Chromosomal abnormalities in spontaneous abortion after assisted reproductive treatment.

Abstract:

BACKGROUND:We evaluated cytogenetic results occurring with first trimester pregnancy loss, and assessed the type and frequency of chromosomal abnormalities after assisted reproductive treatment (ART) and compared them with a control group. We also compared the rate of chromosomal abnormalities according to infertility causes in ICSI group. METHODS:A retrospective cohort analysis was made of all patients who were referred to the Genetics Laboratory of Fertility Center of CHA Gangnam Medical Center from 2005 to 2009 because of clinical abortion with a subsequent dilation and evacuation (D&E) performed, and patients were grouped by type of conception as follows: conventional IVF (in vitro fertilization) (n = 114), ICSI (intracytoplasmic sperm injection) (n = 140), and control (natural conception or intrauterine insemination [IUI]) (n = 128). Statistical analysis was performed using SPSS software. RESULTS:A total 406 specimens were referred to laboratory, ten abortuses were excluded, and in 14 cases, we did not get any spontaneous metaphase, chromosomal constitutions of 382 specimens were successfully obtained with conventional cytogenetic methods. Overall, 52.62% of the miscarriages were found to be cytogenetically abnormal among all patients, the frequency was 48.4% in the control group, 54.3% of miscarriages after ICSI and 55.3% after conventional IVF (p = 0.503). The most prevalent abnormalities were autosomal trisomy, however, nine (11.69%) sex chromosome aneuploidy were noted in the ICSI group vs. four (6.45%) and two (3.23%) cases in the conventional IVF group and control group. We compared chromosomal abnormalities of miscarriages after ICSI according to infertility factor. 55.71% underwent ICSI due to male factors, 44.29% due to non-male factors. ICSI group having male factors showed significantly higher risk of chromosomal abnormalities than ICSI group having non-male factors (65.8% vs. 34.2%, p = 0.009, odds ratio = 1.529, 95% CI = 1.092-2.141). CONCLUSIONS:There is no increased risk of chromosomal abnormalities due to ART was found with the exception of a greater number of sex chromosomal abnormalities in the ICSI group with male factor infertility. Therefore, these alterations could be correlated with the underlying parental risk of abnormalities and not with the ICSI procedure itself.

journal_name

BMC Med Genet

journal_title

BMC medical genetics

authors

Kim JW,Lee WS,Yoon TK,Seok HH,Cho JH,Kim YS,Lyu SW,Shim SH

doi

10.1186/1471-2350-11-153

subject

Has Abstract

pub_date

2010-11-03 00:00:00

pages

153

issn

1471-2350

pii

1471-2350-11-153

journal_volume

11

pub_type

杂志文章
  • X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review.

    abstract:BACKGROUND:Congenital nystagmus (CN) and congenital cataracts are distinct eye diseases and are usually isolated. Cases with CN and congenital cataracts caused by different genes in one family have been rarely reported. CASE PRESENTATION:A 27-year-old man presented with CN and congenital cataracts and he underwent cat...

    journal_title:BMC medical genetics

    pub_type: 杂志文章,评审

    doi:10.1186/s12881-019-0780-4

    authors: Yan N,Xiao L,Hou C,Guo B,Fan W,Deng Y,Ma K

    更新日期:2019-03-19 00:00:00

  • Estrogen and progesterone-related gene variants and colorectal cancer risk in women.

    abstract:BACKGROUND:Observational studies and randomized trials have suggested that estrogens and/or progesterone may lower the risk for colorectal cancer. Inherited variation in the sex-hormone genes may be one mechanism by which sex hormones affect colorectal cancer, although data are limited. METHOD:We conducted a comprehen...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-12-78

    authors: Lin JH,Manson JE,Kraft P,Cochrane BB,Gunter MJ,Chlebowski RT,Zhang SM

    更新日期:2011-05-31 00:00:00

  • A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.

