Genetic Disorders and the Fetus
Diagnosis, Prevention, and Treatment
Aubrey Milunsky, Jeff M. Milunsky
- English
- ePUB (mobile friendly)
- Available on iOS & Android
Genetic Disorders and the Fetus
Diagnosis, Prevention, and Treatment
Aubrey Milunsky, Jeff M. Milunsky
About This Book
Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years.
The seventh edition continues the long-established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non-invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief. The broad-ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis.
The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world-leading text.
Frequently asked questions
Information
1
Genetic Counseling: Preconception, Prenatal, and Perinatal
Incidence, prevalence and burden of genetic disorders and congenital malformations
Box 1.1 Factors that influence estimates of the incidence or prevalence in the newborn of a congenital malformation (CM) or genetic disorder
- Availability and use of expertise in prenatal diagnostic ultrasound
- Case selection, bias and ascertainment
- Consanguinity
- Definitions of major and minor congenital anomalies
- Diagnostic DNA analysis
- Economic level in developed or developing world
- Family history
- Frequency, inclusion and exclusion of stillbirths, fetal deaths and elective pregnancy termination
- Frequency of certain infectious diseases
- History of recurrent spontaneous abortion
- In vitro fertilization
- Incidence and severity of prematurity
- Infertility
- Intracytoplasmic sperm injection
- Later manifestation or onset of disorder
- Maternal age
- Maternal alcohol abuse
- Maternal diabetes and gestational diabetes
- Maternal diet
- Maternal epilepsy, lupus erythematosus and other illnesses
- Maternal fever or use of hot tub in the first 6 weeks of pregnancy
- Maternal folic acid supplementation
- Maternal grandmother's age
- Maternal obesity
- Maternal serum screening for chromosome abnormalities
- Maternal smoking
- Maternal specific susceptibility genes
- Maternal use of medication
- Multiple pregnancy rate
- Necropsy
- Noninvasive prenatal screening
- Parent with a congenital abnormality or genetic disorder
- Paternal age
- Previous affected child
- Previous maternal immunization/vaccination
- Season of the year
- Training and expertise in examination of newborns
- Use of chromosomal analysis
- Use of chromosomal microarray
- Use of whole exome sequencing
- Use of whole genome sequencing
- Use of death certificates
- Use of registry data
Incidence and prevalence
Rate per | ||
million | Total | |
Category | livebirths | births (%) |
A | ||
Dominant | 1,395.4 | 0.14 |
Recessive | 1,665.3 | 0.17 |
X-linked | 532.4 | 0.05 |
Chromosomal | 1,845.4 | 0.18 |
Multifactorial | 46,582.6 | 4.64 |
Genetic unknown | 1,164.2 | 0.12 |
Total | 53,175.3 | 5.32a |
B | ||
All congenital anomalies 740–759b | 52,808.2 | 5.28 |
Congenital anomalies with genetic etiology (included in section A) | 26,584.2 | 2.66 |
C | ||
Disorders in section A plus those congenital anomalies not already included | 79,399.3 | 7.94 |