ObXW M, deOiN gY, KahYeci B, Ka\a M, KeOeú A aQd eW aO. / Aegean J Obstet Gynecol 3/2 (2021) page 10-14 Aegean Journal of Obstetrics and Gynecology 3/2 Aegean Journal of Obstetrics and Gynecology Original Article Evaluations of Pregnancies Diagnosed with Fetal Neural Tube Defects in our Center Mehmet Obut a, †, , Özge Yücel Çelik a, , Bekir Kahveci b, , Mehmet Kaya a, , Ayúe Keleú a, Neval Çayönü Kahraman a, , Özgür Arat a, ,Ali Turhan Ça÷lar a, a Department of Obstetrics and Gynecology, Health Sciences University Etlik Zubeyde Hanim Training and Research Hospital, Ankara, Turkey b Department of Obstetrics and Gynecology, Cukurova University, Adana, Turkey A B S T R A C T Objective: To evaluate the risk factors, chromosomal abnormalities and additional anomalies of cases diagnosed with fetal neural tube defects (NTDs). Material and methods: The data of cases diagnosed with fetal NTDs between January 2016 and August 2020 with fetal NTD were retrieved from the hospital database. Only patients whose diagnosis confirmed after pregnancy termination and have a genetic test were included in the study. The family and antenatal history of patients included maternal age, maternal education level, diabetes mellitus, exposed to teratogenic drugs, smoking, and folic acid intake before or during the first trimester, siblings with a congenital abnormality, consanguinity, and AFP MOMs (alpha-fetoprotein, multiple of median) was obtained. Also, the type and level of NTDs and additional anomalies were noted. The data were evaluated using version 23.0 (SPSS Inc., Chicago, IL, USA). Results: During the study period, a total of 68 patients who met the study criteria were included in the study. A total of 27 patients diagnosed with spina bifida, 24 patients with anencephaly and 17 patients with encephalocele. The most anomalies resulted from NTDs was hydrocephaly and pes equinovarus. The most detected chromosomal abnormality was trisomy 13 (3 out of 7), and the most additional anomaly was the cleft lip and palate and detected in 4 (5.88%) patients. Pregestational DM was seen in 12/68 of pregnancies with fetal NTD. Conclusion: The rate of additional anomalies and chromosomal abnormalities in cases diagnosed with fetal NTDs is high. Thus, a detailed ultrasonographic examination and genetic tests of fetuses with NTD is essential. The pregnancies complicated with pregestational DM have an increased risk for fetal NTD. Keywords: anencephaly; congenital anomalies; inencephaly; nervous system malformations; neural tube defect A R T I C L E I N F O Doi: 10.46328/aejog.v3i2.85 Article history: Received: 25 February 2021 Revision received 10 May 2021 Accepted 03 June 2021 © 2021 AEJOG. Introduction Neural tube defects (NTDs) result from incomplete or aberrant neural tube closure during embryogenesis. The neural tube closure process starts from the cervical area and continues toward cranial and caudal directions [1]. If this process interrupted in any way could result in NTDs. The NTDs types vary according to the affected region. The affected area is in the skull results in anencephaly, and the vertebra results in spina bifida [2, 3]. The most associated anomalies with NTDs are facial cleft, cardiac defects, limb reduction defects, abdominal wall defects and renal abnormalities. Less common anomalies include polydactyly and holoprosencephaly [3]. A series of anomalies contain clubfoot, Chiari 2 and hydrocephaly generally accepted as secondary structural anomalies resulted from NTDs. The rate of underlying chromosomal abnormalities with NTDs is high and varied according to its types. Among NTDs types, the cephalocele has the highest chromosomal abnormality rate (14%), and lethal group such as anencephaly or iniencephaly have the lowest chromosomal abnormality rate (2%). Besides underlying genetic abnormalities, environmental and nutritional factors have an essential role in developing the NTDs. The well-known ones are low folic acid intake, using several drugs such as valproic acid, diabetes mellitus and exposure to high temperature [4- 8]. Because the NTDs have increased mortality and severe morbidity rates and, high prevalence, screening the fetus for these abnormalities is fundamental to routine ultrasound examinations [9]. Detecting a pregnancy with foetal NTD has a crucial role for counselling parents to assist for further management. The prognosis of foetuses with NTD mostly depends on the type of NTD and co- existing malformations [2, 10]. Screening a fetus concerning NTD via alpha-fetoprotein (AFP) and prenatal ultrasound are both accepted methods. However, due to AFP's low sensitivity and specificity, the ultrasound is the more advisable one [1]. In this study, we aimed to demonstrate the risk factors, chromosomal abnormalities, associated abnormalities in pregnancies diagnosed with fetal NTD. Material and methods For this study, after the local institutional ethics committee approved, the data of patients diagnosed with fetal NTD at our hospital from January 2016 to August 2020 were retrieved from the hospital database. The family and antenatal history of patients included maternal age, maternal education level, diabetes mellitus, exposure to teratogenic drugs, smoking, and folic acid intake before or during the first trimester, siblings with a congenital abnormality, consanguinity was obtained. † Corresponding author. E-mail: drmehmetobut@hotmail.com