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Translocation recurrent miscarriage

Bibhas Kar, Subbiah Sivamani, Shankar Kundavi, Thankam Rama Varma
Objective: The present study outlines three cases of a Robertsonian translocation and the consequences for the initiation of pregnancy by intracytoplasmic sperm injection (ICSI). Three case histories are presented documenting structural chromosome abnormalities in infertile males. Materials and Methods: Semen analysis was performed according to the World Health Organization guidelines. Chromosome analysis was performed using G-banding. Y chromosome microdeletions were detected by multiplex polymerase chain reaction assays...
April 2018: Journal of Obstetrics and Gynaecology of India
Rulin Dai, Yuan Pan, Yan Fu, Qian Liu, Weifeng Han, Ruizhi Liu
OBJECTIVE: This study aimed to investigate the roles of male genetic factors, including Y chromosome microdeletions and chromosomal heteromorphism, in recurrent pregnancy loss (RPL) in Northeast China. STUDY DESIGN: We evaluated 1072 male patients from Northeast China whose wives had a history of two or more consecutive miscarriages. We also selected 971 infertile and 200 fertile men as control groups. Semen analysis was carried out by computer-assisted sperm analysis...
May 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Vishali Kalotra, Meena Lall, Pushpa Saviour, Ishwar Chander Verma, Anupam Kaur
Background: About 15%-20% of couples get affected by recurrent miscarriages (RM) and chromosomal abnormality in one partner affects 3%-6% of RM couples. Aims: The present study aimed to determine the prevalence of cytogenetic anomalies in couples with RM. Settings and Design: A case-control study was undertaken, in which 243 couples who had experienced 2 or >2 miscarriages were investigated for chromosomal abnormalities and compared with 208 healthy, age-matched control couples who had at least one healthy live born and no history of miscarriages...
October 2017: Journal of Human Reproductive Sciences
Savanie Maithripala, Ursula Durland, Jon Havelock, Sonya Kashyap, Jason Hitkari, Justin Tan, Mahmoud Iews, Sarka Lisonkova, Mohamed A Bedaiwy
OBJECTIVE: Parental carriers of balanced structural chromosomal rearrangements such as reciprocal or Robertsonian translocations are at increased risk of recurrent pregnancy loss (RPL) due to the production of gametes with unbalanced non-viable chromosome variants. As a purported means of improving reproductive outcomes in this population, IVF and preimplantation genetic diagnosis (PGD) have been introduced as an alternative to natural conception and prenatal diagnosis. In this study, we evaluate the prevalence and treatment choices of couples with structural chromosomal rearrangement referred to a tertiary care RPL clinic...
December 21, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Jyun-Yuan Huang, Pei-Hsiu Yu, Yueh-Chun Li, Pao-Lin Kuo
BACKGROUND: Nucleotide-binding oligomerization domain (NACHT), leucine rich repeat (LRR) and pyrin domain (PYD) 7 containing protein, NLRP7, is a member of the NLR family which serves as innate immune sensors. Mutations and genetic variants of NLRP7 have been found in women with infertility associated conditions, such as recurrent hydatidiform mole, recurrent miscarriage, and preeclampsia. Decidualization of endometrial stromal cells is a hallmark of tissue remodeling to support embryo implantation and proper placental development...
August 15, 2017: Reproductive Biology and Endocrinology: RB&E
Brindha Arumugam, Chandra R Samuel, Santhiya Sathiyavedu Thyagarajan
Spontaneous abortion or loss of fetus prior to 20 weeks of gestation is observed in 15-20% of clinically recognized pregnancies. Recurrent Miscarriage (RM) is defined as three or more consecutive pregnancy losses and it affects 1-2% of women. Parental chromosomal rearrangements account for 2-5% of RM. This report describes two couples with a clinical history of RM who were subjected to conventional cytogenetic analysis to ascertain the chromosomal aetiology. Analysis of GTG-banded metaphases obtained from cultured lymphocytes at approximately 500-band resolution revealed balanced translocation in the female spouses as 46,XX,t(8;11)(p11...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
Neha Sudhir, Tajinder Kaur, Archana Beri, Anupam Kaur
Human reproduction is considered as the most inefficient event as ~15-20% of human pregnancies end in miscarriage and in the product of miscarriages, chromosomal anomalies are a common occurrence. The aim of the present retrospective study was to assess the frequency of chromosomal aberrations in couples with recurrent miscarriages in the region of Punjab and to compare with worldwide frequencies. In this study, a total of 440 cases were referred between the period 1995-2015. After lymphocyte culturing, giemsa-trypsin banding was done for each case to assess the chromosomal anomalies...