    abstract:BACKGROUND:N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NAT, responsible for acetylating ~ 40% of human proteins. Recently, NAA10 germline variants were found...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-019-0803-1

    authors: Ree R,Geithus AS,Tørring PM,Sørensen KP,Damkjær M,DDD study.,Lynch SA,Arnesen T

    更新日期:2019-06-07 00:00:00

  • "Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".

    abstract:BACKGROUND:Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in o...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-017-0474-8

    authors: Uysal F,Turkgenc B,Toksoy G,Bostan OM,Evke E,Uyguner O,Yakicier C,Kayserili H,Cil E,Temel SG

    更新日期:2017-10-16 00:00:00

  • Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing.

    abstract:BACKGROUND:Ring chromosomes are one category of structurally abnormal chromosomes that can lead to severe growth retardation and other clinical defects. Traditionally, their diagnosis and characterization has largely relied on conventional cytogenetics and fluorescence in situ hybridization, array-based comparative gen...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-015-0206-x

    authors: Ji X,Liang D,Sun R,Liu C,Ma D,Wang Y,Hu P,Xu Z

    更新日期:2015-07-30 00:00:00

  • A common polymorphism in NR1H2 (LXRbeta) is associated with preeclampsia.

    abstract:BACKGROUND:Preeclampsia is a frequent complication of pregnancy and a leading cause of perinatal mortality. Both genetic and environmental risk factors have been identified. Lipid metabolism, particularly cholesterol metabolism, is associated with this disease. Liver X receptors alpha (NR1H3, also known as LXRalpha) an...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-12-145

    authors: Mouzat K,Mercier E,Polge A,Evrard A,Baron S,Balducchi JP,Brouillet JP,Lumbroso S,Gris JC

    更新日期:2011-10-26 00:00:00

  • A novel insertion mutation identified in exon 10 of the MEFV gene associated with Familial Mediterranean Fever.

    abstract:BACKGROUND:Familial Mediterranean Fever (FMF), characterized by recurrent fever and inflammation of serous membranes, is an autosomal recessive disease caused by mutations in the Mediterranean fever (MEFV) gene. Around 296 mutations have been reported to date. METHODS:Two two-generation Turkish families with a total o...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-15-74

    authors: Dogan H,Akdemir F,Tasdemir S,Atis O,Diyarbakir E,Yildirim R,Emet M,Ikbal M

    更新日期:2014-07-01 00:00:00

  • Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia.

    abstract:BACKGROUND:Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited cardiac disorder caused by mutations predominantly in the ryanodine receptor (RyR2) gene. We sought to identify mutations in genes affecting cardiac calcium cycling in patients with CPVT and in less typical familial exercise-r...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-10-12

    authors: Marjamaa A,Laitinen-Forsblom P,Lahtinen AM,Viitasalo M,Toivonen L,Kontula K,Swan H

    更新日期:2009-02-12 00:00:00

  • Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1.

    abstract:BACKGROUND:Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and familial inheritance. HHT is transmitted as an autosomal dominant condition, caused in 85% of cases ...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-017-0380-0

    authors: Albiñana V,Zafra MP,Colau J,Zarrabeitia R,Recio-Poveda L,Olavarrieta L,Pérez-Pérez J,Botella LM

    更新日期:2017-02-23 00:00:00

  • Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.

    abstract:BACKGROUND:Crohn's disease (CD) has the highest prevalence among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Caucasian populations (NJ). We evaluated a set of well-established CD-susceptibility variants to determine if they can explain the increased CD risk in the AJ population. METHODS:We recr...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-12-63

    authors: Peter I,Mitchell AA,Ozelius L,Erazo M,Hu J,Doheny D,Abreu MT,Present DH,Ullman T,Benkov K,Korelitz BI,Mayer L,Desnick RJ,New York Crohn's Disease Working Group.

