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Introduction: The incidence of fetal goiters is reported to be around 1 per 40,000 births. The risk of complications is first of all obstetric, directly related to goiter size, but it may also affect longer term fetal and child development, depending on whether the goiter is due to hypo- or hyperthyroidism. Management is multidisciplinary, but not yet consensual and not always optimal by either endocrinologists or obstetricians.Objectives: The principal objective of this retrospective study was to analyze the data that enabled the physicians to assess whether the goiter was hypo- or hyperthyroid and then to analyze the obstetric practices used in the Pays de Loire network to describe in detail the tools used to diagnose and characterize the goiters and the management chosen in these cases. The secondary objectives are to assess, in our small cohort, the effectiveness of the in utero treatments provided, based on the examination of the children at birth and their outcome at 6 months of life, and to suggest a strategy for monitoring these women at risk that takes current guidelines into consideration.Materials and methods: This multicenter retrospective study covers a 6-year period and focused on the prenatal diagnosis centers (CPDPN) of the Pays de Loire perinatal network: in Nantes, Angers, and Le Mans. The network is responsible for around 42,000 births a year, and the study included 17 women, for a prevalence of 1 per 15,000 births.Results: Ten of the 17 fetuses had a hypothyroid goiter, 4 a hyperthyroid goiter, and 3 normal thyroid findings on fetal blood sample (FBS). For four women, these goiters were secondary to fetal dyshormonogenesis, for 9 more to Graves disease with TSH receptor antibodies (TRAb), and for four women to thyrotoxicosis at the start of pregnancy, managed by synthetic antithyroid drugs. Two newborns had severe complications associated with maternal transmission of Graves disease (TRAb positive at birth): one with exophthalmos and one with neonatal tachycardia. The other 14 had normal psychomotor development at 6 months, based on a clinical examination by a pediatric endocrinologist; only one child was lost to follow-up.Conclusion: Together, ultrasound and multidisciplinary expertise (of an endocrinologist and an obstetrician experienced with this disease) remain the best means for avoiding, or otherwise for accurately characterizing fetal goiter. An ultrasound diagnostic score, of the type proposed by Luton et al. in 2009, may make it possible to homogenize practices and thus to defer or delay the - currently too common - performance of invasive FBS procedures, which must remain rare in this management to limit comorbidities. A threshold TRAb value (>5 IU/l) makes it possible to define this group of women as at risk of fetal and neonatal hyperthyroidism and thus requiring close monitoring. The value of prenatal intra-amniotic thyroxine treatment for hypothyroid goiters (including dyshormonogenesis) remains to be demonstrated. [ABSTRACT FROM AUTHOR]

Background: Pulse oximetry (POS) has been proposed as a screening tool for CCHD in newborn. The aim was to identify the effect of POS on the rate of diagnosis after discharge and survival to one year in cases with CCHD.Material and Methods: All cases of CCHD from three tertiary level hospitals in the Northern region of UK between 1st January 2001 and 31st December 2011 were identified from the Northern Congenital Abnormality Survey (NorCAS). A retrospective cohort study comparing screened and unscreened population for CCHD was undertaken. The main outcome was post discharge diagnosis rate and mortality at one year between the cohorts.Results: Total number of births during the 11 years was 138,176. A total of 147 cases had CCHD, 59 diagnosed postnatally. Five and eight cases were diagnosed after discharge in the screened and the unscreened cohort respectively. The rate of post-discharge diagnosis in the screened population was 7/100,000 and 13/100,000 in the unscreened population with a relative risk of 0.52 (CI 0.2 to 1.42). Mortality at one year in postnatally diagnosed cases was five and one in the screened and unscreened cohorts respectively.Conclusion: With good antenatal detection rates, POS did not have a statistically significant impact in identifying cases of CCHD, when added to the present screening process of antenatal ultrasound and postnatal examination. The same conclusion cannot be made for regions with lower antenatal detection rates; perhaps it may be more appropriate to consider pulse oximetry as a screening tool for hypoxemia of any cause.Brief rationaleThis is the first study evaluating the contemporaneous post-discharge diagnosis rate between screened and unscreened populations. The rate of post-discharge diagnosis was 7/100,000 in the screened and 13/100,000 in the unscreened populations. However, this did not achieve statistical significance and in a setting with high antenatal diagnosis a very large study would be required to demonstrate efficacy of POS. [ABSTRACT FROM AUTHOR]

Objective: To explore the clinical effect of noninvasive prenatal screening (NIPS) for the women at advanced maternal age (AMA) and discuss the relationship between women's age and NIPS effect.Methods: Fourteen thousand thirty-five women at AMA who accepted NIPS from two prenatal diagnosis centers were recruited for this study. NIPS were checked by Illumina Next CN 500. All the AMA women received prenatal genetic counseling, selected prenatal diagnosis and different clinical treatments according to the results of NIPS.Results: A total of 114 cases (0.81%) got the NIPS-positive results of T21/T18/T13. One hundred four cases of them accepted prenatal diagnosis and 87 cases were proved as true positive. The sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were 100, 99.88, 92.55 and 100%, respectively. Seventy-four women (0.53%) showed NIPS-positive results of sex chromosomal aneuploidies (SCAs). After informed consent, 46 women (62.2%) accepted fetus karyotype analysis. Nineteen cases were identified as true positive results, while 27 cases were false positive results. The PPV for SCAs in AMA women was 41.3%. The PPV of T21/T18/T13 in AMA women over 40 was 100%, while it was 81.91% for the women whose age was 35 ∼ 40 years old. There was also rising trend in PPV of fetal sex chromosome with the increased age (62.50 versus 36.84%).Conclusions: NIPS is a good choice for AMA pregnant women. It can not only achieve satisfactory clinical effect, but also greatly reduce invasive prenatal diagnosis. We will get better effect of NIPS by further managing AMA women stratified by their age. [ABSTRACT FROM AUTHOR]

