Effects of inherited trombophilia in women with recurrent pregnancy loss

WOS: 000297948600013PubMed ID: 22268272Purpose of Investigation: To evaluate the prevalence and effects of inherited thrombophilia caused by factor V Leiden, prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T mutations in women with recurrent pregnancy loss. Methods: A study group of 97 women with recurrent miscarriages and a control group of 71 healthy pregnant women were included in the study. Genotype analyses for factor V Leiden, prothrombin G20210A and MTHFR C677T polymorphisms were performed by real-time polymerase chain reaction (RT-PCR). Results: The frequency of factor V Leiden, prothrombin G20210A and MTHFR C677T mutations were similar in both the study and control group. There were eight patients (8.2%) who had more than one gene mutation in the study group and one patient in the control group (1.4%). This difference was not statistically significant. Study group patients (n = 97) were compared in terms of the number of miscarriages and the abortion week, in addition to being a carrier of factor V Leiden and MTHFR C677T gene mutations. No statistically significant correlation was found between being a factor V Leiden and MTHFR C677T mutation carrier with either the number of miscarriages or the abortion week. Conclusion: Factor V Leiden, prothrombin G20210A and MTHFR C677T gene mutations are not individually related with recurrent pregnancy loss. However, combined gene mutation status may be associated with recurrent miscarriages

PRENATAL DIAGNOSIS OF DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATED FROM CHROMOSOME 16 BY ARRAY-CGH.

Prenatal diagnosis of de novo supernumerary marker chromosome originated from chromosome 16 by array-CGH: A 33 years-old pregnant woman was referred for amniocentesis at 19 weeks of gestation due to abnormal serum biochemistry. A non-satellited, monocentric marker chromosome was observed with a frequency of 50% in cultured anmiocytes. Parental karyotypes were normal. The marker chromosome was found to be derived from chromosome 16 by FISH and array-CGH analysis. Genetic counseling was given to parents and the family decided to terminate the pregnancy. Dysmorphic findings including; low set ears, exophtalmos depressed nasal bridge, large mouth and lips, posture anomalies at the extremities were detected at autopsy

PRENATAL DIAGNOSIS OF DE NOVO PERICENTRIC INVERSION INV(2)(p11.2z13).

Prenatal diagnosis of de novo pericentric inversion inv(2)(p11.2q13): We here report a prenatal case with de novo pericentric inversion inv(2)(p11.2q13). A 20-years-old G1P0 woman was referred for amniocentesis at 17 weeks of gestation, because of a positive second trimester screening test for aneuploidy. A de novo pericentric inversion inv(2)(p11.2q13) was detected during conventional cytogenetic analysis. Array-CGH analysis of the fetus showed no subtle chromosomal imbalances at the breakpoints. Genetic counseling was given to the family and the family decided to continue the pregnancy. To our knowledge, our case is the third prenatally detected de novo case with inv(2)(p11.2q13), and also the first case in which molecular karyotyping analysis were also applied

Pregnancy-associated plasma protein A gene polymorphism in pregnant women with preeclampsia and intrauterine growth restriction

PubMed ID: 26520690Preeclampsia (PE) and intrauterine growth restriction (IUGR) are still among the most commonly researched titles in perinatology. To shed light on their etiology, new prevention and treatment strategies are the major targets of studies. In this study, we aimed to investigate the relation between gene polymorphism of one of the products of trophoblasts, pregnancy-associated plasma protein A (PAPP-A) and PE/IUGR.A total of 147 women (IUGR, n = 61; PE, n = 47; IUGR + PE, n = 37; eclampsia, n = 2) were compared with 103 controls with respect to the sequencing of exon 14 of the PAPP-A gene to detect (rs7020782) polymorphism. Genotypes "AA" and "CC" were given in the event of A or C allele homozygosity and "AC" in A and C allele heterozygosity. Our findings revealed that the rate of AA, CC homozygotes, and AC heterozygotes did not differ between groups. Moreover, there was no difference in the distribution of PAPP-A genotypes among the patients with IUGR, PE, IUGR + PE, or eclampsia. Finally, birth weight, rate of the presence of proteinuria, and total protein excretion on 24-hour urine were similar in the subgroups of AA, AC, and CC genotypes in the study group. Our study demonstrated no association between PAPP-A gene rs7020782 polymorphism and PE/IUGR. © 2015, Kaohsiung Medical University. Published by Elsevier Taiwan LLC. All rights reserved.This work was supported by the Research Foundation of Ege University. -