scholarly journals Prenatal Invasive Testing: A 4-Years Single Institution Experience in Turkey

2016 ◽  
Vol 21 (3) ◽  
Author(s):  
Emre Ekmekçi ◽  
Kutlu Kurt ◽  
Servet Gençdal ◽  
Emine Demirel ◽  
Sefa Kelekçi
Keyword(s):  
Prenatal Diagnosis ◽  
Invasive Procedures ◽  
Single Institution ◽  
Abnormal Karyotype ◽  
Non Invasive ◽  
Prenatal Diagnostic ◽  
Ultrasound Findings ◽  
Demographic Distribution ◽  
Fetal Karyotype

<p><strong>OBJECTIVE:</strong> Evaluation of indications, methods and results of prenatal diagnostic invasive procedures performed in our clinic in a four-year process and interpretation of relations between them.</p><p><strong>STUDY DESIGN:</strong> In this study 553 patients were examined retrospectively, who were undergone prenatal invasive procedures in our clinic for determination of fetal karyotype. Demographic distribution of the patients, indications for tests and results were examined, complications were evaluated depending on the procedure.</p><p><strong>RESULTS:</strong> A total of 41 abnormal karyotype pregnancies detected, the most common abnormal karyotype was trisomy 21 and most of abnormal karyotypes were detected in patients who undergone invasive diagnostic tests due to abnormal ultrasound findings. Abortion is resulted at two patients.</p><p><strong>CONCLUSION:</strong> Although non-invasive prenatal diagnosis is more accessible today and has become more preferable, prenatal invasive diagnosing still remains its importance in prenatal diagnosis. Especially in the cases with presence of abnormal ultrasound findings, invasive prenatal diagnosis should be the primary diagnostic method.</p>

Trends in Invasive Prenatal Diagnosis: Effect of Sequential Screening and Noninvasive Prenatal Testing

2015 ◽  
Vol 39 (4) ◽  
pp. 292-296 ◽  
Author(s):  
Adeeb Khalifeh ◽  
Stuart Weiner ◽  
Vincenzo Berghella ◽  
Alan Donnenfeld
Keyword(s):  
Prenatal Diagnosis ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Chorionic Villus Sampling ◽  
Invasive Procedures ◽  
Noninvasive Prenatal Testing ◽  
Sequential Screening ◽  
Period 2 ◽  
Prenatal Diagnostic ◽  
The Impact

Objective: To examine trends in the incidence and method of invasive prenatal diagnosis due to the impact of sequential screening and noninvasive prenatal testing. Methods: This is a retrospective review of all pregnancies that have undergone invasive prenatal diagnostic testing between June 2002 and June 2014, divided in 3 periods: period 1 from June 2002 to October 2006, period 2 from November 2006 to December 2011, and period 3 from January 2012 to June 2014. The main outcome measures were trends in the incidence and method of each procedure. Results: There were 88,135 deliveries and 6,080 invasive procedures during the study period. In period 1, 2,755 (8.8%) procedures were carried out, in period 2 2,820 (7.3%), and in period 3 505 (2.5%; p < 0.01). In period 1, there were 1,990 (6.3%) cases of amniocentesis, 1,646 (4.3%) in period 2, and 254 (1.2%) in period 3 (p < 0.01). In addition, in 765 (2.5%) cases, chorionic villus sampling (CVS) was performed in period 1, compared to 1,174 (3.0%) cases in period 2 and 251 (1.3%) cases in period 3 (p < 0.01). Advanced maternal age as the sole indication for invasive procedures decreased significantly over time, while the indication of abnormal serum screening and abnormal ultrasound findings increased (p < 0.01). Conclusion: There was a significant decline in the incidence of invasive prenatal testing over the 12 years of the study. The decrease in amniocentesis was more marked than that in CVS.

Determination of amputation level in ischaemic limbs using tcPO2 measurement

VASA ◽  
2005 ◽  
Vol 34 (2) ◽  
pp. 108-112 ◽  
Author(s):  
Poredos ◽  
Rakovec ◽  
Guzic-Salobir
Keyword(s):  
Threshold Value ◽  
Optimal Level ◽  
Invasive Procedures ◽  
Clinical Criteria ◽  
Amputation Level ◽  
Non Invasive ◽  
Below The Knee ◽  
Healing Wound ◽  
Primary Healing

