Prenatal Screening and Diagnosis

2018 ◽  
Author(s):  
Barbara O’Brien ◽  
Emily Willner
Keyword(s):  
Diagnostic Testing ◽  
Chorionic Villus ◽  
Clinical History ◽  
Maternal Serum ◽  
Specific Gene ◽  
Chorionic Villus Sampling ◽  
Genetic Syndromes ◽  
Cell Free Dna ◽  
Free Dna ◽  
Ultrasound Evaluation

Prenatal genetic testing offers patients and providers the opportunity to screen for aneuploidy, genetic syndromes, and congenital malformations during pregnancy. Screening options include taking a clinical history, evaluation of maternal serum markers or noninvasive cell-free DNA, and ultrasound evaluation during the first and second trimesters. Invasive diagnostic testing such as amniocentesis or chorionic villus sampling allows for further investigation of positive screening results and a directed test to identify aneuploidy as well as specific gene mutations and gain, loss, or rearrangement of genetic information. Laboratory methods for testing fetal samples differ by types of genetic abnormalities that can be detected and turnaround time for results; these methods include karyotype, fluorescence in situ hybridization, and microarray.   This review contains 5 figures, 5 tables and 43 references Key words: amniocentesis, aneuploidy, cell-free DNA, chorionic villus sampling, karyotype, microarray, prenatal genetic screening, ultrasonography  

Prenatal Screening and Diagnosis

2018 ◽  
Author(s):  
Barbara O’Brien ◽  
Emily Willner
Keyword(s):  
Diagnostic Testing ◽  
Chorionic Villus ◽  
Clinical History ◽  
Maternal Serum ◽  
Specific Gene ◽  
Chorionic Villus Sampling ◽  
Genetic Syndromes ◽  
Cell Free Dna ◽  
Free Dna ◽  
Ultrasound Evaluation

Prenatal genetic testing offers patients and providers the opportunity to screen for aneuploidy, genetic syndromes, and congenital malformations during pregnancy. Screening options include taking a clinical history, evaluation of maternal serum markers or noninvasive cell-free DNA, and ultrasound evaluation during the first and second trimesters. Invasive diagnostic testing such as amniocentesis or chorionic villus sampling allows for further investigation of positive screening results and a directed test to identify aneuploidy as well as specific gene mutations and gain, loss, or rearrangement of genetic information. Laboratory methods for testing fetal samples differ by types of genetic abnormalities that can be detected and turnaround time for results; these methods include karyotype, fluorescence in situ hybridization, and microarray.   This review contains 5 figures, 5 tables and 43 references Key words: amniocentesis, aneuploidy, cell-free DNA, chorionic villus sampling, karyotype, microarray, prenatal genetic screening, ultrasonography  

Prenatal Screening and Diagnosis

2018 ◽  
Author(s):  
Barbara O’Brien ◽  
Emily Willner
Keyword(s):  
Diagnostic Testing ◽  
Chorionic Villus ◽  
Clinical History ◽  
Maternal Serum ◽  
Specific Gene ◽  
Chorionic Villus Sampling ◽  
Genetic Syndromes ◽  
Cell Free Dna ◽  
Free Dna ◽  
Ultrasound Evaluation

Prenatal genetic testing offers patients and providers the opportunity to screen for aneuploidy, genetic syndromes, and congenital malformations during pregnancy. Screening options include taking a clinical history, evaluation of maternal serum markers or noninvasive cell-free DNA, and ultrasound evaluation during the first and second trimesters. Invasive diagnostic testing such as amniocentesis or chorionic villus sampling allows for further investigation of positive screening results and a directed test to identify aneuploidy as well as specific gene mutations and gain, loss, or rearrangement of genetic information. Laboratory methods for testing fetal samples differ by types of genetic abnormalities that can be detected and turnaround time for results; these methods include karyotype, fluorescence in situ hybridization, and microarray.   This review contains 5 figures, 5 tables and 43 references Key words: amniocentesis, aneuploidy, cell-free DNA, chorionic villus sampling, karyotype, microarray, prenatal genetic screening, ultrasonography  

scholarly journals Circulating cell-free DNA levels increase variably following chorionic villus sampling

