Basic Diploma in International Ultrasound for Prenatal Diagnosis and Therapy

ABSTRACT In the Microcitemico Hospital the first prenatal diagnosis in Europe of beta-thalassemia was performed in 1977 using fetal blood sampling and globin chain analysis at 20th week of gestation. Since then, more than 55,000 prenatal invasive procedures were performed in our center for several genetic and chromosomal diseases. In 2011, our department has been introduced as a center for teaching invasive diagnostic procedures under the umbrella of the Ian Donald International University School of Medical Ultrasound. After a period of tutoring for 2 or more weeks, fellow doctors who intend to learn invasive techniques for prenatal diagnosis under the direct supervision of a senior tutor (G. Monni) can receive the basic diploma in invasive prenatal procedures (Fig. 1). In the following study, we describe the training process of the invasive prenatal procedure performed by transabdominal chorionic villus sampling (TA-CVS). How to cite this article Monni G, Zoppi MA, Iuculano A. Basic Diploma in International Ultrasound for Prenatal Diagnosis and Therapy. Donald School J Ultrasound Obstet Gynecol 2013;7(3):346-348.

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Non Invasive Prenatal Diagnosis of Aneuploidy: Next Generation Sequencing or Fetal DNA Enrichment?

Balkan Journal of Medical Genetics ◽

10.2478/v10034-012-0013-z ◽

2012 ◽

Vol 15 (Supplement) ◽

pp. 17-26 ◽

Cited By ~ 3

Author(s):

Neil D. Avent ◽

A Webb ◽

TE Madgett ◽

T Miran ◽

K Sillence ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Detection Rate ◽

Improve Patient Safety ◽

Chorionic Villus ◽

Diagnostic Procedures ◽

Chorionic Villus Sampling ◽

Group Status ◽

Non Invasive ◽

Fetal Dna ◽

Cell Free Fetal Dna

ABSTRACT Current invasive procedures [amniocentesis and chorionic villus sampling (CVS)] pose a risk to mother and fetus and such diagnostic procedures are available only to high risk pregnancies limiting aneuploidy detection rate. This review seeks to highlight the necessity of investing in non invasive prenatal diagnosis (NIPD) and how NIPD would improve patient safety and detection rate as well as allowing detection earlier in pregnancy. Non invasive prenatal diagnosis can take either a proteomics approach or nucleic acid-based approach; this review focuses on the latter. Since the discovery of cell free fetal DNA (cffDNA) and fetal RNA in maternal plasma, procedures have been developed for detection for monogenic traits and for some have become well established (e.g., RHD blood group status). However, NIPD of aneuploidies remains technically challenging. This review examines currently published literature evaluating techniques and approaches that have been suggested and developed for aneuploidy detection, highlighting their advantages and limitations and areas for further research.

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Invasive Prenatal Diagnosis

10.2310/obg.19130 ◽

2020 ◽

Author(s):

Kimberly Zayhowski

Keyword(s):

Genetic Counseling ◽

Prenatal Diagnosis ◽

Genetic Testing ◽

Prenatal Care ◽

Chorionic Villus ◽

Prenatal Testing ◽

Chorionic Villus Sampling ◽

Genetic Tests ◽

Genetic Technologies ◽

Invasive Techniques

Despite recent advances in genetic technologies that are making invasive prenatal diagnosis less common, amniocentesis and chorionic villus sampling (CVS) remain an integral part of prenatal care. A multitude of tests, including a variety of genetic tests, can be performed using samples collected from either procedure. Although invasive testing has limitations, many genetic conditions can only be diagnosed through invasive techniques during pregnancy. Invasive testing continues to assist patients and providers in making informed decisions regarding the care of pregnancies. This review details amniocentesis and chorionic villus sampling with a focus on genetic testing, describing why the tests are performed, the way in which they are performed, and the associated limitations and complications of the procedures. This review 5 figures, 3 tables, and 26 references. Keywords: prenatal diagnosis, amniocentesis, chorionic villus sampling, genetic testing, genetic counseling, invasive prenatal testing, pregnancy, aneuploidy

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Prenatal diagnosis using fetal cells in the maternal circulation

Fetal and Maternal Medicine Review ◽

10.1017/s0965539500001200 ◽

1995 ◽

Vol 7 (2) ◽

pp. 77-86 ◽

Cited By ~ 2

Author(s):

D Gänshirt ◽

HSP Garritsen ◽

W Holzgreve

Keyword(s):

Prenatal Diagnosis ◽

Single Gene ◽

Chorionic Villus ◽

Fetal Tissue ◽

Chorionic Villus Sampling ◽

Chromosomal Anomalies ◽

Maternal Circulation ◽

Fetal Cells ◽

Fetal Blood Sampling ◽

Sampling Procedures

Since the introduction of ultrasound into obstetrics during the 1960s, there has been rapid progress in the detection of genetic and nongenetic defects in utero. With the development of sampling procedures like amniocentesis, chorionic villus sampling (CVS) and fetal blood sampling, the obstetrician has been able to obtain fetal tissue and the parallel improvement in laboratory techniques has allowed the diagnosis of chromosomal anomalies and single gene defects from fetal cells. Amniocentesis and CVS have become well established techniques for routine prenatal diagnosis of chromosomal and metabolic disorders and fetal tissue is now accessible throughout all three trimesters.

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Diagnostic Prenatal Invasive Procedures in Obstetrics

Donald School Journal of Ultrasound in Obstetrics & Gynecology ◽

10.5005/jp-journals-10009-1313 ◽

2013 ◽

Vol 7 (4) ◽

pp. 426-428 ◽

Cited By ~ 1

Author(s):

Maria Angelica Zoppi

Keyword(s):

Single Gene ◽

Chorionic Villus ◽

Genetic Diagnosis ◽

Beta Thalassemia ◽

Pcr Analysis ◽

Comparative Genomic ◽

Chorionic Villus Sampling ◽

Invasive Procedures ◽

Diagnostic Prénatal ◽

Fetal Blood Sampling

ABSTRACT In 1977, we performed in Cagliari the first invasive prenatal diagnosis for beta-thalassemia in Europe, using fetal blood sampling by placentacentesis and chain globins analysis at 20th week of gestation. Since then we have performed more than 8,000 fetal diagnoses for beta-thalassemia using placentacentesis, fetoscopy, cordocentesis, cardiocentesis, amniocentesis, transcervical-chorionic villus sampling (TC-CVS), transabdominal (TA-CVS) and preimplantation genetic diagnosis (PGD) by embryo biopsy. Since 1986 we have been using for the beta-thalassemia and other single gene diseases only TA-CVS and PGD and DNA polymerase chain reaction (PCR) analysis. For karyotype we have been using mostly TA-CVS and amniocentesis and traditional cytogenetic analysis, in several cases also fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) array. How to cite this article Monni G, Zoppi MA, Iuculano A. Diagnostic Prenatal Invasive Procedures in Obstetrics. Donald School J Ultrasound Obstet Gynecol 2013;7(4):426-428.

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

HEALTH OF WOMAN ◽

10.15574/hw.2017.117.109 ◽

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.

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

10.21516/2413-1458-2018-17-1-62-67 ◽

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.

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