Purpose: To provide functional information on the human placenta, including perfusion, and diffusion, with no contrast agent injection, and to study correlations between intravoxel incoherent motion (IVIM) placental parameters and fetal growth.Materials and Methods: MRI was performed in women undergoing legal termination of pregnancy at 17-34 weeks, including a 4-b-value and 11-b-value DW sequences. The apparent diffusion coefficient (ADC), the restricted diffusion coefficient (D), the pseudoperfusion coefficient (D*), and the perfusion fraction (f) were calculated. Their relationships with gestational age, Z-scores for fetal and placental weight were evaluated by means of regression analysis. Logistic regression analysis was used to assess the ability of IVIM parameters to predict/detect intrauterine growth retardation (SGA).Results: Fifty-five pregnant women, including nine cases of SGA (16%), were included in the study. The ADC (n = 55) showed a quadratic correlation with gestational age (p < .001) and a linear correlation with the fetal weight Z-score (p = .02). Mean ADC values were significantly different between normally growing and SGA fetuses (2.37 ± 0.25 versus 2.29 ± 0.33 10-3.mm2.s-1, p=.048). The perfusion fraction f (n = 23) showed a quadratic correlation with gestational age (p = .017) and a linear correlation with the fetal weight Z - score (p = .008). Mean f values differed significantly between normally growing and SGA fetuses (42.55 ± 9.30% versus 27.94 ± 8.76%, p = .002). The receiver operating characteristics (ROC) curve for f to predict SGA was produced (area under the ROC curve = 0.9).Conclusions: The observed association between f and fetal weight suggests that fMRI could be suitable for studying placental insufficiency and for identifying risk of SGA. [ABSTRACT FROM AUTHOR]

Purpose: We compared outcome of neonates with prenatal and post-natal diagnosis of congenital heart disease presenting in our paediatric heart centre between March 2005 and May 2015 who underwent an emergent intervention within 48 h post-partum.Materials and Methods: In 52/111 (46.8%) with emergent intervention, congenital heart disease was diagnosed prenatally, in 59/111 (53.2%) with no specialized foetal echocardiography, diagnosis was made post-natally. In 98/111 (88.2%), 30-day outcome was known.Results: Regarding the entire cohort, 30-day survival did not differ significantly in prenatal and post-natal diagnosis group (71.2 vs. 72.9%; p > .1). Infants with prenatal diagnosis were more likely to be born by caesarean section (59.6% vs. 33.9%, p = .01). Those with post-natal diagnosis had a higher need for intubation (32.7% vs. 52.5%; p < .05). Subgroup analysis of HLH/HLHC (hypoplastic left heart/hypoplastic left heart complex) patients revealed higher number of deaths within 30 days of life in the post-natal diagnosis group, although the difference did not reach statistical significance (5/7, 71.4% vs. 5/20, 25.0%; p = .075).Conclusion: For newborns who require emergent neonatal cardiac procedures, our results point towards a lower death rate after prenatal diagnosis of HLH/HLHC. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the clinical course of fetal tachycardia and analyze the impact of intrauterine treatment on the postnatal treatment and patient outcomes.Study Design: This was a retrospective review of cases of fetal tachycardia that occurred from 2004 to 2006. Data were collected from questionnaires that were sent to all 750 secondary or tertiary perinatal care centers in Japan.Results: Eighty-two cases (14 with fetal hydrops) were analyzed (supraventricular tachycardia [SVT], n = 52; atrial flutter [AFL], n = 23; and ventricular tachycardia, n = 7). The overall mortality was 3.7%. Intrauterine treatment was performed for 41 fetuses (50.0%). Digoxin, flecainide and sotalol were mainly used for SVT and AFL. Fetal tachycardia resolved in 90.0% (27/30) of the cases without fetal hydrops and 90.9% (10/11) of the cases with fetal hydrops. Intrauterine treatment significantly reduced the incidence of cesarean delivery (29.3 vs. 70.7%, p < .01), preterm birth (12.2 vs. 41.5%, p = .02) and neonatal arrhythmias (48.8 vs. 78.0%, p = .01) in comparison to untreated fetuses.Conclusions: This nationwide survey revealed that intrauterine treatment was performed for approximately half of the cases of fetal tachycardia and was associated with lower rates of cesarean delivery, premature birth and neonatal arrhythmias in comparison to untreated fetuses. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the accuracy of prenatal neurosonography in diagnosing underlying causes of fetal ventriculomegaly, posterior fossa anomalies and microcephaly before 24 weeks' gestational age (GA) and to study the accuracy of prenatal counseling on postnatal prognosis.Methods: A retrospective cohort study based on 146 cases of these fetal brain anomalies before 24 weeks' GA. Counseling on prognosis was compared with postnatal outcome. Data on genetic testing was analyzed.Results: Out of 146 cases, 135 (92%) were diagnosed correctly before 24 weeks' GA. Accuracy was 98% (97/99) in cases with multiple anomalies and 81% (38/47) in cases with an isolated abnormality. Counseling on prognosis was correct in 143 out of 146 cases (98%). Prenatal genetic diagnostics detected an anomaly in 51/113 (45%) of cases. In 14/62 (23%) cases prenatal karyotyping was normal, but postnatal array-CGH detected a pathogenic anomaly.Conclusions: Despite the challenges of early gestation, accuracy in diagnosing and counseling fetal brain anomalies before 24 weeks' GA was high. Prenatal genetic testing is a valuable diagnostic tool and should be offered to all women with fetal brain anomalies. Considering the many different types of anomalies and diverse etiologies, a multidisciplinary approach is essential for counseling on postnatal outcome. [ABSTRACT FROM AUTHOR]

Objective: We examined whether first trimester aneuploidy and pre-eclampsia screening markers predict gestational diabetes mellitus (GDM) in a large multi-ethnic cohort and the influence of local population characteristics on markers.Methods: Clinical and first trimester markers (mean arterial pressure (MAP), uterine artery pulsatility index (UtA PI), pregnancy associated plasma protein A (PAPP-A), free-β human chorionic gonadotropin (free-hCGβ)) were measured in a case-control study of 980 women (248 with GDM, 732 controls) at 11 to 13 + 6 weeks' gestation. Clinical parameters, MAP-, UtA PI-, PAPP-A-, and free-hCGβ-multiples-of-the-median (MoM) were compared between GDM and controls; stratified by ethnicity, parity, and GDM diagnosis <24 versus ≥24 weeks' gestation. GDM model screening performance was evaluated using AUROC.Results: PAPP-A- and UtA PI-MoM were significantly lower in GDM versus controls (median ((IQR) PAPP-A-MoM 0.81 (0.58-1.20) versus 1.00 (0.70-1.46); UtA PI-MoM 1.01 (0.82-1.21) versus 1.05 (0.84-1.29); p < .05). Previous GDM, family history of diabetes, south/east Asian ethnicity, parity, BMI, MAP, UtA PI, and PAPP-A were significant predictors in multivariate analysis (p < .05). The AUC for a model based on clinical parameters was 0.88 (95%CI 0.85-0.92), increasing to 0.90 (95%CI 0.87-0.92) with first trimester markers combined. The combined model best predicted GDM <24 weeks' gestation (AUC 0.96 (95%CI 0.94-0.98)).Conclusions: Addition of aneuploidy and pre-eclampsia markers is cost-effective and enhances early GDM detection, accurately identifying early GDM, a high-risk cohort requiring early detection, and intervention. Ethnicity and parity modified marker association with GDM, suggesting differences in pathophysiology and vascular risk. [ABSTRACT FROM AUTHOR]

Purpose: We present the results of the systematic application of the first trimester combined test for aneuploidies, in a Romanian center.Methods: Since October 2009, in Filantropia Hospital in Bucharest, we have systematically been using the FMF (Fetal Medicine Foundation) combined first trimester test to screen for common aneuploidies at 11 to 13 + 6 weeks of gestation. We assessed the crown to rump length (CRL), nuchal translucency, fetal heart rate as well as PAPP-A, and free β-hCG in maternal serum. We evaluated additional first trimester ultrasound markers in most of the cases. The individual risk for aneuploidies was calculated using the FMF algorithm.Results: Pregnancy outcome is known for 6030 euploid fetuses and 42 aneuploid fetuses from our screening population. The detection rate for trisomy 21 of the combined test was 87.5% for a screen positive rate of 1.96%. All of the trisomy 18 and trisomy 13 cases were detected prenatally. Some of the trisomy 18 cases proved not to be symptomatic in the first trimester.Conclusions: Our results are similar to those of the main studies on the FMF method of first trimester screening for aneuploidies. Our numbers are small because of limited availability of the very specialized resources involved. [ABSTRACT FROM AUTHOR]

Background: This study aims to assess the diagnostic and prognostic value of Swansea criteria in diagnosing acute fatty liver of pregnancy (AFLP) in a Chinese population.Methods: A retrospective study was conducted on 52 Chinese women diagnosed with AFLP. All selected cases were reassessed using the Swansea criteria with special focus on the noninvasive criteria, since performing a liver biopsy for this indication is rare in a Chinese population.Results: Ninety point four percent of patients fulfilled five or more of the Swansea criteria. Thirty-one cases were positive for six or more Swansea criteria, but there were no significance differences between patients when using a cutoff criteria <6 or >6. When patients were positive for less than seven criteria, frequency of stillbirth, continuous blood purification (CBP) treatment, hysterectomy, and postpartum hemorrhage were not increased. However, patients who were positive for seven or more criteria had a significantly higher risk of stillbirth and a higher rate of CBP treatment (p < 0.05). Areas under the receiver operating characteristic (ROC) curve of postpartum hemorrhage was 0.670, which reached a statistical significance (p = 0.040). We observed a significantly elevated postpartum hemorrhage along with positivity of the Swansea criteria (p = 0.040).Conclusions: Swansea criteria without liver biopsy are good screening tools for AFLP diagnosis, and may be useful for assessing disease severity. [ABSTRACT FROM AUTHOR]

