Gynecology Obstetrics & Reproductive Medicine

Case Report of Alagille Syndrome in a Pregnant Patient: A Arrative Review of the Diagnosis and Treatment

2025-08-09T14:38:08+03:00

Alagille syndrome is a genetic disorder with an autosomal dominant hereditary pattern. Clinical manifestations include craniofacial, ocular, cardiac, hepatic, renal, vascular, and skeletal abnormalities with varying phenotypic penetrance; therefore, treatment would be targeted to the affected organs. A successful pregnancy in this pathology is uncommon and depends on the maternal features, particularly those that involve the cardiovascular and hepatobiliary systems. The objective of the manuscript is to present the case of a 24-year-old pregnant woman with a diagnosis of Alagille syndrome, her therapeutic challenge, and associated conditions.

Prediction and Prophylaxis of Preeclampsia: An Expert Review

2025-10-10T12:44:00+03:00

Preeclampsia remains one of the leading causes of global maternal and perinatal morbidity and mortality. This review aims to provide a comprehensive, up-to-date synthesis of the current evidence on prediction and prophylaxis strategies for preeclampsia. It particularly emphasizes the role of mean arterial pressure and combined screening models. A comprehensive literature review was conducted using PubMed and other relevant databases, focusing on studies published over the last two decades. Predictive approaches were evaluated, including maternal risk factors, biochemical markers, uterine artery Doppler scan, and mean arterial pressure. The review also discusses prophylactic interventions such as low-dose aspirin and calcium supplementation. Results from recent multicenter trials highlight the value of integrating maternal history with mean arterial pressure and biochemical markers. This approach improves screening performance in early pregnancy. This review underscores the importance of early risk stratification and timely initiation of preventive strategies to reduce the burden of preeclampsia. Its original value lies in presenting a concise, evidence-based update for clinical practice by integrating current guidelines with recent trial outcomes.

Fetal and Neonatal Outcomes of Antenatally Detected Ductus Arteriosus Aneurysm: A Retrospective Observational Study

2025-08-15T22:59:21+03:00

OBJECTIVE: Ductus arteriosus aneurysm (DAA) is a rare fetal cardiac anomaly characterized by abnormal dilation of the ductus arteriosus. While many cases resolve spontaneously, DAA can be associated with complications such as thromboembolism, rupture, or persistent patent ductus arteriosus (PDA). The increasing use of fetal echocardiography has improved early diagnosis, but the clinical significance and outcomes of antenatally diagnosed DAA remain incompletely understood. This study aims to analyze the prevalence, echocardiographic characteristics, and postnatal outcomes of antenatally diagnosed DAA, as well as evaluate the association between DAA size, maternal and neonatal factors, and postnatal PDA persistence.

STUDY DESIGN: This retrospective observational study was conducted at a tertiary care perinatal center in South India from 2011 to the present. All third-trimester fetuses diagnosed with DAA via ultrasound were included. Data on maternal and neonatal characteristics, postnatal echocardiographic findings, and perinatal outcomes were collected and analyzed. Statistical analysis was performed using SPSS version 26, with significance set at p<0.05.

RESULTS: A total of 35 foetuses were diagnosed with DAA. The mean maternal age was 26.32 ± 9.33 years, and the mean gestational age at delivery was 34.34 ± 3.58 weeks. Spontaneous resolution of DAA occurred in 62.85% of cases, while 17.14% had juxta-ductal coarctation with moderate PDA, 11.42% had DAA with an organized thrombus, and 8.57% had a large ductal aneurysm with a small PDA. Larger DAA size was significantly associated with persistent PDA (p=0.009). Lower gestational age was also a significant predictor of PDA persistence (p=0.03), whereas birth weight and maternal age showed no significant associations.

CONCLUSION: The majority of antenatally diagnosed DAA cases resolve spontaneously, but larger aneurysms and lower gestational age are associated with persistent PDA. These findings highlight the importance of prenatal and postnatal echocardiographic surveillance for risk stratification and management. A conservative yet vigilant approach is recommended to optimize neonatal outcomes.

