Revisiting the Nondirective Principle of Genetic Counseling in Prenatal Screening

2018 ◽  
pp. 99-111
Author(s):  
Sandrine de Montgolfier
Keyword(s):  
Genetic Counseling ◽  
Prenatal Screening

scholarly journals Follow-up in Patients With Non-invasive Prenatal Screening Failures: A Reflection on the Choice of Further Prenatal Diagnosis

2021 ◽  
Vol 12 ◽  
Author(s):  
Sha Liu ◽  
Hongqian Liu ◽  
Jianlong Liu ◽  
Ting Bai ◽  
Xiaosha Jing ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Detection Methods ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Non Invasive

BackgroundOur aim was to provide a theoretical basis for clinicians to conduct genetic counseling and choose further prenatal diagnosis methods for pregnant women who failed non-invasive prenatal screening (NIPS).MethodsA retrospective analysis was performed on pregnant women who had failed NIPS tests.ResultsAmong the 123,291 samples, 394 pregnant women did not obtain valid results due to test failures. A total of 378 pregnant women were available for follow-up, while 16 patients were lost to follow-up. Of these 378, 135 pregnant women chose further prenatal diagnosis through amniocentesis, and one case of dysplasia was recalled for postpartum chromosome testing. The incidence rate of congenital chromosomal abnormalities in those who failed the NIPS was 3.97% (15/378), which was higher than that of the chromosomal abnormalities in the common population (1.8%). Among the pregnant women who received prenatal diagnosis, the positive rates of chromosomal abnormalities in the chromosomal microarray analysis/copy number variation sequencing (CMA/CNV-seq) group and in the karyotyping group were 15.28 and 4.76%, respectively.ConclusionPrenatal diagnosis should be strongly recommended in posttest genetic counseling for pregnant women with NIPS failures. Further, high-resolution detection methods should be recommended for additional prenatal diagnoses.

scholarly journals THE EFFICIENCY OF DIAGNOSIS AND TREATMENT OF CONGENITAL MALFORMATIONS IN ST. PETERSBURG OVER 2006-2015

2019 ◽  
Vol 20 (4) ◽  
pp. 214-217 ◽  
Author(s):  
Anatoliy S. Simakhodskiy ◽  
O. P. Romanenko
Keyword(s):  
Quality Control ◽  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Mortality Rate ◽  
Congenital Malformations ◽  
Prenatal Screening ◽  
Diagnosis And Treatment ◽  
Causal Factors ◽  
Infant And Child Mortality ◽  
Child Mortality Rate

The dynamics of indices of diagnosis and treatment of congenital malformations (CM) in St. Petersburg for 2006-2015 is presented. CM were reveal to retain a high specific gravity and rank structure as causal factors of the infant and child mortality rate, which requires the inclusion of prenatal diagnosis in the quality control of medical care provided by insurance medical organizations. CM were established to account of about 30% in the structure of infant mortality. The authors believe that preventive education of future parents, preconceptional genetic counseling, full coverage of prenatal screening of pregnant women and active work of ethical commissions, will reduce the frequency of births of children with CM.

scholarly journals Next-Generation Counseling: Noninvasive Prenatal Screening Results Disclosure and Management

2018 ◽  
Author(s):  
Aishwarya Arjunan ◽  
Rotem Ben-Shachar ◽  
Jamie Kostialik ◽  
Katherine Johansen Taber ◽  
Gabriel Lazarin ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Prenatal Screening ◽  
Genetic Counselor ◽  
Large Population ◽  
Previous History ◽  
Technology Platform ◽  
Noninvasive Prenatal Screening ◽  
On Demand ◽  
Negative Results ◽  
Results Disclosure