Objective: We aimed to determine the potential value of maternal serum levels of acute phase reactants in the prediction of preterm delivery in women with threatened preterm labor (TPL).Methods: Ninety-one pregnant women diagnosed with TPL and 83 healthy pregnant women as a control group were included in this prospective controlled study. All the pregnant women were followed until delivery and obstetric data and the serum levels of acute phase reactants were recorded for each participant. The study group was further divided into two groups according to the gestational age at delivery, which include women delivering prematurely and the ones who gave birth at term.Results: Serum albumin levels were significantly lower and mean serum ferritin levels were significantly higher in the study groups when compared the control group.Conclusion: Although an association between decreased serum albumin level and TPL, also between increased serum ferritin levels and preterm birth and low birth weight were demonstrated, more extensive studies are needed to clarify the potential use of the acute phase reactants in the prediction of preterm birth. [ABSTRACT FROM AUTHOR]

Objective: To validate the prediction model for successful vaginal birth after cesarean delivery (VBAC) based on variables easily obtainable at the first antenatal visit, in a Spanish population.Methods: Retrospective observational study. Women with a single live fetus in cephalic presentation with one previous low-transverse CD who underwent trial of labor after cesarean delivery (TOLAC) at ≥37 gestational weeks between January 2011 and December 2015 were identified in the hospital's information system. Their antenatal medical records and delivery summary reports were reviewed and individual probabilities of successful VBAC were calculated, according to a previously published model. These probabilities were categorized into deciles. For calibration, each decile of predicted probabilities was compared to the observed rates. To assess the accuracy of the prediction model, receiver operating characteristic curve was constructed and the area under the curve (AUC) was calculated.Results: In total, 630 women who underwent TOLAC had all required information and were included in the study. Among them, 450 (71.4%) women had successful VBAC. The AUC was 0.70 (95% confidence interval 0.66-0.74).Conclusion: Prediction ability of the validated model was in agreement with the original study. [ABSTRACT FROM AUTHOR]

Objective: To compare the unit cost of noninvasive prenatal testing (cell-free DNA [cfDNA]) in an urban population who did not have first-trimester screening as a primary screening tool for trisomy 21 (T21) to multiple marker screening (QUAD).Methods: Retrospective study of all QUAD screens performed at a single center from 2013 to 2015. All QUAD screen performed between 15 and 21 weeks were included in the study. Exclusion criteria were patients without anatomy scans or delivery information. Utilizing our population characteristics, we extrapolated to determine the cost of QUAD with additional screening (cfDNA and amniocentesis) versus QUAD for this entire population.Results: 590 QUAD screens were performed during the study time period. After ultrasound correction of gestational age, 5.9% (35) were screen positive. Within this cohort, 51.4% (18) patients underwent cfDNA and 11.4% (4) had invasive testing. No cases of T21 were identified. It would be cost equivalent to offer cfDNA as a primary screen for T21 at less than $360.54 to the entire population regardless of a priori risk status. Invasive procedures were reduced by 55.4%.Conclusions: cfDNA is an acceptable option for second-trimester screening and as a primary screen eliminates the need for multi-step screening preserving valuable healthcare resources. [ABSTRACT FROM AUTHOR]

Objective: The study aims to evaluate the accuracy of combining uterine artery Doppler (UAD), PlGF and sFlt-1 in the first trimester for preeclampsia screening.Methods: Prospectively enrolled women at high risk of preeclampsia were included. Transabdominal UAD measurements and serum biomarkers were collected between 11 and 13 weeks of gestation in three university hospitals and in one general hospital. The main outcome was preeclampsia. UAD parameters and biomarker levels among women with preeclampsia were compared with those of women in the unaffected group in univariate and multivariate analyses.Results: Out of 226 women included from May 2007 to January 2011, 27 (11.9%) women developed preeclampsia. Among women affected by preeclampsia, the lowest pulsatility index was higher (p = 0.02), bilateral notching was more frequent (p = 0.01), and PlGF was lower (p < 0.001). No significant differences were observed for other indicators. The multivariate model, adjusted for laboratory and sonographic indicators, had an area under the curve (AUC) estimated at 0.76, which was not significantly different from the AUC of the univariate model adjusted only for PlGF (p = 0.7).Conclusion: In a high-risk population, PlGF in the first trimester is useful for predicting preeclampsia, but neither sFlt-1 nor any UAD indices improved the prediction of preeclampsia. [ABSTRACT FROM AUTHOR]

