Identification of Fetuses at Increased Risk of Trisomies in the First Trimester Using Axial Planes.

INTRODUCTION: The measurement of nuchal translucency (NT) is crucial for assessing risk of aneuploidies in the first trimester. We investigate the ability of NT assessed by a transverse view of the fetal head to detect fetuses at increased risk of common aneuploidies at 11-13 weeks of gestation. METHODS: We enrolled a nonconsecutive series of women who attended our outpatient clinic from January 2020 to April 2021 for aneuploidy screening by means of a first trimester combined test. All women were examined by operators certified by the Fetal Medicine Foundation. In each patient, NT measurements were obtained both from the median sagittal view and transverse view. We calculated the risk of aneuploidy using NT measurements obtained both with sagittal and axial scans, and then we compared the results. RESULTS: A total of 1,023 women were enrolled. An excellent correlation was found between sagittal and transverse NT measurements. The sensitivity and specificity of the axial scan to identify fetuses that were deemed at risk of trisomy 21 using standard sagittal scans were 40/40 = 100.0% (95% confidence interval [CI]: 91.2-100.0) and 977/983 = 99.4% (95% CI: 98.7-99.7), respectively. The sensitivity and specificity of the axial scan to identify fetuses at risk of trisomy 13 or 18 were 16/16 = 100.0% (95% CI: 80.6-100.0) and 1,005/1,007 = 99.8% (95% CI: 99.3-99.9). CONCLUSIONS: When the sonogram, a part of combined test screening, is performed by an expert sonologist, axial views can reliably identify fetuses at increased risk of trisomies without an increase in false negative results.

The cumulative incidence of neonatal metabolic acidemia after terminal bradycardia in the 2nd stage of labor: a survival-based model.

PURPOSE: The aim of the study was to estimate by a survival analysis model the hazard function (HF) for neonatal metabolic acidemia (MA) throughout the 2nd stage of labor (2STG) at the time of occurrence of a terminal bradycardia ≥ 10 min requiring expedited delivery, and the cumulative incidence function (CIF) for MA according with the duration of bradycardia stratified in 10-12 min and > 12 min. METHODS: Singleton pregnancies experiencing terminal fetal bradycardia requiring expedited delivery in the 2STG at 38 + 0-41 + 3 weeks and delivering in the year 2019, were identified. The presence of MA (pH < 7 and/or BE ≤ - 12 mmol/L) was determined based on the acid-base status in the umbilical artery cord blood. Survival analysis was used to assess the hazard function (HF) and the cumulative incidence function (CIF) for MA occurring after terminal fetal bradycardia, at the 2STG. RESULTS: Out of a non-consecutive population of 12,331 pregnancies, there were 52 cases that fit the inclusion criteria. Twenty-four (46.2%) of those develop MA. Abnormal quantitative pH values and the HF for MA correlated with the duration of 2STG at the time of bradycardia onset, but not with bradycardia duration. After 60 min of duration of 2STG, the HF (or instantaneous rate of failure) increased dramatically (from 1.2 to 20 about at 120 min). At paired duration of 2STG, a higher CIF was observed for the terminal bradycardia > 12 min. CONCLUSION: Forty-six percent of term fetuses with terminal bradycardia had MA at birth. Despite the low sensitivity and a non-significant association with quantitative pH values, the duration of terminal bradycardia in the 2STG is associated with a higher CIF for MA.

Second trimester uterine arteries pulsatility index is a function of placental pathology and provides insights on stillbirth aetiology: A multicenter matched case-control study.

INTRODUCTION: The aim of this study was to investigate the relationships between maternal vascular malperfusions (MVM) and second trimester uterine arteries pulsatility index (UtA-PI) in cases of stillbirth (SB), compared to live-birth (LB) matched controls. METHODS: This was a multicentre, observational, matched case-control study performed at five referral maternity centres over a 4-year period including SB and LB control pregnancies at high-risk for preeclampsia (PE) and/or fetal growth restriction (FGR), matched and stratified for UtA-PI MoM quartiles values of the SB cases. Logistic regression was used to assess the rates of each MVM finding, within each increasing MoM quartile subcategory in SB and matched LB controls. RESULTS: 82 SB and 82 LB matched high-risk pregnancies were included. Placental hypoplasia, placental infarction, retroplacental hematoma, distal villous hypoplasia and accelerated villous maturation showed a significant correlation with UtA-PI. At univariable analysis, placental infarction and distal villous hypoplasia were more highly associated with the increasing quartile uterine Doppler measurements (odds ratio 2.24 and 2.23, respectively). Logistic regressions showed a significant positive and independent association between rates of retroplacental hematoma or distal villous hypoplasia and stillbirth within corresponding UtA-PI MoM quartiles (odds ratio 5.21 and 2.28, respectively). DISCUSSION: We are providing evidence for characterization of two major etiological stillbirth categories, characterized by a positive or absent association with UtA-PI impairment and specific histopathological placental MVM lesions. Our results support a strict third trimester follow-up of cases with increased second trimester UtA-PI, in order to improve the reproductive chances of these pregnant patients.

