Left ventricular remodeling in twin pregnancy, noninvasively assessed using hemodynamic forces and pressure-volume relation analysis: prospective, cohort study.

This study was designed to prospectively investigate the pattern of intraventricular hemodynamic forces (HDFs) associated with left ventricular (LV) function and remodeling in women with uncomplicated twin pregnancy. Transthoracic echocardiography was performed on 35 women (aged 35.9 ± 4.7-yr old) during gestation (T1, <14 wk; T2, 14-27 wk; T3, >28 wk) and 6-7 mo after delivery (T0). LV HDFs were computed from echocardiography long-axis data sets using a novel technique based on endocardial boundary tracking, both in apex-base (A-B) and latero-septal (L-S) directions. HDF distribution was evaluated by L-S over A-B HDF ratio (L-S:A-B HDF ratio). At T1, L-S:A-B HDF ratio was higher than in T0 (P < 0.05) indicating HDF misalignment. At T2, a slight impairment of cardiac function was then recorded with a reduction of global longitudinal strain (GLS) and left ventricular end-systolic elastance (Ees) at pressure-volume relationship analysis versus T1 (both P < 0.05). Finally, at T3, when HDF misalignment and LV contractility reduction (GLS and Ees) were all restored, a rightward shift of the end-diastolic pressure-volume relationship (EDPVR) with an increase of ventricular capacitance was documented. In twin pregnancy, HDF misalignment in the first trimester precedes the slight temporary decrease in left ventricular systolic function in the second trimester; at the third trimester, a rightward shift of the EDPVR was associated with a realignment of HDF and normalization of ventricular contractility indexes. These coordinated changes that occur in the maternal heart during twin pregnancy suggest the role of HDFs in cardiac remodeling.NEW & NOTEWORTHY These changes indicate that 1) the misalignment of hemodynamic forces (HDFs) precedes a mild reduction in systolic function in twin pregnancy and 2) the positive left ventricular (LV) response to hemodynamic stress is mainly due to an improved diastolic function with enhanced LV cavity compliance.

Small-for-gestational-age fetus diagnosed in the second trimester: Possible etiologies and short-term neonatal outcomes.

INTRODUCTION: The aim of our study was to investigate the causes of fetal growth <10th centile diagnosed <26 weeks' gestation in singleton pregnancies and compare pregnancy outcomes in relation to the identified etiology. MATERIAL AND METHODS: Historical cohort study conducted in two Italian hospitals which included all small-for-gestational-age fetuses diagnosed between 18+0 and 26+0 weeks over a 10-year period. Fetuses were divided into three groups depending on the prenatally suspected etiology: chromosomal abnormalities (Group 1), malformations (Group 2) and isolated (Group 3). These groups were compared regarding pregnancy outcomes. Fetuses in Group 3 were divided into small-for-gestational-age and fetal growth restriction following the Delphi Consensus criteria and the outcomes were further compared. Fisher's Exact or Mann-Whitney test were used for comparison of groups. RESULTS: In all, 435 fetuses were included. Of these, 20 cases (4.6%) were associated with chromosomal abnormalities (Group 1), 98 (22.5%) with fetal malformations (Group 2) and 317 (72.9%) were isolated (Group 3). A higher percentage of live births was reported for Group 3 (P < 0.001). Termination of pregnancy was more common in Group 1 (P < 0.001). No differences in gestational age at delivery, birthweight, intrauterine death or neonatal death were detected within groups. Growth-restricted fetuses had lower gestational age at delivery, birthweight and number of live births (P < 0.001), higher rates of termination of pregnancy, intrauterine death (P < 0.001) and neonatal death <10 days (P = 0.002) compared to small-for-gestational-age. In 17 cases a chromosomal abnormality, genetic syndrome or adverse neurological outcome was diagnosed after birth: six from Group 2 (11.3% of live births in this group) and 11 from Group 3 (4.3%). CONCLUSIONS: We report that fetal growth <10th percentile diagnosed before 26 weeks is not isolated before birth in 27% of cases. Malformations and chromosomal abnormalities are common etiologies; therefore, detailed anomaly scans and invasive testing should be offered. In addition, there is a residual risk of neonatal death and postnatal diagnosis of a genetic syndrome or neurodevelopmental impairment despite normal prenatal tests. These results expand the small amount of information on the outcome of cases with very early diagnosis of impaired fetal growth currently available and highlight the importance of detailed counseling with couples.

