Expanded carrier screening for reproductive risk assessment: an evidence‐based practice guideline from the National Society of Genetic Counselors

KG Sagaser, J Malinowski, L Westerfield… - Journal of genetic …, 2023 - Wiley Online Library
Expanded carrier screening (ECS) intends to broadly screen healthy individuals to
determine their reproductive chance for autosomal recessive (AR) and X‐linked (XL) …

[HTML][HTML] Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions

J Hoskovec, EE Hardisty, AN Talati, JA Carozza… - Genetics in …, 2023 - Elsevier
Purpose The purpose of this study was to evaluate the clinical performance of carrier
screening for cystic fibrosis, hemoglobinopathies, and spinal muscular atrophy with reflex …

Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting

J Wynn, J Hoskovec, RD Carter, MJ Ross… - Prenatal …, 2023 - Wiley Online Library
Objective Carrier screening with reflex to single‐gene noninvasive prenatal testing (sgNIPT)
is an alternative approach for identifying pregnancies at risk for inherited autosomal …

Barriers to completion of expanded carrier screening in an inner city population

TS Strauss, E Schneider, E Boniferro, E Brockhoff… - Genetics in …, 2023 - Elsevier
Abstract Purpose The American College of Medical Genetics and Genomics emphasizes a
“consistent and equitable approach for offering carrier screening.” At our academic center …

An ESHG–ESHRE survey on the current practice of expanded carrier screening in medically assisted reproduction

A Capalbo, G de Wert, L Henneman… - Human …, 2024 - academic.oup.com
STUDY QUESTION What is the current practice and views on (expanded) carrier screening
((E) CS) among healthcare professionals in medically assisted reproductive (MAR) practices …

An ethical argument for health insurance coverage of paternal prenatal genetic testing

MT Nguyen, L Campo-Engelstein, RH Lee… - Obstetrics & …, 2023 - journals.lww.com
Despite evidence-based recommendations from the American College of Obstetricians and
Gynecologists and the American College of Medical Genetics to offer prenatal genetic …

Reflex single-gene non-invasive prenatal testing is associated with markedly better detection of fetuses affected with single-gene recessive disorders at lower cost

S Riku, H Hedriana, JA Carozza… - Journal of Medical …, 2022 - Taylor & Francis
Objective To evaluate the clinical benefits and achievable cost savings associated with the
adoption of a carrier screen with reflex single-gene non-invasive prenatal test (sgNIPT) in …

Response to Benn et al

AN Talati, M Russo, C Wagner, J Wynn… - Genetics in …, 2023 - gimjournal.org
We appreciate the opportunity to respond to Dr. Benn's correspondence regarding our
article “Maternal carrier screening with single-gene NIPS provides accurate fetal risk …

[HTML][HTML] The completion of indicated paternal prenatal genetic and carrier testing at a public hospital in Los Angeles, California

MT Nguyen, G Mazza, BT Nguyen - Genetics in Medicine Open, 2023 - Elsevier
Purpose Pregnant individuals are routinely advised to undergo genetic carrier screening,
followed by carrier screening in the reproductive partner if the patient's screen is positive …

Every mother and every fetus matters: A positive pregnancy test= multiple offerings of reproductive risk screening for personal, family, and specific obstetrical‐fetal …

RD Wilson - International Journal of Gynecology & Obstetrics, 2022 - Wiley Online Library
Objective To focus on the evidence‐based screening test options and timing as part of the
overall “pregnant‐woman‐centered” preconception and prenatal care journey. The …