Investigations of chorionic villi after chorionic villus sampling (CVS)

1989 ◽  
Vol 81 (4) ◽  
pp. 329-334 ◽  
Author(s):  
J. Rüschoff ◽  
A. Köhler ◽  
I. Chudoba ◽  
E. D. Steuber
Keyword(s):  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Chorionic Villi

Evidence of bacterial DNA presence in chorionic villi and amniotic fluid in the first and second trimester of pregnancy

2021 ◽  
Author(s):  
Giuseppina Campisciano ◽  
Mariachiara Quadrifoglio ◽  
Manola Comar ◽  
Francesco De Seta ◽  
Nunzia Zanotta ◽  
...  
Keyword(s):  
Amniotic Fluid ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Rrna Gene ◽  
Bacterial Dna ◽  
Chorionic Villi ◽  
Uncomplicated Pregnancy ◽  
Bacterial Microbiota ◽  
Sequencing Method ◽  
V3 Region

The sterile-womb dogma in uncomplicated pregnancy has been lively debated. Data regarding the in utero microbiome environment are based mainly on studies performed at the time of delivery. Aim: To determine whether human placenta and amniotic fluid are populated by a bacterial microbiota in the first and second trimesters of pregnancy. Materials & methods: We analyzed by next-generation sequencing method 24 and 29 samples from chorionic villus sampling (CVS) and amniocentesis (AC), respectively. The V3 region of the 16S rRNA gene was sequenced. Results: 37.5% of CVS and 14% of AC samples showed the presence of bacterial DNA. Conclusion: Our study suggests that bacterial DNA can be identified in the placenta and amniotic fluid during early prenatal life.

scholarly journals Hepatosplenomegaly Associated with Transient Abnormal Myelopoiesis in Down Syndrome: An Autopsy Case of a Stillborn Fetus

2015 ◽  
Vol 8 (2) ◽  
pp. 274-278 ◽  
Author(s):  
Michiko Yuki ◽  
Yuko Emoto ◽  
Yuichi Kinoshita ◽  
Katsuhiko Yoshizawa ◽  
Takashi Yuri ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Umbilical Cord ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Chorionic Villi ◽  
Liver Insufficiency ◽  
Transient Abnormal Myelopoiesis ◽  
Fetal Movements ◽  
Blast Cells ◽  
Almost All

A 38-year-old primiparous mother (gravida 1, para 0) at 27 weeks and 6 days' gestation reported that fetal movements had been absent for 6 days. All serological markers for infection were negative. Chorionic villus sampling at stillbirth delivery revealed trisomy 21 (47, XX, +21), indicative of Down syndrome. The macerated baby was female and weighed 1,290 g. There was no evidence of hydrops fetalis. Proliferating blast cells expressing megakaryoblastic/megakaryocytic antigen CD61 were mainly seen within the vessels, and some cells infiltrated outside of the vessels in almost all organs. Vessels of the umbilical cord and chorionic villi were filled with proliferating blast cells, but the blast cells were not apparent in the bone marrow. The diagnosis of transient abnormal myelopoiesis in Down syndrome was made. Hepatomegaly (64.5 g) was due to congestion and infiltration of CD61-positive blast cells within the vascular lumina and expanding outside the lumina accompanied by fibrotic change. The cause of death was attributed to liver insufficiency caused by liver fibrosis. An umbilical cord and chorionic villi examination may be helpful in the diagnosis of transient abnormal myelopoiesis when post-mortem examination is not permitted.

scholarly journals Chorionic Villus Sampling (CVS) for Prenatal Diagnosis of Genetic Disorders in Bangladesh

2017 ◽  
Vol 31 (2) ◽  
pp. 63-69
Author(s):  
Rezaul Karim Kazal ◽  
Saima Akhtar Chowdhury ◽  
Tabassum Parveen ◽  
Hasna Hena Pervin ◽  
Farah Noor ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Real Time ◽  
Muscular Atrophy ◽  
Genetic Disorders ◽  
Chorionic Villus ◽  
Significant Risk ◽  
Longitudinal Direction ◽  
Chorionic Villus Sampling ◽  
Suction Force ◽  
Chorionic Villi

