Methods of Modern Cytogenetics

Jan 12, 2019 by in OBSTETRICS Comments Off on Methods of Modern Cytogenetics

INTRODUCTION Print Section Listen Case 1: Ms. Sanfilippo is a 25-year-old gravida 5 para 3104 whose first-trimester screen gave her a 1:1200 risk of Down syndrome and <1:5000 risk of…

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Disorders of Sexual Differentiation

Jan 12, 2019 by in OBSTETRICS Comments Off on Disorders of Sexual Differentiation

INTRODUCTION Print Section Listen Case 1: Ms. Omotoya Bamidele is a 28-year-old medical student of Yoruban origin who presented to her OB/GYN with difficulty in vaginal intercourse. She describes painful…

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Molecular Diagnostic Testing

Jan 12, 2019 by in OBSTETRICS Comments Off on Molecular Diagnostic Testing

INTRODUCTION Print Section Listen The goal of molecular diagnostic testing is to provide definitive diagnoses for suspected or unknown genetic conditions. A precise diagnosis is important for determining what caused…

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Genetics of Infertility and Pregnancy Loss

Jan 12, 2019 by in OBSTETRICS Comments Off on Genetics of Infertility and Pregnancy Loss

INTRODUCTION Print Section Listen Case 1: John is a 35-year-old executive of a manufacturing company who presented with infertility. He and his wife have had unprotected intercourse over the past…

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Principles of Genetic Counseling

Jan 12, 2019 by in OBSTETRICS Comments Off on Principles of Genetic Counseling

INTRODUCTION Print Section Listen Although there have been many attempts to define what it means to provide genetic counseling, the provision of genetic counseling is a process that needs to…

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Hereditary Cancer Syndromes

Jan 12, 2019 by in OBSTETRICS Comments Off on Hereditary Cancer Syndromes

INTRODUCTION Print Section Listen Case 1: A 25-year-old patient presents to you for an annual examination.Evaluation of her family history reveals that her paternal grandmother and a paternal aunt died…

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Screening for Genetic Disorders in Pregnancy

Jan 12, 2019 by in OBSTETRICS Comments Off on Screening for Genetic Disorders in Pregnancy

INTRODUCTION Print Section Listen Case 1:A 25-year-old Caucasian (Northern European ancestry) G1 presents for her first prenatal visit at 10 weeks’ gestation.Her medical and family history is negative for any…

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Methods of Prenatal Diagnosis

Jan 12, 2019 by in OBSTETRICS Comments Off on Methods of Prenatal Diagnosis

INTRODUCTION Print Section Listen Case 1: A 35-year-old, gravida 1, presents for prenatal care at 8 weeks’ gestation. How do you counsel her regarding her risks for genetic conditions in…

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