Background: Determination of the optimal amputation level is essential for patients, morbidity and rehabilitation. Various non-invasive procedures have been proposed to determine the optimal level of amputation. There is no consensus on the minimal tcPO2 level that is required to predict the healing of the stump. Therefore we aimed to rank the probability of primary wound healing at the most distal level and to answer the question if there is a lower limit of tcPO2 below which healing cannot occur. Patients and methods: 56 consecutive patients undergoing amputation below the knee for ischaemic gangrene of limbs were prospectively enrolled in the study. 39 were men (18 of whom were diabetics) and 17 women (8 diabetics) whose ages ranged from 45 to 87 years (mean 73 years). The total of 71 amputations was performed on the 56 patients: 39 below-knee with primary healing and, in 16 patients the above-knee reamputation was performed, due to the non-healing wound on the below-knee stump. The level of the amputation (below or above the knee) was in all cases decided solely on clinical grounds. TcPO2 was measured on each patient prior to amputation, on the dorsum of the foot and 10 cm below the knee. Results: The median tcPO2 value on the dorsum of the foot of diseased legs before amputation was 12 mm Hg (range from 0 to 22 mm Hg). At the anticipated level of the amputation of the shank, the median value of tcPO2 was 28 mm Hg (8–56 mm Hg). Patients with primary healing of postoperative wounds had significantly higher values of tcPO2 than patients with failure to heal (37mm Hg; range15–56mm Hg vs.18 mm Hg; range 8–36 mm Hg, p < 0.01). The success rate increased with higher tcPO2 values at the level of amputation. The 15% prevalence of reamputations was obtained for tcPO2 values between 25 and 36 mm Hg (median value 33 mm Hg) and the threshold value of tcPO2 below which the stump failed to heal was 15 mm Hg. Conclusions: Our study showed that tcPO2 is a reliable indicator of local ischemia. The integration of this parameter with other personal clinical criteria may be a valuable help to the surgeon in decision making.

scholarly journals Paternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age

2015 ◽  
Vol 8 ◽  
pp. CCRep.S31958 ◽  
Author(s):  
Bruna C. S. Melo ◽  
Ana Portocarrero ◽  
Cláudia Alves ◽  
André Sampaio ◽  
Luisa Mota-Vieira
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Age ◽  
Marker Chromosome ◽  
Uniparental Disomy ◽  
Advanced Maternal Age ◽  
Chromosome 15 ◽  
Clinical Effects ◽  
Abnormal Karyotype ◽  
The Family ◽  
Fetal Karyotype

The detection of supernumerary marker chromosomes (SMCs) in prenatal diagnosis is always a challenge. In this study, we report a paternally inherited case of a small SMC(15) that was identified in prenatal diagnosis due to advanced maternal age. A 39-year-old woman underwent amniocentesis at 16 weeks of gestation. A fetal abnormal karyotype − 47,XX,+mar − with one sSMC was detected in all metaphases. Since this sSMC was critical in the parental decision to continue or interrupt this pregnancy, we proceeded to study the fetus and their parents. Cytogenetic and molecular analyses revealed a fetal karyotype 47,XX,+mar pat.ish idic(15)(ql2)(D15Zl++,SNRPN−-), in which the sSMC(15) was a paternally inherited inverted duplicated chromosome and did not contain the critical region of Prader–Willi/Angelman syndromes. Moreover, fetal uniparental disomy was excluded. Based on this information and normal obstetric ultrasounds, the parents decided to proceed with the pregnancy and a phenotypically normal girl was born at 39 weeks of gestation. In conclusion, the clinical effects of sSMCs need to be investigated, especially when sSMCs are encountered at prenatal diagnosis. Here, although the paternal sSMC(15) was not associated with an abnormal phenotype, its characterization allows more accurate genetic counseling for the family progeny.

scholarly journals Isolation and Enrichment of Circulating Fetal Cells for NIPD: An Overview

Diagnostics ◽  
2021 ◽  
Vol 11 (12) ◽  
pp. 2239
Author(s):  
Giulia Sabbatinelli ◽  
Donatella Fantasia ◽  
Chiara Palka ◽  
Elisena Morizio ◽  
Melissa Alfonsi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Efficiency ◽  
Diagnostic Testing ◽  
Genetic Research ◽  
Clinical Genetics ◽  
Maternal Circulation ◽  
Fetal Cells ◽  
Non Invasive ◽  
Prenatal Diagnostic ◽  
Maternal Peripheral Blood

Prenatal diagnosis plays a crucial role in clinical genetics. Non-invasive prenatal diagnosis using fetal cells circulating in maternal peripheral blood has become the goal of prenatal diagnosis, to obtain complete fetal genetic information and avoid risks to mother and fetus. The development of high-efficiency separation technologies is necessary to obtain the scarce fetal cells from the maternal circulation. Over the years, multiple approaches have been applied, including choice of the ideal cell targets, different cell recovering technologies, and refined cell isolation yield procedures. In order to provide a useful tool and to give insights about limitations and advantages of the technologies available today, we review the genetic research on the creation and validation of non-invasive prenatal diagnostic testing protocols based on the rare and labile circulating fetal cells during pregnancy.

