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1. 絨毛膜サンプリング検査：リスク、合併症、および手技chorionic villus sampling [show details]
… Chorionic villus sampling (CVS) refers to a procedure in which small samples of the placenta are obtained for prenatal genetic diagnosis, generally in the first trimester after 10 weeks of gestation. …
2. ゴーシェ病：病因、臨床症状、および診断gaucher disease pathogenesis clinical manifestations and diagnosis [show details]
…coexisting hematologic malignancy. Prenatal diagnosis is performed by enzyme analysis of fetal cells obtained by chorionic villus sampling or amniocentesis . Obtaining a skin biopsy from the proband and assaying …
3. ヘモグロビン分析法およびヘモグロビン異常症を特定するための検査法methods for hemoglobin analysis and hemoglobinopathy testing [show details]
… performed on DNA from peripheral blood leukocytes. For prenatal diagnosis, amniotic fluid cells or chorionic villus samples can be used. The DNA is typically amplified by PCR and then genotyped for a definitive … analysis of both alpha and beta globin loci (both sequence analysis and copy number variation analysis at both loci) is often necessary…
4. 産科における染色体マイクロアレイの利用 use of chromosomal microarray in obstetrics [show details]
…termination. Prenatal chromosomal microarray (CMA) analysis is usually performed on DNA from uncultured amniocytes (amniotic fluid) or chorionic villus cells. Prenatal CMA provides most of the information …
5. 脆弱Ｘ症候群の出生前スクリーニングおよび診断prenatal screening and diagnosis for fragile x syndrome [show details]
…can be used before methylation changes occur, such as in preimplantation embryos and chorionic villus sampling analysis of first trimester trophoblast tissues . Links to society and government-sponsored …

English Journal

[Genetic testing of chorionic villi from abortuses during early pregnancy].

Yang Y, Qu S, Wang L, Guo Y, Xue S, Cai A, Cui S, Kong X.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2019 Jun;36(6)547-551.
To explore the prevalence and characteristics of chromosomal abnormalities in abortuses during early pregnancy with single nucleotide polymorphism microarray (SNP-array). For 520 abortuses, copy number variations (CNVs) in chorionic villi were analyzed with SNP-array. In 510 (98.1%) of the samples,
PMID 31055802

Value of increased nuchal translucency in the era of noninvasive prenatal testing with cell-free DNA.

Holzer I, Husslein PW, Bettelheim D, Scheidl J, Kiss H, Farr A.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics. 2019 Jun;145(3)319-323.
To assess the value of increased nuchal translucency (NT) at first-trimester screening (FTS) despite the superiority of noninvasive prenatal testing with cell-free DNA (cfDNA) for the detection of fetal aneuploidies. Retrospective analysis of all FTS data from 2005 to 2015 in our department. Only ca
PMID 30901484

Patterns of Placental Injury in Congenital Anomalies in Second Half of Pregnancy.

, S S, J J, J J, h h, .
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 2019 May;()1093526619852869.
Placental pathology in fetal congenital anomalies in second half of pregnancy is largely unknown. Twenty-six clinical and 45 independent placental phenotypes from pregnancies ≥20 weeks of gestation with congenital anomalies divided into 4 groups were retrospectively compared with analysis of varia
PMID 31138053

Japanese Journal

Slow Fetal Heart Rate before Miscarriage in the Early First Trimester Predicts Fetal Aneuploidy in Women with Recurrent Pregnancy Loss

Sakamoto Ai,Kamada Yasuhiko,Kubo Kotaro,Hasegawa Toru,Kotani Sayoko,Nakatsuka Mikiya,Hiramatsu Yuji
Acta Medica Okayama 72(1), 61-66, 2018-02
… The other 113 pregnancies ended in miscarriage, and we categorized them into groups based on fetal karyotype, determined by chorionic villus sampling: the Misc-NK (normal karyotype) group, n=35 euploid cases; … We compared the groups' regression line slopes and intercepts for FHR by an analysis of covariance. …
NAID 120006398864

腹腔鏡下卵管保存手術後のPEP（persistent ectopic pregnancy）早期診断に関する検討

浜口大輔,藤下晃,河野通晴,妹尾悠,平木裕子,荒木裕之,吉田至幸,増﨑雅子,小寺宏平
日本産科婦人科内視鏡学会雑誌 30(2), 367-373, 2015
… However, this procedure is associated with the disadvantage of persistent chorionic villus (persistent ectopic pregnancy [PEP]). … We examined whether PEP could be diagnosed early based on the transition of pre- and postoperative serum human chorionic gonadotropin (hCG) levels and the outcomes of PEP patients. … Analysis with ROC, initial serum hCG ratio 0.509 as cut-off revealed that the specifity was 79.3% and the sensitivity was 66.7%. …
NAID 130005066523