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Screening for Down syndrome by a combination of maternal age and thickness of nuchal translucency in the fetus at 11–14 weeks of gestation was introduced in the 1990s. [7] This method identifies about 75% of affected fetuses while screening about 5% of pregnancies. Natural fetal loss after positive diagnosis at 12 weeks is about 30%. [6]
CPM occurs in one of two ways: Mitotic CPM - Mitotic non-disjunction can occur in a trophoblast cell or a non-fetal cell from the inner cell mass creating a trisomic cell line in the tissue which is destined to become the placental mesoderm.
Nicolaides has developed methods of (i) screening for premature birth (which is the main cause of perinatal morbidity and mortality) by measurement of cervical length and prevention through the use of vaginal progesterone, [9] (ii) screening for pre-eclampsia (which is one of the main causes of maternal mortality) by measurement of blood flow ...
Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
For Ashley Zambelli, a surprise diagnosis allowed her to have an even more special bond with her children.. The Michigan-based mom, 23, recently found out she has Mosaic Down syndrome, a condition ...
Ultrasound imaging provides the opportunity to conduct a nuchal translucency (NT) scan screening for chromosomal abnormalities such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). Using the information from the NT scan the mother can be offered an invasive diagnostic test for fetal chromosomal ...
Benacerraf pioneered the field of "genetic sonography" [3] with her discovery that nuchal fold thickness–the distance between the occipital bone and the surface of the overlying skin at back of the neck–was a reliable metric for second-trimester diagnosis of Down syndrome.
Meningism is a set of symptoms similar to those of meningitis but not caused by meningitis. [1] [3] [4] Whereas meningitis is inflammation of the meninges (membranes that cover the central nervous system), meningism is caused by nonmeningitic irritation of the meninges, usually associated with acute febrile illness, [1] [2] especially in children and adolescents. [2]