    更新日期:2011-05-06 00:00:00

  • Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population.

    abstract:BACKGROUND:Bone morphogenetic protein 4 gene (BMP4) plays a key role during maxillofacial development, since orofacial clefts are observed in animals when this gene is conditionally inactivated. We recently reported the existence of association between nonsyndromic cleft lip/palate (NSCLP) and BMP4 polymorphisms by det...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-12-163

    authors: Suazo J,Tapia JC,Santos JL,Castro VG,Colombo A,Blanco R

    更新日期:2011-12-19 00:00:00

  • Factor-V Leiden G1691A and prothrombin G20210A polymorphisms in Sudanese women with preeclampsia, a case -control study.

    abstract:BACKGROUND:Preeclampsia can lead to adverse maternal and perinatal outcomes. There are few studies on the association of preeclampsia with thrombophilia in Africa including Sudan. METHODS:A case -controls study was conducted at Saad Abualila Hospital in Khartoum, Sudan during the period of February through November 20...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-018-0737-z

    authors: Ahmed NA,Adam I,Elzaki SEG,Awooda HA,Hamdan HZ

    更新日期:2019-01-05 00:00:00

  • Common polymorphisms within the NR4A3 locus, encoding the orphan nuclear receptor Nor-1, are associated with enhanced beta-cell function in non-diabetic subjects.

    abstract:BACKGROUND:Neuron-derived orphan receptor (Nor) 1, nuclear receptor (Nur) 77, and nuclear receptor-related protein (Nurr) 1 constitute the NR4A family of orphan nuclear receptors which were recently found to modulate hepatic glucose production, insulin signalling in adipocytes, and oxidative metabolism in skeletal musc...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-10-77

    authors: Weyrich P,Staiger H,Stancáková A,Schäfer SA,Kirchhoff K,Ullrich S,Ranta F,Gallwitz B,Stefan N,Machicao F,Kuusisto J,Laakso M,Fritsche A,Häring HU

    更新日期:2009-08-14 00:00:00

  • Relationship between TGF-β1 + 869 T/C and + 915 G/C gene polymorphism and risk of acute rejection in renal transplantation recipients.

    abstract:BACKGROUND:This meta-analysis was conducted to assess the relationship between the transforming growth factor-beta 1 (TGF-β1) + 869 T/C gene polymorphism, + 915 G/C gene polymorphism, and the susceptibility of acute rejection in the recipients with renal transplantation. METHODS:Relevant studies were searched and iden...

    journal_title:BMC medical genetics

    pub_type: 杂志文章,meta分析,评审

    doi:10.1186/s12881-019-0847-2

    authors: Li HY,Zhou T,Lin S,Lin W

    更新日期:2019-06-25 00:00:00

  • The importance of distinguishing between the odds ratio and the incidence rate ratio in GWAS.

    abstract:BACKGROUND:In recent years, genome wide association studies have identified many genetic variants that are consistently associated with common complex diseases, but the amount of heritability explained by these risk alleles is still low. Part of the missing heritability may be due to genetic heterogeneity and small sam...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-015-0210-1

    authors: Waltoft BL,Pedersen CB,Nyegaard M,Hobolth A

    更新日期:2015-08-30 00:00:00

  • A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients.

    abstract:BACKGROUND:Peutz-Jeghers syndrome (PJS) is a rare multi-organ cancer syndrome and understanding its genetic basis may help comprehend the molecular mechanism of familial cancer. A number of germ line mutations in the STK11 gene, encoding a serine threonine kinase have been reported in these patients. However, STK11 mut...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-7-73

    authors: Thakur N,Reddy DN,Rao GV,Mohankrishna P,Singh L,Chandak GR

    更新日期:2006-09-30 00:00:00

  • A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report.

    abstract:BACKGROUND:Propionic acidemia (PA)(OMIM#606054) is an inborn error of branched-chain amino acid metabolism, caused by defects in the propionyl-CoA carboxylase (PCC) enzyme which encoded by the PCCA and PCCB genes. CASE PRESENTATION:Here we report a Chinese neonate diagnosed with suspected PA based on the clinical symp...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-020-01102-1

    authors: Wang HR,Liu YQ,He XL,Sun J,Zeng FW,Yan CB,Li H,Gao SY,Yang Y

    更新日期:2020-08-20 00:00:00

  • Polymorphisms of CD16A and CD32 Fcγ receptors and circulating immune complexes in Ménière's disease: a case-control study.

