scholarly journals Runs of homozygosity in spontaneous abortions from families with recurrent pregnancy loss

2019 ◽  
Vol 23 (2) ◽  
pp. 244-249
Author(s):  
N. A. Skryabin ◽  
S. A. Vasilyev ◽  
T. V. Nikitina ◽  
D. I. Zhigalina ◽  
R. R. Savchenko ◽  
...  

Recurrent pregnancy loss (RPL) is a severe reproductive pathology with a significant component of unexplained etiology. Extended homozygous regions as a possible etiological factor for RPL were sought in the genomes of embryos. Twenty-two paired first-trimester spontaneously aborted embryos from eleven women with recurrent miscarriage were analyzed. All embryos had normal karyotypes according to metaphase karyotyping and conventional comparative genomic hybridization. SurePrint G3 Human CGH + SNP 4 × 180K microarrays (Agilent Technologies) were used to search for homozygous regions. As a result, 39 runs of homozygosity (ROH) were identified in extraembryonic tissues of 15 abortuses. Verification of recurrent homozygous regions was performed by Sanger sequencing. The presence of occasional heterozygous SNPs was shown in 25 extended ROHs, which may indicate that they did not arise de novo but were inherited from parents. In the course of inheritance in a series of generations, they may accumulate mutations, leading to heterozygosity for several sites in the initially homozygous population-specific regions. Homozygotization of recessive mutations is one of the putative mechanisms of the influence of such inherited ROHs on RPL development. The high frequency of extended ROHs detected in the present study may point to a role of inbreeding in RPL etiology. Homozygous regions may also occur due to uniparental disomy, and abnormalities of genomic imprinting may be another mechanism responsible for the pathological manifestation of ROHs in embryogenesis. Indeed, five predicted imprinted genes were identified within ROHs according to the Geneimprint database: OBSCN, HIST3H2BB, LMX1B, CELF4, and FAM59A. This work reports the first finding of a high frequency of extended ROHs in spontaneously aborted embryos with normal karyotypes from families with RPL.

2018 ◽  
Author(s):  
Channing Burks ◽  
Mary D Stephenson ◽  
Danny J Schust

The objective of this review is to highlight central issues relating to recurrent pregnancy loss (RPL), including use of updated terminologies, updated criteria for initiating an RPL evaluation, and an evidence-based standard diagnostic evaluation. RPL is a condition characterized by repeated spontaneous demise of pregnancy. It is a multifactorial disorder that affects approximately 5% of couples in the general population who are trying to have a child. RPL should be defined as two or more pregnancy losses at any gestational age; these do not necessarily need to be consecutive. As 50 to 70% of pregnancy losses of less than 10 weeks gestational age are due to random numeric chromosome errors, we recommend chromosome testing of miscarriage tissues with the second and all subsequent miscarriages less than 10 weeks gestational age. If the second pregnancy loss is “unexplained,” meaning that the chromosome content is euploid (46,XX of pregnancy origin, 46,XY, or a balanced structural chromosomal rearrangement), then an RPL diagnostic evaluation is indicated. Despite a comprehensive evaluation, approximately 40% of couples with RPL will not have a specific etiologic factor identified. In these couples, as with all couples experiencing RPL, empirical management with close monitoring and supportive care during the first trimester is associated with encouraging subsequent live birth rates.   This review contains 10 figures, 5 tables and 57 references Key words: factors associated with recurrent pregnancy loss, idiopathic recurrent pregnancy loss, miscarriage chromosome testing, nonvisualized pregnancy loss, pregnancy of unknown location, recurrent miscarriage, recurrent pregnancy loss


