Biomaterial Database

[Maternal serum alpha-fetoprotein as a screening test for fetal Down syndrome]. 1995

T Bessho, and R Kanazawa, and T Shiotani, and M Mitsuo, and K Koyama

Perinatal Unit, Hyogo Medical College.

An association between a low maternal serum alpha-fetoprotein (MSAFP) level and an increased incidence of Down syndrome is well documented. This study was undertaken to elucidate the diagnostic efficacy of MSAFP as a screening test for Down syndrome in 711 Japanese women who underwent genetic amniocentesis between 14 and 20 gestational weeks of age in Hyogo Medical College Hospital. The mean value for the multiple of the median (MoM) of the MSAFP level in 11 pregnancies associated with Down syndrome was 0.78 +/- 0.47 and 1.12 +/- 0.67, respectively. A cut-off value of < 0.45, < 0.50, < 0.55 and < 0.60 MoM yielded negative predictive values of 98.6%, 98.5%, 99.0% and 99.2%, positive predictive values of 6.3%, 4.0%, 9.1% and 8.6%, a sensitivity of 9.1%, 9.1%, 36.4% and 54.5%, and false positive rates of 2.1%, 3.4%, 5.7% and 9.1%, respectively. The combining of MSAFP and maternal age improves the expected results of a strategy for Down syndrome.

UI	MeSH Term	Description	Entries
D008423	Maternal Age	The age of the mother in PREGNANCY.	Age, Maternal,Ages, Maternal,Maternal Ages
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D011296	Prenatal Diagnosis	Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.	Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D004314	Down Syndrome	A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)	Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D005260	Female		Females
D005315	Fetal Diseases	Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.	Embryopathies,Disease, Fetal,Diseases, Fetal,Embryopathy,Fetal Disease
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D000509	alpha-Fetoproteins	The first alpha-globulins to appear in mammalian sera during FETAL DEVELOPMENT and the dominant serum proteins in early embryonic life.	alpha-Fetoprotein,alpha Fetoprotein,alpha Fetoproteins
D018566	Pregnancy, High-Risk	Pregnancy in which the mother and/or FETUS are at greater than normal risk of MORBIDITY or MORTALITY. Causes include inadequate PRENATAL CARE, previous obstetrical history (ABORTION, SPONTANEOUS), pre-existing maternal disease, pregnancy-induced disease (GESTATIONAL HYPERTENSION), and MULTIPLE PREGNANCY, as well as advanced maternal age above 35.	High-Risk Pregnancy,High Risk Pregnancy,High-Risk Pregnancies,Pregnancies, High-Risk,Pregnancy, High Risk