Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology

CL van Eyk, MC Fahey, J Gecz - Nature Reviews Neurology, 2023 - nature.com
Cerebral palsy is a clinical descriptor covering a diverse group of permanent, non-
degenerative disorders of motor function. Around one-third of cases have now been shown …

Chances and challenges of new genetic screening technologies (NIPT) in prenatal medicine from a clinical perspective: a narrative review

I Bedei, A Wolter, A Weber, F Signore, R Axt-Fliedner - Genes, 2021 - mdpi.com
In 1959, 63 years after the death of John Langdon Down, Jérôme Lejeune discovered
trisomy 21 as the genetic reason for Down syndrome. Screening for Down syndrome has …

Highlighting the trajectory from intrauterine growth restriction to future obesity

KV Gantenbein, C Kanaka-Gantenbein - Frontiers in endocrinology, 2022 - frontiersin.org
During the last decades several lines of evidence reported the association of an adverse
intrauterine environment, leading to intrauterine restriction, with future disease, such as …

[HTML][HTML] Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis

F Mone, R Mellis, H Gabriel, C Baptiste… - American journal of …, 2023 - Elsevier
Objective This study aimed to determine the incremental yield of prenatal exome
sequencing over chromosomal microarray or G-banding karyotype in fetuses with:(1) …

Placental programming, perinatal inflammation, and neurodevelopment impairment among those born extremely preterm

JT Bangma, H Hartwell, HP Santos Jr, TM O'Shea… - Pediatric …, 2021 - nature.com
Individuals born extremely preterm are at significant risk for impaired neurodevelopment.
After discharge from the neonatal intensive care, associations between the child's well-being …

Genetic background of fetal growth restriction

BA Nowakowska, K Pankiewicz, U Nowacka… - International Journal of …, 2021 - mdpi.com
Fetal growth restriction (FGR) is one of the most formidable challenges in present-day
antenatal care. Pathological fetal growth is a well-known factor of not only in utero demise in …

Which chart and which cut-point: deciding on the INTERGROWTH, World Health Organization, or Hadlock fetal growth chart

J Liauw, C Mayer, A Albert, A Fernandez… - BMC Pregnancy and …, 2022 - Springer
Objective To determine how various centile cut points on the INTERGROWTH-21st
(INTERGROWTH), World Health Organization (WHO), and Hadlock fetal growth charts …

Diagnostic yield of exome sequencing in isolated fetal growth restriction: systematic review and meta‐analysis

M Pauta, RJ Martinez‐Portilla, E Meler… - Prenatal …, 2023 - Wiley Online Library
The aim of this study was to determine the diagnostic yield of exome sequencing (ES) above
that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with isolated fetal …

Preconception maternal retinal arteriolar narrowing and fetal growth throughout pregnancy: A prospective cohort study

LJ Li, R Du, JKY Chan, KH Tan… - … Journal of Obstetrics …, 2024 - Wiley Online Library
Objective To investigate the association between preconception maternal retinal arteriolar
calibre and fetal growth. Design, setting and population A hospital‐based, prospective …

First trimester screening for common trisomies and microdeletion 22q11. 2 syndrome using cell-free DNA: a prospective clinical study

KO Kagan, M Hoopmann, T Pfaff, N Prodan… - Fetal Diagnosis and …, 2020 - karger.com
Objectives: The aims of the study were to assess the false-positive and uninformative test
rate with first trimester cell-free DNA (cfDNA) screening for common trisomies and …