Contents lists available at ScienceDirect Early Human Development journal homepage: www.elsevier.com/locate/earlhumdev Are routine genetic and urine cytomegalovirus testing useful investigations in symmetrically growth restricted infants? Predheeba Muthusamy a , Samantha Davies a , Eleftheria Ainley a , Prakash Loganathan a,b,c, ⁎ a Neonatal Intensive Care Unit, University Hospital of North Tees, Stockton on Tees, UK b Neonatal Intensive Care Unit, James Cook University Hospital, Middlesbrough, UK c Clinical Academic Office, Faculty of Medical Sciences, Newcastle University, UK ARTICLE INFO Keywords: Chromosome testing Cytomegalo virus Intra-uterine growth restriction ABSTRACT In this six-year study, there were 1118 newborn genetic testing; there were 162 genetic testing for symmetrically growth retarded infants. Out of this, only six infants had positive results yielding a low odds ratio of 0.21 for having any significant chromosome results. Urine CMV testing was positive only in one infant out of 118 tested. 1. Introduction Intra-uterine growth restriction (IUGR) is defined as fetal growth that is failing to reach its full growth potential. Small for gestational age (SGA) is defined as birth weight less than the 10th centile [1]. Though IUGR and SGA were used interchangeably, difference exists between these two terms [2]. IUGR is pathological; an IUGR infant may have normal birth weight but may have suffered in utero growth restriction. In asymmetrical IUGR (head sparing) birth weight is less than 10th centile with normal head circumference. It accounts for 70–80% of all IUGR cases and the most common cause is utero-placental insufficiency [2]. In symmetrical IUGR both birth weight and head circumference are below the 10th percentile. Historically, 5–20% of IUGR cases have been described to have an underlying genetic condition and 10% of cases have intra-uterine fetal infection [3]. However, many recent papers expressed concern of low yield associated with high cost [1,4] for these investigations. Objective of this review is to evaluate the usefulness of chromosomal and urine CMV (cytomegalo virus) testing in symme- trically growth restricted infants. 2. Methodology We conducted a six-year (2011–2017) retrospective review of all genetic testing performed in the neonatal population in the northeast region of United Kingdom. This was a part of an audit, and approval was obtained from relevant hospital authorities. Details regarding ge- netic results were obtained from the regional genetic database. Non- IUGR infants would be referred for genetic testing if they had dysmorphic features or clinical conditions or relevant family history. Selection of infants for urine CMV testing was under discretion of medical team. All neonatal referrals initially had QFPCR (Quantitative Fluorescent polymerase chain reaction) testing performed (20 GBP/ test). This was then followed by either G-banded chromosome analysis (120 GBP/test) in the event that QFPCR showed an abnormal result, or array analysis (180GBP/test) in the event that the QFPCR was normal. Genetic results were provided in three categories as i. “Result likely to be unrelated to referral or of unclear significance” (based on genetic content, size and penetrance). ii. “Result possibly related to referral or other definitely significant syndrome” (known significant syndrome or gene with high pene- trance); and iii. “Result explains Referral”. We reported descriptive statistics, performed chi-square test to find out the difference between the groups and calculated the odds ratio. We used IBM SPSS Statistics (version 24; IBM Corp) for all statistical ana- lysis. 3. Results A total 162 symmetrically growth restricted infants underwent ge- netic testing. In this cohort, 72 (44%) were male, with mean ( ± stan- dard deviation) gestation of 36.7 ± 3 weeks, with mean ( ± standard deviation) birth weight of 1999 ± 570 g and mean ( ± standard de- viation) head circumference of 30.2 ± 2.1 cm. Fourteen (8.6%) https://doi.org/10.1016/j.earlhumdev.2020.105055 Received 8 April 2020; Received in revised form 23 April 2020; Accepted 28 April 2020 Abbreviations: CMV, cytomegalo virus; IUGR, intra-uterine growth restriction; SGA, small for gestational age ⁎ Corresponding author at: Neonatal Intensive Care Unit, James Cook University Hospital, Marton Road, Middlesbrough TS4 3BW, UK. E-mail address: pkannanloganathan@nhs.net (P. Loganathan). Early Human Development 146 (2020) 105055 0378-3782/ © 2020 Elsevier B.V. All rights reserved. T