Linking NIPT and Carrier Testing for Better Maternal and Fetal Health

2021 ◽  
Vol 8 (6) ◽  
pp. 14-18
Author(s):  
Helen Albert
Keyword(s):  
Carrier Testing ◽  
Fetal Health

USING DOPPLER TO ASSESS THE FETAL HEALTH FOR THE PREDICTION OF GESTATIONAL OUTCOME

2014 ◽  
pp. 9-18
Author(s):  
Thi Linh Giang Truong ◽  
Vu Quoc Huy Nguyen
Keyword(s):  
Middle Cerebral Artery ◽  
Cerebral Artery ◽  
Umbilical Artery ◽  
Functional Method ◽  
Invasive Technique ◽  
Routine Practice ◽  
Fetal Health ◽  
Uterine Arteries ◽  
Non Invasive ◽  
Key Words Doppler

Background: Assessment of fetal health plays the most important role in prenatal care because of influence of the prediction of gestational outcome. One of the main aims of routine antenatal care is to identify the ‘ at risk ‘ fetus in order to apply clinical interventions which could results in reduced perinatal morbidity and mortality. Doppler ultrasound is a non invasive technique whereby the movement of blood is studied by detecting the change in frequence of reflected sound, Doppler blood flow velocity waves form of fetal side (umbilical artery, middle cerebral artery ...) and maternal side ( uterine arteries) are discussed and monograms for routine practice are presented. Recently this method is important tool for qualifying high risk pregnancies and help early forecasts the health of the babies and mothers disorder. Doppler sonography in obstetrics is a widely accepted functional method of examining the prediction of gestational outcome. Key words: Doppler, umbilical artery, middle cerebral artery, uterine arteries

scholarly journals Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

2021 ◽  
Author(s):  
Suzanne C. E. H. Sallevelt ◽  
Alexander P. A. Stegmann ◽  
Bart de Koning ◽  
Crool Velter ◽  
Anja Steyls ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Rare Variants ◽  
Clinical Care ◽  
Carrier Testing ◽  
Carrier Status ◽  
Routine Diagnostics ◽  
Affected Offspring ◽  
Pathogenic Variants ◽  
Increased Risk ◽  
Genetics And Genomics

Abstract Purpose Consanguineous couples are at increased risk of being heterozygous for the same autosomal recessive (AR) disorder(s), with a 25% risk of affected offspring as a consequence. Until recently, comprehensive preconception carrier testing (PCT) for AR disorders was unavailable in routine diagnostics. Here we developed and implemented such a test in routine clinical care. Methods We performed exome sequencing (ES) for 100 consanguineous couples. For each couple, rare variants that could give rise to biallelic variants in offspring were selected. These variants were subsequently filtered against a gene panel consisting of ~2,000 genes associated with known AR disorders (OMIM-based). Remaining variants were classified according to American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines, after which only likely pathogenic and pathogenic (class IV/V) variants, present in both partners, were reported. Results In 28 of 100 tested consanguineous couples (28%), likely pathogenic and pathogenic variants not previously known in the couple or their family were reported conferring 25% risk of affected offspring. Conclusion ES-based PCT provides a powerful diagnostic tool to identify AR disease carrier status in consanguineous couples. Outcomes provided significant reproductive choices for a higher proportion of these couples than previous tests.

scholarly journals Challenges in Providing Residual Risks in Carrier Testing

2021 ◽  
Author(s):  
Robert Luke Nussbaum ◽  
Robert Nathan Slotnick ◽  
Neil J. Risch
Keyword(s):  
Carrier Testing

Webster and the Fundamental Right to Make Medical Decisions

1989 ◽  
Vol 15 (2-3) ◽  
pp. 184-188
Author(s):  
David Orentlicher
Keyword(s):  
Health Care ◽  
Health Care Professionals ◽  
The State ◽  
Medical Decisions ◽  
Fetal Health ◽  
Religious Issues ◽  
Roe V Wade

The interest of the eight major organizations of health care professionals was not in debating the philosophical, ethical, moral or religious issues surrounding abortion. The members of the organizations differ on how to balance the woman's privacy right against the state's interests in maternal and fetal health, and in particular about whether the state has a compelling interest in fetal health before viability. Given the diversity of views, the brief neither endorsed nor opposed the Supreme Court's holding in Roe v. Wade that the state's interest in fetal health becomes compelling at viability.

Carrier testing in the fragile X syndrome: Attitudes and opinions of obligate carriers

1997 ◽  
Vol 68 (1) ◽  
pp. 62-69 ◽  
Author(s):  
Allyn McConkie-Rosell ◽  
Gail A. Spiridigliozzi ◽  
Timothy Iafolla ◽  
Jack Tarleton ◽  
Ave M. Lachiewicz
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Carrier Testing

Fetal Health Surveillance: Antepartum and Intrapartum Consensus Guideline

2007 ◽  
Vol 29 (9) ◽  
pp. S3-S4 ◽  
Author(s):  
Robert Liston ◽  
Diane Sawchuck ◽  
David Young ◽  
Normand Brassard ◽  
Kim Campbell ◽  
...  
Keyword(s):  
Health Surveillance ◽  
Consensus Guideline ◽  
Fetal Health

scholarly journals Genetic Testing for Minors: Comparison between Italian and British Guidelines

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Pamela Tozzo ◽  
Luciana Caenazzo ◽  
Daniele Rodriguez
Keyword(s):  
Clinical Practice ◽  
Genetic Testing ◽  
Ethical Issues ◽  
Social Issues ◽  
Carrier Testing ◽  
European Countries ◽  
National Guidelines ◽  
Common Framework ◽  
Professional Guidelines

Genetic testing in children raises many important ethical, legal, and social issues. One of the main concerns is the ethically inappropriate genetic testing of minors. Various European countries established professional guidelines which reflect the different countries perspectives regarding the main ethical issues involved. In this paper, we analyze the Italian and the British guidelines by highlighting differences and similarities. We discuss presymptomatic, predictive, and carrier testing because we consider them to be the more ethically problematic types of genetic testing in minors. In our opinion, national guidelines should take into account the different needs in clinical practice. At the same time, in the case of genetic testing the national and supranational protection of minors could be strengthened by approving guidelines based on a common framework of principles and values. We suggest that the Oviedo Convention could represent an example of such a common framework or, at least, it could lead to articulate it.

scholarly journals Minors and informed consent in carrier testing: a survey of European clinical geneticists

2008 ◽  
Vol 34 (5) ◽  
pp. 370-374 ◽  
Author(s):  
P Borry ◽  
L Stultiens ◽  
T Goffin ◽  
H Nys ◽  
K Dierickx
Keyword(s):  
Informed Consent ◽  
Carrier Testing
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