ABSTRACT
BACKGROUND: Recurrent reproductive failure is a global health issue affecting a significant number of women. Thrombophilias have been implicated as a possible cause. Inherited thrombophilias include a single nucleotide variant on factor V Leiden and prothrombin. OBJECTIVE: The aim of this study was to evaluate the association between the following single nucleotide variants: factor V Leiden (c.1601G>A), the prothrombin gene (c.*97G>A) and the reproductive failure in the Polish population. METHODS: The study was conducted in a group of 545 patients with recurrent pregnancy loss, RPL (≥2 miscarriages), and in a group of 641 patients with infertility. The distribution of genotypes for the selected variants were determined by RFLP-PCR and by the real-time PCR method. RESULTS: A variant of the F5 gene was found in 5.14% of patients with RPL and in 6.08% of infertile women. A variant of the F2 gene was identified in 0.73% of patients with RPL and in 2.03% of women with infertility. The frequency in the study groups did not differ from that in the general population. No association between the studied variants of the F5 gene or the F2 gene and the predisposition to reproductive wastage was found. CONCLUSIONS: Recommendations for routine thrombophilia testing in women with recurrent miscarriages should be revisited. The decision regarding testing should be made individually depending on additional factors indicating an increased risk of venous thromboembolism.
ABSTRACT
OBJECTIVES: Recurrent reproductive loss (RPL) is a global health issue affecting a significant number of women. Approximately half of miscarriages have an unexplained etiology. Familial aggregation and twins studies prove that some cases of the RPL could have a genetic background. Recent evidences suggest that cytokines (e.g. IL-6, TNF alpha or TGF beta) and matrix metalloproteinases (MMP) are important for maintenance of pregnancy. Single gene polymorphisms (SNP), affecting these proteins production or their function may predispose to the loss of the pregnancy. The aim of this study was to evaluate the association between the following polymorphisms of IL6 (rs1800795), TNF (rs1800629), TGFB1 (rs1800471), MMP1 (rs1799750), MMP2 (rs2285053 and rs243865), MMP3 (rs35068180), MMP9 (rs3918242) and the recurrent pregnancy loss in polish population. MATERIAL AND METHODS: Study subjects comprised of 67 patients with a history of recurrent pregnancy loss (≥ 2 miscarriages in history) and 75 controls. The distribution of genotypes for selected polymorphisms were determined by RFLP-PCR. RESULTS: Maternal genotypes GG TNF, or 5A/5A MMP3 may be associated with the recurrent pregnancy loss. No association between the IL6, TGFB1, MMP1, MMP2, or MMP9 studied polymorphisms and the predisposition to miscarriage was found. CONCLUSIONS: This study demonstrated a possible association between rs1800629 TNF, rs35068180 MMP3 polymorphisms and recurrent pregnancy loss.
ABSTRACT
This case report describes a 40-year-old woman, primigravida. On 13,3 weeks of gestation we diagnosed an abnormal flow pattern in the umbilical artery and abnormal hyperechogenic structure in fetal abdomen. In next sonographic examination on 16 weeks of gestation we diagnosed ventriculomegaly and ahydramnion. We also observed spina bifida, hyperechogenic kidneys, abnormal flow pattern in the umbilical vein and pulmonary valve insufficiency. We performed genetic amniocentesis. We observed complete trisomy in cytogenetic examinations. The woman opted for an elective TOP according to the Polish Abortion Act on 20 weeks of gestation.
Subject(s)
Abnormalities, Multiple/diagnostic imaging , Chromosomes, Human, Pair 9 , Trisomy/diagnosis , Ultrasonography, Prenatal , Abortion, Habitual , Adult , Female , Humans , PregnancyABSTRACT
OBJECTIVES: To determine whether it is fetal blood and not with mother blood in question. DESIGN: We discuss the "Apt test" results which examines the fetal hemoglobin in blood samples obtained by genetic cordocentesis. This material was used to elaborate the fetal cariotypes. MATERIALS AND METHODS: 106 samples of blood samples obtained by genetic cordocentesis were examined. Examination of each cordocentesis blood sample intended for genetic tests by means of a test estimating fetal hemoglobin (HbF). In each case the estimation was independently done by means of the Kleihauer-Betke method. RESULTS: The obtained results have evidenced the full usefulness of the "APT test" in genetic cordocentesis. CONCLUSIONS: The ATP test allows to estimate the HbF in the analysed sample of fetal blood in a course of few seconds.
