Balkan Journal of Medical Genetics

CHROMOSOMAL MICROARRAY IN CHILDREN BORN SMALL FOR GESTATIONAL AGE – SINGLE CENTER EXPERIENCE
Perović D1, Barzegar P2, Damnjanović T1, Jekić B1, Grk M1, Dušanović Pjević M1, Cvetković D3, Đuranović Uklein A1, Stojanovski N1, Rašić M1, Novaković I1, Elhayani B2, Maksimović N1
*Corresponding Author: Corresponding Author: Nela Maksimovic, PhD, University of Belgrade Faculty of Medicine, Insti- tute of Human Genetics, Visegradska 26a, 11000 Belgrade, Serbia, Tel: +381113607052; Email: nela.maksimovic@med.bg.ac.rs
page: 13

INTRODUCTION

Fetal growth restriction (FGR), or intrauterine growth restriction, refers to a condition where a fetus fails to reach its full growth potential [1]. Small for gestational age (SGA) is a term usually used to describe newborns (or fetuses) who weigh less than the 10th percentile of their population or customized growth charts based on gestational age [2, 3]. It is estimated that FGR impacts up to 10% of pregnancies while SGA is seen in at least 11% of newborns. It is important to note that around 40% of fetuses diagnosed as SGA do not have any underlying pathology and are simply constitutionally small in contrast to FGR where pathological mechanisms are frequently described. Therefore, SGA fetuses are not always growth- restricted and some fetuses with FGR could be appropri- ate for their gestational age but have not reached their maximum growth potential [2]. While there is considerable overlap between the two terms and despite existing incon- sistencies in definition, most specialists use the term SGA to describe newborn size, which may or may not be linked to an underlying pathological cause. In contrast, FGR is generally caused by an antenatal pathologic disease [4]. FGR/SGA may have significant prenatal and postna- tal consequences, such as increased risk of perinatal death, neurodevelopmental abnormalities, metabolic syndrome, and cardiovascular disease [5, 6]. Although the etiology and pathophysiological mechanisms can overlap, utero-placental dysfunction is the cause in the vast majority of cases of FGR [2]. However, multiple gestation, maternal disease, and struc- tural and genetic fetal abnormalities are all possible causes [7]. Among these factors, fetal genetic defects, particularly chro- mosomal abnormalities, emerge as significant contributors. The association between fetal growth impairment and chromosomal abnormalities identified through karyo- typing is well-established. However, the strength of this association is significantly influenced by the gestational age at which growth impairment is identified [8], and the presence of structural fetal anomalies [9]. Over the past decades, the landscape of prenatal and postnatal screening has undergone a transformative shift, marked by advancements in technology and methodology. The introduction of the first-trimester combined test, along with other ultrasound exams during early pregnancy, has revolutionized the ability to screen for both structural and genetic abnormalities in fetuses [10]. The enhanced quality of imaging and expertise in ultrasound further contribute to the precision of assessing fetal phenotypes. Additionally, genetic testing has evolved from routine karyotyping to the recommended use of chromosomal microarray technol- ogy, enabling higher resolution and the detection of sub- microscopic copy number variants (CNVs) [11]. CNVs are usually 1 kb to several Mb in length, include both duplications and deletions, and can affect single exons, one or several genes as well as regulatory sequences [12]. Through the postnatal application of CNV microarray technology, this research aims to clarify the complexities associated with small-for-gestational-age infants. It explores their phenotypic and genotypic spectrum, enhancing our knowledge of prenatal growth failure and paving the way for informed clinical decision-making and parental counseling.

Number 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	Number 19 VOL. 19 (2), 2016
Number 19 VOL. 19 (1), 2016	Number 18 VOL. 18 (2), 2015
Number 18 VOL. 18 (1), 2015	Number 17 VOL. 17 (2), 2014
Number 17 VOL. 17 (1), 2014	Number 16 VOL. 16 (2), 2013
Number 16 VOL. 16 (1), 2013	Number 15 VOL. 15 (2), 2012
Number 15 VOL. 15, 2012 Supplement	Number 15 Vol. 15 (1), 2012
Number 14 14 - Vol. 14 (2), 2011	Number 14 The 9th Balkan Congress of Medical Genetics
Number 14 14 - Vol. 14 (1), 2011	Number 13 Vol. 13 (2), 2010
Number 13 Vol.13 (1), 2010	Number 12 Vol.12 (2), 2009
Number 12 Vol.12 (1), 2009	Number 11 Vol.11 (2),2008
Number 11 Vol.11 (1),2008	Number 10 Vol.10 (2), 2007
Number 10 10 (1),2007	Number 9 1&2, 2006
Number 9 3&4, 2006	Number 8 1&2, 2005
Number 8 3&4, 2004	Number 7 1&2, 2004
Number 6 3&4, 2003	Number 6 1&2, 2003
Number 5 3&4, 2002	Number 5 1&2, 2002
Number 4 Vol.3 (4), 2000	Number 4 Vol.2 (4), 1999
Number 4 Vol.1 (4), 1998	Number 4 3&4, 2001
Number 4 1&2, 2001	Number 3 Vol.3 (3), 2000
Number 3 Vol.2 (3), 1999	Number 3 Vol.1 (3), 1998
Number 2 Vol.3(2), 2000	Number 2 Vol.1 (2), 1998
Number 2 Vol.2 (2), 1999	Number 1 Vol.3 (1), 2000
Number 1 Vol.2 (1), 1999	Number 1 Vol.1 (1), 1998

About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact