HELLP syndrome, also known as the syndrome of hemolysis, elevated liver enzymes, and low platelets, represents a severe pregnancy complication typically associated with hypertension. It is associated with increased risks of adverse complications for both mother and fetus. HELLP occurs in 0.2–0.8% of pregnancies, and, in 70–80% of cases, it coexists with preeclampsia (PE). Both of these conditions show a familial tendency. A woman with a history of HELLP pregnancy is at high risk for developing this entity in subsequent pregnancies. We cannot nominate a single worldwide genetic cause for the increased risk of HELLP. Combinations of multiple gene variants, each with a moderate risk, with concurrent maternal and environmental factors are thought to be the etiological mechanisms. This review highlights the significant role of understanding the underlying pathophysiological mechanism of HELLP syndrome. A better knowledge of the disease’s course supports early detection, an accurate diagnosis, and proper management of this life-threatening condition.

Intrauterine growth restriction (IUGR) represents a serious condition that can lead to increased perinatal morbidity, mortality and postnatal impaired neurodevelopment. There are two distinct phenotypes of IUGR: early onset and late onset IUGR with different onset, patterns of evolution and fetal Doppler profile. In early onset preeclampsia the main Doppler modifications are at the level of umbilical artery, with progressive augmentation of the pulsatility index to absent or reverse end diastolic flow. The modifications of the cerebral, cardiac and ductus venosus circulation are generally present, but with different sequences. The late onset IUGR is determined by third trimester placental insufficiency that entails fetal hypoxia. The cerebro-placental ratio (CPR) and the pulsatility index of the middle cerebral artery (PI MCA) seems to be the main markers for both diagnosis and obstetrical management while umbilical Doppler PI is frequently normal. Also the sequence of Doppler alterations is neither specific nor complete. New protocols for the diagnosis and management of late onset IUGR need to be implemented.

Over half of human genome contains retroelements, including retrotransposons, retroviruses, and other elements. Human endogenous retroviruses (HERVs) comprise about 8% of human genome. The products of 2 of 16 identified genes of HERV-W seem to play a pivotal role in the placentation. These 2 genes are HERV-W env glycoprotein (syncytin-1) and HERV-FRD env glycoprotein (syncytin-2). It has been shown previously that syncytin-1 mediates cell-cell fusions of cytotrophoblasts into syncytiotrophoblasts. In addition, HERV-W env contains an immunosuppressive region that may prevent rejection of a semiallogenic fetus from the mother's immune system. We analyzed 40 full-term placental tissues to localize the expression of syncytin-1-ISR by immunohistochemical staining and by reverse trancscriptase (RT) in situ polymerase chain reaction (PCR). Both the immunostaining and in situ RT-PCR showed strong expression of syncytin-1 in the syncytiotrophoblast layer from the full-term placental tissues. To further analyze the mechanism of early embryo HERV-W env activation, we utilized a HTR-8/SVneo cell line developed from first trimester human trophoblasts and subjected them to various physiologic concentrations of maternal hormones. Quantitative RT-PCR analyses demonstrated that exposure to progesterone significantly upregulated the HERV-W env expression, whereas several other hormones apparently played lesser roles. In conclusion, our findings suggest that expression of syncytin-1 (HERV-W env) in utero is expressed exclusively in the syncytiotrophoblast layer and is upregulated by progesterone.

