Table of Contents
1 Cover
5 Preface
8 1 Genetic Counseling: Preconception, Prenatal, and Perinatal The burden of genetic disorders and congenital malformations Incidence and prevalence of genetic disorders and congenital malformations Congenital malformations and infant morbidity and mortality The goal and purpose of prenatal diagnosis Prerequisites for genetic counseling Guiding principles for genetic counseling Preconception genetic counseling Genetic counseling as a prelude to prenatal diagnosis Perinatal genetic counseling The efficacy of genetic counseling References
9 2 Preimplantation Genetic Testing Approaches to preimplantation genetic testing Preimplantation genetic analysis Ethical and legal issues Conclusion References
10 3 Amniotic Fluid Constituents, Cell Culture, and Neural Tube Defects Introduction Amniotic fluid Amniotic fluid cell culture References
11 4 Molecular Aspects of Placental Development Overview Placental structure Placental development and function Placental insufficiency Fetal growth restriction Preeclampsia Genetic findings associated with molar changes in the placenta Placental mesenchymal dysplasia DNA methylation studies in the placenta and their clinical application Epigenetic studies in the placenta and environment The placenta as a predictor of child health Further considerations References
12 5 Fetal Origins of Adult Health and Disease Introduction Epigenetics and programming Energy‐balance programming: under‐ and overnutrition Environmental toxins Maternal stress and anxiety Glucocorticoids and prematurity Organ‐specific programming effects Conclusion References
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6 Maternal Serum Screening for Chromosomal Abnormalities and Neural Tube Defects
Chromosomal abnormalities
Neural tube defects
Screening and prenatal diagnosis
Widely used markers
Additional markers
Marker distributions in Down syndrome, neural tube defect, and unaffected pregnancies
Risk screening for Down syndrome
Age‐specific Down syndrome risk at term
Down syndrome risk at the time of the test
Down syndrome likelihood ratios
Modeling performance of Down syndrome screening
Established multimarker Down syndrome policies
Model performance of neural tube defect screening
Prospective