Author(s):  
Dr Ashwini Bhaskar Pawar

 Recurrent Pregnancy Loss is an important reproductive health issue, “Garbha stravi vandhya” is a term used in ayurvedic Samhita’s for recurrent habitual abortion in first trimester. Recurrent pregnancy loss also defined as recurrent miscarriage is historically defined as sequence of three or more consecutive spontaneous abortions before 20weeks. Some however Consider Two or more as standard. It may be Primary or secondary.  (Having previous viable birth) This distressing problem is affecting approximately 1% of all women of reproductive age. The risk is increased with each successive abortion reaching over 30% after 3 consecutive cases. In this case Study, Interpretation of case is done on basics of ayurvedic diagnostics parameters and management is designed according to that. So Pachan and antenatal dilatory regimen with ayurvedic medicine where planned. During antenatal period combination of herb Suvarana kalpa, different types of medicated ghruta, Masanumasik Kashaya where used. There was uneventful antenatal period, Cesarean section was done. female baby with 3.3 kg was born. There was no any Neonatal complication.   KEY WORDS:  Recurrent pregnancy loss, Habitual abortion, Spontaneous abortion  


2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
J Malhotra ◽  
N Malhotra ◽  
N Malhotra

Abstract text Mullerian Anomalies are present in approximately 5% to 7% of the general population and the incidence is a little more in infertile and recurrent miscarriage women. Most of the recent studies have reported that the obstetric outcome is compromised in this group with greater risk of infertility, recurrent pregnancy loss, intrauterine growth retardation, preterm birth and many other obstetric complications, which may be individually related to the different types of Mullerian Anomalies. In this presentation, We are going to discuss on how the outcomes are different in the various Mullerian Anomalies depending upon the degree of the defects related to different complications with more profound defects. We will also discuss on how to optimize the pregnancy outcomes with various interventions and what the literature review supports. Trial registration number Study funding Funding source


Author(s):  
Abha Singh ◽  
Avinashi Kujur ◽  
Kalpana Rathore

Background: This study was aimed to know the demographic profile and categorizes the causes of RPL.Methods: This observational study was carried out in the department of obstetrics and gynecology, Pt. J.N.M. Medical College Raipur from Nov 2015-Sept 2016. Total 100 women were evaluated with history of RPL.Results: 100 women were recruited in our study. The incidence of primary RPL was more than secondary RPL. 48 % women had first trimester abortions. The identifiable causes accounted for 53% out of which anatomical defects were the commonest .Next were endocrinal factors (20%), and Genetic factors (1%),Immunological factors 7%., Medical causes were 3%. However, 47% were unexplained.Conclusions: Despite innumerable investigations, sometimes or rather most of the times, the etiology remains obscure. It is this group of women who become a challenge to manage. Ultimately, most effective therapy for women with unexplained RPL is antenatal counseling, psychological support and tender loving care.


Author(s):  
Indrani Mukhopadhyay ◽  
V. Pruthviraj ◽  
Rao P. S. ◽  
Manash Biswas

Background: Recurrent pregnancy loss (RPL) affects about 5% of women. High levels of homocysteine, termed hyperhomocysteinemia, have been implicated in a number of pathologic processes in the venous and arterial vascular systems. Hyperhomocysteinemia in pregnant women has been associated with deep venous thrombosis, recurrent miscarriage, abruption placentae, preeclampsia, neural tube defects, and fetal growth restriction. This study aims at determining association between hyperhomocysteinemia and recurrent pregnancy loss and also association of folic acid (vitamin B 9) and vitamin B 12 with hyperhomocysteinemia (HHCY), in reducing its levels in the body and thus preventing obstetric complications.Methods: A prospective study of pregnant mothers booked at our hospital over a period of two years with history of unexplained RPL were included in the study and their serum homocysteine levels were assessed. Hyperhomocysteinemia (>12 micromol/l) patients were treated with folic acid and vitamin B12 supplements and homocysteine levels were assessed again, post treatment.Results: Out of the 100 patients who were assessed, 32% of RPL patients had hyperhomocysteinemia. Folic acid and VitB12 supplementation reduced homocysteine levels and this was found to be statistically significant.Conclusions: Hyperhomocysteinemia is associated with RPL. Vitamin supplementation to those with hyperhomocysteinemia, decreases homocysteine levels.