Urine Biochemistry of a Human Fetus with Urinary Tract Obstruction - A Case Report.

INTRODUCTION: Fetal lower urinary tract obstruction (LUTO) can be mild or severe with oligohydramnios, renal dysplasia and pulmonary hypoplasia. Fetal urine biochemical markers correlate with fetal prognosis and, if favorable, surgical intervention is feasible. METHODS: We report a patient in her 18th gestational week whose fetus was diagnosed with LUTO and underwent fetal urine sampling for calcium, sodium, chloride, beta2-microglobulin and total protein of the routine LUTO panel, with the addition of creatinine, glucose, phosphate, urea, ammonia, albumin, and NGAL. RESULTS: Although the routine fetal urine biochemistry seemed to be favorably trending favorably, sodium, beta2-microglobulin, glucose, and urea did not decrease to the reference ranges, and ammonia and creatinine were lower than the reference ranges. Ultrasound demonstrated no improvement of the obstruction. CONCLUSIONS: This case highlights the need to acquire further experience with biochemical fetal urine markers in order to better manage LUTO.

Difference in cardiac remodeling between female athletes and pregnant women: a case control study.

OBJECTIVES: The aim of this study was to detect possible differences in reversible cardiac remodeling occurring in sport training and twin pregnancy. BACKGROUND: cardiac remodeling occurs in athletes and pregnant women due to training and fetal requirements, respectively. These changes could be apparently similar. METHODS: 21 female elite athletes (23.2 ± 5.3 years), 25 women with twin pregnancies (35.4 ± 5.7 years) and 25 healthy competitive female athletes (controls), age-matched with pregnant women (34.9 ± 7.9 years), were enrolled. This latter group was included to minimize the effect of age on cardiac remodeling. All women evaluated through anamnestic collection, physical examination, 12 leads ECG, standard echocardiogram and strain analysis. Sphericity (SI) and apical conicity (ACI) indexes were also calculated. RESULTS: Pregnant women showed higher LA dimension (p < 0.001) compared to both groups of athletes. LV e RV GLS were significantly different in pregnant women compared to female athletes (p = 0.02 and 0.03, respectively). RV GLS was also different between pregnant women and controls (p = 0.02). Pregnant women showed significantly higher S' wave compared to female athletes (p = 0.02) but not controls. Parameters of diastolic function were significantly higher in athletes (p = 0.08 for IVRT and p < 0.001 for E/A,). SI was lower in athletes in both diastole (p = 0.01) and systole (p < 0.001), while ACIs was lower in pregnant women (p = 0.04). CONCLUSIONS: Cardiac remodeling of athletes and pregnant women could be similar at first sight but different in LV shape and in GLS, highlighting a profound difference in longitudinal deformation between athletes and pregnant women. This difference seems not to be related with age. These findings suggest that an initial maternal cardiovascular maladaptation could occur in the third trimester of twin pregnancies.

Cardiovascular Hemodynamic Changes After Antenatal Corticosteroids in Growth Restricted and Appropriate for Gestational Age Fetuses.

PURPOSE: To investigate hemodynamic effects after antenatal corticosteroids (ACS) administration in appropriate for gestational age (AGA) and early growth restricted (GR) fetuses by measurement of Doppler cardiovascular function parameters. MATERIALS AND METHODS: Prospective cohort study. AGA and GR singleton pregnancies receiving ACS for fetal lung maturation between 24 + 0-33 + 6 weeks were enrolled. Feto-placental vascular hemodynamics were studied by: umbilical artery (UA) pulsatility index (PI), middle cerebral artery (MCA) PI, renal artery (RenA) PI. Cardiac function was evaluated by ductus venosus (DV) PI and by echocardiographic parameters: E to A wave ratios (E/A) and mitral and tricuspid annular plane systolic excursion (MAPSE and TAPSE) for diastolic function, left and right myocardial performance index (MPI) for overall (diastolic and systolic) function. A single operator performed all the measurements at 3 different time points (E): E0 before or within 4 hours of ACS administration (baseline examination), E1 24-48 hours after the first dose and E2 7 days after the second dose of ACS. The values were expressed as z-scores. Pairwise comparisons with paired t-test were performed to compare measurements before and after exposure to ACS. RESULTS: 25 AGA and 20 GR fetuses (mean gestational age: 31 + 1 and 30 + 6, respectively) were included in the analysis. In the AGA group ACS administration was associated with a significant reduction in UA PI. In the GR fetuses ACS temporarily (E0-E1) restored UA-end diastolic flow (EDF) in 6 of 9 fetuses with A/R-EDF ("Return of EDF phenomenon") and produced a significant increase (worsening) in right MPI (both in E1-E2 and in E0-E2). CONCLUSION: ACS administration is associated with UA vasodilation in both AGA and GR fetuses and with an increase in right MPI in the latter group. This suggests a worsening in cardiac function in GR fetuses.