Objective: This study is aimed to probe the usefulness of refrigerated aliquots of amniotic fluid to be used for fluorescence in situ hybridization (FISH) in order to perform an accurate prenatal diagnosis avoiding the risk related to an additional amniocentesis procedure and the psychological stress to the pregnant woman and her family.Methods: Non-cultured amniotic fluid (AF) samples were analyzed by FISH. Such samples were divided into two groups. The first one included fresh collected AF (FCAF, N = 30). The second one included refrigerated samples of AF (RSAF, N = 12) to corroborate uncertain chromosome aberration identification obtained by conventional methods. Sample refrigeration did not exceed 18 days.Results: No differences were found between groups. In the RSAF group, three cases of chromosomal mosaicismo and seven cases of pseudomosaicism were corroborated. No alteration adjudicated to aberrant chromosomal line presence was found in born children according to genetic specialists' criteria. In the two remaining cases, applied procedure allowed elucidating fetal sex in one case and the origin of a marker chromosome in the other.Conclusions: Amniocytes obtained from RAFS are a useful biological material to be assayed by FISH, achieving an accurate prenatal diagnosis and avoiding an additional amniocentesis. [ABSTRACT FROM AUTHOR]

Objective: Some of the antenatally diagnosed fetal pathologies are unlikely to get compatible with life. Still some women choose to continue with pregnancy. Subsequently, perinatal palliative care (PPC) has become a constructive demarche in such situations. Our study, based on a multicentric survey, reports some cases of fetal pathologies considered as lethal according to perinatal professionals and reveals the decisional process in each case.Methods: We sent by emails a questionnaire to 434 maternal-fetal medicine specialists and fetal care pediatric specialists at 48 multidisciplinary centers for prenatal diagnosis.Results: The participation rate was 49.3%. In total, 61 obstetric-gynecologists and 68 neonatologists completed the survey. The results showed that 35.4% of the pregnant women asked for the continuation of pregnancy and 24.7% asked for the termination of pregnancy. More than half of professionals (52.9%) took the initiative of informing women about the options for birth support (including PPC), while 32.7% of obstetric gynecologists did not take this initiative versus 10.2% of neonatologists (p  < 0.01).Conclusion: This study demonstrates the absolute need to provide PPC training for professionals and to standardize its practices. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to validate noninvasive prenatal testing (NIPT) for fetal aneuploidies by whole-genome massively parallel sequencing (MPS).Methods: MPS was performed on cell-free DNA (cfDNA) isolated from maternal plasma in two groups: a first set of 186 euploid samples and a second set of 195 samples enriched of aneuploid cases (n = 69); digital PCR for fetal fraction (FF) assessment was performed on 178/381 samples. Cases with <10 × 106 reads (n = 54) were excluded for downstream data analysis. Follow-up data (invasive testing results or neonatal information) were available for all samples. Performances in terms of specificity/sensitivity and Z-score distributions were evaluated.Results: All positive samples for trisomy 21 (T21) (n = 43), trisomy 18 (T18) (n = 6) and trisomy 13 (T13) (n = 7) were correctly identified (sensitivity: 99.9%); 5 false positive results were reported: 3 for T21 (specificity = 98.9%) and 2 for T13 (specificity = 99.4%). Besides FF, total cfDNA concentration seems another important parameter for MPS, since it influences the number of reads.Conclusions: The overall test accuracy allowed us introducing NIPT for T21, T18 and T13 as a clinical service for pregnant women after 10 + 4 weeks of gestation. Sex chromosome aneuploidy assessment needs further validation due to the limited number of aneuploid cases in this study. [ABSTRACT FROM AUTHOR]

Objective: To evaluate whether fetal brain lateral ventricle measurements differ between ultrasound (US) and MRI.Methods: We evaluated 115 fetuses with US and MRI performed within 24 h of each other. Ventricular measurements were performed in the axial plane at the level of the atria for both modalities and the right and left ventricles were evaluated separately. We compared mean measurements; mean differences, association with gestational age (GA), association with the presence of a brain anomaly, and agreement between MRI and US.Results: The LV and RV were measured in 65 and 64 cases, respectively. LV and RV size estimates were significantly greater when measured by MRI compared with US (p < 0.001). Therefore, LV and RV were 0.87 mm and 0.89 mm larger in MRI versus US, respectively. Neither GA at measurement or presence/absence of a brain anomaly was significantly associated with differences in measurements. When comparing the agreement between the US and MRI measurements for ventriculomegaly; the kappa level of agreement for the LV and RV was 0.74 for each.Conclusion: MRI measurements of ventricles are significantly larger than the measurements by US by ∼1 mm. There is a good level of agreement when categorizing by normal, mild and severe ventriculomegaly. [ABSTRACT FROM AUTHOR]

