Prenatal diagnosis

2020 ◽  
pp. 141-150
Author(s):  
Ana Piñas Carrillo ◽  
Amarnath Bhide
Keyword(s):  
Prenatal Diagnosis ◽  
Biochemical Markers ◽  
Detection Rate ◽  
Main Tool ◽  
Fetal Anomaly ◽  
Antenatal Screening ◽  
Ultrasound Scan ◽  
The United Kingdom ◽  
Structural Abnormalities ◽  
Routine Antenatal Care

Prenatal diagnosis commenced in the 1980s as part of routine antenatal care in the United Kingdom. Ultrasonography has become widely spread and the main tool to screen for fetal structural abnormalities and chromosomal defects together with biochemical markers. Standardization of routine antenatal screening has only been introduced recently by the National Health Service Fetal Anomaly Screening Programme (FASP) in an attempt to achieve uniformity in prenatal diagnosis around the country. A series of recommendations were made including 11 fetal conditions with a detection rate of more than 50% that should be routinely screened for in any centre in the country. Any ultrasound scan should be performed in a systematic fashion ensuring examination of every system in the fetal anatomy. It is essential to become familiarized with the normal fetal anatomy and the most common structural abnormalities and referral to a centre with appropriate expertise is imperative if any abnormality is suspected.

Antenatal diagnosis and pre-implantation genetic testing

2018 ◽  
Author(s):  
Frances Flinter
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Molecular Level ◽  
Antenatal Diagnosis ◽  
Genetic Diagnosis ◽  
Recurrence Risk ◽  
Antenatal Screening ◽  
Ultrasound Scan ◽  
Specific Diagnosis ◽  
Non Invasive

Routine pregnancy screening (e.g. ultrasound scan) may lead unexpectedly to the identification of an underlying renal problem whose aetiology may not be apparent immediately. It is important to recognize genetic causes so that associated problems in other organs can be anticipated and the recurrence risk for future pregnancies established. Specific diagnosis at a cytogenetic or molecular level may be essential if the options of early prenatal diagnosis or pre-implantation genetic diagnosis are to be available to the couple in future pregnancies. This chapter discusses the topics of antenatal screening, prenatal diagnosis (including invasive and non-invasive diagnosis and counselling) and intervention, and pre-implantation genetic diagnosis.

Application of Combined Ultrasound and Maternal Serum Biochemical Indexes in the Detection of Fetal Structural Abnormalities and Chromosomal Abnormalities

2021 ◽  
Vol 11 (7) ◽  
pp. 1920-1928
Author(s):  
Guowei Han ◽  
Tianliang Jin ◽  
Li Zhang ◽  
Chen Guo ◽  
Hua Gui ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Early Pregnancy ◽  
Chromosomal Abnormality ◽  
Detection Rate ◽  
Chromosomal Abnormalities ◽  
Umbilical Vein ◽  
Maternal Serum ◽  
Ultrasound Screening ◽  
Structural Abnormalities

By exploring different prenatal diagnosis indications of fetal chromosomal abnormalities, it can provide a theoretical basis and reference value for clinical consultation of pregnant women with similar high-risk factors. In this paper, 1800 pregnant women undergoing amniotic fluid aspiration chromosomal examination in the prenatal diagnosis center were selected as the object of this study. Amniocentesis, fetal cell culture, and karyotype analysis were performed on pregnant women who were 14-20 weeks pregnant and had signed an informed consent. After amniocentesis fetal chromosome analysis, the type of fetal chromosomal abnormality was determined, and the detection rate of chromosomal abnormality was statistically described. Chi-square test was used for comparison between groups, P < 0.05. This study shows that the use of ultrasound screening combined with maternal serum indicators is effective in screening fetal structural abnormalities and chromosomal abnormalities in early pregnancy, and significantly improves the detection rate of chromosomal abnormalities. The detection of fetal structural malformations is also very high, but it should be combined with ultrasound screening of mid-to-late pregnancy. The tricuspid regurgitation and umbilical vein a-wave reversal in the soft ultrasound index can be used as predictors of fetal congenital heart disease in early pregnancy.

scholarly journals Performance of a New Microfluidic Dengue NS1 Immuno-magnetic Agglutination Assay for the Rapid Diagnosis of Dengue Infection in Adults

2021 ◽  
Author(s):  
Ekkarat Wongsawat ◽  
Yupin Suputtamongkol ◽  
Susan Assanasaen ◽  
Saowaluk Silpasakorn ◽  
Panisadee Avirutnan ◽  
...  
Keyword(s):  
Detection Rate ◽  
Nonstructural Protein ◽  
Dengue Infection ◽  
Main Tool ◽  
Rapid Diagnosis ◽  
Detection Methods ◽  
Health Concern ◽  
Diagnostic Purpose ◽  
Agglutination Assay ◽  
Nonstructural Protein 1