HOX genes, a family of conserved transcription factors, are critical for reproductive tract development and endometrial functionality. This review highlights the molecular underpinnings of HOXA10/HOXA11 in reproductive health and their dysregulation in benign pathologies associated with infertility, such as endometriosis, adenomyosis, and endometrial polyps. These genes are dynamically regulated by estrogen and progesterone, with peak expression during the secretory phase of the menstrual cycle when implantation takes place. The molecular mechanisms underlying their action include the modulation of extracellular matrix (ECM) remodeling via metalloproteinases, cytokines like leukemia inhibitory factor, and cell adhesion molecules such as β3-integrin, all of which are essential for the differentiation of epithelial and stromal cells, as well as for trophoblast invasion. Aberrant HOX gene expression, driven by DNA hypermethylation or altered histone acetylation, compromises endometrial receptivity and implantation. For instance, reduced HOXA10 expression in endometriosis stems from hypermethylation and chronic inflammation, disrupting immune modulation and cytokine signaling. Similarly, adenomyosis alters HOXA11-regulated ECM remodeling and β3-integrin expression, impairing embryo attachment. Furthermore, regulatory pathways involving vitamin D and retinoic acid offer promising therapeutic avenues pathways, as they enhance HOXA10/HOXA11 expression and endometrial receptivity. This review underscores the critical molecular roles of HOXA10/HOXA11 genes as biomarkers and therapeutic targets to optimize fertility outcomes and address reproductive pathologies.

Objective: The aim of this study was to establish the diagnostic accuracy of high‐field magnetic resonance imaging (MRI) at 7 Tesla (T) compared with that of stereomicroscopic autopsy for assessing first trimester fetuses.Methods: Nine consecutive cases of first trimester fetuses resulting from spontaneous and therapeutic pregnancy termination were considered. The cases were divided into two groups according to gestational age: the Embryo Group with cases of nine to 10 gestational weeks (GWs) and the Fetus Group with cases of 13 GWs. The first group was scanned using three‐dimensional fast imaging with steady state precession (3D FISP), and the second group was scanned using a two‐dimensional (2D) turbo spin‐echo high‐resolution T2‐weighted imaging (T2 WI) protocol. A radiologist and two embryologists interpreted the images. All cases were evaluated by invasive autopsy, with pathologist blinded to the imaging results. In total, the database included 270 items for evaluation (9 cases × 30 structures/case).Results: The global agreement between fetal high‐field virtopsy and microscopic or stereomicroscopic autopsy was evaluated using 225 evaluation items visible by both methods. Overall, using microscopic examination and stereomicroscopic autopsy as the gold standard, fetal high‐field virtopsy had a sensitivity of 94.6% [95% CI, 87.2‐98.3] and a specificity of 97.6% [95% CI, 95‐98.8]. The positive predictive value (PPV) was 93% [95% CI, 85.7‐96.6], and the negative predictive value (NPV) was 98.2% [95% CI, 95.7‐99.4]. Cohen kappa coefficient of agreement was k = 0.92 [95% CI, 0.82‐0.97], and the McNemar test showed p = 1.00.Conclusions: Virtual autopsy using high‐field MRI at 7 T can be considered a safe alternative approach to stereomicroscopic autopsy for the assessment of fetal structural anomalies at the end of the first trimester of pregnancy.

The present study provides our clinical experience regarding the imaging diagnosis, management and postnatal outcome of neonates prenatally suspected of having developed ovarian cysts. This multicenter observational study included patients diagnosed prenatally with fetal ovarian cysts and follow-up in the postnatal period. Descriptive statistics were used to render the information regarding the prenatal imaging aspect of the fetal pelvic masses using ultrasound and/or MRI, prenatal surveillance and postnatal neonate’s immediate outcome, indications leading to surgery and pathologic aspect. The inclusion criteria were fulfilled by 21 patients. The mean gestational age at the time of initial diagnosis was 31.28 weeks of gestation (WG). Only five out of 21 cysts regressed completely during pregnancy without postnatal complications. In addition, 11 out of 21 infant’s required surgical treatment in the first two weeks after birth, mainly for ovarian torsion. Five out of 21 neonates were referred to postnatal follow-up clinically and by ultrasound, but three out of five cases required emergency surgical treatment for acute complications. Ultrasound plays a major role in the diagnostic of fetal ovarian cyst. From our experience, MRI does not bring supplementary data or change the management. Spontaneous resolution of fetal ovarian cysts is to be expected but the ovarian mass could lead to serious complications, if resolution does not occur in due time.