First trimester combined screening for fetal aneuploidies enhanced with additional ultrasound markers: an 8-year prospective study

Objectives: To describe our screening population and audit of the performance of first-trimester screening for Down syndrome, based on a combined test, enhanced with additional ultrasound markers, over the whole period of the study. Material and methods: We performed a prospective study from 2009 to 2016, which included 1358 singleton fetuses with a crown-rump length of 45–84 mm. The risk of aneuploidy was calculated using nuchal translucency, fetal heart rate (FHR), and additional markers, such as nasal bone (NB), tricuspid flow (TF) and ductus venosus (DV), combined with maternal serum free β-human chorionic gonadotropin (fβ-hCG) and pregnancy-associated plasma protein-A (PAPP-A). Results: 87% of patients were evaluated using all the additional ultrasound markers and 97% of patients were assessed using at least two markers, in any combination. 70.5% of patients were also evaluated using maternal serum biochemistry. The most common risk calculation used nuchal translucency, FHR, all additional ultrasound markers, fβ-hCG and PAPP-A in 851 (62.7%) of cases. The adjusted risk of trisomy 21 was greater than 1:100 in 65 (4.8%) women. Of these patients, 58 (87.7%) chose to have an invasive test. There were 24 aneuploid fetuses (1.7%); and from these we identified 12 (50%) trisomy 21, 6 (25%) sex chromosome anomalies, with the remainder being triploidy and trisomy 18/13. The combined test detected 11 of the 12 cases as having trisomy 21, with a first trimester detection rate of 91.7%. 39 fetuses (2.8%) had various types of structural anomalies. Conclusions: The combined test enhanced with all additional ultrasound markers did not show any substantial improvement in T21 detection rate, when compared with using only one of the additional markers

First trimester screening and progesterone levels in HIV positive women under HAART therapy

Objectives: HIV (Human Immunodeficiency Virus) that ultimately determines the development of AIDS evolved in time in a pandemic disease.  Our study evaluated first trimester markers for aneuploidy, serum progesterone levels in first and second trimester in HIV positive pregnant women under HAART therapy. Material and methods: It was a prospective study that took place between January 2017- December 2019 in ʺCuza-Vodăʺ Hospital from Romania. We analysed first trimester PAPP-A, βHCG, first and second trimester progesterone of 25 HIV positive pregnant women under HAART therapy and compared them with seronegative pregnant women. Results: Both βHCG and first and second trimester progesterone were lower in HIV positive women under HAART therapy. Discussion: These alterations of first trimester markers for aneuploidy might lead to an over estimation of the risk for Down syndrome. Conclusions: Obstetricians need to know the alterations of first trimester markers for aneuploidy so they can correctly advise these women accordingly

Congenital Abnormalities of the Fetal Heart

Congenital heart defects (CHDs) are the most frequent congenital malformations, the costliest hospital admissions for structural defects and the leading cause of infant general and malformations related mortality. Fetal echocardiography represents a skilled ultrasound examination, because of the complexity, physiological and structural particularities of the fetal heart. The efficiency of the cardiac scan is reported with great variation, depending on the scanning protocol, examiner experience and equipment quality but CHDs remains among the most frequently missed congenital abnormalities

Heterogeneous Distribution of Fetal Microchimerism in Local Breast Cancer Environment.

Fetal cells enter maternal circulation during pregnancy and persist in the woman's body for decades, achieving a form of physiological microchimerism. These cells were also evidenced in tumors. We investigated the frequency and concentration of fetal microchimerism in the local breast cancer environment. From 19 patients with confirmed breast neoplasia, after breast surgical resection, we collected three fresh specimens from the tumor core, breast tissue at tumor periphery, and adjacent normal breast tissue. The presence of male DNA was analyzed with a quantitative PCR assay for the sex determining region gene (SRY) gene. In the group of women who had given birth to at least one son, we detected fetal microchimerism in 100% of samples from tumors and their periphery and in 64% (9 of 14) of those from normal breast tissue. The tissues from the tumor and its periphery carry a significantly increased number of SRY copies compared to its neighboring common breast tissue (p = 0.005). The median of the normalized SRY-signal was about 77 (range, 3.2-21467) and 14-fold (range, 1.3-2690) greater in the tumor and respectively in the periphery than in the normal breast tissue. In addition, the relative expression of the SRY gene had a median 5.5 times larger in the tumor than in its periphery (range, 1.1-389.4). We found a heterogeneous distribution of fetal microchimerism in breast cancer environment. In women with sons, breast neoplasia harbors male cells at significantly higher levels than in peripheral and normal breast tissue

Safety Indices during Fetal Echocardiography at the Time of First-Trimester Scan Are Machine Dependent.

