A New Stepwise Molecular Work-Up After Chorionic Villi Sampling in Women With an Early Pregnancy Loss

Objective: To explore the use of a new molecular work-up based on the stepwise use of Quantitative Fluorescence PCR (QF-PCR) extended to eight chromosomes and single nucleotide polymorphism array (SNP-array) in chorionic villi obtained by chorionic villi sampling (CVS) offered to women experiencing an early pregnancy loss.Methods: During a 3-year period (January 2016–December 2018), CVS was offered to women experiencing an early pregnancy loss before the evacuation of the products of conception (POC) to retrieve chorionic villi, irrespective of the number of previous losses. A new molecular work-up was prospectively assayed encompassing a first QF-PCR round (with the 21, 18, 13, 7, X, and Y chromosomes), a second QF-PCR round (with the 15, 16, and 22 chromosomes), and a high resolution SNP-array in those cases with normal QF-PCR results. A control group in which POC were collected after surgical uterine evacuation was used to be compared with the intervention group.Results: Around 459 women were enrolled in the intervention group (CVS) and 185 in the control group (POC after uterine evacuation). The QF-PCR testing success rates were significantly higher in the intervention group (98.5%: 452/459) as compared to the control group (74%: 109/147; p < 0.001), while the chromosomal anomaly rate at the two QF-PCR rounds was similar between the two groups: 52% (234/452) in the intervention and 42% (46/109) in the control group (p = 0.073). The SNP-array was performed in 202 QF-PCR normal samples of the intervention group and revealed 67 (33%) atypical chromosomal anomalies (>10 Mb), 5 (2.5%) submicroscopic pathogenic copy number variants, and 2 (1%) variant of uncertain significance (VOUS).Conclusion: Eighty-two percent of women experiencing an early pregnancy loss opted for a CVS. The testing success rates were higher in the intervention group (CVS; 98%) as compared to the control group (POC; 74%). The overall yields were 52% by QF-PCR (including three complete hydatiform moles), and 16% by SNP-array, including 15% atypical chromosomal anomalies and 1.1% submicroscopic pathogenic copy number variants.

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OC06.02: A new molecular work‐up for early pregnancy losses based on QF‐PCR and SNP‐array in chorionic villi is more accurate than karyotyping

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.20457 ◽

2019 ◽

Vol 54 (S1) ◽

pp. 14-14

Author(s):

L. Benitez Quintanilla ◽

M. Pauta ◽

A. Soler ◽

L. Rodriguez‐Revenga ◽

M. Grande ◽

...

Keyword(s):

Early Pregnancy ◽

Snp Array ◽

Chorionic Villi ◽

Work Up

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Chorionic villi carbohydrate determinants study in early pregnancy loss.

Morphologia ◽

10.26641/1997-9665.2016.3.170-175 ◽

2016 ◽

Vol 10 (3) ◽

pp. 170-175

Author(s):

I. Zastavnyy ◽

A. Yashchenko ◽

I. Tkach

Keyword(s):

Early Pregnancy ◽

Pregnancy Loss ◽

Early Pregnancy Loss ◽

Chorionic Villi

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EFFECTIVENESS OF METFORMIN IN PREVENTING EARLY PREGNANCY LOSS IN WOMEN WITH POLYCYSTIC OVARIAN SYNDROME

10.36106/ijsr/2002182 ◽

2019 ◽

pp. 1-4

Author(s):

Deepali Janugade

Keyword(s):

