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Associations of recurrent miscarriages with chromosomal abnormalities, thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia
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 da...
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Published in: | BMC medical genetics 2016-10, Vol.17 (Suppl 1), p.69, Article 69 |
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creator | Turki, Rola F Assidi, Mourad Banni, Huda A Zahed, Hanan A Karim, Sajjad Schulten, Hans-Juergen Abu-Elmagd, Muhammad Rouzi, Abdulrahim A Bajouh, Osama Jamal, Hassan S Al-Qahtani, Mohammed H Abuzenadah, Adel M |
description | 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.
Cytogenetic analysis of 171 consent patients with RPL was performed by the standard method of 72-h lymphocyte culture and GTG banding. Allelic polymorphisms of three thrombophilic genes (Factor V Leiden, Prothrombin A20210G, MTHFR C677T) were performed using PCR-RFLP (restriction fragment length polymorphism) and gel electrophoresis.
Data analysis revealed that 7.6 % of patients were carrier of numerical or structural chromosomal abnormalities. A high rate of translocations (46 %) was associated to increased incidence of RPL. A significant correlation between consanguineous RPL patients and chromosomal abnormalities (P |
doi_str_mv | 10.1186/s12881-016-0331-1 |
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Cytogenetic analysis of 171 consent patients with RPL was performed by the standard method of 72-h lymphocyte culture and GTG banding. Allelic polymorphisms of three thrombophilic genes (Factor V Leiden, Prothrombin A20210G, MTHFR C677T) were performed using PCR-RFLP (restriction fragment length polymorphism) and gel electrophoresis.
Data analysis revealed that 7.6 % of patients were carrier of numerical or structural chromosomal abnormalities. A high rate of translocations (46 %) was associated to increased incidence of RPL. A significant correlation between consanguineous RPL patients and chromosomal abnormalities (P < 0.05) was found. Both Factor V Leiden and Prothrombin A20210G allelic polymorphisms were significantly associated with a higher prevalence of RPL.
This study demonstrated a strong association between RPL and the prevalence of chromosomal abnormalities and inherited thrombophilia. Given the high rate of consanguineous marriages in the Saudi population, these results underline the importance of systematic cytogenetic investigation and genetic counseling preferably at the premarital stage or at least during early pregnancy phase through preimplantation genetic diagnosis (PGD).</description><identifier>ISSN: 1471-2350</identifier><identifier>EISSN: 1471-2350</identifier><identifier>DOI: 10.1186/s12881-016-0331-1</identifier><identifier>PMID: 27766963</identifier><language>eng</language><publisher>England: BioMed Central</publisher><subject>Abortion, Habitual - etiology ; Abortion, Habitual - genetics ; Adolescent ; Adult ; Alleles ; Chromosome Aberrations ; Chromosomes ; Consanguinity ; Embryos ; Enzymes ; Factor V - genetics ; Families & family life ; Family planning ; Female ; Genes ; Humans ; Lymphocytes - cytology ; Lymphocytes - metabolism ; Male ; Methylenetetrahydrofolate Reductase (NADPH2) - genetics ; Middle Aged ; Miscarriage ; Patients ; Placental abruption ; Polymorphism, Genetic ; Pregnancy ; Prothrombin - genetics ; Reproductive health ; Risk Factors ; Saudi Arabia ; Thrombophilia - complications ; Thrombophilia - diagnosis ; Thrombophilia - genetics ; Translocation, Genetic ; Womens health ; Young Adult</subject><ispartof>BMC medical genetics, 2016-10, Vol.17 (Suppl 1), p.69, Article 69</ispartof><rights>Copyright BioMed Central 2016</rights><rights>The Author(s). 2016</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c427t-bac317ed1937de6a4bc1b6290085e50bae49809ee74672b17133305f72a2450f3</citedby><cites>FETCH-LOGICAL-c427t-bac317ed1937de6a4bc1b6290085e50bae49809ee74672b17133305f72a2450f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073987/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/1834991624?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,315,733,786,790,891,25783,27957,27958,37047,44625,53827,53829</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27766963$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Turki, Rola F</creatorcontrib><creatorcontrib>Assidi, Mourad</creatorcontrib><creatorcontrib>Banni, Huda A</creatorcontrib><creatorcontrib>Zahed, Hanan A</creatorcontrib><creatorcontrib>Karim, Sajjad</creatorcontrib><creatorcontrib>Schulten, Hans-Juergen</creatorcontrib><creatorcontrib>Abu-Elmagd, Muhammad</creatorcontrib><creatorcontrib>Rouzi, Abdulrahim A</creatorcontrib><creatorcontrib>Bajouh, Osama</creatorcontrib><creatorcontrib>Jamal, Hassan S</creatorcontrib><creatorcontrib>Al-Qahtani, Mohammed H</creatorcontrib><creatorcontrib>Abuzenadah, Adel M</creatorcontrib><title>Associations of recurrent miscarriages with chromosomal abnormalities, thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia</title><title>BMC medical genetics</title><addtitle>BMC Med Genet</addtitle><description>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.
Cytogenetic analysis of 171 consent patients with RPL was performed by the standard method of 72-h lymphocyte culture and GTG banding. Allelic polymorphisms of three thrombophilic genes (Factor V Leiden, Prothrombin A20210G, MTHFR C677T) were performed using PCR-RFLP (restriction fragment length polymorphism) and gel electrophoresis.
