Non invasive prenatal diagnosis of ?- Thalassemia, A narrative review study

?- Thalassemia is major monogenic disorder. A practical way to prevention of Thalassemia is identification of carries couples; genetic counseling and offer prenatal diagnose services for both carrier couples. Routine prenatal diagnose are chorionic villus sampling and amniocentesis, but both of them are invasive method and they can be ended to bleeding and pregnancy loss. Recently non invasive prenatal diagnosis has been done by researchers for early detection of pre-eclampsia, chromosomal aneuploidies, RhD-genotyping. Regarding non invasive prenatal diagnosis of ?- Thalassemia, detection of paternally inherited mutation in maternal plasma is possible. If the fetus inherited normal paternal allele the performance of invasive method it is not necessary, so this method can be eliminate 50% performance of routine prenatal diagnosis.Bangladesh Journal of Medical Science Vol.16(2) 2017 p.196-202

Download Full-text

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.

Download Full-text

Invasive Prenatal Diagnosis: Chorionic Villus Sampling

Donald School Journal of Ultrasound in Obstetrics & Gynecology ◽

10.5005/jp-journals-10009-1416 ◽

2015 ◽

Vol 9 (3) ◽

pp. 293-306

Author(s):

Panos Antsaklis ◽

Aris Antsaklis ◽

Michael Sindos ◽

Fotodotis M Malamas

Keyword(s):

Prenatal Diagnosis ◽

Obstet Gynecol ◽

Genetic Material ◽

Chorionic Villus ◽

First Trimester ◽

Chorionic Villus Sampling ◽

Maternal Circulation ◽

Maternal Cell ◽

Non Invasive ◽

Limb Reduction

ABSTRACT Chorionic villus sampling (CVS) is the method of choice for first trimester invasive prenatal diagnosis. In expert hands, it is nowadays considered as safe as amniocentesis and has the advantage of an earlier diagnosis. In this review, we describe the technique of the procedure, its indications and contraindications and the requirements concerning adequate training and optimum clinical practice. We also discuss issues concerning the safety of the procedure in singleton and multiple pregnancies, other complications and controversies, such as the association with limb reduction defects and pre-eclampsia, as well as diagnostic problems and dilemmas, such as maternal cell contamination and confined placental mosaicism. We also describe new and promising methods of non-invasive diagnosis, based on the isolation and analysis of fetal cells or cell-free fetal genetic material from the maternal circulation, that aim to replace the invasive methods of prenatal diagnosis in the future. How to cite this article Sindos M, Malamas FM, Antsaklis P, Antsaklis A. Invasive Prenatal Diagnosis: Chorionic Villus Sampling. Donald School J Ultrasound Obstet Gynecol 2015; 9(3):293-306.

Download Full-text

FETAL NUCLEIC ACIDS IN MATERNAL PLASMA

Fetal and Maternal Medicine Review ◽

10.1017/s0965539506001720 ◽

2006 ◽

Vol 17 (2) ◽

pp. 125-137

Author(s):

TRACY YH LEE ◽

YM DENNIS LO

Keyword(s):

Prenatal Diagnosis ◽

Pregnant Women ◽

Chorionic Villus ◽

Fetal Loss ◽

Maternal Plasma ◽

Chorionic Villus Sampling ◽

Invasive Procedures ◽

Noninvasive Prenatal Diagnosis ◽

The World ◽

Definitive Methods

Prenatal diagnosis is now an established part of modern obstetrical practice around the world. While the current definitive methods for prenatal diagnosis rely mainly on invasive procedures such as chorionic villus sampling and amniocentesis, such procedures carry a low but definite risk of fetal loss. As a consequence of the procedure-associated risk of miscarriage, prenatal diagnosis is currently limited to pregnant women with an increased likelihood of bearing an abnormal fetus. To extend the application of prenatal diagnosis to all pregnant women, it has been a long-sought goal of researchers worldwide to introduce safer methods for prenatal diagnosis, towards noninvasive prenatal diagnosis.

Download Full-text

Non-invasive prenatal diagnosis by massively parallel sequencing of maternal plasma DNA

Open Biology ◽

10.1098/rsob.120086 ◽

2012 ◽

Vol 2 (6) ◽

pp. 120086 ◽

Cited By ~ 26

Author(s):

Yuk Ming Dennis Lo

Keyword(s):

Prenatal Diagnosis ◽

Massively Parallel Sequencing ◽

Maternal Plasma ◽

Massively Parallel ◽

Plasma Dna ◽

Parallel Sequencing ◽

Non Invasive ◽

Prenatal Detection ◽

A Genome ◽

Chromosomal Aneuploidies

The presence of foetal DNA in the plasma of pregnant women has opened up new possibilities for non-invasive prenatal diagnosis. The use of circulating foetal DNA for the non-invasive prenatal detection of foetal chromosomal aneuploidies is challenging as foetal DNA represents a minor fraction of maternal plasma DNA. In 2007, it was shown that single molecule counting methods would allow the detection of the presence of a trisomic foetus, as long as enough molecules were counted. With the advent of massively parallel sequencing, millions or billions of DNA molecules can be readily counted. Using massively parallel sequencing, foetal trisomies 21, 13 and 18 have been detected from maternal plasma. Recently, large-scale clinical studies have validated the robustness of this approach for the prenatal detection of foetal chromosomal aneuploidies. A proof-of-concept study has also shown that a genome-wide genetic and mutational map of a foetus can be constructed from the maternal plasma DNA sequencing data. These developments suggest that the analysis of foetal DNA in maternal plasma would play an increasingly important role in future obstetrics practice. It is thus a priority that the ethical, social and legal issues regarding this technology be systematically studied.

Download Full-text

Prenatal diagnosis of haemophilia A by chorionic villus sampling and cordocentesis: All India Institute of Medical Science experience

Vox Sanguinis ◽

10.1111/j.1423-0410.2006.00851.x ◽

2007 ◽

Vol 92 (1) ◽

pp. 79-84 ◽

Cited By ~ 5

Author(s):

R. Ranjan ◽

A. Biswas ◽

M. Kannan ◽

A. Meena ◽

D. Deka ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Medical Science ◽

Chorionic Villus ◽

India Institute ◽

Chorionic Villus Sampling ◽

Haemophilia A ◽

Science Experience

Download Full-text

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.

Download Full-text

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.

Download Full-text