{
    "abstract": "To share the chorionic villus sampling (CVS) experience of a single surgeon in our institution.\nThis retrospective study consists of CVS cases performed between 2000 and 2018. A total of 66 types of indications were classified under two main categories, the screening group (SG) and the inherited disease group (IDG). The SG and IDG were compared in terms of clinical characteristics of the patients, Beksa\u00e7 obstetrics index (BOI), timing of CVS in terms of gestational week, and complications and termination of pregnancy (TOP) rate.\nCVS was performed at 656 women, 69 and 587 of whom were included in the SG and IDG, respectively. CVS indications of the SG were determined as advanced maternal age, high risk in combined test, fetal anomaly suspicion in ultrasonography, and increased nuchal translucency in 23, 23, 14 and 9 cases, respectively. On the other hand, CVS indications of the IDG were hereditary disorders related to hematological, muscular, and metabolic systems for 233, 179, and 116 cases, respectively. Furthermore, 32 patients had a single-gene disorder and 14 had a neurodegenerative disease. According to the results of CVS, 359 fetuses were found to be normal (54.73%), while 205 (31.25%) and 92 (14.02%) fetuses were found to be disorder-positive or carriers, respectively. Two hundred pregnant women accepted TOP. Eight (1.2%) pregnancies ended with abortion after CVS. Statistically significant differences were observed in BOI and TOP rate between SG and IDG (p: 0.042 and 0.013).\nHereditary disorders were the most common CVS indications and the acceptance of TOP was significantly higher in this group.",
    "authors": [
        {
            "affiliation": "Division of Perinatology, Department of Obstetrics and Gynecology, Hacettepe University, Ankara, Turkey.",
            "firstname": "M Sinan",
            "initials": "MS",
            "lastname": "Beksa\u00e7"
        },
        {
            "affiliation": "Division of Perinatology, Department of Obstetrics and Gynecology, Hacettepe University, Ankara, Turkey.",
            "firstname": "Canan",
            "initials": "C",
            "lastname": "Unal"
        },
        {
            "affiliation": "Division of Perinatology, Department of Obstetrics and Gynecology, Hacettepe University, Ankara, Turkey.",
            "firstname": "Atakan",
            "initials": "A",
            "lastname": "Tanacan"
        },
        {
            "affiliation": "Division of Perinatology, Department of Obstetrics and Gynecology, Hacettepe University, Ankara, Turkey.",
            "firstname": "Erdem",
            "initials": "E",
            "lastname": "Fadiloglu"
        },
        {
            "affiliation": "Department of Histology and Embryology, TOBB University, Ankara, Turkey.",
            "firstname": "Ay\u015fe Nur",
            "initials": "AN",
            "lastname": "\u00c7akar"
        }
    ],
    "conclusions": "Hereditary disorders were the most common CVS indications and the acceptance of TOP was significantly higher in this group.",
    "copyrights": "\u00a9 2019 John Wiley & Sons Ltd/University College London.",
    "doi": "10.1111/ahg.12365",
    "journal": "Annals of human genetics",
    "keywords": [
        "Chorionic Villus Sampling",
        "fetal anomaly",
        "hereditary disease",
        "nuchal translucency"
    ],
    "methods": null,
    "publication_date": "2019-12-05",
    "pubmed_id": "31799725",
    "results": "CVS was performed at 656 women, 69 and 587 of whom were included in the SG and IDG, respectively. CVS indications of the SG were determined as advanced maternal age, high risk in combined test, fetal anomaly suspicion in ultrasonography, and increased nuchal translucency in 23, 23, 14 and 9 cases, respectively. On the other hand, CVS indications of the IDG were hereditary disorders related to hematological, muscular, and metabolic systems for 233, 179, and 116 cases, respectively. Furthermore, 32 patients had a single-gene disorder and 14 had a neurodegenerative disease. According to the results of CVS, 359 fetuses were found to be normal (54.73%), while 205 (31.25%) and 92 (14.02%) fetuses were found to be disorder-positive or carriers, respectively. Two hundred pregnant women accepted TOP. Eight (1.2%) pregnancies ended with abortion after CVS. Statistically significant differences were observed in BOI and TOP rate between SG and IDG (p: 0.042 and 0.013).",
    "title": "Chorionic villus sampling experience of a reference perinatal medicine center.",
    "xml": "<Element 'PubmedArticle' at 0x788506d90d60>"
}