Results 31 to 40 of about 34,383 (273)

Amniocentesis

Journal of Fetal Medicine, 2016
AbstractAmniocentesis is the most common invasive prenatal diagnostic procedure worldwide. It is a technique of withdrawing amniotic fluid from the uterine cavity using a needle, via a transabdominal approach, under continuous ultrasound guidance, in order to obtain a sample of fetal exfoliated cells, transudates, urine, or secretions.
Nandita Dimri, Ashok Baijal
openaire   +2 more sources

Elevated fetal steroidogenic activity in autism [PDF]

, 2014
Autism affects males more than females, giving rise to the idea that the influence of steroid hormones on early fetal brain development may be one important early biological risk factor.
Abdallah, M W, Auyeung, B, Baron-Cohen, S, Chakrabarti, B, Cohen, A S, Hougaard, D M, Lombardo, M V, Melgaard, L, Nørgaard-Pedersen, B, Ruta, L   +9 more
core   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Cytomegalovirus-Specific Hyperimmune Immunoglobulin Administration for Secondary Prevention after First-Trimester Maternal Primary Infection: A 13-Year Single-Center Cohort Study

Viruses
Primary cytomegalovirus infection during pregnancy has a high risk of vertical transmission, with severe fetal sequelae mainly associated with first-trimester infections.
Emmanouil Karofylakis, Konstantinos Thomas, Dimitra Kavatha, Lamprini Galani, Sotirios Tsiodras, Helen Giamarellou, Vassiliki Papaevangelou, Anastasia Antoniadou   +7 more
doaj   +1 more source

Abortion for Fetal Genetic Abnormalities: Type of Abnormality and Gestational Age at Diagnosis

American Journal of Perinatology Reports, 2020
Background Advances in genetic screening can identify patients at high risk for common genetic conditions early in pregnancy and can facilitate early diagnosis and early abortion. Less common abnormalities might only be diagnosed with invasive testing is
Tracy B. Grossman, Stephen T. Chasen
doaj   +1 more source

Abstracts of Current Literature [PDF]

, 1976
Material appearing in this column is thought to be of particular interest to the Catholic physician because of its moral, religious, or philosophic content. The medical literature constitutes the primary but not the sole source of such material.
Catholic Physicians\u27 Guild
core   +2 more sources

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Patient Perception of Negative Non-Invasive Prenatal Testing Results [PDF]

, 2016
Non-invasive prenatal testing (NIPT) uses cell-free fetal DNA to assess for fetal aneuploidy during pregnancy. NIPT has higher detection rates and positive predictive values than previous methods; however, NIPT is not diagnostic. Studies suggest patients
Wittman, Ann Theresa
core   +2 more sources

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source