    abstract:BACKGROUND:Autoimmune diseases with elevated circulating autoantibodies drive tissue damage and the onset of disease. The Fcγ receptors bind IgG subtypes modulating the clearance of circulating immune complexes (CIC). The inner ear damage in Ménière's disease (MD) could be mediated by an immune response driven by CIC. ...

    journal_title:BMC medical genetics

    pub_type: 杂志文章,多中心研究

    doi:10.1186/1471-2350-12-2

    authors: Lopez-Escamez JA,Saenz-Lopez P,Gazquez I,Moreno A,Gonzalez-Oller C,Soto-Varela A,Santos S,Aran I,Perez-Garrigues H,Ibañez A,Lopez-Nevot MA

    更新日期:2011-01-05 00:00:00

  • A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.

    abstract:BACKGROUND:Hereditary non-syndromic hearing loss is the most common inherited sensory defect in humans. The KCNQ4 channel belongs to a family of potassium ion channels that play crucial roles in physiology and disease. Mutations in KCNQ4 underlie deafness non-syndromic autosomal dominant 2, a subtype of autosomal domin...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-017-0396-5

    authors: Huang B,Liu Y,Gao X,Xu J,Dai P,Zhu Q,Yuan Y

    更新日期:2017-03-24 00:00:00

  • Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation.

    abstract:BACKGROUND:Progressive familial intrahepatic cholestasis (PFIC) type 3 is an autosomal recessive disorder arising from mutations in the ATP-binding cassette subfamily B member 4 (ABCB4) gene. This gene encodes multidrug resistance protein-3 (MDR3) that acts as a hepatocanalicular floppase that transports phosphatidylch...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-020-01173-0

    authors: Goubran M,Aderibigbe A,Jacquemin E,Guettier C,Girgis S,Bain V,Mason AL

    更新日期:2020-11-30 00:00:00

  • Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.

    abstract:BACKGROUND:Retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of retinal degeneration disorders affecting the photoreceptor cells, is one of the leading causes of genetic blindness. Mutations in the photoreceptor-specific gene RP1 account for 3-10% of cases of autosomal dominant RP (adRP). Most...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-7-35

    authors: Gamundi MJ,Hernan I,Martínez-Gimeno M,Maseras M,García-Sandoval B,Ayuso C,Antiñolo G,Baiget M,Carballo M

    更新日期:2006-04-05 00:00:00

  • EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.

    abstract:BACKGROUND:Waardenburg syndrome type I (WS1), an auditory-pigmentary genetic disorder, is caused by heterozygous loss-of-function mutations in PAX3. Abnormal physical signs such as dystopia canthorum, patchy hypopigmentation and sensorineural hearing loss are common, but short stature is not associated with WS1. CASE ...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-015-0165-2

    authors: Li C,Chen R,Fan X,Luo J,Qian J,Wang J,Xie B,Shen Y,Chen S

    更新日期:2015-04-11 00:00:00

  • SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report.

    abstract:BACKGROUND:Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and band keratopathy. To date, almost all mutations have been found to be homozygous muta...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-018-0612-y

    authors: Horita S,Simsek E,Simsek T,Yildirim N,Ishiura H,Nakamura M,Satoh N,Suzuki A,Tsukada H,Mizuno T,Seki G,Tsuji S,Nangaku M

    更新日期:2018-06-18 00:00:00

  • CXCR1 and SLC11A1 polymorphisms affect susceptibility to cutaneous leishmaniasis in Brazil: a case-control and family-based study.

