{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:10:02Z","timestamp":1759723802475,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,4]]},"abstract":"<jats:p>Dot blot analysis on enzymatically amplified trophoblast DNA with allele specific oligonucleotide probes is currently used for the prenatal diagnosis of single gene disorders characterised at the molecular level, such as the beta thalassaemias, phenylketonuria, sickle cell anaemia, and alpha 1-anti-trypsin deficiency. A potential problem with the use of this procedure is the co-amplification of maternal sequences, which may obscure the diagnosis in the fetus. To address this question, we carried out prenatal diagnosis of beta thalassaemia in 300 couples at risk by dot blot analysis on enzymatically amplified DNA with 32P or horseradish peroxidase labelled allele specific oligonucleotide probes. We verified the diagnosis obtained by this procedure with oligonucleotide hybridisation on electrophoretically separated non-amplified trophoblast DNA fragments. We detected no co-amplified maternal sequences, even with a faint signal, in the dot blot of trophoblast DNA from those fetuses diagnosed as normal or homozygotes, nor in those diagnosed as heterozygotes, who were born to parents carrying different mutations and had inherited the paternal mutation. These results indicate that, when careful dissection of trophoblast tissue from maternal decidua is carried out, amplification of chorionic villi DNA is not associated with amplification of maternal DNA sequences. We may thus conclude that dot blot analysis of trophoblast DNA is a very reliable procedure for prenatal diagnosis.<\/jats:p>","DOI":"10.1136\/jmg.27.4.249","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"249-251","source":"Crossref","is-referenced-by-count":4,"title":["Reliability of prenatal diagnosis of genetic diseases by analysis of amplified trophoblast DNA."],"prefix":"10.1136","volume":"27","author":[{"given":"M C","family":"Rosatelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Sardu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Tuveri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M T","family":"Scalas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Di Tucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"De Murtas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Loudianos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Monni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1990,4,1]]},"reference":[{"key":"ref_1","first-page":"763","article-title":"Prenatal diagnosis of alpha-l-antitrypsin deficiency using polymerase chain reaction","volume":"i:","author":"Abbott, C.M.; McMahon, C.J.; Whitehouse, D.B.; Povey, S.","year":"1988","unstructured":"Abbott CM, McMahon CJ, Whitehouse DB, Povey S. 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An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A. N Engl 7 Med 1987;317:985-90.","journal-title":"N Engl 7 Med"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1038\/329293b0","article-title":"Detection of sickle cell anaemia and thalassaemias","volume":"329","author":"Chehab, F.F.; Doherty, M.; Cai, S.; Kan, Y.W.; Cooper, S.; Rubin, E.M.","year":"1987","unstructured":"Chehab FF, Doherty M, Cai S, Kan YW, Cooper S, Rubin EM. Detection of sickle cell anaemia and thalassaemias. Nature 1987;329:293-4.","journal-title":"Nature"},{"issue":"3","key":"ref_5","first-page":"269","article-title":"Simple and rapid nonradioactive DNA analvsis for the prenatal diagnosis of sickle cell anemia and homozygous (t-thalassemia. Am7 Hum Genet","volume":"41","author":"Chehab, F.F.; Cai, S.P.; Doherty, M.; Kan, Y.W.; Cooper, S.; Rubin, E.M.","year":"1987","unstructured":"Chehab FF, Cai SP, Doherty M, Kan YW, Cooper S, Rubin EM. Simple and rapid nonradioactive DNA analvsis for the prenatal diagnosis of sickle cell anemia and homozygous (t-thalassemia. Am7 Hum Genet 1987;41 (suppl 3):269A."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1420","DOI":"10.1182\/blood.V72.4.1420.1420","article-title":"A novel beta-thalassemia frameshift mutation (codon 14\/15), detectable bv direct visualization of abnormal restriction fragment in amplified genomic DNA","volume":"72","author":"TK, Chan V.? Chan; YW, Kan; D, Todd","year":"1988","unstructured":"Chan V? Chan TK, Kan YW, Todd D. A novel beta-thalassemia frameshift mutation (codon 14\/15), detectable bv direct visualization of abnormal restriction fragment in amplified genomic DNA. Blood 1988;72:1420-3.","journal-title":"Blood"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/324163a0","article-title":"Analysis of enzymatically amplified Y-globin and HLA-DQ(x DNA with allele-specific oligonucleotide probes","volume":"324","author":"Saiki, R.K.; Bugawan, T.L.; Horn, G.T.; Mullis, K.B.; Erlich, H.A.","year":"1986","unstructured":"Saiki RK, Bugawan TL, Horn GT, Mullis KB, Erlich HA. Analysis of enzymatically amplified Y-globin and HLA-DQ(x DNA with allele-specific oligonucleotide probes. Nature 1986; 324:163-6.","journal-title":"Nature"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1357","DOI":"10.1182\/blood.V71.5.1357.1357","article-title":"A simple approach to prenatal diagnosis of beta-thalassemia in a geographic area where multiple mutations occur","volume":"71","author":"Cai, S.P.; Zhang, J.Z.; Huang, D.H.; Wang, Z.X.; Kan, Y.W.","year":"1988","unstructured":"Cai SP, Zhang JZ, Huang DH, Wang ZX, Kan YW. A simple approach to prenatal diagnosis of beta-thalassemia in a geographic area where multiple mutations occur. Blood 1988; 71:1357-60.","journal-title":"Blood"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1056\/NEJM198809013190903","article-title":"Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele specific oligonucleotide probes","volume":"319","author":"Saiki, R.K.; Chang, C.A.; Levenson, C.H.","year":"1988","unstructured":"Saiki RK, Chang CA, Levenson CH, et al. Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele specific oligonucleotide probes. N Engl.7 Med 1988;319:537-41.","journal-title":"N Engl.7 Med"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/S0140-6736(85)91026-8","article-title":"Prenatal diagnosis of beta-thalassaemia with the svnthetic-oligomer technique","volume":"i:","author":"Rosatelli, C.; Falchi, A.M.; Tuveri, T.","year":"1985","unstructured":"Rosatelli C, Falchi AM, Tuveri T, et al. Prenatal diagnosis of beta-thalassaemia with the svnthetic-oligomer technique. Lancet 1985;i:241-3.","journal-title":"Lancet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1182\/blood.V72.4.1107.1107","article-title":"Molecular basis and prenatal diagnosis of 1'-thalassemia","volume":"72","author":"HH, Jr, Kazazian; CD, Boehm","year":"1988","unstructured":"Kazazian HH Jr, Boehm CD. Molecular basis and prenatal diagnosis of 1'-thalassemia. 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Prenatal diagnosis of I; thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes. 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