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Down Syndrome In African Americans
Down syndrome is the classic presentation clinically of the congenital malformation syndrome also known as Trisomy 21. Classic features may include simian creases, epicanthal folds, upslanting palpebral fissures, flat nasal bridge, hypertelorism, low set ears, endocardial cushion defects of the heart, atlanto-axial joint instability, blood ...Read more
Old world term: Before the chromosome defect was found in '60's, the the facial structure of down syndrome kids/adults, reminded folks of the features of mongolian race. Original scientific publications used that terminology. It was well into the '70's before the descriptions began to change ; the public began to use the term down syndrome exclusively. ...Read more
Before/after birth ?: There are a variety of screening or confirmatory tests that can be done during pregnancy. After birth, many physical features are suggestive of the diagnosis, but the physician involved would order a chromosome test to confirm or exclude the issue.Over the years,some had signs so mild many would miss the diagnosis.Others looked so different I didn't believe it. ...Read more
None of the above: Down syndrome happens when an extra 21 chromosome is present in all the cells of the body. It happens before conception when the donor egg fails to shed one of its 21 chromosomes in the formation of the egg; the male 21 joins the female pair & creates an embryo with 3 number 21's. It has nothing to do with traits or mutations in the gene code. ...Read moreSee 1 more doctor answer
If Mom is 36 at term: risk of having a fetus with DS at 16 weeks' gestation is 1:200; risk of having a full-term baby with DS is 1:275. If mom is 37 at term, risk at 16 weeks is 1:150; at term, 1:225, because some pregnancies are lost. Comprehensive 1st trimester screening & integrated 1st & 2nd trimester screening calculate risk by specific hormone & protein levels in mom's blood + fetal ultrasound + maternal age. ...Read more
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