专题:Prenatal Screening and Diagnostics

This cluster of papers focuses on the various techniques and methods for diagnosing and screening prenatal aneuploidy, including the use of maternal plasma DNA sequencing, noninvasive prenatal testing, preimplantation genetic diagnosis, and fetal DNA analysis. It also covers topics such as chromosomal abnormalities, trisomy detection, and genomic sequencing in the context of prenatal diagnosis.
最新文献
Factors influencing inconclusive sex chromosomal aneuploidies results on non-invasive prenatal testing

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Caregiver perspectives and evolving trends in the diagnosis and management of Down syndrome

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Abstract 9: Diagnostic and Prognostic Use of sFlt-1/PlGF Ratio in Preeclampsia: Enhancing Fetomaternal Outcomes in Cases with Diagnostic Dilemma

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Preferences regarding preconceptional and genetic counselling and pregnancy check-ups among women with the PLN p. (Arg14del) variant

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Fertility Rates Among Women With Intellectual and Developmental Disability Enrolled in Medicaid and/or Medicare, 2011–2022

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Parental morbidity and mortality following the birth of a child with major congenital anomalies: A population-based cohort study

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“You think everything’s fine and then it starts not being fine”: a qualitative descriptive study exploring the prenatal testing experiences of Black women living in England

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Time trends in the male to female ratio for autism incidence: population based, prospectively collected, birth cohort study

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Advantages, limitations, and innovative considerations for established and emerging models of human placental syncytiotrophoblast

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Prediction of Optimal NIPT Timing and Analysis of Influencing Factors of Fetal Y Chromosome Concentration Based on Robust Bayesian Ridge Regression

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近5年高被引文献
ISUOG Practice Guidelines (updated): performance of the routine mid‐trimester fetal ultrasound scan

article Full Text OpenAlex 354 FWCI124.7155

Exagamglogene Autotemcel for Severe Sickle Cell Disease

article Full Text OpenAlex 312 FWCI141.4857

Assisted Reproductive Technology Surveillance — United States, 2018

article Full Text OpenAlex 230 FWCI62.7432

Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis

review Full Text OpenAlex 216 FWCI80.2286

ISUOG Practice Guidelines (updated): performance of 11–14‐week ultrasound scan

article Full Text OpenAlex 214 FWCI125.0391

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

article Full Text OpenAlex 185 FWCI66.9205

The diagnosis and management of suspected fetal growth restriction: an evidence-based approach

review Full Text OpenAlex 185 FWCI31.7311

Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders

article Full Text OpenAlex 180 FWCI31.6037

Assisted reproductive technology: Short‐ and long‐term outcomes

review Full Text OpenAlex 166 FWCI57.795

CRISPR–Cas9-mediated gene editing of the BCL11A enhancer for pediatric β0/β0 transfusion-dependent β-thalassemia

article Full Text OpenAlex 165 FWCI24.0127