The aim of our study was to evaluate the thermal index (TI) and mechanical index (MI), during the assessment of the fetal heart at the time of first-trimester scan, with different ultrasound machines. This was part of an observational study conducted in patients undergoing routine first-trimester screening. Cases were examined with Voluson E8 or 730Pro scanners using 2-8 MHz transabdominal probes. TI and MI were retrieved from the saved displays while in gray mode, color flow mapping and pulsed-wave (PW) Doppler examinations of the fetal heart and also from the ductus venosus (DV) assessment. We evaluated 552 fetal cardiac examinations, 303 (55%) performed with Voluson E8 and 249 (45%) with Voluson 730Pro ultrasound machines. The gray-scale exam of the heart and the PW Doppler DV assessment had TI values significantly lower for the Voluson E8 group (median, 0.04 vs. 0.2 and 0.1 vs. 0.2, respectively). The MI values from gray-scale and color flow mapping of the heart were significantly lower (median, 0.6 vs, 1.2 and 0.7 vs. 1) and for PW Doppler exam of the tricuspid flow were significantly higher (median 0.4 vs. 0.2) in the Voluson E8 group. The TI values from Doppler examinations of the heart, either color flow or PW imaging and MI values from DV assessment were not significantly different between the two groups. A different (newer) generation of ultrasound equipment provides lower or at least the same safety indices for most of the first-trimester heart examinations

Relevance of Biomarkers Currently in Use or Research for Practical Diagnosis Approach of Neonatal Early-Onset Sepsis

Neonatal early-onset sepsis (EOS) is defined as an invasive infection that occurs in the first 72 h of life. The incidence of EOS varies from 0.5–2% live births in developed countries, up to 9.8% live births in low resource settings, generating a high mortality rate, especially in extremely low birth weight neonates. Clinical signs are nonspecific, leading to a late diagnosis and high mortality. Currently, there are several markers used for sepsis evaluation, such as hematological indices, acute phase reactants, cytokines, which by themselves do not show acceptable sensitivity and specificity for the diagnosis of EOS in neonates. Newer and more selective markers have surfaced recently, such as presepsin and endocan, but they are currently only in the experimental research stages. This comprehensive review article is based on the role of biomarkers currently in use or in the research phase from a basic, translational, and clinical viewpoint that helps us to improve the quality of neonatal early-onset sepsis diagnosis and management

Maternal Body Mass Index Trends and Weight Gain in Singleton Pregnancies at the Time of Fetal Anatomic Survey: Changes in the Last Decade and New Trends in the Modern Era

(1) Background: the worldwide impact of overweight and obesity is rising, increasingly resembling an epidemic (a price we have to pay for our new way of living). (2) Methods: our study aims to evaluate the temporal trends and patterns of singleton pregnant women’s BMI (body mass index) in our region during a 12-year time frame between 2010 and 2021. (3) Results: We noticed a statistically significant difference between the BMIs of nulliparous and multiparous women and a significantly increased pregestational BMI in women with previous ART (assisted reproductive technology) procedures. Smoking pregnant women had a higher second trimester weight gain, regardless of parity. Women with folic acid supplementation alone had a higher BMI than those with folic acid and multivitamin intake. The weight of both nulliparous and multiparous women with chronic hypertension was statistically significantly higher in all three timeframes. Global weight gain did not reveal any statistically significant changes concerning women with pregestational diabetes, regardless of parity and the pregnancy trimester. (4) Conclusions: our article describes the trends in obesity and overweight in our middle-income country, in which this pathology is continuously growing, negatively influencing our reproductive-aged women and future generations

The maximum acoustic output during evaluation of the fetal heart at the time of the first trimester scan.

<p>* recoded data.</p><p>Data are given as median (minimum—maximum). All comparisons were made using Mann–Whitney U test. PD TR, pulsed-wave Doppler tricuspid flow assessment; PD DV, pulsed-wave Doppler from the ductus venosus assessment.</p><p>The maximum acoustic output during evaluation of the fetal heart at the time of the first trimester scan.</p

Pregnancy Outcomes in a Cohort of Patients Who Underwent Double-J Ureteric Stenting—A Single Center Experience

Background and Objectives: Minimally invasive procedures, such as double-J ureteric stenting, could be a promising therapeutic alternative to conservative management of obstructive urinary tract pathology. We aimed to evaluate the safety and effectiveness of double-J ureteric stenting in pregnant women with ureterohydronephrosis or urolithiasis, along with their infectious complications, and to assess the pregnancy outcomes of this cohort of patients in comparison with a control group. Materials and Methods: This observational retrospective study included 52 pregnant patients who underwent double-J ureteric stenting for urologic disorders in the Urology Department of ‘C.I. Parhon’ University Hospital, and who were followed up at a tertiary maternity hospital- ‘Cuza-Voda’, Iasi, Romania. The control group (63 patients) was randomly selected from the patient’s cohort who gave birth in the same time frame at the maternity hospital, without urinary pathology. Clinical, sonographic, and laboratory variables were examined. Descriptive statistics, non-parametric tests, and a one-to-one propensity score-matched analysis were used to analyze our data. Results: The univariate analysis indicated a significant statistical difference between the control group and the interventional group regarding maternal age (p = 0.018), previous maternal history of renal colic (p = 0.005) or nephrolithiasis (p = 0.002). After applying the propensity score-matched analysis, cesarean delivery rates (p p = 0.039), premature rupture of membranes (p = 0.026), preterm birth rates (p = 0.002), and post-partum UTI rates (p = 0.012) were significantly different between the control group and the matched treatment group. Ureterohydronephrosis, whether simple (n = 37; 71.2%) or infected (n = 13; 25%), was the main indication for double-J ureteric stenting. Complications such as pain (n = 21; 40.3%), stent migration (n = 3; 5.76%) or encrustation (n = 2; 3.84%), as well as reflux pyelonephritis (n = 2; 3.84%) and gross hematuria (n = 1; 1.92%) were recorded during follow-up. Conclusions: Our results show that double-J stenting is a safe and effective treatment option for pregnant patients with obstructive urological disorders