Association of recurrent pregnancy loss with chromosomal abnormalities and hereditary thrombophilias.
Afr Health Sci
; 13(2): 447-52, 2013 Jun.
Article
en En
| MEDLINE
| ID: mdl-24235948
ABSTRACT
BACKGROUND:
Recurrent pregnancy loss (RPL) which is generally known as >3 consecutive pregnancy losses before 20 weeks' gestation is seen in 0.5-2% of women.OBJECTIVE:
To evaluate the association of parental and fetal chromosomal abnormalities with recurrent pregnancy loss in our area and to analyze the frequency of three types of hereditary thrombophilia's; (MTHFR C677T polymorphisms, FV Leiden G1691A mutation and Prothrombin (factor II) G20210A mutation) in these female patients.METHODS:
The present case-control retrospective study was performed between February 2007 and December 2011 on 495 couples, who had two or more consecutive pregnancy losses before 20 weeks' gestation. We used conventional cytogenetic analysis and polymerase chain reaction-restriction fragment length polymorphism.RESULTS:
Parental chromosomal abnormality was detected in 28 cases (2.8% of all cases, 5.7% of the couples) most of which (92.9%) were structural abnormalities. All of the structural abnormalities were balanced chromosomal translocations. Chromosomal analysis performed from the abortion materials detected a major chromosomal abnormality in 31.9% of the cases. The most frequently observed alteration in the hereditary thrombophilia genes was heterozygote mutation for the MTHFR C677T polymorphisms (n=55).CONCLUSION:
Balanced translocations are the most commonly detected chromosomal abnormalities in couples being evaluated for recurrent pregnancy loss and these patients are the best candidates for offering prenatal genetic diagnosis by the help of which there is a possibility of obtaining a better reproductive outcome.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Aborto Habitual
/
Aberraciones Cromosómicas
/
Trombofilia
Tipo de estudio:
Observational_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Afr Health Sci
Asunto de la revista:
MEDICINA
/
SERVICOS DE SAUDE
Año:
2013
Tipo del documento:
Article
País de afiliación:
Turquía