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Basel-Vanagaite L.

Detskiĭ meditsinskiĭ tsentr im. Schneider, Izrail', Petakh-Tikva: Geneticheskiĭ Institut im. Raphael Recanati;
Rabin Meditsinskiĭ tsentr, Petakh-Tikva;
Fakul'tet Meditsiny im. Sackler, Universitet Tel'-Aviva, Tel'-Aviv, Izrail'

Prenatal genetic diagnostics

Authors:

Basel-Vanagaite L.

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To cite this article:

Basel-Vanagaite L. Prenatal genetic diagnostics. Russian Journal of Human Reproduction. 2012;(5):89‑92. (In Russ.)

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References:

  1. Basel-Vanagaite L., Taub E., Halpern G.J., Drasinover V., Magal N., Davidov B., Zlotogora J., Shohat M. Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel. Eur J Hum Genet 2007; 15: 250-253.
  2. Bell C.J., Dinwiddie D.L., Miller N.A., Hateley S.L., Ganusova E.E., Mudge J., Langley R.J., Zhang L., Lee C.C., Schilkey F.D., Sheth V., Woodward J.E., Peckham H.E., Schroth G.P., Kim R.W., Kingsmore S.F. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 2011; 3: 65: 65: 4.
  3. Chen E.Z., Chiu R.W., Sun H., Akolekar R., Chan K.C., Leung T.Y., Jiang P., Zheng Y.W., Lun F.M., Chan L.Y., Jin Y., Go A.T., Lau E.T., To W.W., Leung W.C., Tang R.Y., Au-Yeung S.K., Lam H., Kung Y.Y., Zhang X., van Vugt J.M., Minekawa R., Tang M.H., Wang J., Oudejans C.B., Lau T.K., Nicolaides K.H., Lo Y.M. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One 2011; 6: 7: e21791.
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  5. Cuckle H., Benn P. Multianalyte maternal serum screening for chromosomal defects. In: Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. 6th ed. Ed. A. Milunsky. Baltimore: Johns Hopkins University 2009.
  6. Devaney S.A., Palomaki G.E., Scott J.A., Bianchi D.W. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA 2011; 306: 627-636.
  7. DeVore G.R. The genetic sonogram: its use in the detection of aneuploidy in fetuses of women of advanced maternal age. Prenat Diagn 2001; 21: 40-45.
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  9. Nicolaides K.H. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011; 31: 7-15.
  10. Nowakowska B.A., de Leeuw N., Ruivenkamp C.A., Sikkema-Raddatz B., Crolla J.A., Thoelen R., Koopmans M., den Hollander N., van Haeringen A., van der Kevie-Kersemaekers A.M., Pfundt R., Mieloo H., van Essen T., de Vries B.B., Green A., Reardon W., Fryns J.P., Vermeesch J.R. Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies. Eur J Hum Genet 2011.
  11. Palomaki G.E., Kloza E.M., Lambert-Messerlian G.M., Haddow J.E., Neveux L.M., Ehrich M., van den Boom D., Bombard A.T., Deciu C., Grody W.W., Nelson S.F., Canick J.A. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet Med 2011; 13: 913-920.
  12. Spencer K., Kagan K.O., Nicolaides K.H. Screening for trisomy 21 in twin pregnancies in the first trimester: an update of the impact of chorionicity on maternal serum markers. Prenat Diagn 2008; 28: 49-52.
  13. Stankiewicz P., Beaudet A.L. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 2007; 17: 182-192.
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  16. Van den Hof M.C., Wilson R.D. Diagnostic Imaging Committee, Society of Obstetricians and Gynaecologists of Canada; Genetics Committee, Society of Obstetricians and Gynaecologists of Canada. Fetal soft markers in obstetric ultrasound. J Obstet Gynaecol Can 2005; 27: 592-636.
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