Reference Ranges for Corpus Callosum and Cerebellar Vermis Measurements in Fetuses Between 18-36 Weeks of Gestation

2025-11-12T19:39:09+03:00

Objective: To establish gestational age-specific nomograms for the corpus callosum (CC) and cerebellar vermis (CV) using two-dimensional (2D) ultrasound in a Turkish population between 18 and 36 weeks of gestation.

Study Design: This cross-sectional study was conducted at the Maternal–Fetal Medicine Unit of a tertiary care centre. A total of 714 low-risk singleton pregnancies between 18+0 and 36+0 weeks of gestation were included. Standardised midsagittal cranial sections were obtained using 2D ultrasound, and measurements were performed by maternal–fetal medicine specialists. Assessed parameters included CC length; thickness of the genu, body, and splenium; and CV anteroposterior (CVAPD) and craniocaudal (CVCCD) diameters. Statistical analysis included descriptive statistics and polynomial regression. Pearson correlation coefficients were calculated to assess the relationship between gestational age and each measurement.

Results: Nomograms with 5th, 50th, and 95th percentiles were created for each parameter. All measurements showed significant positive correlations with gestational age (p<0.001). The CC length increased from a mean of 15.96 mm at 18 weeks to 43.12 mm at 36 weeks. The 50th percentile values for CVAPD and CVCCD were 8.91 mm and 10.17 mm at 18 weeks, rising to 20.13 mm and 22.10 mm, respectively, at 36 weeks. Thicknesses of the genu, body, and splenium also showed consistent growth patterns.

Conclusion: The nomograms developed in this study provide normative data for fetal midline brain structures and may aid in the prenatal detection of neurodevelopmental abnormalities.

Cerclage Area: A Postoperative Ultrasonographic Parameter for Predicting Preterm Birth

2025-09-19T23:47:44+03:00

OBJECTIVE: This study evaluated the link between postoperative cervical ultrasonographic measurements in women who underwent transvaginal cerclage for cervical insufficiency and preterm birth, focusing on the potential of the new parameter, cerclage area (CA), to predict preterm birth.

STUDY DESIGN: This prospective observational study at a tertiary care center (January 2022–June 2024) included 45 pregnant women who underwent McDonald transvaginal cerclage per ACOG guidelines. Postoperative transvaginal ultrasonography assessed cervical wall thickness, suture depth, cervical length above and below the cerclage, and cerclage area. Participants were followed to delivery; obstetric and neonatal outcomes were recorded.

RESULTS: In the assessments conducted, 48.9% of the cases were preterm, whereas 51.1% were term deliveries. Classical parameters and CA did not differ significantly between the preterm and term groups (p>0.05). However, the CA was significantly correlated with the depths of both the anterior and posterior sutures, and with the thickness of the posterior cervical wall (p<0.05).

CONCLUSION: Although the cerclage area does not significantly predict preterm birth, it may be a useful quantitative tool for assessing cervical structure after cerclage placement. Larger, multicenter studies are needed to clarify the clinical value of this metric.

Fetal Growth Restriction and Maternal Serum Phthalate Levels in Pregnancy: A Case-Control Study

2025-12-02T11:00:39+03:00

OBJECTIVE: The study aimed to investigate the association between maternal serum di-2-ethylhexyl phthalate (DEHP) levels-DEHP is a chemical widely used in plastics, as well as in the food and cosmetics industries-and fetal growth restriction (FGR, a condition where the fetus fails to achieve expected growth).

STUDY DESIGN: This study included 84 women between April and July 2019: 40 with fetal growth restriction and 44 gestational age-matched controls. Maternal plasma levels of DEHP were measured with sensitive, specific immunoassays and with Ultra Performance Liquid Chromatography-Mass Spectrometry (UPLC-MS).

RESULTS: Patient ages ranged from 18 to 40 years (mean 27.16±5.70). Age, BMI, and smoking distributions did not differ significantly between groups (p>0.05). Serum DEHP levels were significantly higher in the FGR (+) group than in the FGR (−) group (p=0.001; p<0.01). Based on this, we calculated a serum DEHP cut-off using ROC analysis and diagnostic screening. The area under the ROC curve was 0.693 [95% CI: 0.580–0.807; p=0.002; p<0.01]. At a cut-off >107.93, sensitivity was 70.0%, specificity 68.2%, PPV 66.7%, NPV 71.4%, accuracy 69.1%, and Youden index 0.382.

