Perinatal outcomes of antenatally diagnosed omphalocele and gastroschisis: a survey from a university hospital - Journal of the Turkish-German Gynecological Association

Objective: Our aim was to show that anti-Mullerian hormone (AMH) may be used as a quantitative marker of ovarian reserve in Turkish girls aged 18 years and younger and establish the reference values for AMH in Turkish girls. Material and methods: This retrospective study included girls between 8-18 years old, without premature ovarian failure or without genetic factors resulting in ovarian dysgenesis. Blood specimens were collected after overnight fasting early in the morning during the early follicular phase. Measurement of serum levels of gonadotropins and AMH was done. Mean serum AMH levels of different age groups and best fitting curve representing AMH percentiles (10(th), 25(th), 50(th), 75(th), 90(th)) were calculated. Results: In total 785 girls with a mean age of 16.16 +/- 1.90 years were included, divided into seven age groups. The mean serum AMH level for the total cohort was 5.20 +/- 4.19 ng/mL. There was a significant difference between the mean values of AMH in age groups as follows: <= 12 and 17-<= 18 (p=0.011). The best fitting curves for AMH percentiles were 4(th) order polynomial functions. There was a significant correlation between AMH and age and follicle stimulating hormone levels (r=0.148, p<0.001 and r=-0.092, p=0.010). Conclusion: Our results reflect the real-life data for serum AMH values in Turkish girls. Our nomogram may be useful for counseling adolescents about their ovarian reserve and diagnosing other gynecological diseases. A longitudinal study is necessary for improving the predictive value of AMH values in girls aged 18 and younger.

8p23 deletion syndrome is characterized by congenital heart disease, diaphragmatic hernia, growth restriction, microcephaly, intellectual disability, behavioral problems, and abnormal genitalia. Prenatal findings are generally related to abnormal ultrasound findings and few cases have been reported in the literature. We present the prenatal diagnosis of 8p23 deletion syndrome with sonographic features of fetal growth restriction, short long bones, increased right ventricular wall thickness and small ventricular dimensions without an obvious structural fetal heart anomaly. The deletion size of the present case was one of the largest reported prenatally with a 10.8 MB deletion in the 8p23.3p23.1 region that did not include the critical GATA4 gene. The large deletion in our case included the SOX7, Tankyrase 1 (TNKS) and Microcephalin 1 (MCPH 1) genes. We assume that classical phenotypic features of micrognathia, low-set ears, flat and broad nasal bridge that we observed in our case may be due to these deletions. Microarray analysis of the chromosomes should be performed to diagnose chromosome aberrations such as 8p23 deletion syndrome in obscure ultrasonographic findings prenatally.

Objectives: This study aimed to investigate whether COVID-19 infection or COVID-19 mRNA vaccination affects ovarian reserve and reproductive hormone profiles in reproductive-aged women. Methods: This retrospective longitudinal (before–after observational) single-center study included women aged 16–44 years who presented to a tertiary center between January 2021 and September 2023. Participants either had a confirmed COVID-19 infection by a positive polymerase chain reaction (PCR) test or had received two doses of a COVID-19 mRNA vaccine without prior infection. Women with available ovarian reserve parameters within six months of infection or vaccination were included. Anti-Müllerian hormone (AMH), follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E₂), prolactin (PRL), thyroid-stimulating hormone (TSH), total testosterone, and free testosterone levels were evaluated at baseline and reassessed six months later. Menstrual cycle characteristics were recorded. Parametric and non-parametric statistical tests were applied as appropriate. Results: No statistically significant differences were observed in AMH, FSH, LH, E2, PRL, TSH, total testosterone, or free testosterone levels before and after COVID-19 infection or vaccination (all p > 0.05). Comparisons between infection and vaccination groups across age subgroups (<25, 25–35, ≥35 years) revealed no significant differences in ovarian reserve parameters. Menstrual irregularities were reported in 38.0% of women following infection and 18.6% following vaccination. All reported menstrual changes were transient and resolved within six months. Conclusions: COVID-19 infection and mRNA vaccination were not associated with detrimental effects on ovarian reserve or reproductive hormone profiles. Although transient menstrual irregularities were observed, no long-term adverse reproductive impact was detected. Larger prospective studies are warranted to confirm these findings.