FIND ARTICLE

Volume: 
Supplement: 
18
Date of issue: 

A review of the genetic aspects of miscarriage in females in the form of : I. disorders kariotypowych cytogenetically evaluated in terms of chromosomes and II. molecular defects for one or a few genes evaluated DNA analysis technique . I. disorders kariotypowych on both autosomes and sex were distinguished : 1) the lethal disorder regardless of gender occur : a) during preimplantation , which affects about 25 % of fetuses , the size is based primarily on research in the context of IVF -ET , b) in the first trimester of pregnancy, when about 5% of aborted fetuses exhibit chromosomal anomalies , among which half are trisomies , while triploidy and monosomy X does not exceed 10 %, while tetraploidia ? 2.5% c) in the second trimester of the first pregnancy ? then 2.5% is recorded for genetic reasons , including up to 20 % on chromosomes d) recurrent miscarriages with genetic disorders in about 3 % of all pregnancies , 2) disorders of the male lethal such as Rett syndrome and incontinentia pigmenti and 3 ) genetic disorders trophoblast on a complete molar pregnancy or choriocarcinoma limited mosaicism . II. Mutations molecular concern: 1 ) hemostasis disorders that cause loss of pregnancies as a result of increased intravascular mainly within the trophoblast and placenta , where it is reported mutations within : a) Factor V Leiden ( G1691A ) and b) Factor II ( prothrombin ) in 3 ? region ( G20210A ), 2) hypercystynurią related disorders , such as: a ) metylenoczterohydrofoliowej reductase gene ( C677 - > T) , b) an autosomal inherited deficiency of cystathionine synthase b- , and 3 ) the alleles of mannose -binding protein gene which causes loss of inactivation of pathogenic microorganisms and inflammatory background abortions

Author of the article: 

The Editorial Board
Andrzej Łukaszyk - przewodniczący, Zofia Bielańska-Osuchowska, Szczepan Biliński, Mieczysław Chorąży, Aleksander Koj, Włodzimierz Korochoda, Leszek Kuźnicki, Aleksandra Stojałowska, Lech Wojtczak

Editorial address:
Katedra i Zakład Histologii i Embriologii Uniwersytetu Medycznego w Poznaniu, ul. Święcickiego 6, 60-781 Poznań, tel. +48 61 8546453, fax. +48 61 8546440, email: mnowicki@ump.edu.pl

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