Objective(s): The aim of the study was to identify safety and outcome of trans abdominal Chorionic Villus Sampling (CVS) for prenatal diagnosis of genetic disorders.Materials and methods: This is a retrospective analytical study on women who had undergone trans abdominal CVS. All CVS were done at Fetal medicine centre, Family Foundation, Green Road, Dhaka, from June 2013 to December 2016. A total of 286 couples, who were referred for prenatal diagnosis of various genetic disorders were studied. Trans abdominal CVS was done under local anesthesia and real-time ultrasound guidance. A 18G/88mm Spinal Needle (B Braun, Germany) was used. All CVS were performed with the “2 operators” technique. The needle was introduced trans abdominally into the placenta in its longitudinal direction. Once the needle was adequately placed, the chorionic villi were aspirated with a to and fro jiggling movement of the aspiration needle and a suction force was applied through a syringe. Results were recorded and analyzed for descriptive statistics.Results: A total of 286 CVSs were performed as outdoor basis. The most common indication was detecting Beta-thalassaemia (82.5%). Other indications were for diagnosis of aneuploidy (9.7%), Hemophilia (3.1%), Spinal muscular atrophy (SMA) (2.4%), Duchenne Muscular Dystrophy (DMD) (2%). Most procedures were done between 11 and 13 weeks (range 11- 14 weeks). Most aspirations (95.1%) were easy; however, in 4.8% cases the aspiration was difficult due to a variety of factors. The overall success rate was 100%. Minor complications like placental hematoma and pervaginal (P/V) bleeding occurred in 2% and 1.3% respectively, which were subsided by conservative management. The procedure related miscarriage within three weeks not occurred in any cases.Conclusion: Trans abdominal CVS under real-time sonography is a useful outdoor procedure for prenatal diagnosis in early pregnancy without significant risk to the mother and the fetus.Bangladesh J Obstet Gynaecol, 2016; Vol. 31(2) : 63-69

scholarly journals Discordant structural chromosomal aberrations in chorionic villi and amniotic fluid leading to a formation of an isochromosome 21: a case report

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Eini Westenius ◽  
Maria Pettersson ◽  
Erik Björck
Keyword(s):  
Amniotic Fluid ◽  
Chromosomal Aberrations ◽  
Trisomy 21 ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Chorionic Villus Sampling ◽  
Chorionic Villi ◽  
Non Invasive ◽  
Increased Risk ◽  
A Cell

Abstract Background Fetoplacental discrepancies occur in approximately 1–2% of analyzed prenatal cases. They are typically due to confined placental mosaicism, where an aberration is observed in the placental cells but not found in the fetal cells. Confined placental mosaicism usually involves aneuploidies and more sparsely structural chromosomal aberrations. To the best of our knowledge, this is the first reported case of a discrepancy in the analyses of chorionic villus sampling and amniocentesis involving two different structural chromosomal aberrations of chromosome 21. Case presentation We report a 33-year-old woman who was referred for a non-invasive prenatal testing due to an increased risk of trisomy 21 gleaned from a combined ultrasound and blood test. The non-invasive prenatal testing showed an increased risk of trisomy 21 with a normalized coverage signal that did not match the fetal cell-free DNA fraction. Rapid aneuploidy detection performed on uncultured chorionic villi indicated mosaicism for trisomy 21. The follow-up analyses revealed discordant chromosomal aberrations: 46,XY,der(21)t(10;21)(p11.21;q10) in the analysis of the chorionic villus sampling and 46,XY, + 21,der(21;21)(q10;q10) in the analysis of the amniocentesis. Thus, the analyses indicated mosaicism for a cell line containing trisomy 21 and a cell line containing a partially duplicated short arm of chromosome 10 in the chorionic villi and complete trisomy 21 resulting from an isochromosome 21 in the amniotic fluid. The analyses of the lymphocytes and the fibroblasts of the woman were normal. Conclusions We propose a multiple-step mechanism as a possible theoretical explanation for the formation of these discordant structural chromosomal aberrations in the chorionic villi and amniotic fluid. With this case report, we want to highlight the importance of understanding the possible underlying embryological mechanisms when interpreting results from different prenatal analyses.