Intra- and Interobserver Reproducibility of Third Trimester Middle Cerebral Artery Pulsatility Index Measurement: A Prospective Cross-Sectional Study.

BACKGROUND: Middle cerebral artery (MCA) pulsatility index (PI) Doppler in the third trimester of pregnancy is increasingly used. OBJECTIVES: The aim of the study was to investigate intra- and interobserver reproducibility of MCA PI in the third trimester. METHOD: Singleton pregnancies between 30+0 and 40+0 weeks were recruited. MCA Doppler velocimetry measurements were performed prospectively, independently, and blindly. Intra- and interobserver reproducibility was assessed by concordance correlation coefficient (CCC) and intraclass correlation coefficient (ICC); Bland-Altman plots were built, and limits of agreement (LoA) were calculated. Results were interpreted according to the cutoff set by the True Reproducibility of Ultrasound Techniques Review. RESULTS: We enrolled 101 patients. ICCs for intraobserver reproducibility were 0.84 and 0.78 for raw values and percentiles, respectively; CCCs were 0.72 and 0.64. For interobserver reproducibility ICCs were 0.84 and 0.78, CCCs 0.72 and 0.63. According to the chosen criteria, these values show a poor-moderate reproducibility of third trimester MCA PI. Cohen's Kappa coefficients were 0.59 and 0.42, indicating a moderate agreement in discriminating normal and abnormal values. CONCLUSIONS: Intra- and interobserver reproducibility of third trimester MCA PI, as assessed by ICC, CCC, and LoA, is far from satisfactory. This should be taken into account before taking clinical decisions.

Screening for Common Fetal Trisomies in Twin Pregnancies: First-Trimester Combined, Cell-Free DNA, or Both?

OBJECTIVE: To examine the distribution of risks for fetal trisomies after first-trimester combined screening in twins and to investigate different strategies for clinical implementation of cell-free DNA (cfDNA) testing. METHODS: We retrospectively analyzed all twin pregnancies undergoing first-trimester combined screening over a 10 years' period. The population was stratified according to various risk cut-offs, and we examined different screening strategies for implementation of cfDNA testing in terms of impact on invasive testing rate, cfDNA test failure rate, and economic costs. RESULTS: We included 572 twin pregnancies: 480 (83.92%) dichorionic and 92 (16.08%) monochorionic. Performing a first-line combined screening and offering cfDNA testing to the group with a risk between 1 in 10 and 1 in 1,000, would lead to an invasive testing rate of 2.45%, and cfDNA testing would be performed in 22.20% of the population. This strategy would be cost-neutral compared to universal combined screening alone. CONCLUSIONS: First-trimester combined screening results can be used to stratify twin pregnancies into different risk categories and select those that could be offered cfDNA testing. A contingent screening strategy would substantially decrease the need for invasive testing in twins and it would be cost-neutral compared to combined testing alone.

Prediction of pregnancy complications by second-trimester uterine artery Doppler assessment in monochorionic twins.

