Mendelian Inheritance

Jul 31, 2016 by in OBSTETRICS Comments Off on Mendelian Inheritance

Introduction to Mendelian Inheritance Disorders with Mendelian inheritance, which are also known as single gene disorders, are due to major effects of one or both members of a pair of…

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Cytogenetic Abnormalities

Jul 31, 2016 by in OBSTETRICS Comments Off on Cytogenetic Abnormalities

The large majority of Robertsonian translocations are between non-homologous acrocentric chromosomes, and the 13;14 Robertsonian translocation is the most common. The short arm of an acrocentric chromosome is comprised of…

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Non-Mendelian Inheritance

Jul 31, 2016 by in OBSTETRICS Comments Off on Non-Mendelian Inheritance

Introduction to Non-Mendelian Inheritance Non-Mendelian disorders have patterns of inheritance which do not conform to Mendel’s Law of Segregation where each ovum or sperm receives only one copy of a…

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Common Issues in Prenatal Diagnosis

Jul 31, 2016 by in OBSTETRICS Comments Off on Common Issues in Prenatal Diagnosis

Introduction to Common Issues in Prenatal Diagnosis The topics in this chapter bring together common issues in genetic counseling and the delivery of prenatal diagnosis services such as the interpretation…

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Abnormal Ultrasound Findings

Jul 31, 2016 by in OBSTETRICS Comments Off on Abnormal Ultrasound Findings

Heterozygous mutations in the TCF2 (transcription factor 2) gene are an important cause of bilateral hyperechogenic kidneys and kidneys with cystic dysplasia. The phenotype associated with TCF2 gene mutations is…

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First and Second Trimester Screening

Jul 31, 2016 by in OBSTETRICS Comments Off on First and Second Trimester Screening

Detailed ultrasonographic examination should be performed at 16–18 weeks’ gestation to evaluate the fetal anatomy and to assess whether the nuchal measurement is in the normal range or is persistently…

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