A rapid and sensitive prenatal diagnosis of familial amyloidotic polyneuropathy ATTR Val30Met by mass spectrometry.
OBJECTIVE
To make a prenatal diagnosis of familial amyloidotic polyneuropathy (FAP) by mass spectrometry with the amniotic fluid.


METHODS
Amniotic-fluid samples of three non-FAP pregnant women and six amniotic-fluid samples of fetal mice whose mother was a heterozygotic FAP amyloidgenic transthyretin (ATTR) Val30Met gene carrier were collected. Electro spray ionization mass spectrometry (ESI-MS) was employed to identify and quantitatively measure the molecular weight of the human transthyretin (TTR) in the amniotic fluid.


RESULTS
TTR was detected in the amniotic fluid of all the human samples. In four of the six fetuses of the transgenic mice, human TTR Val30Met was detected. The other two samples showed only mouse TTR without human TTR Val30Met. DNA analysis revealed that the four fetuses were TTR Val30Met positive, but two were negative. The data from the DNA analysis and ESI-MS showed a 100% concordance.


CONCLUSIONS
Mass spectrometry analysis of the amniotic fluid might be a useful tool to make a prenatal diagnosis of FAP ATTR Val30Met.
Yamashita
Taro
T
Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto 860-0811, Japan. taro-yamashita@fc.kuh.kumamoto-u.ac.jp
Ando
Yukio
Y
Ueda
Mitsuharu
M
Okamoto
Sadahisa
S
Misumi
Yohei
Y
Nakamura
Masaaki
M
Takashi
Ohba
O
Uchino
Makoto
M
D000653:Amniotic Fluid / Q000737:chemistry; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis* / Q000235:genetics; D000818:Animals; D000906:Antibodies / Q000032:analysis / Q000378:metabolism; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D013058:Mass Spectrometry / Q000379:methods*; D008715:Methionine / Q000737:chemistry / Q000235:genetics; D051379:Mice; D008822:Mice, Transgenic; D011228:Prealbumin / Q000032:analysis* / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012680:Sensitivity and Specificity; D013997:Time Factors; D014633:Valine / Q000737:chemistry / Q000235:genetics
D000906:Antibodies; D011228:Prealbumin; D008715:Methionine; D014633:Valine