Open AccessRange of the rare chromosomal abnormalities diagnosed prenatally at fetuses with increased nuchal translucency
Author(s) -
T. V. Zolotukhina,
Золотухина Татьяна Владимировна,
Yelena Vladimirovna Yudina,
Юдина Елена Владимировна,
N.V. Shilova,
Шилова Надежда Владимировна,
Marina E. Minzhenkova,
Миньженкова Марина Евгеньевна,
Yuliya Olegovna Kozlova,
Козлова Юлия Олеговна,
Ж. Г. Маркова,
Маркова Жанна Геннадиевна
Publication year - 2013
Publication title -
žurnalʺ akušerstva i ženskihʺ boleznej
Language(s) - English
Resource type - Journals
eISSN - 1684-0461
pISSN - 1683-9366
DOI - 10.17816/jowd62288-92
Subject(s) - medicine , dup , prenatal diagnosis , karyotype , nuchal translucency , fetus , cytogenetics , obstetrics , genetics , chromosome , pregnancy , gene duplication , biology , gene
The data provided are given as an illustration of molecular-cytogenetic approach for improvement of prenatal cytogenetic diagnosis of rare chromosomal abnormalities. The main indication for prenatal karyotyping discussed herein presented with increased nuchal translucency at 10–14 weeks of gestation. The following rare chromosomal abnormalities were revealed by FIASH: microdeletion 22q11.2, r(13)(p11q22), dup(8)(p23p12), del (13)(q34), invdupY(q10), two sSNMCs of 5 and 20 chromosomes origin. The importance of improving and systematizing of the ultrasonographic diagnosis of “mild” developmental defects, providing of the expanded prenatal molecular studies and contemporary FISH-technique application is emphasized.