Dual and multiple trisomies: analysis of 38 cases from 13 thousand karyotyped embryos and fetuses

2017 ◽  
pp. 109-115
Author(s):  
N.P. Veropotvelyan ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Primary Group ◽  
Chorionic Villus Sampling ◽  
Missed Abortion ◽  
Reproductive Losses

The study presents data of different authors, as well as its own data on the frequency of multiple trisomies among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of chromosomal abnormalities (CA) in I and II trimesters of gestation. The objective: determining the frequency of occurrence of double (DT) and multiple trisomies (MT) among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of occurrence of HA in I and II trimesters of gestation; establishment of the most common combinations of diesel fuel and the timing of their deaths compared with single regular trisomy; comparative assessment materinskogo age with single, double and multiple trisomies. Patients and methods. During the period from 1997 to 2016, the first (primary) group of products in 1808 the concept of missed abortion (ST) of I trimester was formed from women who live in Dnepropetrovsk, Zaporozhye, Kirovograd, Cherkasy, Kherson, Mykolaiv regions. The average term of the ST was 8±3 weeks. The average age of women was 29±2 years. The second group (control) consisted of 1572 sample product concepts received during medical abortion in women (mostly residents of Krivoy Rog) in the period of 5-11 weeks of pregnancy, the average age was 32 years. The third group was made prenatally karyotyped fruits (n = 9689) pregnant women with high risk of HA of the above regions of Ukraine, directed the Centre to invasive prenatal diagnosis for individual indications: maternal age, changes in the fetus by ultrasound (characteristic malformations and echo markers HA) and high risk of HA on the results of the combined prenatal screening I and II trimesters. From 11 th to 14 th week of pregnancy, chorionic villus sampling was performed (n=1329), with the 16th week – platsentotsentez (n=2240), 18 th and 24 th week – amniocentesis (n=6120). Results. A comparative evaluation of maternal age and the prevalence anembriony among multiple trisomies. Analyzed 13,069 karyotyped embryonic and fetal I-II trimester of which have found 40 cases of multiple trisomies – 31 cases in the group in 1808 missed abortion (2.84% of total HA), 3 cases including 1 572 induced medabortov and 7 cases during 9689 prenatal research (0.51% of HA). Determined to share the double trisomies preembrionalny, fetal, early, middle and late periods of fetal development. Conclusion. There were no significant differences either in terms of destruction of single and multiple trisomies or in maternal age or in fractions anembrionalnyh pregnancies in these groups. Key words: multiple trisomies, double trisomy, missed abortion, prenatal diagnosis.

Early ultrasound prenatal diagnosis of the Meckel — Gruber syndrome in combination with 47,XYY

2018 ◽  
Author(s):  
N.P. Veropotvelyan , E.S. Savarovskaya , T.V. Usenko
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
Autosomal Recessive Disorder ◽  
Chorionic Villus Sampling ◽  
Previous Pregnancy ◽  
Cystic Kidneys ◽  
Occipital Encephalocele ◽  
Posterior Fossa Cyst ◽  
The Family ◽  
Hands And Feet

Meckel — Gruber syndrome (MGS) is a rare lethal autosomal recessive disorder characterised by occipital encephalocele, polydactyly and bilateral dysplastic cystic kidneys. A case of prenatal diagnosis of MGS at 12 weeks of gestation is described. The previous pregnancy was terminated at 20 weeks due to polycystic kidneys of the fetus. The transabdominal scan of the present pregnancy revealed occipital encephalocele of the fetus. There was no oligohydramnios, but the fetal urinary bladder was not visualised and both kidneys were enlarged. The transvaginal sonogram demonstrated intracranial space dilatation (6 mm) and encepalocele with posterior fossa cyst, protrunding from the occipital bone deffect. The kidneys had the polycystic structure suggesting cystic dysplasia and there was no evidence of the hands and feet polydactyly. Based on these findings the diagnosis of the MGS was made. Chorionic villus sampling revealed 47,XYY. The family elected to terminate pregnancy and the diagnosis was confirmed by autopsy.

Fetal loss after chorionic villus sampling in twin pregnancies

2021 ◽  
Author(s):  
T. Elger ◽  
R. Akolekar ◽  
A. Syngelaki ◽  
C. De Paco Matallana ◽  
F. S. Molina ◽  
...  
Keyword(s):  
Chorionic Villus ◽  
Fetal Loss ◽  
Chorionic Villus Sampling ◽  
Twin Pregnancies
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