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Fetal abnormalities are conditions that affect a fetus or embryo, are able to be diagnosed prenatally, and may be fatal or cause disease after birth. They may include aneuploidies, structural abnormalities, or neoplasms. Acardiac twin; Achondrogenesis; Achondroplasia
Birth defect is a widely used term for a congenital malformation, i.e. a congenital, physical anomaly that is recognizable at birth, and which is significant enough to be considered a problem.
Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis
Assess the impact of developments in prenatal screening. Act as an information and resource center regarding clusters or exposures or risk factors for concern. Provide a ready collaborative network and infrastructure for research related to the causes and prevention of congenital anomalies and the treatment and care of affected children.
In January 2017, the journal was merged with Birth Defects Research Part B and Birth Defects Research Part C and given its present name Birth Defects Research. The Journal is the official publication of the Society for Birth Defects Research and Prevention. [5] According to the Journal Citation Reports, the journal has a 2020 impact factor of 2 ...
Congenital rubella syndrome (CRS) occurs when a human fetus is infected with the rubella virus (German measles) via maternal-fetal transmission and develops birth defects. [1] The most common congenital defects affect the ophthalmologic, cardiac, auditory, and neurologic systems. [2]
fetal infections (maternofetal infections) genetic causes (or intrinsic causes) (genetic malformative diseases) chromosomal anomalies (chromosomal malformative diseases) numerical chromosomal anomalies (e.g. trisomy 13, trisomy 18, trisomy 21) structural chromosomal anomalies microdeletions (microdeletion syndromes) chromosomal rearrangements
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.