دورية أكاديمية
Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome
| العنوان: | Noninvasive Prenatal Diagnosis in a Family at Risk for Fraser Syndrome |
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| 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 |
| سنة النشر: | 2020 |
| المجموعة: | Università degli Studi di Cagliari: UNICA IRIS |
| 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| 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 |
| DOI: | 10.1002/pd.5700 |
| الإتاحة: | https://doi.org/10.1002/pd.5700Test http://hdl.handle.net/11584/298028Test |
| حقوق: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.754AFE83 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/pd.5700 |
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