Objective: To compare neonatal growth outcomes determined by birth weight (BW), placental assessment (Plac Assess) and individualized growth assessment (IGA).Methods: This retrospective analysis was carried out in 45 selected pregnancies at risk for fetal growth restriction. Serial fetal biometry was carried out in the 2nd and 3rd trimester. First and second trimester placental biomarkers, 2nd trimester uterine artery (Ut A) velocimetry and postnatal placental pathology were evaluated as indicators of placental insufficiency. At delivery, weight (WT), head circumference (HC) and crown-heel length (CHL) were measured. BWs were categorized as large-for-gestational-age (LGA), appropriate-for-gestational-age (AGA) and small-for-gestational age (SGA) (<10th, 10th-90th and >90th percentiles). In these categories, neonatal growth outcomes were classified as growth restricted (GR), normal (NORMAL) or macrosomic (MACRO) based on BW plus Plac Assess (Ut A velocimetry, biomarkers, pathology) or IGA [growth potential realization index profile (WT, HC and CHL)].Results: There were 6 LGA, 14 AGA and 25 SGA neonates in this sample. All 14 AGA neonates were considered NORMAL by both IGA and BW + Plac Assess. All six LGA neonates were classified as MACRO by BW + Plac Assess but only four by IGA (the remaining two were NORMAL and high NORMAL). The 25 SGA cases could be divided into five subgroups based on IGA and BW + Plac Assess. The largest subgroup (56%) was GR and the next largest (24%) was NORMAL by both classification methods. In the remaining 20%, there was some evidence of GR but IGA and BW + Plac Assess were not in complete agreement.Conclusions: Agreement was good for all three methods in the LGA and AGA groups. The SGA group was heterogeneous but agreement between IGA and BW + Plac Assess was 89%. These results, using more sophisticated growth assessment methods, confirm placental insufficiency as a primary cause of growth restriction. Most normal and GR SGA neonates can be identified with conventional anatomical measurements if IGA is used. [ABSTRACT FROM AUTHOR]

Objectives: Gastroschisis is a common abdominal wall defect. While most neonates have an excellent prognosis, complications do occur. Several risk factors for adverse neonatal outcomes have been identified, however, the impact of intrauterine growth restriction (IUGR) and oligohydramnios on neonatal morbidity and mortality has not been fully elucidated.Methods: In this retrospective cohort study of pregnancies complicated by gastroschisis at two tertiary-care centers during an eight-year period, maternal, fetal and neonatal data were analyzed to estimate the impact of IUGR and oligohydramnios upon neonatal outcomes. Adverse outcomes were defined as five-minute Apgar score <7, umbilical cord pH <7.12, neonatal sepsis, prolonged ventilator support, prolonged total parenteral nutrition, extended NICU stay, death and a composite of the above.Results: Among the 179 cases of gastroschisis, there were no differences in maternal demographics between cases with and without IUGR or oligohydramnios. Fetuses with oligohydramnios demonstrated a trend toward lower birthweight (p = 0.06). Small for gestational age infants showed a trend toward prolonged ventilator support (p = 0.06). Oligohydramnios and IUGR were otherwise not associated with adverse neonatal outcomes.Conclusions: While risk factors for adverse neonatal outcomes have been identified in pregnancies complicated by gastroschisis, IUGR and oligohydramnios do not appear to be among them. [ABSTRACT FROM AUTHOR]

Objective: To evaluate prenatal predictors of postnatal survival in fetuses with agenesis of ductus venosus (ADV).Methods: This retrospective study reviewed our experience and the literature between 1991 and 2015. Prenatal findings were evaluated and perinatal morbidity and mortality was documented.Results: A total of 259 cases were included in the present analysis from our centers and 49 published studies (15 patients from our retrospective cohort review and 244 from literature review). The intrahepatic and extrahepatic shunts were present in 32.0% (73/226) and 67.7% (153/226), respectively. Cardiomegaly (n = 64/259, 24.7%), hydrops (n = 31/259, 12.0%) and amniotic fluid abnormalities (n = 22/259, 8.5%) were among the most frequent initial ultrasound findings. One hundred and forty-seven fetuses (56.8%) had ADV without structural anomalies while 112 (43.2%) had associated anomalies (cardiac anomalies (n = 66), extra-cardiac anomalies (n = 19) and both cardiac and extra-cardiac anomalies (n = 27)). The mean gestational age (GA) at ultrasound diagnosis was 22.9 ± 6.9 weeks while the mean GA at delivery was 34 ± 7.5 weeks. The overall neonatal survival was 57.1% (n = 148/259). The following factors were associated with survival: advanced maternal age, earlier GA at diagnosis, prematurity, increased nuchal translucency, pericardial effusion, associated cardiac defects (especially AVSD), chromosomal abnormalities, hydrops, hygroma and limb anomalies.Conclusion: Fetal hydrops, the presence of associated congenital anomalies and premature delivery are associated with poor prognosis in fetuses with ADV. [ABSTRACT FROM AUTHOR]