PURPOSE: We aimed to investigate whether transabdominal uterine artery (UtA) pulsatility index (PI) differs between monochorionic (MC) diamniotic and dichorionic (DC) twins and is useful to predict pregnancy complications. METHODS: A total of 406 uncomplicated twin pregnancies (94 MC, 312 DC) were examined at 22+0 -24+6 weeks and compared for demographic characteristics, mean UtA PI, presence of notch, development of preeclampsia, fetal growth restriction (FGR), placental abruption, intrauterine fetal death and preterm delivery. Mann-Whitney and Fisher's exact tests were performed for continuous and categorical variables, respectively. Sensitivity, specificity, positive predictive value, negative predictive value, and likelihood ratio were calculated for mean PI >95th percentile, presence of notch, and presence of either elevated PI or notch. RESULTS: Median mean UtA PI was 0.68 in DC and 0.75 in MC pregnancies (P = .005). Bilateral notches were observed in one MC pregnancy; unilateral notch was seen in 8 DC (2.6%) and 5 MC diamniotic (5.3%) pregnancies. FGR occurred more frequently in DC twin pregnancies, while intrauterine fetal death in MC. Overall, the sensitivity of the parameters tested was low. Pregnancies with both PI above 95th percentile and presence of notch were all associated with complications, particularly FGR. CONCLUSION: MC pregnancies have higher mean UtA PI. UtA screening in twins shows lower performances than in singletons for the detection of complications.

Impact of bladder filling on uterine artery Doppler variables in the first trimester of pregnancy.

OBJECTIVE: Uterine artery (UtA) Doppler examination is used in the first trimester to assess the risk of developing preeclampsia, with a standardized technique. However, the impact of bladder filling on UtA circulatory impedance in pregnancy has not been previously studied. This study aimed to examine the effect of bladder distension on UtA-pulsatility index (PI) and peak systolic velocity (PSV) in the first trimester of pregnancy. METHODS: The authors conducted a prospective repeated-measure study on pregnant women presenting for first-trimester screening for preeclampsia. Right and left UtA Doppler velocimetry was first measured with a full bladder. Bladder volume was recorded. After the patients had voided their bladder, a repeat Doppler measurement was performed. The UtA PI and PSV were recorded on each side. The Wilcoxon signed-rank test was used to compare UtA variables before and after bladder voiding. RESULTS: The authors enrolled 45 patients. Mean gestational age at exam was 12.1 weeks. When women were studied with full bladder, median UtA-PI was 1.73 (inter-quartile range, [IQR] 1.49, 2.28) on the right and 1.71 (1.46, 2.11) on the left side. After bladder voiding, values were 1.83 (IQR 1.58, 2.20) and 1.78 (1.40, 2.18). The difference was not statistically significant (P = .26 and 0.80). Similarly, no difference was found in UtA-PSV before and after bladder voiding on either side (P = .22 and .70). CONCLUSION: In the first-trimester of pregnancy, bladder distension does not significantly modify uterine artery Doppler variables.

Intraobserver and interobserver reproducibility of third trimester uterine artery pulsatility index.

OBJECTIVES: The primary aim of the study was to investigate intraobserver and interobserver reproducibility of uterine artery (UtA) pulsatility index (PI) in the third trimester of pregnancy. The secondary aim of the study was to examine whether high maternal body mass index (BMI) or gestational age (GA) influence the reliability of this measurement. METHODS: Singleton pregnancies in women with known BMI were recruited between 30+0 and 40+0  weeks. UtA PI Doppler measurements were performed prospectively, independently, and blindly by 2 Fetal Medicine Foundation-accredited operators. Intraobserver and interobserver reproducibility was assessed by concordance correlation coefficient (CCC) and intraclass correlation coefficient (ICC); Bland-Altman plots were built and limits of agreement (LoA) were calculated. The analysis was performed for both raw numbers and percentiles. To estimate the intraoperator and interoperator agreement in defining normal and pathological measurements, the assessments were divided in 2 categories-UtA PI <95th percentile/ ≥95th percentile-and Cohen's kappa coefficients were calculated. Results were interpreted according to the cutoffs reported by the True Reproducibility of Ultrasound Techniques review. Correlation between maternal BMI and GA and accuracy of UtA measurements was studied with Spearman's correlation coefficient. RESULTS: Measurements were available in 101 women. For intraobserver reproducibility, ICCs and CCCs were calculated for raw values and percentiles and were 0.912 and 0.835, and 0.837 and 0.716, respectively. For interobserver reproducibility, ICCs and CCCs were 0.809 and 0.732, and 0.677 and 0.576, respectively. This indicates a poor-moderate reproducibility of third trimester UtA PI. LoA were also wide (from a minimum of -0.30-0.35 to a maximum of -0.53-0.62). Cohen's kappa coefficients were 0.478 and 0.418, showing a moderate intraoperator and interoperator agreement in distinguishing between normal and pathological values. No correlation was found between maternal BMI and GA and reproducibility of the measurements. CONCLUSIONS: Intraobserver and interobserver reproducibility of third trimester UtA PI as assessed by ICC, CCC, and LoA is only moderate-poor. The agreement between operators in defining pathological and normal measurements is moderate.

