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Endometriosis is a common cause of infertility among reproductive-age women. A low ovarian reserve is associated with the presence of endometriotic cysts, and this is accentuated even more after surgery. Patients with a history of endometrioma are a special category of poor ovarian reserve requiring in vitro fertilization (IVF). The aim of this retrospective study was to evaluate the characteristics and outcome of ovarian stimulation and embryo transfer in women with a history of ovarian surgery for endometrioma compared with a control group with tubal factor infertility. A total of 146 patients had previous laparoscopic cystectomy for endometrioma (group A) and their IVF results were compared with 136 patients with documented tubal obstruction (group B). In both groups, the most frequently used ovarian stimulation protocol was the short antagonist in 84.24% versus 80.88%. The number of stimulation days was between 6 and 15 days in the two groups with a mean value of 12.76 days in group A and 9.47 days in group B. The clinical pregnancy rate was 26.77% in the endometrioma group and 39.68% in the tubal obstruction group. Patients with a history of endometrioma are less likely to conceive than those with tubal obstruction despite having similar ovarian reserve and stimulation results.

Background and Objectives: Although considerable research has been devoted to examining the distinctions between fresh and frozen embryo transfer regarding obstetric outcomes and rates of pregnancy success, there is still a scarcity of thorough analyses that specifically examine neonatal outcomes. The objective of our study was to provide an in-depth analysis of neonatal outcomes that occur after the transfer of fresh and frozen embryos (ET vs. FET) in IVF/ICSI cycles. Materials and Methods: Multiple databases (PubMed/MEDLINE, Cochrane Library, Web of Science, Wiley, Scopus, Ovid and Science Direct) were searched from January 1980 to February 2024. Two reviewers conducted the article identification and data extraction, meeting inclusion and exclusion criteria. The methodological quality was evaluated using the Newcastle–Ottawa Scale (NOS) or the revised Cochrane Risk of Bias Tool. The meta-analysis was performed using RevMan 5.4. Results: Twenty studies, including 171,481 participants in total, were subjected to qualitative and quantitative analyses. A significant increase in preterm birth rates was noted with fresh embryo transfer compared to FET in the overall IVF/ICSI population (OR 1.26, 95% CI 1.18–1.35, p < 0.00001), as well as greater odds of a low birth weight (OR 1.37, 95% CI 1.27–1.48, p < 0.00001) and small-for-gestational-age infants in this group (OR 1.81, 95% CI 1.63–2.00, p < 0.00001). In contrast, frozen embryo transfer can result in macrosomic (OR 0.59, 95% CI 0.54–0.65, p < 0.00001) or large-for-gestational-age infants (OR 0.64, 95% CI 0.60–0.69, p < 0.00001). No significant difference was observed regarding congenital malformations or neonatal death rates. Conclusions: This systematic review confirmed that singleton babies conceived by frozen embryo transfer are at lower risk of preterm delivery, low birthweight and being small for gestational age than their counterparts conceived by fresh embryo transfer. The data support embryo cryopreservation but suggest that elective freezing should be limited to cases with a proven indication or within the framework of a clinical study.

The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioral phenotypes and psychiatric illness. The purpose of our paper is to present the case of a fetus diagnosed with a complex association of cardiac anomalies: interrupted aortic arch type B, large malalignment-type ventricular septal defect, pulmonary valve dysplasia, and aberrant right subclavian artery for whom the result of genetic testing revealed 22q11.2 deletion. The pregnancy was regularly followed until delivery which took place in Germany so that neonatal cardiac surgery could be performed in an experienced center for cardiac malformations. The distinctivness of our report resides in the fact that it offers a complete image of a case of 22q11.2 deletion syndrome starting from the prenatal diagnosis (and emphasizing on the most relevant sonographic features) and, with parents not opting for termination of pregnancy, ending with the newborn surviving major cardiac surgery, offering thus the possibility to bring into focus postnatal outcome and future expectations in similar cases.

