Results 61 to 70 of about 19,473 (244)

An Economic Model of Amniocentesis Choice [PDF]

open access: yes
Medical practitioners typically utilize the following protocol when advising pregnant women about testing for the possibility of genetic disorders: Pregnant women over the age of 35 should be tested for Down syndrome and other genetic disorders; for ...
V. Joseph Hotz   +2 more
core  

Down Syndrome Due to Unbalanced Homologous Acrocentric Rearrangements and its Recurrence in Subsequent Pregnancies: Prenatal Diagnosis by Amniocentesis

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2009
Objective: To present our experience of amniocentesis for the prenatal diagnosis of Down syndrome due to unbalanced homologous acrocentric rearrangements and its recurrence in subsequent pregnancies.
Chih-Ping Chen   +6 more
doaj   +1 more source

Darier disease—A review highlighting new insights from the Darier Disease International Task Force

open access: yesJournal of the European Academy of Dermatology and Venereology, EarlyView.
This review provides a global, clinically focused overview of DD, detailing cutaneous and extracutaneous manifestations, disease classification and severity scoring. It emphasizes early recognition, multidisciplinary management and practical guidance for dermatologists to apply evidence‐based care in diverse skin phototypes. Abstract Darier disease (DD)
Sofia Labbouz   +49 more
wiley   +1 more source

The Patient, the Provider, and the TikTok Creator: Qualitative Analysis of the Content and Quality of Videos on Prenatal Genetic Screening

open access: yesJournal of Midwifery &Women's Health, EarlyView.
Introduction Although providers may view the use of the noninvasive prenatal testing (NIPT) screen as an opportunity for patients to learn more about potential chromosomal variants of a fetus, research suggests that patients may view the genetic screening test primarily as an opportunity to learn about their fetus's sex chromosomes and may not ...
Erin P. Johnson   +6 more
wiley   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

open access: yesJournal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley   +3 more
wiley   +1 more source

Second Trimester Genetic Amniocentesis: Five- Year Experience of a Maternal- Fetal Medicine Unit

open access: yesGynecology Obstetrics & Reproductive Medicine, 2013
OBJECTİVE: The objective of this study is to identify the annual variations amniocentesis indications such as change in maternal age, cytogenetic results, and other indications.
Orkun Çetin   +6 more
doaj  

Abortion Rate Following Chorionic Villous Sampling and Amniocentesis in Twin Pregnancies

open access: yesJournal of Family and Reproductive Health
Objective: Amniocentesis and chorionic villus sampling (CVS) are the most widely used prenatal diagnostic methods. Despite their benefits, they can be associated with adverse pregnancy effects, but the exact prevalence of these complications especially ...
Fatemeh Golshahi   +10 more
doaj   +1 more source

Free Fetal DNA Testing to Guide Early Intervention in the Management of the Kell Alloimmunized Pregnancy

open access: yes
Prenatal Diagnosis, EarlyView.
Kenneth J. Moise Jr   +3 more
wiley   +1 more source

Periodontitis and Adverse Pregnancy Outcomes: Mechanistic Evidence

open access: yesJournal of Periodontal Research, EarlyView.
This narrative review aims to describe mechanisms linking periodontal diseases in pregnancy with adverse pregnancy outcomes. ABSTRACT Periodontal diseases, including both gingivitis and periodontitis, occur commonly among pregnant individuals. Both gingivitis and periodontitis are associated with adverse pregnancy outcomes (APOs) such as early ...
Gregory C. Valentine   +4 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

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