scholarly journals PREVALENCE OF ß-THALASSEMIA MUTATIONS AMONG NORTHEASTERN IRANIAN POPULATION AND THEIR IMPACTS ON HEMATOLOGICAL INDICES AND APPLICATION OF PRENATAL DIAGNOSIS, A SEVEN-YEARS STUDY

2018 ◽  
Vol 10 (1) ◽  
pp. e2018042 ◽  
Author(s):  
Mohammad Ehsan Jaripour ◽  
Kourosh Hayatigolkhatmi ◽  
Vahid Iranmanesh ◽  
Farhad Khadivi Zand ◽  
Zahra Badiei ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Los Angeles ◽  
Chorionic Villus ◽  
Amplification Refractory Mutation System ◽  
Chorionic Villus Sampling ◽  
Dot Blot ◽  
Diverse Range ◽  
Hematological Indices ◽  
Arms Pcr ◽  
Significant Difference

Background and objective: ß-thalassemia results from a diverse range of mutations inside the hemoglobin subunit β (HBB) gene. In a study of β-thalassemia carriers and some of their at-risk fetuses in the Khorasan province of Iran we aimed to recognize the most common mutations in the region and to find a possible link between these mutations and some of the relevant hematological indices.Methods: Amplification-refractory mutation system-PCR (ARMS-PCR) was used to detect the typical HBB mutations among 1593 individuals, suspected of having a mutated HBB allele from March/2011 to January/2018. Sanger sequencing of HBB had been performed, where ARMS-PCR was uninformative. In some cases, reverse dot blot was utilized. Analysis of variance was used to compare parametric variables.Results: Among 1273 ß-thalassemia carriers, the prevalence of the mutations were reported as follows: IVS-I-5 (42.03%), IVS-II-1 (11.23%), Codons 8/9 (4.79%), Codon 44 (4.56%), codon 15 (3.53%), Los Angeles (2.91%), Codon 5 (2.75%), IVS-I-110 (2.51%), -88 (2.20%) and other mutations were less than 2% of all of the reported mutations. 644 conceptions were subjected to prenatal diagnosis, using chorionic villus sampling. 118 cases were reported as normal. 352 cases were detected as carriers. 174 cases were diagnosed as affected. There was a significant difference in mean corpuscular volume and hemoglobin A2 levels between the 9 most commonly reported mutation types (p<0.001).Conclusion: This study makes a reliable guide for ß-thalassemia diagnosis in the region. The possibility of a correlation between HBB mutations and hematological indices opens a gate of future investigations.

scholarly journals Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Mehmet Sinan Beksac ◽  
Atakan Tanacan ◽  
Duygu Aydin Hakli ◽  
Gokcen Orgul ◽  
Burcu Soyak ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Chorionic Villus ◽  
Gene Mutations ◽  
Diagnostic Methods ◽  
Obstetric Outcomes ◽  
Chorionic Villus Sampling ◽  
Significant Difference ◽  
Dmd Gene

Aim. To show the importance of prenatal diagnosis of Duchenne Muscular Dystrophy (DMD) and to demonstrate the effect of DMD gene mutations on gestational outcomes. Materials and Methods. We retrospectively evaluated 89 pregnancies in 81 individuals who were referred to Hacettepe University for prenatal diagnosis of DMD between January 2000 and December 2015. Prenatal diagnostic methods (chorionic villus sampling (CVS): 66, amniocentesis (AC): 23) were compared for test results, demographic features, and obstetric outcomes of pregnancies. The female fetuses were divided into two groups according to the DMD status (healthy or carrier) to understand the effect of DMD gene mutations on obstetric outcomes. Results. Eight prenatally diagnosed disease-positive fetuses were terminated. There was no statistically significant difference between the CVS and AC groups in terms of study variables. There were 46 male fetuses (51.6%) and 43 female fetuses (48.4%). Fifteen of the female fetuses were carriers (34.8%). Median birthweight values were statistically insignificantly lower in the carrier group. Conclusion. Pregnancies at risk for DMD should be prenatally tested to prevent the effect of disease on families and DMD carrier fetuses had obstetric outcomes similar to DMD negative female fetuses.

scholarly journals Exclusive transabdominal trans-amniotic approach for chorionic villus sampling in posterior placenta: a novel approach for prenatal diagnosis of genetic disorders

2021 ◽  
Author(s):  
B. I. Patel ◽  
Saumil Patel ◽  
Nisha Patel
Keyword(s):  
Prenatal Diagnosis ◽  
Gestational Age ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Sample Number ◽  
Delay In Diagnosis ◽  
Thalassemia Minor ◽  
Significant Difference

