Trisomy 9National Down Syndrome SocietyPrenatal diagnosis: Prenatal diagnosis or prenatal screening (note that prenatal diagnosis and prenatal screening refer to two different types of tests) is testing for diseases or conditions in a fetus or embryo before it is born. The aim is to detect birth defects such as neural tube defects, Down syndrome, chromosome abnormalities, genetic disorders and other conditions, such as spina bifida, cleft palate, Tay Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, Muscular dystrophy, and fragile X syndrome.Confined placental mosaicism: Confined placental mosaicism (CPM) represents a discrepancy between the chromosomal makeup of the cells in the placenta and the cells in the baby. CPM was first described by Kalousek and Dill in 1983.Epicanthic fold: Epicanthic fold (), epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold..Genetic imbalance: Genetic imbalance is to describe situation when the genome of a cell or organism has more copies of some genes than other genes due to chromosomal rearrangements or aneuploidy.Prenatal nutrition: Nutrition and weight management before and during :pregnancy has a profound effect on the development of infants. This is a rather critical time for healthy fetal development as infants rely heavily on maternal stores and nutrient for optimal growth and health outcome later in life.Nasal fractureOncogene: An oncogene is a gene that has the potential to cause cancer.Wilbur, Beth, editor.Partial monosomy 13q: Partial monosomy of chromosome 13q is a monosomy that results from the loss of all or part of the long arm of chromosome 13 in human beings. It is a rare genetic disorder which results in severe congenital abnormalities which are frequently fatal at an early age.Maternal-fetal medicine: Maternal-fetal medicine (MFM) is the branch of obstetrics that focuses on the medical and surgical management of high-risk pregnancies. Management includes monitoring and treatment including comprehensive ultrasound, chorionic villus sampling, genetic amniocentesis, and fetal surgery or treatment.Gestational age: Gestational age (or menstrual age) is a measure of the age of a pregnancy where the origin is the woman's last normal menstrual period (LMP), or the corresponding age as estimated by other methods. Such methods include adding 14 days to a known duration since fertilization (as is possible in in vitro fertilization), or by obstetric ultrasonography.Hyperphosphatasia with mental retardation syndrome: Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.Prayer bump: A zebibah (Arabic زبيبة zabība, "raisin"), also known as a zabiba or zebiba, or browneye, is a mark on the forehead of some Muslims, apparently due to the friction generated by repeated contact of the forehead with the prayer mat during daily prayers.
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