Pregnant Women ◽

Early Pregnancy ◽

Pregnancy Loss ◽

Polycystic Ovary ◽

Free Testosterone ◽

Serum Glucose ◽

Control Group ◽

Early Pregnancy Loss ◽

Metformin Therapy ◽

Metformin Group

OBJECTIVE : To evaluate the effectiveness of metformin therapy in preventing early pregnancy loss in pregnant women with polycystic ovary syndrome (PCOS). MATERIALS AND METHODS : This is a prospective cohort study conducted in the Obstetric Department of Krishna Institute of Medical Sciences, Karad, Maharashtra, India for a period of 2 years. This study involved 100 nondiabetic pregnant women with PCOS. They were divided into two groups, namely, the group that received metformin throughout pregnancy (metformin group) and the group that got pregnant but, did not receive metformin (control group). A comparison was made between the two groups of patients with respect to certain basal characteristics (age, body mass index, previous obstetric outcome, serum glucose with free testosterone). Statistical analysis was performed using Chi-square test to compare the differences between the two groups. RESULTS : There were 50 patients who received metformin during pregnancy (metformin group) compared with 50 patients who did not receive the treatment (control group). The rate of early pregnancy loss in the metformin group was 10% (5/50) compared with 36% (18/50) in the control group (p < 0.001). For patients in the metformin group with a history of previous miscarriage, the rate of pregnancy loss was 45% (35 cases/50 pregnancies). CONCLUSION : Metformin therapy in pregnant women with PCOS was associated with a significant reduction in the rate of early pregnancy loss

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Ассоциация полиморфизма Т657С гена SYCP3 с потерей беременности на ранних сроках у женщин русской национальности

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2019.12.21-24 ◽

2019 ◽

pp. 21-24

Author(s):

A.A.M. Ahmed ◽

F.U. Ramazanova ◽

O.B. Gigani ◽

M.M. Azova

Keyword(s):

Early Pregnancy ◽

Pregnancy Loss ◽

Risk Estimation ◽

Standard Procedure ◽

Polymerase Chain Reaction Method ◽

Control Group ◽

Early Pregnancy Loss ◽

Significant Difference ◽

Sycp3 Gene ◽

Chromosome Nondisjunction

Background. Aneuploidy is a consequence of the chromosome nondisjunction. Majority of aneuploid embryos die in utero between the 6th and 10th week, resulting in early pregnancy loss of approximately 15% of all clinically recognized pregnancies. SYCP3 plays an important role in pairing and recombination of homologous chromosomes in meiosis I, and it has been shown that the lack of this gene leads to sterility in male and subfertility in female mice due to chromosome nondisjunction. So SYCP3 is a candidate gene to evaluate the hypothesis of fetal aneuploidy arisen from meiosis gene mutations as a cause for human early pregnancy loss. Methods. In our study, the SYCP3 T657C polymorphism in 100 Russian women with early pregnancy loss (EPL) that were classified into 2 subgroups: with sporadic pregnancy loss (SPL, n=50) and recurrent pregnancy loss (RPL, n=50), as well as 56 normal fertile women (control), was examined to determine whether there is an association between the polymorphism and early pregnancy loss in Russian population. Genomic DNA was extracted from peripheral blood samples using the standard procedure of a commercially available kit. Genotyping of SYCP3 gene was determined by allele-specific polymerase chain reaction method. Data were analyzed using SPSS statistical software version 22. The chi-square test and Fisher’s exact test were used to compare genotype and allele frequencies between analyzed groups. The odds ratio (OR) and 95% confidence intervals (CI) were used for risk estimation. Results. Frequency of the heterozygous genotype (CT) was significantly higher in the group of women with early pregnancy loss as well as in women with sporadic pregnancy loss (p<0.05). In women with RPL, we found that the frequency of this genotype tended to increase but could not make a significant difference when compared with the control group. Conclusion. Our findings postulate that the T657C polymorphism of the SYCP3 gene is possibly associated with a sporadic early pregnancy loss. Актуальность. Анеуплоидия возникает вследствие нарушения расхождения хромосом, и большинство анеуплоидных эмбрионов погибают до 10 недели гестации, что приводит к потере на ранних сроках приблизительно 15% клинически диагностированных беременностей. Белок SYCP3 играет важную роль в конъюгации и рекомбинации гомологичных хромосом в первом мейотическом делении. Было показано, что отсутствие гена данного белка у мышей приводит к стерильности самцов и снижению фертильности самок вследствие нарушения расхождения хромосом. В этой связи SYCP3 можно рассматривать в качестве кандидатного гена для оценки гипотезы о фетальной анеуплоидии, возникающей в результате мутаций генов, продукты которых участвуют в мейозе, и ведущей к ранним репродуктивным потерям. Методы. В представленной работе был исследован полиморфизм Т657С гена SYCP3 у 100 женщин русской национальности с ранними репродуктивными потерями, подразделенных на две подгруппы: со спорадической потерей беременности (n=50) и привычным невынашиванием (n=50), а также у 56 фертильных женщин (контроль). Целью работы явилось изучение наличия ассоциации между данным полиморфизмом и ранними репродуктивными потерями в русской популяции. Геномная ДНК была выделена из периферической крови, генотипирование выполнялось с использованием аллель-специфической полимеразной цепной реакции. Для сравнения частот генов и генотипов в изучаемых группах применялись критерий Хи-квадрат и точный тест Фишера, для определения которых использовалось программное обеспечение SPSS Statistics, версия 22. Оно также было использовано для расчета отношения шансов (OR) и 95% доверительного интервала. Результаты. Частота гетерозиготного генотипа СТ была достоверно выше в группе женщин с ранними репродуктивными потерями и, в частности, в подгруппе со спорадической потерей беременности (р<0,05). Несмотря на тенденцию к увеличению частоты данного генотипа у женщин с привычным невынашиванием, статистически значимых отличий от контроля обнаружено не было. Заключение. Полученные результаты позволяют предполагать наличие ассоциации между полиморфизмом Т657С гена SYCP3 и спорадической потерей беременности на ранних сроках.