Fitz-Hugh-Curtis Syndrome Secondary to Postpartum Endometritis: Case Report and Literature Review.

We report a case of Fitz-Hugh-Curtis syndrome (FHCS) 1 week after an urgent cesarean section. Although its onset in the postpartum period is poorly reported in the literature, we suggest that FHCS can complicate puerperal endometritis; therefore, it should be consider in differential diagnosis in puerpera with right upper quadrant pain. Again, it can be useful to perform a contrast computed tomography that allows early diagnosis and conservative treatment.

Greater fetal crown-rump length growth with the use of in vitro fertilization or intracytoplasmic sperm injection conceptions after thawed versus fresh blastocyst transfers: secondary analysis of a prospective cohort study.

OBJECTIVE: To compare first-trimester fetal crown-rump length (CRL) measurements in pregnancies obtained after thawed blastocyst transfer versus fresh blastocyst transfer after in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI). DESIGN: Prospective longitudinal cohort study of CRL Z scores with adjustment for major confounders. SETTING: University-affiliated obstetrics, fetal medicine, and fertility units. PATIENT(S): Singleton gestations conceived via IVF/ICSI and fresh or thawed blastocyst transfer with ultrasound performed at 6-14 weeks of gestational age. INTEVENTION: None. MAIN OUTCOME MEASURE(S): CRL Z scores. RESULT(S): A total of 365 IVF/ICSI pregnancies were recruited (fresh: 161; thawed: 204). The mean CRL Z score at 6-14 weeks was significantly greater in thawed versus fresh transfers. Different growth trajectories between thawed and fresh transfers were detected: Mean CRL Z score was 0 at 65 days in fresh versus 80 days in frozen. Comparisons of both fresh and thawed transfers with reference values from the general population confirmed significantly lower CRL Z scores in both IVF/ICSI groups (P<.001). The risks of CRL <5th percentile in fresh versus thawed were, respectively 68% vs. 40% at 6 weeks and 2% vs. 1% at 14 weeks. A significant positive correlation between CRL Z scores and birth weight Z scores was found only for fresh transfers, not for thawed. CONCLUSION(S): At 6-14 weeks, thawed blastocyst transfers after IVF/ICSI conceptions present greater CRLs compared with fresh, and both IVF/ICSI groups show smaller CRLs than the general population. This effect is particularly evident before 9 weeks and it may favor birth weight difference of thawed versus fresh BT pregnancies.

Quantification of Posterior Risk Related to Intrapartum FIGO 2015 Criteria for Cardiotocography in the Second Stage of Labor.

INTRODUCTION: Intrapartum cardiotocography (CTG) was used for several decades to detect a stressed fetus so that delivery can be expedited to prevent birth asphyxia. The main aim of the study was to calculate the risk of neonatal acidemia (pH ≤ 7.10) according to duration of the 2nd stage of labor and occurrence of the International Federation of Gynecology and Obstetrics (FIGO) 2015 CTG classification parameters. MATERIALS AND METHODS: This was a retrospective case-control study on 552 pregnancies receiving continuous CTG monitoring in labor and immediate hemogasanalysis at birth. Cases with umbilical artery (UA) pH ≤ 7.10 and controls with UA pH ≥ 7.10 were matched for parity and gestational age at delivery, with ratio 1:5. Logistic regression analysis, adjusted for the expected risk in the general population, was used to calculate the baseline risk of UA pH ≤ 7.10 in the absence of any CTG pathological feature and those associated with pathological CTG patterns occurring in the 2nd stage according to FIGO 2015. RESULTS: Seventy-three cases and 387 controls reached 2nd stage and were included in the analysis. For those reaching 2nd stage, the mean adjusted risk of acidemia associated with nonpathological CTG was 1.6%. Stratification of risk according to duration of the 2nd stage yielded risks of neonatal acidemia of 1.23, 2.08, 5.81, and 15.22% at 30, 60, 120, and 180 min, respectively. Bradycardia >10 min was associated with risk of neonatal acidemia of 9.9 and 15.8% for 2nd-stage durations of 30 and 60 min, respectively. Risks associated with 1 prolonged deceleration >5 min were 6.80, 11.08, 27.0, and 51.0% at 30, 60, 120, and 180 min, respectively. Repetitive late or prolonged decelerations >30 min were associated with risk of neonatal acidemia of 2.43, 4.14, 11.17, and 26.45% at 30, 60, 120, and 180 min, respectively. CONCLUSION: The risk of neonatal acidemia is directly proportional to duration of the 2nd stage, irrespective of the presence of CTG abnormalities, increasing 12-fold (1.2-15.3%) from 30 to 180 min. Occurrence of FIGO 2015 pathological CTG patterns showed a decreasing impact from bradycardia >10 min to decelerations >5 min, recurrent later or prolonged decelerations >30 min, and nonpathological CTG.

