Alpha-fetoprotein microheterogeneity: a potential biochemical marker for Down’s syndrome

Yamamoto, Ritsu; Azuma, Masaki; Wakui, Yukio; Kishida, Tatsuro; Yamada, Hideto; Okuyama, Kazuhiko; Sagawa, Tadashi; Shimizu, Kayoko; Satomura, Shinji; Fujimoto, Seiichiro

doi:10.1016/s0009-8981(00)00381-8

“…It is known that during the early fetal period, alpha-fetoprotein, which has an additional fucose residue on N-acetylglucosamine at the reducing end (alpha-fetoprotein-L3), or possesses the bisecting N-acetylglucosamine in addition to the fucosylated alpha-fetoprotein (alpha-fetoprotein-L2), are produced in the fetal livers in relatively large quantities 19 . It has been found by Lens culinaris agglutinen electrophoresis that both maternal serum and amniotic fluid show a significantly high % alpha-fetoprotein-L2 1 L3 in pregnant women affected by Down's syndrome 5 .…”

Section: Discussionmentioning

confidence: 99%

“…The carbohydrates of alpha-fetoprotein are heterogenous, which is reflected by differences in the binding of individual alpha-fetoprotein molecules to lectins. We have previously clarified that the measurement of the proportion of Lens culinaris agglutinin reactive alpha-fetoprotein (% alpha-fetoprotein-L2 1 L3) in maternal serum is a potential biochemical marker for Down's syndrome 5 .…”

Section: Introductionmentioning

confidence: 99%

Total alpha-fetoprotein and Lens culinaris agglutinin-reactive alpha-fetoprotein in fetal chromosomal abnormalities

Yamamoto

¹

,

Azuma

²

,

Kishida

³

et al. 2001

British Journal of Obstetrics and Gynaecology

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Objective To examine the differences in multiples of the median (MoM) of total alpha-fetoprotein, and the proportion of Lens culinaris agglutinin reactive alpha-fetoprotein (% alpha-fetoprotein-L2 1 L3) in the maternal serum and amniotic fluid of pregnant women whose fetuses were diagnosed with autosomal or sex chromosomal abnormalities. Design Prospective consecutive series. Setting University hospital.Sample Maternal sera and amniotic fluids from 46 pregnant women with trisomy 21 fetuses, 10 pregnant women with trisomy 18 fetuses, one pregnant woman with a trisomy 13 fetus, six pregnant women with fetal sex chromosomal abnormalities, and 100 pregnant women for whom the fetal karyotype was diagnosed as normal following a genetic amniocentesis. Results The proportion of alpha-fetoprotein-L2 1 L3 in maternal serum for trisomy 21 (40.3%, P , 0.0001) and trisomy 18 (39.8%, P , 0.05) showed a significantly higher value compared with normal (32.6%). The proportion of alpha-fetoprotein-L2 1 L3 in amniotic fluid was significantly higher (P , 0.0001) for trisomy 21 (46.6%) than for a normal karyotype (41.5%). Only for the trisomy 21 group was there a strong correlation in the % alpha-fetoprotein-L2 1 L3 between maternal serum and amniotic fluid (r ¼ 0.840, P , 0.0001). For all groups, there was no correlation between alpha-fetoprotein MoM and % alpha-fetoprotein-L2 1 L3 in maternal serum and amniotic fluid. Conclusion The proportion of alpha-fetoprotein-L2 1 L3 in maternal serum is an appropriate choice for a trisomy 21 biochemical marker, and it is possible that combining alpha-fetoprotein-L2 1 L3 analysis with assays of alpha-fetoprotein in maternal serum could further improve the sensitivity and specificity of multiple marker screening.

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“…It is known that during the early fetal period, alpha‐fetoprotein, which has an additional fucose residue on N‐acetylglucosamine at the reducing end (alpha‐fetoprotein‐L3), or possesses the bisecting N‐acetylglucosamine in addition to the fucosylated alpha‐fetoprotein (alpha‐fetoprotein‐L2), are produced in the fetal livers in relatively large quantities 19 . It has been found by Lens culinaris agglutinen electrophoresis that both maternal serum and amniotic fluid show a significantly high % alpha‐fetoprotein‐L2+L3 in pregnant women affected by Down's syndrome 5 .…”