Background: As noninvasive prenatal screening usage grows in the general obstetrics setting, proper patient education on the screen’s benefits and limitations is needed. Objective: Describe the use of a technology platform designed for large-scale dissemination of noninvasive prenatal screening information and results. Study Design: The technology platform functioned as follows: Patients were emailed a link to an noninvasive prenatal screening general-education video upon laboratory receipt of a test requisition. Providers were then notified upon availability of patients’ results. If noninvasive prenatal screening results were negative, the patient was sent an automated email with instructions to access results through a secure portal where she could watch tailored informational videos, request “on-demand” or scheduled genetic counseling, or decline any further services. If genetic counseling was elected, a summary of the session was sent to the ordering provider and patient upon completion. If noninvasive prenatal screening results were positive, either the ordering provider or a board-certified genetic counselor contacted the patient directly to communicate test results and provide counseling. The number and type of results issued through the platform, the number and type of genetic counseling consultations completed, and factors associated with requesting laboratory-delivered genetic counseling were tracked and analyzed for a 39-month period. Results: Over the study period, 67,122 noninvasive prenatal screening results were issued through the platform, and 4,673 patients elected genetic counseling consultations; 95.2% (n=4,450) of consultations were for patients receiving negative results. Over 70% (n= 3,370) of consultations were on-demand rather than scheduled. Median consultation time was 14 minutes for positive results and six minutes for negative results. A positive screen, advanced maternal age, family history, previous history of a pregnancy with a chromosomal abnormality, and other high-risk pregnancy were associated with the greatest odds of electing laboratory-delivered genetic counseling.Conclusions: By combining web education, automated notifications, and genetic counseling, we implemented a service that effectively facilitates results disclosure for ordering providers. These data demonstrate the capability to deliver noninvasive prenatal screening results, education, and counseling—congruent with management guidelines—to a large population, which is imperative to quality care as uptake increases.

scholarly journals Down Syndrome: Clinical and Genetic Aspects, Genetic Counseling and Prenatal Screening and Diagnosis

Down Syndrome ◽  
10.5772/52950 ◽  
2013 ◽  
Author(s):  
Erika Cristina ◽  
Joice Matos ◽  
Walter Pinto ◽  
Eny Maria Goloni Bertollo
Keyword(s):  
Down Syndrome ◽  
Genetic Counseling ◽  
Prenatal Screening ◽  
Screening And Diagnosis

Group genetic counseling: An alternate service delivery model in a high risk prenatal screening population

2017 ◽  
Vol 37 (11) ◽  
pp. 1112-1119 ◽  
Author(s):  
Mireille Cloutier ◽  
Lauren Gallagher ◽  
Claire Goldsmith ◽  
Salwa Akiki ◽  
Nick Barrowman ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
High Risk ◽  
Service Delivery ◽  
Prenatal Screening ◽  
Service Delivery Model ◽  
Delivery Model ◽  
Screening Population

Foundations of Perinatal Genetic Counseling

2018 ◽  
Author(s):  
Amber Mathiesen ◽  
Kali Roy
Keyword(s):  
Genetic Counseling ◽  
High Risk ◽  
Assisted Reproductive Technology ◽  
Prenatal Screening ◽  
Genetic Counselor ◽  
Reproductive Technology ◽  
High Risk Pregnancy ◽  
Chorionic Villus Sampling ◽  
Pregnancy History ◽  
Risk Pregnancy

Foundations of Perinatal Genetic Counseling provides an overview of the core concepts needed to practice perinatal genetic counseling, including the basics of pregnancy, the genetic counseling appointment, family and pregnancy history, prenatal screening, prenatal diagnosis, common indications, carrier screening, management of high-risk pregnancy, assisted reproductive technology, preimplantation genetic screening and diagnosis, and common situations arising in perinatal genetic counseling. It discusses general obstetrical information as it pertains to perinatal genetic counseling, including topics such as calculating gestational age, understanding gravidity and parity, and reproductive options. This book reviews the key components of a perinatal genetic counseling session and how to take a perinatal family, medical, and pregnancy history, as well as a prenatal risk evaluation based on age, family and pregnancy history, testing results, and ultrasound findings. It includes a detailed description of both prenatal screening and diagnostic testing options, including maternal serum screening, cell-free DNA testing, amniocentesis, and chorionic villus sampling. It also provides an explanation of carrier testing, including methods of testing, types of conditions, and indications for testing. This text provides information on the indications for referral to a perinatal genetic counselor such as age-related risks, personal and family history, ultrasound anomalies, teratogen exposure, recurrent pregnancy loss, and preconception counseling. It also reviews the management and types of referrals made in a high-risk pregnancy. Assisted reproductive technology is reviewed as well as descriptions of preimplantation genetic diagnosis and screening. It also describes common psychosocial and ethical situations encountered in perinatal genetic counseling.

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