WordNet

(statistics) the selection of a suitable sample for study
measurement at regular intervals of the amplitude of a varying waveform (in order to convert it to digital form)
of or relating to a chorion; "a chorionic villus is a minute vascular projection on the fetal chorion"
a minute hairlike projection on mucous membrane
one of the tiny villi that stick out of the fetal chorion and combine with the mothers uterine tissue to form the placenta
the outermost membranous sac enclosing the embryo in higher vertebrates (reptiles, birds and mammals)

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絨毛(膜の表面の虫状の血管の多い小さな突起)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/06/25 12:09:58」(JST)

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Chorionic villus sampling (CVS), sometimes misspelled "chorionic villous sampling",^[1] is a form of prenatal diagnosis to determine chromosomal or genetic disorders in the fetus. It entails sampling of the chorionic villus (placental tissue) and testing it for chromosomal abnormalities, usually with FISH or PCR. CVS usually takes place at 10–12 weeks' gestation, earlier than amniocentesis (14–16 weeks).^{[citation needed]} It is the preferred technique before 15 weeks.^[2]

CVS was performed for the first time by Italian biologist Giuseppe Simoni, scientific director of Biocell Center, in 1983.^[3]

Use as early as 8 weeks in special circumstances has been described.^[4]

It can be performed in a transcervical or transabdominal manner.^[5]

Indications

Possible reasons for having a CVS can include:

Abnormal first trimester screen results
Increased nuchal translucency or other abnormal ultrasound findings
Family history of a chromosomal abnormality or other genetic disorder
Parents are known carriers for a genetic disorder

Advanced maternal age (maternal age above 35). AMA is associated with increase risk of Down's syndrome and at age 35, risk is 1:400.^[6] Screening test are usually carried out first before deciding if CVS should be done.

Risks

Risk of miscarriage in CVS is about 0.5 - 1%. Apart from a risk of miscarriage, there is a risk of infection and amniotic fluid leakage. The resulting amniotic fluid leak can develop into a condition known as oligohydramnios, which is low amniotic fluid level. If the resulting oligohydramnios is not treated and the amniotic fluid continues to leak it can result in the baby developing hypoplastic lungs (underdeveloped lungs).

Additionally, there is also mild risk of Limb Reduction Defects associated with CVS, especially if the procedure is carried out in earlier terms (before 12^th week of pregnancy).^[7]

It is important after having CVS that the obstetrician follow the patient closely to ensure the patient does not develop infection.

Limitations

A small percentage (1-2%) of pregnancies have confined placental mosaicism, where some but not all of the placental cells tested in the CVS are abnormal, even though the pregnancy is unaffected.^[8] Cells from the mother can be mixed with the placental cells obtained from the CVS procedure. Occasionally if these maternal cells are not completely separated from the placental sample, this can lead to discrepancies with the results. This phenomenon is called Maternal Cell Contamination (MCC).^[8] CVS cannot detect all birth defects. It is used for testing chromosomal abnormalities or other specific genetic disorders only if there is family history or other reason to test.

References

^ A PubMed search yields 168 papers using chorionic villous as of June 15, 2011.
^ Alfirevic Z, von Dadelszen P (2003). Alfirevic, Zarko. ed. "Instruments for chorionic villus sampling for prenatal diagnosis". Cochrane Database Syst Rev (1): CD000114. DOI:10.1002/14651858.CD000114. PMID 12535386.
^ (Lancet, 1983)
^ Wapner RJ, Evans MI, Davis G, et al. (June 2002). "Procedural risks versus theology: chorionic villus sampling for Orthodox Jews at less than 8 weeks' gestation". Am. J. Obstet. Gynecol. 186 (6): 1133–6. DOI:10.1067/mob.2002.122983. PMID 12066086. http://linkinghub.elsevier.com/retrieve/pii/S0002937802000078.
^ Alfirevic Z, Sundberg K, Brigham S (2003). Alfirevic, Zarko. ed. "Amniocentesis and chorionic villus sampling for prenatal diagnosis". Cochrane Database Syst Rev (3): CD003252. DOI:10.1002/14651858.CD003252. PMID 12917956.
^ Incidence of Down syndrome | Pregnancy Signs Blog
^ US CDC MMWR Recommendations and Reports: Chorionic Villus Sampling and Amniocentesis: Recommendations for Prenatal Counseling, July 21, 1995 / 44(RR-9);1-12
^ ^a ^b Wapner, Ronald (December 2005). "Invasive prenatal diagnostic techniques". Seminars in Perinatology 29 (6): 401–4. DOI:10.1053/j.semperi.2006.01.003. PMID 16533654.

External links

March of Dimes
MedlinePlus Encyclopedia 003406
Cleveland Clinic
CVS Test: Six Months of Worry Free Pregnancy
Chorionic Villus Sampling - slideshow by The New York Times

UpToDate Contents

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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
2. 周期性嘔吐症候群 cyclic vomiting syndrome
3. 患者情報：絨毛膜サンプリング（詳細） chorionic villus sampling beyond the basics
4. 多胎妊娠における減数手術 multifetal pregnancy reduction and selective termination
5. Uncommon congenital adrenal hyperplasias

English Journal

Prenatal diagnosis of leukocyte adhesion deficiency type-1 (five cases from iran with two new mutations).

