Diagnosis of Down Syndrome
Diagnostic Test list for Down Syndrome:
The list of medical tests
mentioned in various sources as
used in the diagnosis of Down Syndrome
includes:
- Prenatal testing
- DNA testing of parents - this tests for Familial Down Syndrome subtype.
- Chromosomal karyotype - to confirm the diagnosis after birth.
- Thyroid blood tests - to test for hypothyroidism.
Down Syndrome Diagnosis: Book Excerpts
Diagnosis of Down Syndrome: medical news summaries:
The following medical news items
are relevant to diagnosis and misdiagnosis issues for Down Syndrome:
Diagnostic Tests for Down Syndrome: Online Medical Books
16 MEDICAL BOOKS ONLINE!
Review excerpts from medical books online, free, without registration,
for more information about diagnostis of Down Syndrome.
Trisomy 13 syndrome:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Multiple marker maternal serum screening tests, involving different combinations of alpha-fetoprotein, human chorionic gonadotropin (HCG) or free beta-HCG in some labs, and unconjugated estriol, may be abnormal in some pregnant women with an affected fetus; however, these tests aren't diagnostic.
Ultrasound commonly reveals multiple abnormalities in the fetus; however, because many multiple malformation syndromes have similar features, the diagnosis should be based on karyotype, done either prenatally or on peripheral blood lymphocytes or skin fibroblasts in a neonate or an aborted fetus. The neonate may have a single umbilical artery at birth. Magnetic resonance imaging or a computed tomography scan of the head may reveal a structural abnormality of the brain (holoprosencephaly) where the two cerebral hemispheres are fused.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Down syndrome:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Physical findings at birth, especially hypotonia, may suggest this diagnosis, but no physical feature is diagnostic in itself.
Confirming diagnosis
A karyotype showing the specific chromosomal abnormality provides a definitive diagnosis. Amniocentesis allows prenatal diagnosis and is recommended for pregnant women older than age 34 even if the family history is negative. Amniocentesis is also recommended for a pregnant woman of any age when either she or the father carries a translocated chromosome.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Trisomy 18 syndrome:
Diagnosis
(Professional Guide to Diseases (Eighth Edition))
Multiple marker maternal serum screening tests involving different combinations of alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol may be abnormal in many pregnant women with an affected fetus; however; these tests aren't diagnostic. Fetal ultrasound may reveal varying degrees of abnormalities, but many fetuses have few detectable defects.
Diagnosis should be based on karyotype, done either prenatally or using peripheral blood of skin fibroblasts after birth.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Down syndrome:
Diagnosis
(Handbook of Diseases)
Physical findings at birth, especially hypotonia, may suggest this diagnosis, but no physical feature is diagnostic in itself.
A karyotype showing the specific chromosomal abnormality provides a definitive diagnosis. Amniocentesis allows prenatal diagnosis and is recommended for pregnant women older than age 34, even if the family history is negative. Amniocentesis is also recommended for any pregnant woman if she or the father carries a translocated chromosome.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
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