December 2016: Journal of Genetics
H G Zhang, R X Wang, Y Pan, J H Zhu, L T Xue, X Yang, R Z Liu
Cytogenetic analysis remains a powerful and cost-effective technology, and has wide applicability in genetic counseling for infertile males. Chromosomal rearrangements are thought to be one of the major genetic factors that influence male infertility. Some carriers with balanced reciprocal translocation have been identified as having oligozoospermia or azoospermia, and there is an association between balanced translocation and recurrent abortion. Researchers have reported the involvement of chromosome 4 translocations in male factor infertility and recurrent miscarriages...
December 2, 2016: Genetics and Molecular Research: GMR
R X Wang, H G Zhang, Y Pan, J H Zhu, F G Yue, L T Xue, R Z Liu
Balanced reciprocal translocations are associated with reproductive failure. Some reciprocal translocation carriers exhibit azoospermia or oligozoospermia, and an association exists between these chromosomal abnormalities and recurrent abortion. Previous reports have indicated the involvement of chromosome 7 translocations in male infertility and recurrent miscarriage. A translocation breakpoint can occur within an important gene, interrupting its structure and leading to male infertility. However, clinical characteristics resulting from chromosome 7 translocation breakpoints have not been studied...
October 17, 2016: Genetics and Molecular Research: GMR
R X Wang, H G Zhang, Y Pan, S Chen, F G Yue, D L Zhu, R Z Liu
Reciprocal translocation is closely associated with male infertility and recurrent miscarriages. Balanced reciprocal translocations associated with reproductive failures are predominantly observed on chromosome 1. Additionally, infertile male patients present a number of breakpoints throughout chromosome 1. A translocation breakpoint might interrupt the structure of an important gene, leading to male infertility. Here, we report the breakpoints on chromosome 1 translocation and the clinical features presented in carriers, to enable informed genetic counseling of these patients...
October 5, 2016: Genetics and Molecular Research: GMR
Ming-Ching Shen, Wan-Ju Wu, Po-Jen Cheng, Gwo-Chin Ma, Wen-Chu Li, Jui-Der Liou, Cheng-Shyong Chang, Wen-Hsiang Lin, Ming Chen
BACKGROUND: Heritable thrombophilias are assumed important etiologies for recurrent pregnancy loss. Unlike in the Caucasian populations, protein S and protein C deficiencies, instead of Factor V Lieden and Prothrombin mutations, are relatively common in the Han Chinese population. In this study we aimed to investigate the therapeutic effect of low molecular weight heparin upon women with recurrent pregnancy loss and documented protein S deficiency. METHODS: During 2011-2016, 68 women with recurrent pregnancy loss (RPL) and protein S deficiency (both the free antigen and function of protein S were reduced) were initially enrolled...
2016: Thrombosis Journal
Rola F Turki, Mourad Assidi, Huda A Banni, Hanan A Zahed, Sajjad Karim, Hans-Juergen Schulten, Muhammad Abu-Elmagd, Abdulrahim A Rouzi, Osama Bajouh, Hassan S Jamal, Mohammed H Al-Qahtani, Adel M Abuzenadah
BACKGROUND: Recurrent pregnancy loss (RPL) or recurrent spontaneous abortion is an obstetric complication that affects couples at reproductive age. Previous reports documented a clear relationship between parents with chromosomal abnormalities and both recurrent miscarriages and infertility. However, limited data is available from the Arabian Peninsula which is known by higher rates of consanguineous marriages. The main goal of this study was to determine the prevalence of chromosomal abnormalities and thrombophilic polymorphisms, and to correlate them with RPL and consanguinity in Saudi Arabia...
October 10, 2016: BMC Medical Genetics
Jyotsna Pundir, Laurice Magdalani, Tarek El-Toukhy
OBJECTIVE: To assess PGD outcome using FISH analysis in couples with a history of recurrent miscarriage associated with a parental carrier of reciprocal translocation. STUDY DESIGN: Couples in whom one partner was a carrier of a reciprocal translocation and had a history of two or more miscarriages and a low risk of a live born offspring with an unbalanced chromosomal rearrangement, underwent PGD treatment between 2000 and 2012. RESULTS: 91 couples started 171 fresh and 11 frozen PGD cycles...