Dengue (DENV) infections are a public health concern worldwide and thus early diagnosis is important to ensure appropriate clinical management. The rapid diagnostic test (RDT) targets nonstructural protein 1 (NS1) detection and is the main tool used for diagnostic purpose. In this study, we evaluated the performance of a new rapid and semi-quantitative microfluidic DENV NS1 immuno-magnetic agglutination assay or IMA (ViroTrack Dengue Acute, BluSense Diagnostics, Copenhagen, Denmark). We studied 233 subjects confirmed to have DENV infection (by a real-time reverse transcriptase polymerase chain reaction) and 200 control samples were taken from patients with confirmed diagnoses of other febrile illnesses, in Thailand. Samples were tested using the NS1 antigen (Ag) detection methods: in-house NS1 Ag ELISA (ELISA), SD BIOLINE Dengue NS1 Ag RDT (ICT), and ViroTrack Dengue Acute (IMA). Sensitivities of these tests were 86.3%, 78.9%, and 85.5%, respectively. All tests showed high specificity (100%, 99%, and 97% for ELISA, ICT, and IMA, respectively). The sensitivities of both RDTs were affected by the low sensitivity to DENV-2 and DENV-4. NS1 Ag was detected in every patient on day 1 and day 2 after onset of illness by ELISA and IMA with a decline in detection rates over time after day 6 of illness. NS1 detection rate using ICT decreased from 100% on day 1 of illness to 98.6% on day 2 after onset of illness. By day 6, the detection rate was 45.9%. Thus, IMA performed better than ICT for early and rapid diagnosis of DENV infections in endemic countries.

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

2012 ◽  
Vol 15 (Supplement) ◽  
pp. 17-26 ◽  
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.

The Mechanism of Shifting From Direct Monetary Policies to Indirect Monetary Policies

2021 ◽  
Vol 39 (11) ◽  
Author(s):  
Saad Khalaf ◽  
Abdul Rahman Abdul Ridha ◽  
Hussein Habeeb
Keyword(s):  
Interest Rate ◽  
Main Tool ◽  
The United States ◽  
The European Union ◽  
Monetary Policies ◽  
Policy Makers ◽  
The United Kingdom ◽  
The World ◽  
New Policies ◽  
The Interest Rate

After 2008, a new term appeared on monetary policies after the direct monetary policies failed to reach a solution to the economic deficit that occurred in the economies of many countries, especially after the mortgage crisis that plagued the financial markets in most countries of the world, as these countries tried to reduce the interest rate to Zero or close to it in order to move the economy, but it did not respond despite the fact that the interest rate is the main tool and is considered the control stick in direct monetary policies.  Thus, it became imperative for those countries to use new tools in order to get out of that crisis. Japan is considered the first to use these new policies and solutions before that period, and he is the first to call them indirect monetary policies. These tools were called by many names, including quantitative easing, credit facilitation and others. Many names, but it was the best solution by monetary policy makers for many countries, including the United States of America, the United Kingdom of Britain and the European Union, which represent the most powerful economies in the world,

scholarly journals EP19.22: Detection rate and outcome of small‐for‐gestational‐age fetuses using a routine third trimester ultrasound scan in our population

2019 ◽  
Vol 54 (S1) ◽  
pp. 357-358
Author(s):  
N. Dominguez ◽  
B. Gómez Alonso ◽  
A. Betegón Putze ◽  
P. Beira Salvador ◽  
C. Montes Prieto
Keyword(s):  
Gestational Age ◽  
Small For Gestational Age ◽  
Detection Rate ◽  
Ultrasound Scan ◽  
Third Trimester

scholarly journals Prenatal diagnosis of varix of the fetal intraabdominal umbilical vein: Case report

2008 ◽  
Vol 61 (1-2) ◽  
pp. 75-78 ◽  
Author(s):  
Aleksandra Novakov-Mikic ◽  
Sinisa Stojic
Keyword(s):  
Blood Flow ◽  
Case Report ◽  
Prenatal Diagnosis ◽  
Anterior Abdominal Wall ◽  
Umbilical Vein ◽  
Color Doppler ◽  
Contemporary Literature ◽  
Ultrasound Scan ◽  
Lower Edge ◽  
Doppler Examination

Varix of intraabdominal part of fetal umbilical vein is during a prenatal ultrasound scan seen as a hypoechogenic mass between anterior abdominal wall and lower edge of liver, and the diagnosis is confirmed when blood flow is seen during color Doppler examination. A case of prenatal diagnosis of this abnormality is presented, with review of contemporary literature regarding diagnosis and management as well as the outcome of such pregnancies.

scholarly journals Prenatal diagnosis and detection rate of fetal lipomeningomyelocele

2003 ◽  
Vol 29 (5) ◽  
pp. S49
Author(s):  
D. Pugash ◽  
B. Irwin ◽  
P. Thiessen ◽  
K. Poskitt ◽  
D. Cochrane
Keyword(s):  
Prenatal Diagnosis ◽  
Detection Rate
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