Non-invasive prenatal diagnosis and determination of fetal Rh status

2008 ◽  
Vol 13 (2) ◽  
pp. 63-68 ◽  
Author(s):  
C. Ellen van der Schoot ◽  
Sinuhe Hahn ◽  
Lyn S. Chitty
Keyword(s):  
Prenatal Diagnosis ◽  
Non Invasive

scholarly journals Cell-free nucleic acid based non-invasive prenatal diagnosis of fetal aneuploidies

2012 ◽  
Vol 153 (43) ◽  
pp. 1687-1691
Author(s):  
Levente Lázár ◽  
Gyula Richárd Nagy ◽  
János Rigó jr. ◽  
Bálint Nagy
Keyword(s):  
Prenatal Diagnosis ◽  
Fetal Loss ◽  
Screening Methods ◽  
Clinical Implementation ◽  
Ribonucleic Acids ◽  
Non Invasive ◽  
Prenatal Diagnostic ◽  
Fetal Aneuploidies ◽  
Digital Polymerase Chain Reaction ◽  
Real Chance

Prenatal detection of fetal aneuploidies is one of the main goals of the prenatal diagnostic approach. As a benefit of the development of advanced ultrasound equipment and advances in molecular biology in the last decade, there is a significant progress in screening methods for fetal aneuploidies, although invasive methods remain the gold standard for aneuploidy detection. Non-invasive prenatal diagnosis has substantial medical impact as it targets the development of safer and more effective methods to avoid the risk of fetal loss associated with currently used invasive methods. Identification of fetal-specific messenger ribonucleic acids, digital polymerase chain reaction and next-generation sequencing give the real chance for non-invasive prenatal diagnosis of fetal aneuploidies. Although all these methods have both advantages and limitations, some of them are moving closer to clinical implementation. In this review the authors highlight the most recent advances in methods for non-invasive prenatal diagnosis of aneuploidies. Orv. Hetil., 2012, 153, 1687–1691.

scholarly journals Prenatal diagnosis and pregnancy determination of sex chromosome aneuploidy screened by non-invasive prenatal testing from 52,453 unselected singleton pregnancies: a retrospective analysis of 4-year experience

2020 ◽  
Author(s):  
Xiaojin Luo ◽  
Liang Hu ◽  
Yuanyuan Pei ◽  
Xiaoyi Cong ◽  
Xiaoyi Liu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Prenatal Testing ◽  
Low Risk ◽  
True Positive ◽  
Sex Chromosome Aneuploidy ◽  
Non Invasive ◽  
Selective Population ◽  
Ultrasound Findings ◽  
Singleton Pregnancies

Abstract Objective To estimate the positive predictive value (PPV) of fetal sex chromosome aneuploidy (SCA) screened in non-selective population and explore the rate of pregnancy termination and ultrasound findings for fetal SCA and the factors influencing parents’ decisions in South China. Methods This is a large-scale retrospective cohort of positive SCA screened from unselected singleton pregnancies by non-invasive prenatal testing (NIPT) from a single prenatal center of a tertiary hospital, from January 2016 to November 2019. Clinical information, indications, diagnostic results, ultrasound findings, pregnancy determinations, and follow-up were reviewed and analyzed. Results 248 cases of SCA positive were screened out of 52453, giving a positive detection rate of 0.47%. The majority of indications (42.7%) were low-risk pregnancies. After genetic counseling, 43 pregnancies (17.3%) declined to prenatal diagnosis, the rest of 205 cases (82.7%) conducted with amniocentesis to detect fetal chromosome, of which 95 were confirmed as true positive of SCA with PPV of 46.3% (95/205). The SCA consisted of 68 sex chromosomal trisomies (26 cases of 47,XXY, 20 cases of 47,XXX and 22 cases of 47,XYY), 17 cases of monosomy X (45,X), three cases of 48,XXYY, three cases of mosaicisms (45,X/46,XX), four cases with sex chromosomal deletions, included two cases of 46,X,del(Y)(q11.21), one case of 46,X,del(X)(p11) and one case of 46,X,i(X)(q10). Of the 95 cases confirmed as true positive SCA, 50 cases (52.6%)chose to terminate the pregnancy (82.6%, 64.3%, 17.6% and 33.3% for 45,X, 47,XXY, 47,XXX and 47,XYY, respectively), 45 cases (47.4%) elected to continue the pregnancy. Ninety-three pregnant were also continued pregnancy after the exclusion of SCA. Conclusions NIPT, as a first-tier routine method for screening autosomal aneuploidies, also could play an important role in screening SCA. Low-risk pregnant women are the main indication for the detection of SCA as NIPT test provides to non-selective population. The trend of overall termination rates of SCA-affected pregnancies is decreased. For 47,XXX and 47,XYY with mild phenotype, couples would like to continue the pregnancy. But for 45,X and 47,XXY, parents apt to terminate pregnancy no matter ultrasound abnormalities were found or not. pregnancy determinations are affected by types of SCA, sonographic findings, maternal age, and presence of infertility.