Endometriosis, an intriguing gynecological illness, poses a substantial health concern for women of reproductive age, despite its widespread occurrence and limited comprehension. The objective of this study is to assess the diagnostic precision of transvaginal sonography (TVS) and pelvic magnetic resonance imaging (MRI) for the identification of deep infiltrated endometriosis (DIE). This study encompassed a cohort of 256 patients exhibiting signs and symptoms of endometriosis, with the aim of assessing the diagnostic accuracy over a span of four years. Both TVS and pelvic MRI were employed in the same centers to analyze each subject. The histopathologic analysis and laparoscopy were the most reliable and widely accepted methods for evaluation. TVS is a reliable diagnostic tool for ovarian endometriomas, obviating the necessity for MRI confirmation. The specificity of TVS in diagnosing ovarian endometriomas is 57.14%, while its sensitivity is 93.78%, resulting in an overall accuracy of 84.47%. In relation to parametrial lesions, the sensitivity, specificity, and accuracy of TVS and MRI were as follows: TVS: 9%, 97%, 32%, MRI: 27.14%, 89.19%, and 40.11%. Concerning the uterosacral lesions, the sensitivity, specificity, and accuracy of TVS and MRI were as follows: TVS:14.63%, 94.74%, and 55%, while MRI: 65.88%, 66.30%, and 66.1%. Regarding rectal endometriosis, the sensitivity, specificity, and accuracy of TVS and MRI were as follows: 69.72%, 76.87%, and 73.82% for TVS, and 66.28%, 94.51%, and 80.79% for MRI. The results of the present study indicate that whereas MRI generally exhibits superior capability in assessing the severity of endometriosis, TVS demonstrates sufficient diagnostic accuracy in DIE comparable to MRI.

(1) Background: Endometriosis is a widespread gynecological condition that causes chronic pelvic discomfort, dysmenorrhea, infertility, and impaired quality of life in women of reproductive age. Clinical examination, transvaginal ultrasonography (TVS), and magnetic resonance imaging (MRI) are significant preoperative non-invasive diagnosis procedures for the accurate assessment of endometriosis. Although TVS is used as the primary line for diagnosis, MRI is commonly utilized to achieve a better anatomical overview of the entire pelvic organs. The aim of this systematic review article is to thoroughly summarize the research on various endometriosis diagnosis methods that are less invasive. (2) Methods: To find relevant studies, we examined electronic databases, such as MEDLINE/PubMed, Cochrane, and Google Scholar, choosing 70 papers as references. (3) Results: The findings indicate that various approaches can contribute to diagnosis in different ways, depending on the type of endometriosis. For patients suspected of having deep pelvic endometriosis, transvaginal sonography should be the first line of diagnosis. Endometriosis cysts are better diagnosed with TVS, whereas torus, uterosacral ligaments, intestine, and bladder endometriosis lesions are best diagnosed using MRI. When it comes to detecting intestine or rectal nodules, as well as rectovaginal septum nodules, MRI should be the imaging tool of choice. (4) Conclusions: When diagnosing DE (deep infiltrative endometriosis), the examiner’s experience is the most important criterion to consider. In the diagnosis of endometriosis, expert-guided TVS is more accurate than routine pelvic ultrasound, especially in the deep infiltrative form. For optimal treatment and surgical planning, accurate preoperative deep infiltrative endometriosis diagnosis is essential, especially because it requires a multidisciplinary approach.

Background: Our study aimed to examine the osteopontin (OPN) serum levels and tissue expression of CD44 and OPN in endometriosis-affected women both undergoing and not undergoing progestin treatment, and also to determine their involvement in the pathogenesis of endometriosis. Methods: Using an ELISA kit, we evaluated the OPN serum levels of healthy and endometriosis-affected women both undergoing and not undergoing progestin treatment. Immunohistochemical (IHC) analyses were used to assess the endometriotic tissue expressions of CD44 and OPN. Results: There were statistically significant higher OPN serum levels in the healthy control group compared to the women with endometriosis. Furthermore, there were higher OPN serum levels in the endometriosis-affected women undergoing the progestin treatment, but the difference did not reach statistical significance. In comparison to OPN, CD44 expression was significantly higher in all the endometriotic tissue glands and stroma, regardless of the patient’s treatment status. Compared to the group receiving therapy, the OPN levels were higher in the endometriosis group not receiving therapy. OPN’s robust cytoplasmic expression seemed to be associated with the non-treatment group. Conclusion: Endometriosis, CD44, and OPN appear to be closely related. This study suggests that endometriosis that has not been treated has an immunological profile distinct to endometriosis that has received treatment.