CONCLUSION: This study demonstrates a significant association between higher maternal phthalate levels and fetal growth restriction. These findings contribute to emerging evidence linking phthalate exposure to impaired fetal development; however, maternal serum phthalate levels are not currently suitable for clinical prediction or early detection of FGR. To address these limitations, further studies with larger cohorts and longitudinal designs are needed to confirm these associations and explore underlying mechanisms.

Diagnostic Value of GGT/PLT, AST/ALT, and AST/PLT Ratios in Intrahepatic Cholestasis of Pregnancy: A Retrospective Analysis

2025-12-10T10:17:20+03:00

OBJECTIVES: This study evaluated the diagnostic performance of gamma-glutamyltransferase-to-platelet (GGT/PLT), aspartate aminotransferase-to-alanine aminotransferase (AST/ALT), and aspartate aminotransferase-to-platelet (AST/PLT) ratios in intrahepatic cholestasis of pregnancy (ICP), and their association with composite adverse perinatal outcomes (CAPO).

STUDY DESIGN: A retrospective cohort analysis was conducted of 329 pregnant women (156 with ICP, 173 controls) who delivered at a tertiary center between November 2022 and November 2024. ICP was diagnosed in the presence of pruritus and fasting serum bile acid levels ≥10 μmol/L. Maternal demographics, liver enzymes, platelet counts, and perinatal outcomes were retrieved from hospital records. Ratios were calculated from second-trimester laboratory results. Diagnostic performance was evaluated using receiver operating characteristic (ROC) analysis. CAPO was defined as at least one of the following: preterm birth, fetal growth restriction, oligohydramnios/polyhydramnios, premature rupture of membranes, or intrapartum fetal distress.

RESULTS: Compared with controls, the ICP group had higher GGT/PLT (0.05 [0.07] vs. 0.04 [0.07], p<0.001) and AST/PLT ratios (0.19 [0.30] vs. 0.07 [0.04], p<0.001), and a lower AST/ALT ratio (0.76 [0.55] vs. 1.09 [0.91], p<0.001). Among the ratios, AST/PLT provided the highest diagnostic accuracy for distinguishing ICP (AUC=0.840; cut-off >0.083; sensitivity 77.3%; specificity 74.8%), followed by AST/ALT (AUC=0.788; cut-off <1.060; sensitivity 75.6%; specificity 75.0%), with GGT/PLT showing the lowest diagnostic value (AUC=0.668; cut-off >0.044; sensitivity 67.5%; specificity 64.1%). The ICP group had increased rates of preterm birth (33.3% vs. 10.8%, p<0.001), NICU admission (22.4% vs. 10.4%, p=0.003), and CAPO (50.0% vs. 13.9%, p<0.001), but none of the assessed ratios were significantly associated with CAPO in ICP cases.

CONCLUSIONS: Among the indices evaluated, AST/ALT and AST/PLT ratios showed moderate-to-good accuracy in diagnosing ICP, while the GGT/PLT ratio exhibited moderate accuracy. These indices can be useful, cost-effective, and accessible adjunctive tools for ICP diagnosis, particularly in settings where bile acid testing is unavailable. However, their ability to predict perinatal outcomes is limited.

The Role of Systemic Inflammation Response Index for Predicting the Prognosis of Threatened Miscarriage

2025-07-29T14:57:26+03:00

OBJECTIVE: To investigate the value of the systemic inflammation response index (SIRI) in predicting prognosis in pregnant women with abortus imminens (AI).

STUDY DESIGN: The study included 203 pregnant women (≤12 weeks) who presented and were hospitalized with AI in our hospital. Eighty-three pregnant women with spontaneous abortions comprised the study group, and 120 women with healthy pregnancies comprised the control group. Demographic and laboratory parameters were obtained from the patients' medical records. SIRI was calculated using the formula: neutrophil count × monocyte count/lymphocyte count. SIRI values were compared between groups.