Esmaeili B, Ghadami M, Fazlollahi MR, Niroomanesh S, Atarod L, Chavoshzadeh Z, Moradi Z, Alizadeh Z, Pourpak Z.Author information Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran. esmaeili.behnaz@yahoo.com.AbstractLeukocyte adhesion deficiency type-1(LAD-1) is one of the immunodeficiency autosomal recessive diseases that results from mutation in integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) ITGB2 gene. The aim of this study was to investigate molecular prenatal diagnosis of LAD-1.Four pregnant women with five fetuses (one pregnancy was twin) with clinical and laboratory diagnosis of LAD-1 in their previous children were studied. The chorionic villus sampling (CVS) was obtained when mothers were in 10-12th weeks of gestation.Mutation analysis of ITGB2 gene for affected children revealed 3 misssense mutations (c.382G>A, a novel mutation, c.2146G>C, and c.715G>A) and one splice site novel mutation (c.1877+2G>A). All of Parents were heterozygous for these mutations. Consideration of affected gene regions for five CVS samples showed two homozygotes and one heterozygote for mutant allele and two homozygotes for normal allele. Interestingly, one of the twin fetuses was affected and another was normal. Briefly, two cases of CVS samples were affected and three cases of remained CVS samples were unaffected.This is the first report of prenatal diagnosis of LAD-1 from Iran with two new mutations that can be used for genetic and prenatal diagnosis for all patients suspected to LAD1 and can be helpful to prevent the birth of affected children with LAD-1. This abstract presented in the second international congress of Immunology, Asthma and Allergy, Tehran, Iran 2013.
Iranian journal of allergy, asthma, and immunology.Iran J Allergy Asthma Immunol.2014 Feb;13(1):61-5.
Leukocyte adhesion deficiency type-1(LAD-1) is one of the immunodeficiency autosomal recessive diseases that results from mutation in integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) ITGB2 gene. The aim of this study was to investigate molecular prenatal diagnosis of LAD-1.Four pre
PMID 24338230

Distended jugular lymphatic sacs in fetuses with increased nuchal translucency: correlation with first-trimester findings in aberrant karyotypes.

Eckmann-Scholz C, Salmassi A, Jonat W, Alkatout I.Author information Department of Gynecology & Obstetrics, Christian-Albrechts-University Kiel & University, Hospital Schleswig-Holstein , Campus Kiel, Kiel , Germany.AbstractAbstract Objective: We investigated the prognostic relevance of ultrasound visibility of distendend jugular lymphatic sacs (JLS) in fetuses with aberrant karyotypes in First-trimester-screening. Furthermore we tried to differentiate between increased nuchal translucency (NT) and cystic hygroma colli. Methods: We performed a retrospective single center study in 1874 patients presenting for First-trimester-screening between 2009 and 2013. All fetuses with an abnormal risk calculation and NT > 2.5 mm (95th percentile) were reviewed for ultrasound visibility of JLS. A group of 30 fetuses with normal risk calculation served as control. Karyotyping was performed by chorionic-villi-sampling or amniocentesis, respectively. Results: In a total of 2030 fetuses 70 (3.44%) with pathologic first-trimester-screening results showed either aberrant karyotypes or severe ultrasound pathologies. Main aberrant karyotypes were trisomy 21 (25), trisomy 18 (16), trisomy 13(six), Monosomy X (four), 47, XYY or 47, XXX (three) and Noonan' syndrome (two). Distended JLS were visible in 47% of all cases. Statistical anaylsis found a significant correlation between NT and JLS size for the fetuses with trisomies 21, 18 and 13 (r = 0.53, p < 0.002). Cystic hygroma colli was present in all Turner and Noonan syndromes. Conclusions: Distended JLS have a strong correlation with abnormal karyotypes and increased nuchal translucency. Karyotyping should be offered in these cases.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.J Matern Fetal Neonatal Med.2014 Feb;27(3):257-60. doi: 10.3109/14767058.2013.809416. Epub 2013 Jun 27.
Abstract Objective: We investigated the prognostic relevance of ultrasound visibility of distendend jugular lymphatic sacs (JLS) in fetuses with aberrant karyotypes in First-trimester-screening. Furthermore we tried to differentiate between increased nuchal translucency (NT) and cystic hygroma colli
PMID 23718767

Japanese Journal

胎児染色体検査とマイクロアレイ検査(<特集>出生前遺伝学的検査)

山田崇弘
日本産科婦人科學會雜誌 66(3), 982-988, 2014-03-01
NAID 110009810633

非侵襲的出生前遺伝子学的検査(新型出生前診断)における課題と問題点における考察

舩渡忠男
東北福祉大学研究紀要 38, 185-197, 2014
… The invasive procedures amniocentesis and chorionic villus sampling are routinelyapplied in pregnancies at risk for fetal genetic disorders and the results obtained are the goldstandard for prenatal diagnosis. …
NAID 120005605851

Related Pictures

PPT - Assessment of Fetal Well-Being PowerPoint Presentation - ID:330673 Chorionic Villus Sampling فحص الزغابات المشيمية - Chorionic Villus Sampling | الطبي Chorionic villus sampling with needle & ultrasound - Stock Image - M800/0037 - Science What Happens During a Chorionic Villus Sampling (CVS) Test? | Pregnancy Video Chorionic Villus Sampling - YouTube

★リンクテーブル★

リンク元	「慢性絨毛採取」「絨毛採取」
関連記事	「chorionic」「sampling」「villus」

「慢性絨毛採取」

Chorionic villus sampling
	Intervention
	; Micrograph showing chorionic villi - the tissue that is collected in CVS. H&E stain.
ICD-10-PCS	16603-00
ICD-9-CM	75.33
MeSH	D015193