Detection of fetal malformations in the first trimester

Fetalne malformacije su urođene strukturne malformacije nastale poremećajem u razvoju embrija ili fetusa. Nastaju pod djelovanjem okolišnih i genskih čimbenika. Dokazani teratogeni su ionizirajuće vrste zračenja, metali, hipertermija, infekcije i određeni lijekovi. Kritično razdoblje za nastanak fetalnih malformacija je razdoblje organogeneze između 4. i 8. tjedna trudnoće. Glavna metoda otkrivanja fetalnih malformacija danas jest ultrazvuk koji je napretkom tehnologije i razvitkom visoko rezolucijskih transvaginalnih sondi omogućio rano otkrivanje fetalnih malformacija, i to već između 11. i 14. tjedna trudnoće. Fetalne malformacije koje će se s velikom sigurnošću otkriti na ranom ultrazvučnom pregledu su malformacije središnjeg živčanog sustava, malformacije probavnog sustava, ektopija srca, megacista i body stalk anomalija. One koje će biti nešto teže uočljive u tom ranom razdoblju trudnoće su malformacije kralježnice poput spine bifide, fetalni hidrops, malformacije udova, a za srčane anomalije će veći značaj imati ultrazvuk u drugom tromjesečju trudnoće. Daljnja obrada otkrivenih fetalnih malformacija zahtijeva kariotipizaciju, a potrebno je i uputiti roditelje na genetsko savjetovanje. U ovom retrospektivnom istraživanju provedenom na Klinici za ginekologiju i porodništvo Kliničke bolnice „Sveti Duh“ prikupljeni su podaci o trudnicama s otkrivenim fetalnim malformacijama u prvom tromjesečju trudnoće u razdoblju od 1. siječnja 2016. do 31. prosinca 2020. Cilj je bio prikazati broj otkrivenih malformacija u prvom tromjesečju te njihovu raspodjelu po organskim sustavima, starosnu dob trudnica i točnu gestacijsku dob. Zabilježeno je 147 trudnoća s fetalnim malformacijama. Srednja dob trudnica iznosila je 31,75 godina, a srednja gestacijska dob 12 + 3,65. Od 147 slučajeva, malformacije vrata i lica činile su 54% (n=110), a među njima je bilo 109 cističnih higroma. Najmanje je bilo krvožilnih malformacija koje su činile samo 1% (n=2). Od ukupnog broja malformacija, njih 74% (n=104) upućeno je na daljnju kariotipizaciju.Fetal malformations are congenital structural malformations caused by a disorder in the development of the embryo or fetus. Their genesis is considered to be multifactorial, consisting of both environmental and genetic factors. Some of the often-outlined teratogens are ionizing radiation, metals, hyperthermia, infections, and certain medications. The critical period for the development of fetal malformations is between the 4th and 8th week of pregnancy, during the period of organogenesis. The main method of detecting fetal malformations today is ultrasound. Advancement of technology and the development of high-resolution transvaginal probes has enabled early detection of fetal malformations via routine examination between the 11th and 14th week of pregnancy. Fetal malformations that could be detected with great certainty on early ultrasound examination are malformations of the central nervous system, digestive system, ectopic heart, megacystis, and body stalk anomaly. Those that are somewhat more difficult to notice in this early period of pregnancy are spinal malformations such as spina bifida, fetal hydrops and limb malformations. For cardiac malformations, ultrasound in the second trimester of pregnancy is of considerably higher importance. Follow-up of detected fetal malformations consists of karyotyping and referral of parents to genetic counseling. This retrospective study conducted at the Clinic for Gynecology and Obstetrics of the Clinical Hospital "Sveti Duh" collected data on pregnant women with detected fetal malformations in the first trimester of pregnancy in the period from January 1, 2016 to December 31, 2020. The aim of the study was to show the number of detected malformations in the first trimester and their distribution by organ systems, mean age of pregnant women and gestational age. 147 pregnancies with fetal malformations were reported. The mean age of pregnant women was 31,75 years, and the mean gestational age was 12 + 3,65. Out of 147 cases, neck and face malformations accounted for 54% (n = 110), with cystic hygromas making for 109 of those malformations. Vascular malformations accounted for only 1% (n = 2) making them the least frequent type of malformations observed. Of the total number of malformations, 74% (n = 104) were referred for further karyotyping