Objective: In a previous randomized trial that compared monitoring uterine contractions with an intrauterine pressure catheter (IUPC) versus external monitoring, we demonstrated that use of an IUPC did not improve the outcome of labor. To provide insight in the lack of a positive effect, we evaluated level of IUP in Montevideo units (MU) in correlation with dysfunctional labor and adverse neonatal outcome.Study Design: Here, we present two secondary analyses on the 503 women who had IUP measured in the trial. Firstly, we assessed labor outcome in relation to the highest IUP measured at any time during labor. Secondly, we assessed labor outcome to the IUP registered at the last vaginal examination during the first stage of labor in two study groups (above and below 200 MU).Results: Women with lower IUP were statistically significant older, had pregnancies with a longer gestational age, longer labors and neonates with a higher birth weight. The risk of a cesarean section was higher in women who had low IUP during labor (Likelihood Ratio 1.6 for IUP < 100 MU, 0.41 for IUP > 300 MU). IUP was not associated with neonatal outcome.Conclusion: IUP is associated with mode of delivery. However, use of internal tocodynamometry does not improve birth outcomes. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the independent association of fetal pulmonary response and prematurity to postnatal outcomes after fetal tracheal occlusion for congenital diaphragmatic hernia.Methods: Fetal pulmonary response, prematurity (<37 weeks at delivery) and extreme prematurity (<32 weeks at delivery) were evaluated and compared between survivors and non-survivors at 6 months of life. Multivariable analysis was conducted with generalized linear mixed models for variables significantly associated with survival in univariate analysis.Results: Eighty-four infants were included, of whom 40 survived (47.6%) and 44 died (52.4%). Univariate analysis demonstrated that survival was associated with greater lung response (p=0.006), and the absence of extreme preterm delivery (p=0.044). In multivariable analysis, greater pulmonary response after FETO was an independent predictor of survival (aOR 1.87, 95% CI 1.08-3.33, p=0.023), whereas the presence of extreme prematurity was not statistically associated with mortality after controlling for fetal pulmonary response (aOR 0.52, 95% CI 0.12-2.30, p=0.367).Conclusion: Fetal pulmonary response after FETO is the most important factor associated with survival, independently from the gestational age at delivery. [ABSTRACT FROM AUTHOR]

Objective: Incidence of feed intolerance (FI) and necrotizing enterocolitis (NEC) in preterm neonates with Doppler evidence of absent end diastolic flow (AEDF) velocities in the fetal umbilical artery when enteral feed volumes were started by 6-72 h and advanced either slowly or rapidly.Methods: Stable inborn neonates, 30-36 weeks gestation, weighing ≥1000 g and with antenatal evidence of AEDF were included in this pilot study. Infants (stratified in <1250 g and ≥1250 g birth weight categories) were allocated under randomized controlled trial, to receive either slow or rapid advancement of enteral feeding, while initiating the feeds after 6 h of birth if bowel sounds were present. Primary outcome measure was, FI and NEC till day 7 after reaching full feeds.Results: Of 159 eligible infants, 83 were randomized: 53 infants in the ≥1250 g category (28 in rapid and 25 in slow group) and 30 in the <1250 g category (15 in each group). FI was present in 11% versus 16% in ≥1250 g (p = 0.570) and 27% versus 33% in <1250 g (p = 0.690), NEC developed in 8.4% (3 versus 1) in ≥1250 g and (1 versus 2) in <1250 g, in slow versus rapid feeding.Conclusion: This trial did not find increase in incidence of feed intolerance with very early introduction and rapid advancement of enteral feeds in stable preterm neonates with AEDF and birth weight ≥1250 g. [ABSTRACT FROM AUTHOR]

Objective: This study aims to assess whether the fraction of cell-free fetal DNA (cffDNA) is different at 24 h or 7 days after chorionic villus sampling (CVS), compared to subjects that do not undergo CVS.Methods: Pregnant women undergoing CVS for genetic testing and matched subjects undergoing first trimester combined screening alone were enrolled between 11(0/7) and 13(6/7) weeks gestation. The fractions of cffDNA were compared before the procedure, 24 h after and 7 days after between CVS patients and ultrasound-only patients.Results: Forty-five women underwent CVS and 45 had ultrasound alone. The women undergoing CVS were, on average, older (36.8 years versus 28.5 years, p=0.001) and had a higher baseline fraction of cffDNA than women in the comparison group (11.4% versus 9.8%, p=0.033). Both groups had a decrease in the mean fraction of cffDNA after 24 h. After 7 days, the trend of the mean fraction of cffDNA continued to decline in the CVS group but began to trend toward an increase in the ultrasound only group.Conclusions: CVS does not significantly increase the fraction of cell free fetal (placental) DNA in the maternal plasma. A downward trend in cffDNA in maternal plasma is seen at 24 h and 7 days following CVS compared to baseline. [ABSTRACT FROM AUTHOR]

Objective: To design and evaluate a noninvasive protocol for prenatal diagnosis (PND) of β-thalassemia, using cell free fetal DNA (cff-DNA) in maternal circulation. Traditional current PND which is mainly based on chorionic villous sampling (CVS), amplification refractory mutation system and sequencing holds as gold standard. Methods: Ten thalassemia trait couples with distinct mutations for the husband and wife were included in this study. The mutations in carrier fathers were IVSI-1, IVSI-5, FR8/9 and CD44. After maternal plasma isolation and free DNA extraction, all samples subjected to designed protocol including DNA size separation on agarose gel, elution of DNA from the gel slices using a simple and efficient manual purification method, with or without whole genome amplification and the detection method was allele-specific real-time PCR. Results: Presence or absence of the paternal mutant allele was correctly determined in all of cases and the accuracy of designed protocol was determined 100%. Conclusions: The protocol described here is very simple, inexpensive and easy to perform, but with satisfactory accuracy in detection of paternal mutations in cff-DNA. Due to the risk of fetal loss with current invasive sampling for PND, a noninvasive alternative is highly demanded in clinical setting. [ABSTRACT FROM AUTHOR]