Author(s):  
Manuela Russu ◽  
Ruxandra Stănculescu ◽  
Maria Păun ◽  
Jan Andi Marin

ABSTRACT Objectives The objective of this prospective study was to analyze the effect of vaginal micronized progesterone (VMP) daily administrated in women with recurrent pregnancy loss, recurrent miscarriage, and/or preterm birth on neonatal outcomes. Methods In the treat group patients received 200 mg/day VMP (14 days/month, during the luteal phase) from preconception until completed 36 weeks of gestation. Women from the control group did not receive VPM treatment. Ultrasonographic examination was performed for gestational age confirmation, assessment of cervical length and congenital malformation screening in fetus. Results Compared with the control group, the women from the VMP group had a decreased time to conception, lower frequency of miscarriages and higher gestational age at delivery. Newborns from mothers treated with VPM had significantly higher birth weight than newborns from the control group of mothers (p = 0.022). The frequency of stillbirths and the need for oxygen supplementation and mechanical ventilation was lower in the newborns from treated group of mother compared with control group. Conclusion Vaginal micronized progesterone 200 mg/day from preconception to 36 weeks of gestation in women with recurrent pregnancy loss reduced the frequency of miscarriages, stillbirths, preterm births and neonatal morbidity. How to cite this article Russu M, Stănculescu R, Păun M, Marin JA. Neonatal Outcomes after Preconceptional Vaginal Micronized Progesterone Administration in Recurrent Pregnancy Loss: Five Years Prospective Study. Donald School J Ultrasound Obstet Gynecol 2014;8(2):128-133.


2017 ◽  
Vol 5 (4) ◽  
pp. 15-19

Recurrent pregnancy loss (RPL) is a heterogeneous reproductive problem with multiple aetiologies and contributing factors. It becomes quite challenging to form a work-up to detect the cause of RPL in the early months as a continuation of pregnancy involves many factors. In more than half of all recurrent miscarriage the cause still remains uncertain. Thrombophilia has been identified in about 50% of women with recurrent miscarriage and thromboprophylaxis has been suggested as an option of treatment.. In obstetric APLA Syndrome (Antiphospholipid antibody) the combination of aspirin and heparin has improved outcomes. The use of low molecular weight heparin (LMWH) has become a common practise in women with inherited thrombophilia and also those with unexplained miscarriage to help safeguard the ongoing pregnancy. To evaluate if there is any effectiveness of low molecular weight heparin (enoxaparin) in women with a history of at least two miscarriages without any apparent aetiology for recurrent pregnancy loss. A prospective randomised controlled study held at Vivekananda Institute of Medical Sciences, Kolkata from August 2015- July 2018. The study assessed the effect of anticoagulant treatment on the live-birth rate (primary outcome) in 80 antenatal women with a history of at least two miscarriages without any apparent causes. Interventions included low molecular weight heparin administration in one group and the other one was not given any anti-coagulant therapy. Similar live birth rates were observed with enoxaparin and the patients who did not receive any anti-coagulant, respectively 84% and 82% (RR 0.97, 95% CI 0.81 to 1.16). There were no significant differences in live birth weight and other pregnancy outcomes between the two groups. Therefore, there is no evidence to support any incremental benefit of adding LMWH to the treatment as a routine in unexplained cases of recurrent pregnancy loss.


2018 ◽  
Vol 7 (3) ◽  
pp. 306-312
Author(s):  
Fatima Muhammad Ibrahim ◽  
Shamsa Abdulmanan Abdul Rahman Al Awar ◽  
Nahid Dehghan Nayeri ◽  
Moamar Al-Jefou ◽  
Fahimeh Ranjbar ◽  
...  

Objectives: The aim of this study was to evaluate the perception and experience of recurrent pregnancy loss through the perspective of women in the United Arab Emirates (UAE). Materials and Methods: This qualitative study was conducted in 2017 and 12 women with recurrent miscarriage were interviewed, using purposive sampling method, in the Medical and Health Clinic of the Department of Obstetrics and Gynecology under the supervision of the UAE Medical University. Transcribed interviews were analyzed using conventional content analysis. Results: Data analysis led to the extraction of three main themes, including endless pregnancy, thirst for support and affirmation, and religious beliefs. Conclusions: Overall, the experience of recurrent miscarriage means endless pregnancy from Arab women’s perspective, which awakened a thirst for support and affirmation. In this regard, the utilization of religious beliefs greatly reduced their pain. Therefore, knowing the dangers and consequences of recurrent miscarriages in Arab women, adopting preventative measures, and improving the quality of care in these vulnerable women require special attention.


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