    abstract:BACKGROUND:L. braziliensis causes cutaneous (CL) and mucosal (ML) leishmaniasis. Wound healing neutrophil (PMN) and macrophage responses made following the bite of the vector sand fly contribute to disease progression in mice. To look at the interplay between PMN and macrophages in disease progression in humans we aske...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-11-10

    authors: Castellucci L,Jamieson SE,Miller EN,Menezes E,Oliveira J,Magalhães A,Guimarães LH,Lessa M,de Jesus AR,Carvalho EM,Blackwell JM

    更新日期:2010-01-20 00:00:00

  • Identification of somatic mutations using whole-exome sequencing in Korean patients with acute myeloid leukemia.

    abstract:BACKGROUND:Acute myeloid leukemia (AML) is a biologically and clinically heterogeneous cancer of the bone marrow that is characterized by the rapid growth of abnormal myeloid cells. METHODS:We performed a mutational analysis to identify AML somatic mutations using the whole-exome sequencing data of 36 tumor-normal sam...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-017-0382-y

    authors: Heo SG,Koh Y,Kim JK,Jung J,Kim HL,Yoon SS,Park JW

    更新日期:2017-03-01 00:00:00

  • Mapping the deletion endpoints in individuals with 22q11.2 deletion syndrome by droplet digital PCR.

    abstract:BACKGROUND:Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common human microdeletion syndrome and is associated with many cognitive, neurological and psychiatric disorders. The majority of individuals have a 3 Mb deletion while others have a nested 1.5 Mb deletion, but rare atypical deletions have also been...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-014-0106-5

    authors: Hwang VJ,Maar D,Regan J,Angkustsiri K,Simon TJ,Tassone F

    更新日期:2014-10-14 00:00:00

  • The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.

    abstract:BACKGROUND:In X-linked dilated cardiomyopathy due to dystrophin mutations which abolish the expression of the M isoform (5'-XLDC), the skeletal muscle is spared through the up-regulation of the Brain (B) isoform, a compensatory mechanism that does not appear to occur in the heart of affected individuals. METHODS:We qu...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-13-20

    authors: Neri M,Valli E,Alfano G,Bovolenta M,Spitali P,Rapezzi C,Muntoni F,Banfi S,Perini G,Gualandi F,Ferlini A

    更新日期:2012-03-28 00:00:00

  • First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient.

    abstract:BACKGROUND:Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include the presence of folate receptor (FR) autoantibodies, defects of FR encoding gene FOLR1, mitochondria...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-020-01162-3

    authors: Zhang C,Deng X,Wen Y,He F,Yin F,Peng J

    更新日期:2020-11-26 00:00:00

  • Lack of association between the CALM1 core promoter polymorphism (-16C/T) and susceptibility to knee osteoarthritis in a Chinese Han population.

    abstract:BACKGROUND:CALM1 gene encodes calmodulin (CaM), an important and ubiquitous eukaryotic Ca2+-binding protein. Several studies have indicated that a deficient CaM function is likely to be involved in the pathogenesis of osteoarthritis (OA). Using a convincing genome-wide association study, a Japanese group has recently d...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2350-9-91

    authors: Shi D,Ni H,Dai J,Qin J,Xu Y,Zhu L,Yao C,Shao Z,Chen D,Xu Z,Yi L,Ikegawa S,Jiang Q

    更新日期:2008-10-22 00:00:00

  • Genetic risk-factors for anxiety in healthy individuals: polymorphisms in genes important for the HPA axis.

    abstract:BACKGROUND:Two important aspects for the development of anxiety disorders are genetic predisposition and alterations in the hypothalamic-pituitary-adrenal (HPA) axis. In order to identify genetic risk-factors for anxiety, the aim of this exploratory study was to investigate possible relationships between genetic polymo...

    journal_title:BMC medical genetics

    pub_type: 杂志文章

    doi:10.1186/s12881-020-01123-w

    authors: Lindholm H,Morrison I,Krettek A,Malm D,Novembre G,Handlin L

    更新日期:2020-09-21 00:00:00