(1) Background: The effects of serum vitamin D levels, the vitamin D receptor (VDR), and phosphohistone H3 (PHH3) in endometriosis were investigated in two cohorts of women with this pathology: those receiving hormonal treatment and those without treatment. (2) Methods: In 60 cases of women with endometriosis (26 with progestin treatment and 34 without), paraffin-embedded endometriosis tissue samples retrieved after surgery were immunohistochemically (IHC) analyzed to determine the expression statuses of VDR and PHH3. In addition, serum levels of 25(OH) vitamin D were assessed for each patient. (3) Results: The serum 25(OH) vitamin D evaluations revealed higher levels of 25(OH) vitamin D in women with treatment compared with those without. The positive IHC indexes of VDR and PHH3 in these two groups were compared. Vitamin D receptor levels were positively correlated with PHH3 levels, both being increased in patients without treatment. (4) Conclusions: Serum 25(OH) vitamin D levels and IHC analysis of VDR and PHH3 can be used as additional tools for risk stratification and prognostic assessment in patients with endometriosis.

Down syndrome is the most common chromosomal abnormality diagnosed in newborn babies. Infants with Down syndrome have characteristic dysmorphic features and can have neuropsychiatric disorders, cardiovascular diseases, gastrointestinal abnormalities, eye problems, hearing loss, endocrine and hematologic disorders, and many other health issues. We present the case of a newborn with Down syndrome. The infant was a female, born at term through c-section. She was diagnosed before birth with a complex congenital malformation. In the first few days of life, the newborn was stable. In her 10th day of life, she started to show respiratory distress, persistent respiratory acidosis, and persistent severe hyponatremia, and required intubation and mechanical ventilation. Due to her rapid deterioration our team decided to do a screening for metabolic disorders. The screening was positive for heterozygous Duarte variant galactosemia. Further testing on possible metabolic and endocrinologic issues that can be associated with Down syndrome was performed, leading to hypoaldosteronism and hypothyroidism diagnoses. The case was challenging for our team because the infant also had multiple metabolic and hormonal deficiencies. Newborns with Down syndrome often require a multidisciplinary team, as besides congenital cardiac malformations they can have metabolic and hormonal deficiencies that can negatively impact their short- and long-term prognosis.

Pruritic urticarial papules and plaques of pregnancy (PUPPP) usually occurs in the third trimester of pregnancy in primiparous women. It is a self-limiting inflammatory disorder with a still unknown pathogenic mechanism. The abdominal wall overdistension, with a subsequent inflammatory response due to damage to the connective tissue, represents a pathogenesis explanation. Clinical features involve intensely pruritic urticarial rash with edematous, erythematous papules and plaques. The clinical picture and dermal biopsy establish the diagnosis. Topical corticosteroids and oral antihistamines are usually sufficient, but sometimes systemic corticosteroids are necessary. Maternal and fetal prognosis is excellent, and the lesions resolve after birth with no scarring or pigmentary change. We present a case of a 36-year-old patient with a 32-week pregnancy who was admitted with a generalized pruritic rash accompanied by fever. The final diagnosis was decided after multiple pathology exclusions. Treatment consisted of systemic corticoid therapy. The patient gave birth by cesarean section to a healthy newborn without dermatological lesions or other conditions. Adding more PUPPP cases to the literature portfolio will bring more awareness to this under-recognized and under-reported skin disorder. We trust this case will encourage other physicians to publish more cases of pregnancy-specific dermatoses.