Postnatal Outcome and Associated Anomalies of Prenatally Diagnosed Right Aortic Arch with Concomitant Right Ductal Arch: A Systematic Review and Meta-Analysis.

Right aortic arch presents a reported incidence of 0.1% of the general population; the aim of our study was to evaluate the risk of associated intracardiac (ICA), extracardiac (ECA), or chromosomal abnormalities in fetuses with right aortic arch (RAA) and concomitant right ductal arch (RDA). A systematic review of the literature selected 18 studies including 60 cases of RAA/RDA. A meta-analysis with a random effect model calculated for each outcome the pooled crude proportion of associated abnormal outcomes in cases of RAA/RDA and the pooled proportions and odds ratios in RAA with LDA or RDA. Quality assessment of the included studies was achieved using the NIH quality assessment tool for case series studies. RAA/RDA presents risk of associated conotruncal CHDs of about 30% and risk of 22q11 microdeletion in the region of 1%. Two-thirds of 22q11 microdeletions had concomitant thymic hypoplasia and no other chromosomal defects were described. Risks for ICA, ECA, 22q11 microdeletion, and aberrant left subclavian artery are not substantially different in RAA with right or left arterial duct. RAA increases the risk of associated cardiac defects regardless of laterality of the ductal arch. In isolated RDA/RAA cases, absolute risks of extracardiac associated problems or surgery are rather low, we would therefore recommend reassurance, particularly when the thymus and karyotype are normal.

What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs.

BACKGROUND: Syndromic congenital heart disease accounts for 30% of cases and can be determined by genetic, environmental or multifactorial causes. In many cases the etiology remains uncertain. Many known genes are responsible for specific morphopathogenetic mechanisms during the development of the heart whose alteration can determine specific phenotypes of cardiac malformations. CASE PRESENTATION: We report on two cases of association of conotruncal heart defect with facial dysmorphisms in sibs. In both cases the malformations' identification occurred by ultrasound in the prenatal period. It was followed by prenatal invasive diagnosis. The genetic analysis revealed no rearrangements in Array-CGH test, while gene panel sequencing identified a new hemizygous variant of uncertain significance (c.887G > A; p.Arg296Gln) in the MED12 gene, located on the X chromosome and inherited from the healthy mother. CONCLUSION: No other reports about the involvement of MED12 gene in syndromic conotruncal heart defects are actually available from the literature and the international genomic databases. This novel variant is a likely pathogenic variant of uncertain significance and it could broaden the spectrum of genes involved in the development of congenital heart diseases and the phenotypic range of MED12-related disorders.

Combined inguinal hernia in the elderly. Portraying the progression of hernia disease.

INTRODUCTION: Identification of a combined hernia is a common occurrence in the course of inguinal hernia repair. This type of protrusion disease seems to affect the elderly, in particular. Very few investigations have been carried out to ascertain the structural changes that occur in the groin affected by this clinical condition. METHOD: Analysis of intraoperative findings of combined inguinal hernias evidenced in the elderly, from the most recent 100 groin hernia repair procedures carried out by a single operator, represents the basis of the article. Protrusions that presumably represent the forerunner of this type of hernia were also analyzed: double ipsilateral inguinal hernias composed of a direct and an indirect protrusion. The gross anatomical, as well as histological, modifications occurring during the development of combined protrusions were also evaluated. RESULTS: Combined hernia was the most frequent protrusion in patients over 65 years, accounting for 36% of the total in this patient group. In the same patient cohort, double inguinal hernia further involves 22% of elderly subjects. Macroscopically, progressive disruption of the inguinal back wall and degenerative reabsorption of the inferior epigastric vessels were evidenced. Histologically, inflammatory infiltrate, significant nerve and vascular injuries, along with severe muscle degeneration were recognized. CONCLUSIONS: The results seem to confirm that inguinal hernia is an unremitting progressive disease caused by chronic compressive structural damage. Combined hernias represent a frequent clinical condition in the elderly consequent to long-term degenerative damage. Therapy of combined protrusions must consider the impact of visceral vector forces.