj.org/article/51750c798f494071bffba9212ec718f3Test

المؤلفون: Sabrina Giglio, Anna Seidenari, Carla Serra, Aldesia Provenzano, Antonio Farina, Anna Nunzia Della Gatta, Orsetta Zuffardi, Francesco Azzaroli

المساهمون: Provenzano A., Farina A., Seidenari A., Azzaroli F., Serra C., Gatta A.D., Zuffardi O., Giglio S.R.

المصدر: Diagnostics, Vol 11, Iss 1904, p 1904 (2021)
Diagnostics

مصطلحات موضوعية: Exome sequencing, Medicine (General), medicine.medical_specialty, Pregnancy, In vitro fertilisation, Obstetrics, business.industry, medicine.medical_treatment, Clinical Biochemistry, Benign Recurrent Intrahepatic Cholestasis, Case Report, Disease, Jaundice, medicine.disease, Liver disorder, Liver disease, Fetal cell free DNA, R5-920, medicine, Non-invasive WES, medicine.symptom, business, Twin Pregnancy

الوصف: Liver disease in pregnancy may present as an acute condition related to the gestational period, characterized by pruritus, jaundice, and abnormal liver function. The disease may be misdiagnosed with other liver diseases, some of which may have consequences for fetal health. It is therefore advisable to implement rapid diagnostic strategies to provide information for the management of pregnancy in these conditions. We report the case of a healthy woman with a twin pregnancy from homologous in vitro fertilization (IVF), who in the third trimester presented jaundice and malaise. Biochemical investigations and liver hyperechogenicity raised the suspicion of acute fatty liver disease of pregnancy (AFLP). Non-invasive prenatal whole-exome sequencing (WES) in the trio identified the Phe305Ile heterozygous variant in the ATP8B1 gene. Considering the twin pregnancy, the percentage of the variant versus the wild allele was of 31%, suggesting heterozygosity present in the mother alone. This analysis showed that the mother was affected by benign recurrent intrahepatic cholestasis of pregnancy (ICP1: # 147480) and indicated the opportunity to anticipate childbirth to avoid worsening of the mother’s health. WES after the birth of the twins confirmed the molecular data.

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29d7259bc57bd91c2708364693522ea8Test
http://hdl.handle.net/11585/867112Test

المؤلفون: Aldesia Provenzano, Viviana Palazzo, Paolo Reho, Angelica Pagliazzi, Annabella Marozza, Antonio Farina, Orsetta Zuffardi, Sabrina Giglio

المساهمون: Provenzano, Aldesia, Palazzo, Viviana, Reho, Paolo, Pagliazzi, Angelica, Marozza, Annabella, Farina, Antonio, Zuffardi, Orsetta, Giglio, SABRINA RITA

مصطلحات موضوعية: Prenatal exome sequencing, Fetal cell free DNA, Non invasive prenatal diagnosi, Fetal anomalie, Aneuploidie, Gene sequence variants

الوصف: NIPT is mainly limited to the screening of aneuploidies. The added value of WES, after an invasive procedure, in malformed fetuses that tested negative by chromosomal microarray, claims for the application of NIPT to the screening of gene sequence variants which are unpredictable with respect to family history and the type of fetal anomalies. Through a screening strategy, WES on cff-DNA can provide clinically relevant information in cases of fetal malformations characterized by high genetic heterogeneity.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32277492; info:eu-repo/semantics/altIdentifier/wos/WOS:000527080300001; volume:40; issue:7; firstpage:905; lastpage:908; numberofpages:4; journal:PRENATAL DIAGNOSIS; http://hdl.handle.net/11584/298028Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85083668001

الإتاحة: https://doi.org/10.1002/pd.5700Test
http://hdl.handle.net/11584/298028Test

المؤلفون: 湯硯安, 孫孝芳

المساهمون: 分子醫學研究所

مصطلحات موضوعية: 非侵入式產前分子檢測；帶因者篩檢；胎兒游離核酸；次世代定序；全外顯子組定序；母胎精準醫學, non-invasive prenatal test (NIPT)； carrier genetic screening； fetal cell-free DNA (cfDNA)； next generation sequencing (NGS)； whole exome sequencing (WES)； maternal-fetal precision medicine

الوصف: 計畫編號:MOST108-2321-B006-020 ; 執行機構:國立成功大學分子醫學研究所 ; 研究期間:2019-08~2020-07

وصف الملف: 116 bytes; text/html

العلاقة: http://ir.lib.ncku.edu.tw/handle/987654321/203281Test; http://ir.lib.ncku.edu.tw/bitstream/987654321/203281/-1/1082321B006020Test(第1年).pdf; http://ir.lib.ncku.edu.tw/bitstream/987654321/203281/1/index.htmlTest

الإتاحة: http://ir.lib.ncku.edu.tw/handle/987654321/203281Test
http://ir.lib.ncku.edu.tw/bitstream/987654321/203281/-1/1082321B006020Test(第1年).pdf
http://ir.lib.ncku.edu.tw/bitstream/987654321/203281/1/index.htmlTest

المؤلفون: Capoluongo E, Plebani Mario

المساهمون: Capoluongo, E, Plebani, Mario

مصطلحات موضوعية: prenatal diagnosi, guideline, circulating fetal cell-free DNA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000334050800010; volume:52; issue:5; firstpage:609; lastpage:611; numberofpages:3; journal:CLINICAL CHEMISTRY AND LABORATORY MEDICINE; http://hdl.handle.net/11588/777943Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84899029461

الإتاحة: https://doi.org/10.1515/cclm-2014-0066Test
http://hdl.handle.net/11588/777943Test