Data analysis revealed that 7.6 % of patients were carrier of numerical or structural chromosomal abnormalities. A high rate of translocations (46 %) was associated to increased incidence of RPL. A significant correlation between consanguineous RPL patients and chromosomal abnormalities (P < 0.05) was found. Both Factor V Leiden and Prothrombin A20210G allelic polymorphisms were significantly associated with a higher prevalence of RPL.
This study demonstrated a strong association between RPL and the prevalence of chromosomal abnormalities and inherited thrombophilia. Given the high rate of consanguineous marriages in the Saudi population, these results underline the importance of systematic cytogenetic investigation and genetic counseling preferably at the premarital stage or at least during early pregnancy phase through preimplantation genetic diagnosis (PGD).</description><subject>Abortion, Habitual - etiology</subject><subject>Abortion, Habitual - genetics</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Alleles</subject><subject>Chromosome Aberrations</subject><subject>Chromosomes</subject><subject>Consanguinity</subject><subject>Embryos</subject><subject>Enzymes</subject><subject>Factor V - genetics</subject><subject>Families & family life</subject><subject>Family planning</subject><subject>Female</subject><subject>Genes</subject><subject>Humans</subject><subject>Lymphocytes - cytology</subject><subject>Lymphocytes - metabolism</subject><subject>Male</subject><subject>Methylenetetrahydrofolate Reductase (NADPH2) - genetics</subject><subject>Middle Aged</subject><subject>Miscarriage</subject><subject>Patients</subject><subject>Placental abruption</subject><subject>Polymorphism, Genetic</subject><subject>Pregnancy</subject><subject>Prothrombin - genetics</subject><subject>Reproductive health</subject><subject>Risk Factors</subject><subject>Saudi Arabia</subject><subject>Thrombophilia - complications</subject><subject>Thrombophilia - diagnosis</subject><subject>Thrombophilia - genetics</subject><subject>Translocation, Genetic</subject><subject>Womens health</subject><subject>Young 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thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia</title><author>Turki, Rola F ; Assidi, Mourad ; Banni, Huda A ; Zahed, Hanan A ; Karim, Sajjad ; Schulten, Hans-Juergen ; Abu-Elmagd, Muhammad ; Rouzi, Abdulrahim A ; Bajouh, Osama ; Jamal, Hassan S ; Al-Qahtani, Mohammed H ; Abuzenadah, Adel M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c427t-bac317ed1937de6a4bc1b6290085e50bae49809ee74672b17133305f72a2450f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Abortion, Habitual - etiology</topic><topic>Abortion, Habitual - genetics</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Alleles</topic><topic>Chromosome Aberrations</topic><topic>Chromosomes</topic><topic>Consanguinity</topic><topic>Embryos</topic><topic>Enzymes</topic><topic>Factor V - genetics</topic><topic>Families & family life</topic><topic>Family 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F</au><au>Assidi, Mourad</au><au>Banni, Huda A</au><au>Zahed, Hanan A</au><au>Karim, Sajjad</au><au>Schulten, Hans-Juergen</au><au>Abu-Elmagd, Muhammad</au><au>Rouzi, Abdulrahim A</au><au>Bajouh, Osama</au><au>Jamal, Hassan S</au><au>Al-Qahtani, Mohammed H</au><au>Abuzenadah, Adel M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Associations of recurrent miscarriages with chromosomal abnormalities, thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia</atitle><jtitle>BMC medical genetics</jtitle><addtitle>BMC Med Genet</addtitle><date>2016-10-10</date><risdate>2016</risdate><volume>17</volume><issue>Suppl 1</issue><spage>69</spage><pages>69-</pages><artnum>69</artnum><issn>1471-2350</issn><eissn>1471-2350</eissn><abstract>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.
Cytogenetic analysis of 171 consent patients with RPL was performed by the standard method of 72-h lymphocyte culture and GTG banding. Allelic polymorphisms of three thrombophilic genes (Factor V Leiden, Prothrombin A20210G, MTHFR C677T) were performed using PCR-RFLP (restriction fragment length polymorphism) and gel electrophoresis.
Data analysis revealed that 7.6 % of patients were carrier of numerical or structural chromosomal abnormalities. A high rate of translocations (46 %) was associated to increased incidence of RPL. A significant correlation between consanguineous RPL patients and chromosomal abnormalities (P < 0.05) was found. Both Factor V Leiden and Prothrombin A20210G allelic polymorphisms were significantly associated with a higher prevalence of RPL.
This study demonstrated a strong association between RPL and the prevalence of chromosomal abnormalities and inherited thrombophilia. Given the high rate of consanguineous marriages in the Saudi population, these results underline the importance of systematic cytogenetic investigation and genetic counseling preferably at the premarital stage or at least during early pregnancy phase through preimplantation genetic diagnosis (PGD).</abstract><cop>England</cop><pub>BioMed Central</pub><pmid>27766963</pmid><doi>10.1186/s12881-016-0331-1</doi><oa>free_for_read</oa></addata></record> |
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subjects | Abortion, Habitual - etiology Abortion, Habitual - genetics Adolescent Adult Alleles Chromosome Aberrations Chromosomes Consanguinity Embryos Enzymes Factor V - genetics Families & family life Family planning Female Genes Humans Lymphocytes - cytology Lymphocytes - metabolism Male Methylenetetrahydrofolate Reductase (NADPH2) - genetics Middle Aged Miscarriage Patients Placental abruption Polymorphism, Genetic Pregnancy Prothrombin - genetics Reproductive health Risk Factors Saudi Arabia Thrombophilia - complications Thrombophilia - diagnosis Thrombophilia - genetics Translocation, Genetic Womens health Young Adult |
title | Associations of recurrent miscarriages with chromosomal abnormalities, thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia |
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