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1. |
Record Nr. |
UNINA9910583398303321 |
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Titolo |
Noninvasive prenatal testing (NIPT) [[electronic resource] ] : applied genomics in prenatal screening and diagnosis / / edited by Lieve Page-Christiaens, Hanns-Georg Klein |
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Pubbl/distr/stampa |
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London : , : Academic Press, , [2018] |
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©2018 |
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ISBN |
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Descrizione fisica |
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1 online resource (xxvii, 377 pages) : illustrations |
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Disciplina |
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Soggetti |
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Prenatal diagnosis |
Diagnosis, Noninvasive |
Genetic Testing |
Prenatal Diagnosis |
DNA - blood |
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Lingua di pubblicazione |
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Formato |
Materiale a stampa |
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Livello bibliografico |
Monografia |
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Nota di bibliografia |
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Includes bibliographical references and index. |
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Nota di contenuto |
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Section 1: Cell-freeDNA (CfDNA): overview and technology. Fetal DNA in maternal plasma: an amazing two decades -- Understanding the basics of next generation sequencing in the context of cell-free DNA based NIPT -- The technology and bioinformatics of cell-free DNA based NIPT -- Section 2: CfDNA in clinical practice. Prenatal screening for common aneuploidies before and after the introduction of cell-free DNA based NIPT -- Why cell-free DNA based NIPT for fetal chromosome anomalies is not diagnostic -- The role of cell-free DNA based NIPT in twin pregnancy -- Genomewide testing for autosomal trisomies and copy number variations -- Non-invasive fetal blood group typing -- Noninvasive prenatal diagnosis (NIPD) of monogenic disorders -- Maternal constitutional and acquired copy number variations (CNVs) -- Section 3: Clinical integration. Best practices for integrating cell-free DNA based NIPT into clinical practice -- Quality assurance and standardization of cell-free DNA based NIPT laboratory procedures -- Decisional support for expectant parents -- Cell-free DNA based NIPT and society -- Ethics of cell-free DNA based NIPT for |
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sex chromosome aneuploidies and sex determination -- Cost-effectiveness of cell-free DNA based NIPT: summary of evidence and challenges -- Section 4: The future. Exome sequencing in the evaluation of the fetus with structural anomalies -- Cell-based NIPT: a promising path for prenatal diagnosis -- Maternal circulating nucleic acids as a marker of placental health -- Prenatal treatment of genetic diseases in the unborn |
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Sommario/riassunto |
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"Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation"--Publisher's description. |
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2. |
Record Nr. |
UNINA9910779652303321 |
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Autore |
Cibulka Nancy J |
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Titolo |
Guidelines for nurse practitioners in ambulatory obstetric settings [[electronic resource] /] / Nancy J. Cibulka, Mary Lee Barron |
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Pubbl/distr/stampa |
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New York, NY, : Springer, c2013 |
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ISBN |
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Descrizione fisica |
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1 online resource (361 p.) |
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Altri autori (Persone) |
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Disciplina |
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Soggetti |
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Pregnancy - Complications |
Ambulatory medical care |
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Lingua di pubblicazione |
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Formato |
Materiale a stampa |
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Livello bibliografico |
Monografia |
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Note generali |
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Description based upon print version of record. |
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Nota di bibliografia |
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Includes bibliographical references and index. |
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Nota di contenuto |
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Cover; Title; Copyright; Contents; Contributing Author; Foreword; Preface; Acknowledgments; Reviewers; Part I: Guidelines for Preparation for Pregnancy; Chapter 1: Preconception Counseling and Care; A. Background; B. Recommendations to Improve Preconception Health; C. History; D. Physical Examination; E. Laboratory and Diagnostic Testing; |
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F. Education; G. Fertility Health Promotion; H. Referral/Consultation; I. Follow-Up; Bibliography; Chapter 2: Screening for Genetic Disorders and Genetic Counseling-Preconception and Early Pregnancy; I. Genetics and Genetic Testing |
II. Initial History for Genetic Risk FactorsIII. Prenatal Genetic Screening Tests; IV. Prenatal Genetic Carrier Screening; V. Teratogen Recognition; VI. Genetic Counseling and Indications for Referral; Bibliography; Part II: Guidelines for Routine Prenatal and Postpartum Care; Chapter 3: The First Prenatal Visit; I. General Guidelines; II. Screening Tools; III. Physical Examination; IV. Diagnostic and Laboratory Examination for the First Prenatal Visit; V. Common Discomforts in the First Trimester; VI. First Trimester Education/Anticipatory Guidance; Bibliography |
Chapter 4: Ongoing Prenatal Care A. Interim History; B. Physical Examination; C. Laboratory; D. Ultrasound Examination (Second and Third Trimester); E. Pregnancy Management; F. Modifiable Risk Factors; G. Pregnancy Discomforts; H. Second Trimester Education; I. Third Trimester Education; Bibliography; Chapter 5: Medication Use in Pregnancy; A. Food and Drug Administration Rating System; B. Risk Versus Benefit and Other Therapies; C. Proactive Guidance; Bibliography; Chapter 6: Antenatal Fetal Surveillance; A. Indications for Antenatal Fetal Surveillance; B. General Recommendations |
C. Nonstress Test D. Amniotic Fluid Index; E. Biophysical Profile; F. Transabdominal Ultrasound for Growth; G. Doppler Velocimetry; H. Fetal Lung Maturity Testing; I. Surveillance Methods of the Future; Bibliography; Chapter 7: Postpartum Care in the Ambulatory Setting; I. Definitions; II. Physical Examination at the 4- to 6-Week Postpartum Visit; III. Management; IV. Breastfeeding; Bibliography; Chapter 8: Postpartum Complications; I. Postpartum Hemorrhage; II. Postpartum Endometritis; III. Surgical Site Infections of Abdomen and Perineum; IV. Postpartum Thromboembolism |
V. Lactational Mastitis and Breast Abscess VI. Candida Infection of the Breasts; VII. Postpartum Depression (PPD); Bibliography; Part III: Guidelines for Management of Common Problems of Pregnancy; Chapter 9: Oral Health and Oral Health Problems in Pregnancy; A. Risk Factors for Periodontal Problems; B. History; C. Physical Examination; D. Laboratory and Diagnostic Studies; E. Differential Diagnoses; F. Management of Dental Problems in Pregnancy; G. Dental Procedures During Pregnancy; H. Complications of Dental Abscess and/or Periodontitis; I. Consultation/Referral; J. Follow-Up; Bibliography |
Chapter 10: Iron Deficiency Anemia in Pregnancy |
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Sommario/riassunto |
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""The authors have crafted a very user-friendly set of guidelines, identifying the steps in assessment of patients for risks, outlining the objectives for care from preconception through postpartum, and addressing care for pregnant HIV positive women [the book] includes avenues to electronic resources to assist them in accessing the newest information in ever-evolving and changing practice environments."". -Joellen W. Hawkins , RNC, PhD, FAAN. Professor Emeritus, Boston College Connell School of Nursing. Writer in Residence, Simmons College, School of Nursing and Health Sciences. This is the o |
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