Ability of cervical length to predict spontaneous preterm delivery in twin pregnancies using the receiver-operating characteristic curve analysis and an a priori cut-off value.

In this retrospective study based on cervical length (CL) measurements between 20 and 24 + 6 weeks, we examined the ability of CL to predict spontaneous preterm birth (SPTB) in 222 twin pregnancies using the receiver-operating curve (ROC) analysis and an a priori cut-off. CL predicted SPTB before 34 weeks. Using the ROC the selected cut-off was 37.5 mm. Positive predictive value (PPV) and negative predictive value (NPV) regarding SPTB before 34 weeks for 37.5 mm were 15.7% and 5.3% respectively. Using the 5th percentile, PPV and NPV regarding SPTB before 34 weeks for 24 mm were 41.7% and 91.4%, respectively. The 5th centile of CL measurements should be employed in clinical practice. CL measurement is an adequate screening tool for SPTB since it has a high NPV. Studies on CL measurement and SPTB should explain which methodology they adopted to obtain a cut-off value and the rationale of their choice.

Application of Umbilical Artery Classification in Complicated Monochorionic Twins.

UNLABELLED: We report our experience on the application of Gratacos' classification in a cohort of monochorionic pregnancies complicated by selective intra-uterine growth retardation based on the Doppler assessment of the umbilical artery. MATERIALS AND METHODS: A retrospective study was conducted on 52 cases of monochorionic twin pregnancies, in which one twin presented an abdominal circumference at or below the 10th percentile for gestational age. Cases were classified into three types according to the umbilical artery Doppler in the smaller twin. Subsequently, patients were divided into two groups: the selective IntraUterine Growth Retardation group and the Twin-to-Twin Transfusion Syndrome (TTTS) group. RESULTS: Of the total 52 cases, 37 were classified as Type I, 12 as Type II, and 3 as Type III cases. In the total group, progressive fetal deterioration of the smaller fetus requiring active management was observed in 66.7% of Type II and 11.1% of Type I cases (p < .001), and in no Type III case. Unexpected fetal death of the smaller twin was observed more frequently in Type III (two cases, 66.7%) than in Types I and II cases (5% and 33%, respectively). Among the 52 cases, TTTS with oligo-polyhydramnios sequence was diagnosed in 10 cases. The remaining 42 cases were therefore defined as selective intra-uterine growth retardation. In the selective IntraUterine Growth Retardation group, results were similar to those obtained for the whole population. CONCLUSIONS: Classification of complicated monochorionic twins based on the umbilical artery Doppler is particularly important for counseling, even when we include TTTS cases, and permits the prediction of clinical evolution and perinatal outcome.

The utility of infection screening in isolated mild ventriculomegaly: an observational retrospective study on 141 fetuses.

OBJECTIVE: The aim of this study was to evaluate the utility of screening for infections in case of isolated mild ventriculomegaly (imVM). METHODS: We retrospectively reviewed 141 cases of imVM. Screening for infections including TORCH, parvovirus B19, and syphilis was carried out in all cases. Follow-up ultrasound, fetal karyotype, and magnetic resonance imaging (MRI) were offered. Postnatal follow-up was obtained from pediatricians, medical records, parents, and postmortem reports in cases of termination of pregnancy or stillbirth. RESULTS: The imVM was bilateral in 70 fetuses and unilateral in 71 and regressed during pregnancy in 66.6% of cases. Associated anomalies were observed in 15 cases with follow-up ultrasound and in seven cases with MRI. Fetal karyotype was abnormal in one fetus (47, XXY). Maternal IgM for parvovirus B19 resulted positive in 4.6% of cases, and one neonate was infected without any fetal/neonatal adverse consequence. Recent cytomegalovirus infection was documented in 4.4% of cases. Only in one case the infection was transmitted to the fetus; after 3 years, the child has good neuromotor development but has severe hearing impairment. CONCLUSIONS: When this diagnosis occurs, tests could be limited to cytomegalovirus and parvovirus B19, whereas a complete TORCH screening is probably not necessary.