RESULTS: The rate of spontaneous abortion in pregnant women with AI was 40.9% in our study population. The SIRI level was found to be significantly higher in the study group than in the control group (p<0.001). The regression analysis showed that the SIRI level is an independent marker for spontaneous abortion, and it was found that when the SIRI level increases by 1 unit, the risk of abortion increases by 25.4% (OR=1.254, p=0.003). We found that, with a cut-off value of 2.11, SIRI predicted spontaneous abortion with 68.7% sensitivity and 65.8% specificity.

CONCLUSION: The SIRI level, a non-invasive, simple, and cheap marker, could be used to assess the spontaneous abortion risk of pregnant women presenting with AI. However, future studies with a larger number of patients and serial measurements of the SIRI level are needed to determine the optimal value for predicting the disease.

Assessment of Thyroid Function Disorders and C-Peptide, CA 19-9, CA-125 Levels in Patients with Gestational Diabetes Mellitus

2025-12-07T21:28:23+03:00

OBJECTIVES: We aimed to evaluate thyroid function disorders and determine C-peptide, CA 19-9, and CA-125 levels in pregnant women diagnosed with gestational diabetes mellitus.

STUDY DESIGN: Data were collected from 80 women aged 18-45 years who were admitted to the Perinatology outpatient clinic of Trakya University Faculty of Medicine at 24-28 weeks of gestation. Sociodemographic characteristics, general health information, pre-pregnancy weight, and current weight were obtained. All participants underwent a 75 g oral glucose tolerance test. Based on the test results, the participants were divided into two groups: those with (n=40) and without gestational diabetes mellitus (GDM) (n=40). Thyroid function tests were assessed by measuring thyroid-stimulating hormone (TSH), free triiodothyronine (fT3), free thyroxine (fT4), anti-thyroglobulin antibody (TgAb), and thyroid peroxidase antibody (anti-TPO) levels. Additionally, amniotic fluid index, complete blood count parameters, blood C-peptide, CA 19-9, and CA-125 values were evaluated.

RESULTS: Fasting blood glucose, 1-hour and 2-hour OGTT values, and HbA1c values were higher in pregnant women with GDM. There was no significant difference in mean amniotic fluid index values or in thyroid function test results between pregnant women with GDM and those without. While CA 19-9 values were higher in the GDM group, there was no significant difference in C-peptide and CA-125 levels. Also, higher mean corpuscular volume (MCV) and erythrocyte distribution width (RDW) values were observed in the GDM group.

CONCLUSION: Women with GDM have higher CA 19-9 levels than healthy pregnant women. The clinical significance of this finding should be expressed with long-term follow-up studies.

A Cross-Sectional Study of Maternal Near Miss Events and Maternal Deaths Using the Operational Guidelines of the Government of India 2014

2025-12-09T11:38:09+03:00

OBJECTIVE: Maternal near miss (MNM) events share many pathological and circumstantial factors with maternal mortality. Compared with maternal mortality, near-miss events are more common; thus, MNM evaluation is used to assess the quality of obstetric care in a health facility.

STUDY DESIGN: This is a prospective, observational, cross-sectional study of critically ill women admitted to the intensive care unit, using the operational Guidelines of the Government of India 2014. Maternal deaths during this period were also reviewed. The MNM-to-mortality ratio, MNM incidence ratio, and maternal mortality index were determined, along with the identification of MNM and maternal mortality causes and risk factors. Data on demographics, obstetric history, underlying disorders leading to ICU admission, lifesaving interventions performed, and treatment delays were collected and analysed.

RESULTS: There were 7,669 deliveries and 7,222 live births. Sixty-six cases were diagnosed as MNM, and there were 17 maternal deaths. The incidence of MNM was 9.13 per 1,000 live births. The MNM-to-mortality ratio was 3.8:1. The maternal mortality ratio was 142 per 1,00,000 live births. The three leading complications in MNM were haemorrhage (50%), hypertensive disorders of pregnancy (31.8%), and sepsis (10.6%). Level 1 delay was present in 57.5% of cases, followed by level 3 delay in 51.5% of MNM cases.

CONCLUSIONS: Haemorrhage and hypertensive disorders of pregnancy remain the leading cause of MNM and mortality.