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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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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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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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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Infectious diseases

Jul 31, 2016 by in OBSTETRICS Comments Off on Infectious diseases

Relevant terms Arthropathy—joint pain or joint disease Avidity testing—measures antibody maturity to detect recent primary infection Congenital—present at birth; may or may not be hereditary Congenital anomaly—structural or functional health…

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Common complications during the postnatal period

Jul 31, 2016 by in OBSTETRICS Comments Off on Common complications during the postnatal period

Relevant terms Anxiety disorders—generalized anxiety disorder, obsessive-compulsive disorder, panic disorder, and post-traumatic stress disorder Deep vein thrombosis—inflammation of a vein located deep within a muscle secondary to a blood clot…

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Lactation and breastfeeding

Jul 31, 2016 by in OBSTETRICS Comments Off on Lactation and breastfeeding

Relevant terms Alveolus—the milk-secreting unit of the breast; a saclike structure lined by milk-secreting cells; contains a hollow center drained by a small milk duct; surrounded by muscle cells and…

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