Umbilical artery Thrombosis: A case report of prenatal diagnosis and systematic review of the literature.

Umbilical Artery Thrombosis (UAT) is an extremely rare complication of pregnancy strongly associated with severe fetal distress and death. The pathogenesis is still unclear but it is often associated with anatomical cord abnormalities that leads to blood stasis and thrombosis formation. Other possible risk factors are maternal thrombophilia, autoimmune disease, gestational diabetes, hypertension disorders of pregnancy and Rh-alloimmunization. The most common clinical symptom is the reduction of fetal movements. The diagnosis is histopathological, but it can be suspected by clinical and prenatal ultrasound findings. Generally, the first choice therapy is the immediate delivery with cesarean section. This study reported a case of a spontaneous intrauterine UAT in a low-risk pregnancy and a systematic review of the literature on clinical, ultrasound and histopathological findings of UAT, in order to help clinicians in the diagnostic process and management of this rare complication.

Cell-free fetal DNA in maternal circulation after chorionic villous sampling.

OBJECTIVE: This study aims to estimate whether chorionic villous sampling (CVS) causes a significant increase of cell-free fetal DNA (cffDNA) in maternal circulation. METHOD: Fifty pregnant women with singleton pregnancy were recruited prior to CVS. Maternal peripheral blood was collected before and after CVS. A methylation-sensitive restriction enzyme digestion was used to select the placental-derived hypermethylated promoter of the RASSF1A gene in maternal plasma, thus differentiating cffDNA from mother's cell-free DNA (cfDNA), where the RASSF1A gene is normally hypomethylated. Total cfDNA and cffDNA amounts were compared before and after CVS in each patient. Data were compared using the Student t-test. RESULTS: No significant difference before and after CVS was found between the following: (i) total cfDNA concentration in plasma (p = 0.695); (ii) cffDNA concentration in plasma (p = 0.612); and (iii) percentage of fetal DNA in plasma (p = 0.835). After dividing the cases on the basis of the sex of the fetus, maternal age, gestational age, number of pregnancies, position of the placenta, and presence of trisomy of the fetus, no difference in fetal and total DNA concentrations before and after CVS was observed. CONCLUSION: The CVS does not seem to significantly disrupt the maternal-placental interface, as no significant increase of cffDNA in maternal plasma following CVS was observed.

Invasive prenatal diagnosis in the era of cell-free fetal DNA: experience at a single center.

BACKGROUND: We aimed to assess procedure-related risk of fetal loss associated with amniocentesis and chorionic villus sampling and compare amniocentesis and chorionic villus sampling with cell-free fetal DNA in identifying chromosomal abnormalities. METHODS: A retrospective observational study on 4712 women with singleton pregnancy who underwent invasive prenatal diagnosis, from January 2010 to December 2019. Postprocedural miscarriage rate (before 24+0 weeks gestation) was determined for the whole population and for the group of women aged ≥35 years who underwent the procedure for the sole maternal age. RESULTS: Miscarriage rate following amniocentesis and chorionic villus sampling were 0.50% and 1.25%, respectively. In our population of women undergoing invasive procedure for advanced maternal age cell-free fetal DNA would have identified only the 49 cases of trisomy 21, 13 and 18, whereas the other 21 more subtle chromosomal anomalies, diagnosed by amniocentesis and chorionic villus sampling, would have been missed. CONCLUSIONS: Patients who opt for cell-free fetal DNA test should be informed of the screening nature of the test and the possibility of false positive results. Invasive prenatal testing has probably lower risks than previously reported and has unquestionable advantages such as the certainty of diagnosis and the ability to detect a higher number of chromosomal abnormalities, when compared with cell-free fetal DNA.

Increased nuchal translucency with normal karyotype and genomic microarray analysis: A multicenter observational study.

