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Box 1.1 Factors that influence estimates of the incidence or prevalence in the newborn of a congenital malformation (CM) or genetic disorder
ОглавлениеAvailability and use of expertise in prenatal diagnostic ultrasound and MRI
Accuracy of diagnosis
Age at diagnosis
Case selection, bias, and ascertainment
Congenital hypothyroidism
Consanguinity
Definitions of major and minor congenital anomalies
Diagnostic DNA analysis
Duration of follow‐up
Economic level in developed or developing world
Environmental toxins
Family history
Frequency, inclusion, and exclusion of stillbirths, fetal deaths, and elective pregnancy termination
Frequency of certain infectious diseases
Frequency of de novo gene mutations
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
Mortality rates decreasing
Multiple pregnancy rate
Necropsy
Noninvasive prenatal testing using cell‐free fetal DNA for chromosomal abnormalities and monogenic disorders
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