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…
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…
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…
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…
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…
Fetal Infection and Teratogens
html xmlns=”http://www.w3.org/1999/xhtml”> Chapter 7 Fetal Infection and Teratogens Fetal Infection Case 1 A 24-year-old woman is referred for detailed ultrasonographic examination at 17 weeks’ gestation because biochemical serum screening predicted…
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…