2010 ◽  
Vol 30 (4) ◽  
pp. 325-328 ◽  
Author(s):  
Neeta L. Vora ◽  
Kirby L. Johnson ◽  
Inga Peter ◽  
Hocine Tighiouart ◽  
Steven J. Ralston ◽  
...  
Keyword(s):  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Cell Free Dna ◽  
Free Dna ◽  
Circulating Cell Free Dna

Chorionic villus sampling fails to confirm mosaic trisomy 21 fetus after positive cell-free DNA

2017 ◽  
Vol 37 (3) ◽  
pp. 296-298 ◽  
Author(s):  
Kristen Uquillas ◽  
Yen Chan ◽  
Jennifer R. King ◽  
Linda M. Randolph ◽  
Marc Incerpi
Keyword(s):  
Trisomy 21 ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Cell Free Dna ◽  
Free Dna ◽  
Mosaic Trisomy

scholarly journals A New Model for Providing Cell-Free DNA and Risk Assessment for Chromosome Abnormalities in a Public Hospital Setting

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Robert Wallerstein ◽  
Andrea Jelks ◽  
Matthew J. Garabedian
Keyword(s):  
Risk Assessment ◽  
Genetic Counseling ◽  
Patient Education ◽  
Chorionic Villus ◽  
First Trimester ◽  
Chorionic Villus Sampling ◽  
Cell Free Dna ◽  
Free Dna ◽  
Integrated Screening ◽  
Cfdna Screening

Objective. Cell-free DNA (cfDNA) offers highly accurate noninvasive screening for Down syndrome. Incorporating it into routine care is complicated. We present our experience implementing a novel program for cfDNA screening, emphasizing patient education, genetic counseling, and resource management.Study Design. Beginning in January 2013, we initiated a new patient care model in which high-risk patients for aneuploidy received genetic counseling at 12 weeks of gestation. Patients were presented with four pathways for aneuploidy risk assessment and diagnosis: (1) cfDNA; (2) integrated screening; (3) direct-to-invasive testing (chorionic villus sampling or amniocentesis); or (4) no first trimester diagnostic testing/screening. Patients underwent follow-up genetic counseling and detailed ultrasound at 18–20 weeks to review first trimester testing and finalize decision for amniocentesis.Results. Counseling and second trimester detailed ultrasound were provided to 163 women. Most selected cfDNA screening (69%) over integrated screening (0.6%), direct-to-invasive testing (14.1%), or no screening (16.6%). Amniocentesis rates decreased following implementation of cfDNA screening (19.0% versus 13.0%,P<0.05).Conclusion. When counseled about screening options, women often chose cfDNA over integrated screening. This program is a model for patient-directed, efficient delivery of a newly available high-level technology in a public health setting. Genetic counseling is an integral part of patient education and determination of plan of care.

scholarly journals Cell-Free DNA as an Addition to Ultrasound for Screening of a Complete Hydatidiform Mole and Coexisting Normal Fetus Pregnancy: A Case Report

2020 ◽  
Vol 10 (02) ◽  
pp. e176-e178
Author(s):  
Martina G. Gabra ◽  
Maritza G. Gonzalez ◽  
Holly N. Bullock ◽  
Meghan G. Hill
Keyword(s):  
Hydatidiform Mole ◽  
Uniparental Disomy ◽  
Chorionic Villus ◽  
Chorionic Villus Sampling ◽  
Molar Pregnancy ◽  
Complete Hydatidiform Mole ◽  
Cell Free Dna ◽  
Normal Fetus ◽  
Free Dna ◽  
Pathological Evaluation