August 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Keiichi Kato, Naoki Aoyama, Nami Kawasaki, Hiroko Hayashi, Tang Xiaohui, Takashi Abe, Tomoko Kuroda
Forty-six reciprocal and six Robertsonian translocation carrier couples who experienced recurrent pregnancy loss underwent fluorescence in situ hybridization-based preimplantation genetic diagnosis (PGD) for the presence of the two translocated chromosomes. Out of 52 couples, 17 (33%) were undergoing infertility treatment. In total, 239 PGD cycles as oocyte retrieval (OR) were applied. The transferrable rate of negatively diagnosed embryos at the cleavage stage was 26.3%; 71 embryos were transferred as single blastocysts...
August 2016: Journal of Human Genetics
Jiansheng Zhu, Hui Liu, Junxiang Tang, Muhammad Riaz Khan, Baolong Wang, Ihtisham Bukhari
BACKGROUND: Chromosomal abnormalities are the most common cause of recurrent abortions and miscarriages (RAM), but micro-variations on chromosomes causing RAM have never been previously studied. Single nucleotide polymorphisms (SNPs) are the single nucleotide variations frequently present at genome with the density of at least one common (>20% allele frequency) SNP per kilobase pair. It has already been reported that SNP array examination for chromosomal abnormalities has better performance than the conventional cytogenetic karyotyping...
2016: British Journal of Biomedical Science
H L Wang, B Wu, K M Guo, R H Tian
Infertility as a psychological problem has gained increasing attention. Male partners among infertile couples have elevated levels of psychological distress, which could affect semen quality, result in hormonal abnormalities, and increase the occurrence of early miscarriage. Infertile women are more vulnerable to psychological distress and require psychological support. Subfertile women who conceive after assisted reproduction have higher stress, anxiety, and depression levels. Psychological interventions have been shown to have beneficial effects on infertility patients...
April 27, 2016: Genetics and Molecular Research: GMR
Jiandong Shen, Wei Wu, Chao Gao, Humphrey Ochin, Dianyun Qu, Jiazi Xie, Li Gao, Yadong Zhou, Yugui Cui, Jiayin Liu
BACKGROUND: About 10 -15 % of all clinically recognized pregnancies result in spontaneous miscarriages, and chromosomal abnormalities are the most common reason. The conventional karyotyping on chorionic villus samples (CVSs) is limited by cell culture and its resolution. This study aimed at evaluating the efficiency of the application of high throughput genetic technology, including array comparative genomic hybridization (array CGH) and next generation sequencing (NGS) on the chromosomal copy number analysis of CVSs from early spontaneous miscarriages...
2016: Molecular Cytogenetics
Fu-Ju Tian, Chuan-Mei Qin, Xiao-Cui Li, Fan Wu, Xiao-Rui Liu, Wang-Ming Xu, Yi Lin
Fetal trophoblasts invade endometrium and establish a complex interaction with the maternal microenvironment during early pregnancy. However, the molecular mechanisms regulating trophoblast migration and invasion at the maternal-fetal interface remain poorly understood. Immunohistochemistry and immunoblotting have shown that stathmin-1 (STMN1) was down-regulated significantly in placental villi tissue and trophoblasts from patients with recurrent miscarriage. In vitro, overexpression of STMN1 promoted human trophoblast proliferation, migration, and invasion, whereas knockdown of STMN1 inhibited these processes...
October 2015: American Journal of Pathology
Shinichiro Ikuma, Takeshi Sato, Mayumi Sugiura-Ogasawara, Motoi Nagayoshi, Atsushi Tanaka, Satoru Takeda
BACKGROUND: Established causes of recurrent pregnancy loss (RPL) include antiphospholipid syndrome, uterine anomalies, parental chromosomal abnormalities, particularly translocations, and abnormal embryonic karyotypes. The number of centers performing preimplantation genetic diagnosis (PGD) for patients with translocations has steadily increased worldwide. The live birth rate with PGD was reported to be 27-54%. The live birth rate with natural conception was reported to be 37-63% on the first trial and 65-83% cumulatively...
2015: PloS One
Alexandre Rouen, Alinoë Lavillaureix, Capucine Hyon, Solveig Heide, Sylvain Clède, Richard Balet, Esther Kott, Nino Guy Cassuto, Jean-Pierre Siffroi
While chromosomal translocations are usually associated with a normal phenotype, they can still cause male infertility as well as recurrent miscarriages and fetal malformations related to their transmission in an unbalanced state. The distinction between balanced and unbalanced spermatozoa on morphological criteria is still unfeasible. However, we previously showed that: i) spermatozoa with an unbalanced content have a higher rate of DNA fragmentation; and ii) that density gradient centrifugation partially separates balanced from unbalanced sperm cells...
March 2015: Reproductive Biomedicine Online
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