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Incidence of Early Pregnancy Loss in Poly Cystic Ovary Syndrome Patients With /Without Metformin Therapy: A Comparative Study

Journal of Advances in Medicine and Medical Research ◽

10.9734/jammr/2020/v32i2430751 ◽

2020 ◽

pp. 55-62

Author(s):

Basma S. Ibrahem ◽

Amal A. El Syokar ◽

Ahmed M. Ossman ◽

Tarek M. El-Saba

Keyword(s):

Polycystic Ovary Syndrome ◽

Early Pregnancy ◽

Pregnancy Loss ◽

Polycystic Ovary ◽

Control Group ◽

Study Group ◽

Metformin Treatment ◽

Early Pregnancy Loss ◽

Ovary Syndrome ◽

Metformin Therapy

Background: The most prominent source of anovulatory infertility in the world is polycystic ovary syndrome. Getting pregnant these days has a larger risk of early maternal death than in the general population. It induces symptoms in about five and ten percent of women of reproductive age (12-45 years old). Women that are insulin tolerant are more prone to have Elevated Insulin levels, Polycystic OVARIES and Hyperandrogens. They are at risk for suboptimal reproductive activity attributable to compromising ovarian function and hormonal equilibrium. The aim of this research was to determine the prevalence of late pregnancy failure in women with Polycystic Ovary Syndrome (PCOS) taking metformin as compared to women who don't take it. Materials and Methods: This case control-controlled study included 100 females and divided in to two groups. Each group composed of 50 patients and the patients were distributed in each group by simple Randomization method. Results: There was no significant difference between control and study group regarding todescriptive data. Association between rate of pregnancy loss and metformin treatment early pregnancy loss was significantly frequent in control group than in study group with metformin treatment. Gestational age (weeks)at which pregnancy loss occurred is significantly higher in study group than in control group. The rate of early pregnancy loss among studied groups is significantly lower than in control group. Conclusion: Metformin therapy in pregnant women with polycystic ovary syndrome was associated with a significant reduction in the rate of early pregnancy loss. It was well tolerated by patients with a minimum of side effects. However, extended studies are required to evaluate its effect on further pregnancy complications and fetal outcomes.

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