Section: Discussionmentioning

confidence: 99%

“…The phenomenon of a decrease in the percentage of alpha‐fetoprotein‐L2+L3 as the pregnancy progresses is considered to be a reflection of the maturity of the fetal liver, and it is assumed that de‐differentiation or immaturity of the fetal liver in trisomy 21 causes a high % alpha‐fetoprotein‐L2+L3 in the amniotic fluid and maternal serum 5 . However, it is of interest that in the present study there was no change in % alpha‐fetoprotein‐L2+L3 for trisomy 18, which showed a lower alpha‐fetoprotein value in maternal serum than trisomy 21.…”

Section: Discussionmentioning

confidence: 99%

“…The carbohydrates of alpha‐fetoprotein are heterogenous, which is reflected by differences in the binding of individual alpha‐fetoprotein molecules to lectins. We have previously clarified that the measurement of the proportion of Lens culinaris agglutinin reactive alpha‐fetoprotein (% alpha‐fetoprotein‐L2+L3) in maternal serum is a potential biochemical marker for Down's syndrome 5 .…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Total alpha‐fetoprotein and Lens culinaris agglutinin‐reactive alpha‐fetoprotein in fetal chromosomal abnormalities

Yamamoto

¹

,

Azuma

²

,

Kishida

³

et al. 2001

BJOG

Self Cite

View full text Add to dashboard Cite

Objective To examine the differences in multiples of the median (MoM) of total alpha-fetoprotein, and the proportion of Lens culinaris agglutinin reactive alpha-fetoprotein (% alpha-fetoprotein-L2 1 L3) in the maternal serum and amniotic fluid of pregnant women whose fetuses were diagnosed with autosomal or sex chromosomal abnormalities. Design Prospective consecutive series. Setting University hospital.Sample Maternal sera and amniotic fluids from 46 pregnant women with trisomy 21 fetuses, 10 pregnant women with trisomy 18 fetuses, one pregnant woman with a trisomy 13 fetus, six pregnant women with fetal sex chromosomal abnormalities, and 100 pregnant women for whom the fetal karyotype was diagnosed as normal following a genetic amniocentesis. Results The proportion of alpha-fetoprotein-L2 1 L3 in maternal serum for trisomy 21 (40.3%, P , 0.0001) and trisomy 18 (39.8%, P , 0.05) showed a significantly higher value compared with normal (32.6%). The proportion of alpha-fetoprotein-L2 1 L3 in amniotic fluid was significantly higher (P , 0.0001) for trisomy 21 (46.6%) than for a normal karyotype (41.5%). Only for the trisomy 21 group was there a strong correlation in the % alpha-fetoprotein-L2 1 L3 between maternal serum and amniotic fluid (r ¼ 0.840, P , 0.0001). For all groups, there was no correlation between alpha-fetoprotein MoM and % alpha-fetoprotein-L2 1 L3 in maternal serum and amniotic fluid. Conclusion The proportion of alpha-fetoprotein-L2 1 L3 in maternal serum is an appropriate choice for a trisomy 21 biochemical marker, and it is possible that combining alpha-fetoprotein-L2 1 L3 analysis with assays of alpha-fetoprotein in maternal serum could further improve the sensitivity and specificity of multiple marker screening.

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Second trimester serum tests for Down's Syndrome screening

Alldred

¹

,

Deeks

²

,

Guo

³

et al. 2012

Cochrane Database of Systematic Reviews

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Background Down's syndrome occurs when a person has three copies of chromosome 21-or the specific area of chromosome 21 implicated in causing Down's syndrome-rather than two. It is the commonest congenital cause of mental retardation. Noninvasive screening based on biochemical analysis of maternal serum or urine, or fetal ultrasound measurements, allows estimates of the risk of a pregnancy being a ected and provides information to guide decisions about definitive testing. Objectives To estimate and compare the accuracy of second trimester serum markers for the detection of Down's syndrome.

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Alpha-fetoprotein microheterogeneity: a potential biochemical marker for Down’s syndrome

Cited by 20 publications

References 13 publications

Total alpha-fetoprotein and Lens culinaris agglutinin-reactive alpha-fetoprotein in fetal chromosomal abnormalities

Total alpha-fetoprotein and Lens culinaris agglutinin-reactive alpha-fetoprotein in fetal chromosomal abnormalities

Total alpha‐fetoprotein and Lens culinaris agglutinin‐reactive alpha‐fetoprotein in fetal chromosomal abnormalities

Second trimester serum tests for Down's Syndrome screening

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