Abstract Background Complete hydatidiform mole and coexisting normal fetus pregnancies (CHMCF) are rare and can be life-threatening to the mother. Definitive diagnosis can be made with chorionic villus sampling or amniocentesis. However invasive procedures carry a risk of bleeding. We present the case of a twin molar pregnancy where a cell-free DNA screening test was utilized to evaluate for CHMCF pregnancy. Case A patient presented at 15-week gestational age with suspected CHMCF pregnancy. Ultrasound revealed a normal-appearing pregnancy abutting a multicystic lesion concerning for a complete mole. Cell-free DNA was obtained and was suggestive of complete paternal uniparental disomy. Pathological evaluation of the products of conception confirmed the diagnosis of CHMCF. Conclusion In atypical cases, cell-free DNA may be useful in evaluation of molar pregnancy.

Cell free DNA: revolution in molecular diagnostics – the journey so far

2020 ◽  
Vol 41 (1) ◽  
Author(s):  
Kajal Nandi ◽  
Rashmi Verma ◽  
Rajni Dawar ◽  
Binita Goswami
Keyword(s):  
Chorionic Villus ◽  
Prenatal Testing ◽  
Blood Stream ◽  
The Body ◽  
Chorionic Villus Sampling ◽  
Cell Free Dna ◽  
Genetic Profiling ◽  
Non Invasive ◽  
Free Dna

AbstractCell free DNA (cf-DNA) refers to all non -ncapsulated DNA present in the blood stream which may originate from apoptotic cells as a part of the physiological cell turnover, or from cancer cells or fetal cells. Recent studies have highlighted the utility of cfDNA analysis for genetic profiling of cancer, non-invasive prenatal testing besides many other clinical applications. In our review we discuss the sources of cfDNA in the body, the techniques most commonly being used for its isolation and analysis, the applications of cfDNA testing and the associated pros-cons. We conclude that for prenatal testing, cfDNA analysis provides an effective, non-invasive and safer alternative to traditional amniocentesis and chorionic villus sampling tests. Also, in cancer patients, cfDNA analysis is useful for genetic profiling and follow-up during treatment. However, standardization of methods of isolation and analysis has become crucial for the success of widespread use of cfDNA analysis.

scholarly journals Cell Free DNA Analysis for Chromosomal Abnormalities among Pregnant Females of Pakistan

2020 ◽  
pp. 1-10
Author(s):  
Aliya Irshad Sani ◽  
Sajjad Ali ◽  
Taha Sohail ◽  
Sadia Farrukh
Keyword(s):  
High Risk ◽  
Genomic Medicine ◽  
Chorionic Villus ◽  
Developed Countries ◽  
Screening Tools ◽  
Screening Tests ◽  
Chorionic Villus Sampling ◽  
Cell Free Dna ◽  
Free Dna ◽  
Cell Free Fetal Dna

The advancement of modern molecular biology techniques has made it possible to detect fetal anomalies beforehand in order to tackle the upcoming situation. However, the idea is to devise the most sensitive screening tools with fewer chances of errors as well as noninvasive methods to diagnose fetal abnormalities. Previously used methods amniocentesis and chorionic villus sampling possess risks for the fetus on the other hand cell free fetal DNA (cffDNA) method is less invasive and reduces the risk to fetus. However, currently most cffDNA screening tests routinely evaluate fetal sex and sex chromosomal aneuploidies while in developed countries analysis of cffDNA is incorporated in high-risk pregnancies to detect the defects and mutations. In Pakistan where the prevalence of birth defect is reported approximately 7% as well as increased consanguineous marriages increase the chance of such defects. Centers in Pakistan offer cffDNA testing but with a hefty cost on the pocket. This review highlights the importance and prospects of exploring the maternal plasma Cell-free DNA (cfDNA) screening in high risk mothers in Pakistan as well as the limitations and strengths of the technique. Since the cffDNA sequencing is a major advancement in genomic medicine that has reduced the invasive procedures in clinical medicine.

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