Results 131 to 140 of about 10,637 (245)
Fetal ear length (FEL) correlates with gestational age and may help detect chromosomal anomalies. This study developed a nomogram for a Southern European population, showing high measurement reliability. While FEL ≤ 5th percentile increased anomaly risk, its moderate sensitivity and specificity limit clinical utility.
Elisabet Baldrich +6 more
wiley +1 more source
Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver Disease
ABSTRACT Holocarboxylase synthetase deficiency is an autosomal recessive inborn error of metabolism characterised by life‐threatening metabolic acidosis, ketoacidosis and hyperammonaemia through reduced biotin‐dependent carboxylase activity. We report the presentation of a Polynesian neonate with severe metabolic acidosis secondary to holocarboxylase ...
Sophie Manoy +9 more
wiley +1 more source
State-wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non-invasive prenatal testing for sex chromosome conditions. [PDF]
Loughry L +4 more
europepmc +1 more source
Dental caries is a major cause of affliction in people living in the developing world. Oral hygiene is often maintained by the use of tree-based toothbrush sticks called Meswak. The aim of this study was to investigate the effect of Meswak along with probiotic bacteria on the growth of Streptococcus mutans, the organism most often associated with ...
Mehanna, Nayra, Reid, Gregor
openaire +2 more sources
Masayuki Endo +13 more
openalex +1 more source
Objectives First‐trimester ultrasound has evolved to incorporate a detailed fetal anatomy scan (FAS) with nuchal translucency (NT) screening. Many institutions use a 2‐visit protocol: NT followed by detailed FAS at 14–16 weeks. We aimed to evaluate whether integrating detailed FAS into the NT window (12 + 5 to 13 + 6 weeks) is non‐inferior in ...
Tomer Shwartz +6 more
wiley +1 more source
The main ethical principle in prenatal testing is the autonomous decision of the pregnant woman concerned. However, recent developments in prenatal testing undermine this model.
Wieser, Bernhard
core
Prenatal Diagnostic Procedures.
Prenatal invasive procedures serve two purposes-diagnostic and therapeutic. In diagnostic tests, the aim is to identify structural or functional abnormalities of the embryo or fetus in utero.
Tharangrat Hanprasertpong
doaj
Tremendous advances in ultrasound equipment and knowledge have expanded possibilities for the first trimester detailed ultrasound examination. Recommendations from national organizations to offer this service to patients with indications, coupled with recent modifications for dual use of the current procedural terminology code 76811 during pregnancy ...
Reem S Abu‐Rustum +3 more
wiley +1 more source
Uniparental Disomy and Genome Imprinting: an Overview [PDF]
The following paper is concerned with potential changes in the normal epigenetic process in a diploid individual, when a chromosome pair or segment is inherited from one parent only, instead of the expected biparental contribution.
Engel, E.
core