scholarly journals Prenatal diagnosis and pregnancy determination of sex chromosome aneuploidy screened by non-invasive prenatal testing from 52,453 unselected singleton pregnancies: a retrospective analysis of 4-year experience

2020 ◽  
Author(s):  
Xiaojin Luo ◽  
Liang Hu ◽  
Yuanyuan Pei ◽  
Xiaoyi Cong ◽  
Xiaoyi Liu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Prenatal Testing ◽  
Low Risk ◽  
True Positive ◽  
Sex Chromosome Aneuploidy ◽  
Non Invasive ◽  
Selective Population ◽  
Ultrasound Findings ◽  
Singleton Pregnancies

Abstract Objective To estimate the positive predictive value (PPV) of fetal sex chromosome aneuploidy (SCA) screened in non-selective population and explore the rate of pregnancy termination and ultrasound findings for fetal SCA and the factors influencing parents’ decisions in South China.Methods This is a large-scale retrospective cohort of positive SCA screened from unselected singleton pregnancies by non-invasive prenatal testing (NIPT) from a single prenatal center of a tertiary hospital, from January 2016 to November 2019. Clinical information, indications, diagnostic results, ultrasound findings, pregnancy determinations, and follow-up were reviewed and analyzed.Results 248 cases of SCA positive were screened out of 52453, giving a positive detection rate of 0.47%. The majority of indications (42.7%) were low-risk pregnancies. After genetic counseling, 43 pregnancies (17.3%) declined to prenatal diagnosis, the rest of 205 cases (82.7%) conducted with amniocentesis to detect fetal chromosome, of which 95 were confirmed as true positive of SCA with PPV of 46.3% (95/205). The SCA consisted of 68 sex chromosomal trisomies (26 cases of 47,XXY, 20 cases of 47,XXX and 22 cases of 47,XYY), 17 cases of monosomy X (45,X), three cases of 48,XXYY, three cases of mosaicisms (45,X/46,XX), four cases with sex chromosomal deletions, included two cases of 46,X,del(Y)(q11.21), one case of 46,X,del(X)(p11) and one case of 46,X,i(X)(q10). Of the 95 cases confirmed as true positive SCA, 50 cases (52.6%)chose to terminate the pregnancy (82.6%, 64.3%, 17.6% and 33.3% for 45,X, 47,XXY, 47,XXX and 47,XYY, respectively), 45 cases (47.4%) elected to continue the pregnancy. Ninety-three pregnant were also continued pregnancy after the exclusion of SCA.Conclusions NIPT, as a first-tier routine method for screening autosomal aneuploidies, also could play an important role in screening SCA. Low-risk pregnant women are the main indication for the detection of SCA as NIPT test provides to non-selective population. The trend of overall termination rates of SCA-affected pregnancies is decreased. For 47,XXX and 47,XYY with mild phenotype, couples would like to continue the pregnancy. But for 45,X and 47,XXY, parents apt to terminate pregnancy no matter ultrasound abnormalities were found or not. pregnancy determinations are affected by types of SCA, sonographic findings, maternal age, and presence of infertility.

scholarly journals Precision medicine in diabetes: A non‐invasive prenatal diagnostic test for the determination of fetal glucokinase mutations

2021 ◽  
Author(s):  
Thierry Nouspikel ◽  
Jean‐Louis Blouin ◽  
Jardena Puder ◽  
Bettina Köhler Ballan ◽  
Valerie M. Schwitzgebel
Keyword(s):  
Precision Medicine ◽  
Diagnostic Test ◽  
Non Invasive ◽  
Prenatal Diagnostic ◽  
Glucokinase Mutations
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