Balkan Journal of Medical Genetics

MEANING AND CLINICAL INTEREST OF MINOR MALFORMATIONS AND NORMAL VARIANTS IN NEONATOLOGY
Grubeša Raguž S, Jerković Raguž M, Brzica £, Džida S, Mikulić S, Kolobarić A, Galić T
*Corresponding Author: Svjetlana Grubeša Raguž, med MD, specialist in pediatrics, Clinic for Children’s Diseases, Clinical Department of Neonatology, University Clinical Hospital Mostar; E-mail: gsvjetlana@gmail.com Phone: 0038763952832; Fax: 0038736341970
page: 37

MATERIALS AND METHODS

A one-year retrospective study was conducted. The research was carried out at the Clinic for Gynecology and Obstetrics of UCH Mostar’s “Department for Newborns”. Data was collected from children’s records and the mother’s medical history, and at the Clinic for Pediatrics, Department for Neonatology and Intensive Care from discharge letters and transfer lists of newborns. All newborns were involved in the study, including term newborn who were born at a gestational age from 37 +0/7 to 41 +6/7 weeks and newborns born with lower birth weight and chromosomal abnormali- ties. The study included all newborns who met the above criteria as of January 1, 2023 until January 1, 2024. The parameters considered the newborn child’s gender, gesta- tional age, Apgar score, birth weight, birth length, and minor anomalies - malformations such as: preauricular append- ages, low-laid ears, high-arched palate, small chin, simian line, antimongoloid shaped eye slits, partial syndactyly of 2 and 3 fingers, accessory wart, umbilical hernia, moderate rectus diastasis and other minor malformations. Also, the parameters considered the mother’s age, number of pregnan- cies, births, abortions, method of conception, course of preg- nancy, pathological conditions during pregnancy (hyperten- sion, diabetes, infections prior to delivery, hypothyroidism), method of delivery, medications during pregnancy, and other available data from medical records. For the neonatological examination, the most practical was that of Mehes’ scheme, with 38 mM items (Table 1). We adhered to this scheme (10). All term newborns were examined during the first 24 hours of life, and if minor malformations were noticed, they were recorded in the clinical status of the newborn’s temperature chart. Major malformations were registered according to EUROCAT recommendations (11). The newborn’s birth weight is determined with a digital scale manufactured by Momert, model MM6475, immediately after birth, and the progress of the neonate was monitored by daily weighing with the aforementioned scale. The gestational age of the newborn is calculated based on the date of birth and the date of birth of the pregnant woman. Statistical analysis R Studio (RStudio Team 2021) was used for statistical analysis and graphical display of data: Integrated Devel- opment Environment for R. (RStudio, PBC, Boston, MA URL http://www.rstudio.com/) and Microsoft Excel for Microsoft 365 MSO (Version 2111. Microsoft Corpora- tion, Redmond, WA, USA). For the nominal variables in the research, the frequencies of occurrence were stated, and the differences between the frequencies were tested with the Chi-squared test.

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