OBJECTIVE: To define the residual risk of morbidity-related outcome in fetuses with nuchal translucency (NT) of 3.5 mm or more after normal genetic testing and mid-trimester anomaly scan. METHODS: A total of 114 fetuses with isolated NT of 3.5 mm or more, normal karyotype, and array-based comparative genomic hybridization (array-CGH) were included and divided in three groups: NT 3.5-4.5 mm, NT 4.5-6 mm, and NT greater than 6 mm. RASopathy testing and ultrasound follow up were performed in all fetuses. We evaluated: (1) incidence of genetic disorders; (2) incidence of structural abnormalities; (3) pregnancy outcome; (4) long-term pediatric outcome before (point 1) and after (point 2) a normal RASopathy testing and mid-trimester anomaly scan. RESULTS: After normal karyotype and array-CGH the residual risk of morbidity-related outcome was 24.64% for NT 3.5-4.5 mm, 25% for NT 4.5-6 mm and 76.47% for NT more than 6 mm. After a normal RASopathy testing and mid-trimester anomaly scan the residual risks decreased to 7.14%, 8.69%, and 33.3% in the three groups, respectively. CONCLUSION: In fetuses with an NT of 3.5 mm or more and both normal karyotype and array-CGH, the rate of morbidity-related outcome depends on NT size. A normal RASopathy testing and mid-trimester ultrasound are reassuring but the residual risk of morbidity-related outcome is increased compared with the general population, particularly if NT is greater than 6 mm.

Elevated nuchal translucency, is it time to discuss the cut off?

OBJECTIVE: We aimed to evaluate pregnancy and postnatal outcomes of fetuses with NT between 95th and 99th percentile at first trimester and whether they could benefit from further investigations rather that routine scans. METHODS: Multicenter retrospective observational study which involved all cases with NT between 95th and 99th percentile from January 2015 to December 2020. Unfavorable outcome was considered as: miscarriage or intrauterine fetal death (IUFD), chromosomal abnormality/genetic syndrome, major malformation or neurodevelopmental delay. Study population outcomes were compared with general population. RESULTS: The rate of unfavorable outcome was 25.44% (167 out of 667). We reported: 6 (0.90%) second trimester miscarriage or IUFD, 90 (13.49%) chromosomal abnormalities/genetic syndromes, 57 (8.55%) major malformations, 13 (1.95%) cases of neurodevelopmental delay. The incidence of chromosomal abnormalities/genetic syndromes and major malformations were significantly higher (OR 6.99 (IC 95% 4.33-11.28), P < 0.001 and OR 17.77 (IC 95%7.22-43.75), P < 0.001 respectively) compared to the general population. The incidence of neurodevelopmental delay was not increased (OR of 0.64 CI 95% 0.33-1.24 P = 0.185). CONCLUSIONS: Fetuses with NT between 95th and 99th percentile have an increased risk of pregnancy and postnatal adverse outcomes. According to our data it is reasonable to consider a lower cut of NT (NT > 95th percentile) for offering further investigations such as detailed ultrasound scan, fetal echocardiography and counseling where the option of performing fetal karyotype and CGH array should be discussed.

Neonatal Outcomes of Term Infants Born with Meconium-Stained Amniotic Fluid.

Background Meconium-stained amniotic fluid (MSAF) is considered an alarming sign of possible fetal compromise and it has recently been reported that neonatal outcome correlates with the degree of meconium thickness. Methods We retrospectively studied 400 term infants allocated in clear amniotic fluid and grade 1, 2, and 3 MSAF groups on the basis of color and thickness of AF. Multivariable logistic regression analysis was performed to evaluate the potential independent effect of delivery with MSAF of different severity on the risk of a composite adverse neonatal outcome. Results We found that delivery with grade 2 (OR 16.82, 95% Cl 2.12-33.52; p = 0.008) and 3 (OR 33.79, 95% Cl 4.24-69.33; p < 0.001) MSAF is independently correlated with the risk of adverse neonatal outcome, such as the occurrence of at least one of the following: need of resuscitation in the delivery room, blood cord pH < 7.100, occurrence of meconium aspiration syndrome (MAS), persistent pulmonary hypertension (PPH), transient tachypnea of the newborn (TTN), acute respiratory distress syndrome (ARDS), hypoxic-ischemic encephalopathy (HIE), and sepsis. Conclusions There is a positive correlation between the severity of amniotic fluid meconium staining and thickness and the outcomes of term infants. Therefore, the evaluation and grading of MSAF during labor is useful in order to plan for the presence of a neonatologist at delivery for immediate and proper neonatal care.