Background: The objective of the study was to evaluate role and safety of transabdominal trans-amniotic approach for Chorionic villus sampling (CVS) for prenatal diagnosis of genetic disorders.Methods: Retrospective analytical study carried out on data form couples coming for pre-natal diagnosis from January 2010 to February 2021. Patient related parameters like age, gestational age; procedure related parameters like amount of sample, number of attempts required; different genetic disorder diagnosed and complications by both the approaches of CVS were recorded and analyzed.Results: Total 2287 patients undergoing CVS with mean age of 27±3.3 years were included. Majority (1621;70.9%) had CVS procedure at gestational age of 12-14 weeks. On analyzing physician’s perception, 663 (29%) patients having complete posterior placenta could not be accessible with routine trans-abdominal CVS and opted for trans-amniotic approach. Amount of sample yield and number of attempts were not statistically significant (p>0.05) by both methods of CVS. Thalassemia major was found in 948 (41.45%) followed by thalassemia minor in 525 (22.96%) patients. No statistically significant difference was found for developing complications by both the methods (p>0.05). Most common complication was pain and discomfort which was relieved by simple analgesics. Out of total 17 (0.74%) abortions; 13 (0.80%) from routine transabdominal and 4 (0.60%) from trans-amniotic route CVS with no statistically significant difference among them (p>0.05). No case of post procedure infection was observed.Conclusions: In complete posterior placenta CVS procedures usually postponed by most physicians leading to delay in diagnosis of genetic disorders. The novel method transabdominal trans-amniotic approach for CVS is effective and safe in skilled hands and can help in early prenatal diagnosis of genetic disorders. 

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.

Chorionic villus sampling: First trimester prenatal diagnosis

1986 ◽  
Vol 53 (6) ◽  
pp. 747-759 ◽  
Author(s):  
Allan T. Bombard ◽  
Joe Leigh Simpson ◽  
Sherman Elias ◽  
Alice O. Martin
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
First Trimester ◽  
Chorionic Villus Sampling

Prenatal diagnosis of familial lethal hypophosphatasia using imaging, blood enzyme levels, chorionic villus sampling and archived fetal tissue

2011 ◽  
Vol 37 (10) ◽  
pp. 1470-1473 ◽  
Author(s):  
Nobuhiro Suzumori ◽  
Etienne Mornet ◽  
Eita Mizutani ◽  
Shintaro Obayashi ◽  
Yasuhiko Ozaki ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
Fetal Tissue ◽  
Chorionic Villus Sampling

scholarly journals Amniocentesis increases level of anxiety in women with invasive prenatal diagnosis of Down syndrome

2015 ◽  
Vol 34 (2) ◽  
pp. 112 ◽  
Author(s):  
Yanuarita Tursinawati ◽  
Serene Thain ◽  
Christina Choi ◽  
George Heong Yeo Seow
Keyword(s):  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Gestational Age ◽  
Perceived Risk ◽  
Linear Regression Analysis ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Psychological Responses ◽  
Depression Anxiety Stress Scale

Backgound <br />Invasive prenatal diagnosis (PND) through amniocentesis and chorionic villus sampling (CVS) can detect Down syndrome. Pregnant women usually experience a variety of psychological responses associated with invasive PND. This study is intended to assess depression, anxiety and stress levels and the factors related to their psychological responses in pregnant women with invasive prenatal diagnosis of Down syndrome.<br /><br />Methods <br />A cross sectional study was conducted at Kandang Kerbau Women’s and Children’s Hospital, Singapore. The psychological responses of 70 women undergoing PND were assessed by Depression Anxiety Stress Scale 21 (DASS 21) questionnaire. A multiple linear regression analysis was used to analyze association between knowledge and perceived risk with psychological responses (CI 95% and significance value p&lt;0.05).<br /><br />Results <br />More than half of the participants had normal anxiety (55.7%), stress (72.8%), depression levels (65.8%). The results revealed significantly higher level of anxiety in women with gestational age &gt;13 weeks who had pursued amniocentesis. Women with no previous children had higher levels of depression and stress. Women who pursued amniocentesis had significantly higher anxiety scores compared to women undergoing CVS (p=0.015).<br /><br />Conclusions <br />Women’s psychological responses are associated with gestational age, type of procedure and parity. The level of anxiety increased in women who underwent amniocentesis for diagnosis of Down syndrome. Knowledge and perceived risk of having a baby with Down syndrome do not seem to have psychological effects to women.

scholarly journals Basic Diploma in International Ultrasound for Prenatal Diagnosis and Therapy

2013 ◽  
Vol 7 (3) ◽  
pp. 346-348
Author(s):  
Maria Angelica Zoppi
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
Diagnostic Procedures ◽  
Beta Thalassemia ◽  
Chorionic Villus Sampling ◽  
Diagnosis And Therapy ◽  
Fetal Blood Sampling ◽  
Chain Analysis ◽  
Invasive Techniques ◽  
Chromosomal Diseases

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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