Objective: To compare characteristics and outcomes of women diagnosed with gestational diabetes mellitus (GDM) by the newer one-step glucose tolerance test and those diagnosed with the traditional two-step method. Research design and methods: This was a retrospective cohort study of women with GDM who delivered in 2010–2011. Data are reported as proportion or median (interquartile range) and were compared using a Chi-square, Fisher's exact or Wilcoxon rank sum test based on data type. Results: Of 235 women with GDM, 55.7% were diagnosed using the two-step method and 44.3% with the one-step method. The groups had similar demographics and GDM risk factors. The two-step method group was diagnosed with GDM one week later [27.0 (24.0–29.0) weeks versus 26.0 (24.0–28.0 weeks);p = 0.13]. The groups had similar median weight gain per week before diagnosis. After diagnosis, women in the one-step method group had significantly higher median weight gain per week [0.67 pounds/week (0.31–1.0) versus 0.56 pounds/week (0.15–0.89);p = 0.047]. In the one-step method group more women had suspected macrosomia (11.7% versus 5.3%,p = 0.07) and more neonates had a birth weight >4000 g (13.6% versus 7.5%,p = 0.13); however, these differences were not statistically significant. Other pregnancy and neonatal complications were similar. Conclusions: Women diagnosed with the one-step method gained more weight per week after GDM diagnosis and had a non-statistically significant increased risk for suspected macrosomia. Our data suggest the one-step method identifies women with at least equally high risk as the two-step method. [ABSTRACT FROM PUBLISHER]

Objective: To estimate the cost-effectiveness of fetal aneuploidy screening in the general pregnancy population using non-invasive prenatal testing (NIPT) as compared to first trimester combined screening (FTS) with serum markers and NT ultrasound.Methods: Using a decision-analytic model, we estimated the number of fetal T21, T18, and T13 cases identified prenatally, the number of invasive procedures performed, corresponding normal fetus losses, and costs of screening using FTS or NIPT with cell-free DNA (cfDNA). Modeling was based on a 4 million pregnant women cohort, which represents annual births in the U.S.Results: For the general pregnancy population, NIPT identified 15% more trisomy cases, reduced invasive procedures by 88%, and reduced iatrogenic fetal loss by 94% as compared to FTS. The cost per trisomy case identified with FTS was $497,909. At a NIPT unit, cost of $453 and below, there were cost savings as compared to FTS. Accounting for additional trisomy cases identified by NIPT, a NIPT unit cost of $665 provided the same per trisomy cost as that of FTS.Conclusions: NIPT in the general pregnancy population leads to more prenatal identification of fetal trisomy cases as compared to FTS and is more economical at a NIPT unit cost of $453. [ABSTRACT FROM AUTHOR]

Aim: To compare transvaginal digital examination performed by residents and attending physicians to transabdominal suprapubic ultrasound in the evaluation of fetal head position in the second stage of labor.Methods: A prospective study was conducted at a tertiary center and included pregnant women at term, with normal singleton cephalic presentation fetuses. All patients had ruptured membranes and were evaluated during the second stage of labor. Fetal head position was assessed consecutively by two clinicians (one resident and one attending physician). Afterwards, transabdominal suprapubic ultrasound was performed by another observer. Examiners were blinded to each other's findings. Cohen's kappa test was used to assess the degree of agreement between the evaluation methods.Results: One-hundred sixty-one women were included. Transvaginal examination was consistent with the ultrasound in 45.0% of cases (95% CI: 37-53%) when the examination was performed by residents (k = 0.349) and in 67% (95% CI: 60-74%) if the attending physician carried out the evaluation (k = 0.604). When considering only the anterior positions, the Cohen's kappa test was 0.426 and 0.709, respectively.Conclusion: Transabdominal suprapubic ultrasound improved the accuracy of the evaluation of fetal head position, namely when transvaginal digital examination was performed by residents. This may be important especially when instrumental deliveries are considered. [ABSTRACT FROM AUTHOR]

Objective: To assess the effectiveness of grey-scale and colour Doppler ultrasound (US) versus magnetic resonance imaging (MRI) for the prenatal diagnosis of placenta accreta.Methods: A prospective observational study including a total of 74 patients with placenta previa and previous uterine scar (n = 74). Grey-scale and colour Doppler US was done followed by MRI by different observers to diagnose adherent placenta. Test validity of US and MRI were calculated. Maternal morbidity and mortality were also assessed.Results: A total of 53 patients confirmed to have placenta accreta at operation. The overall sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of US was 94.34, 91.67, 96.15 and 88% compared to 96.08, 87.50, 94.23 and 91.3% for MRI, respectively. The most relevant US sign was turbulent blood flow by colour Doppler, while dark intra-placental band was the most sensitive MRI sign. Venous thromboembolism (1.3%), bladder injury (29.7%), ureteric injury (18.9%), postoperative fever (10.8%), admission to ICU (50%) and re-operation (31.1%).Conclusion: Placenta accreta can be successfully diagnosed by grey-scale and colour Doppler US. MRI would be more likely suggested for either posteriorly or laterally situated placenta previa in order to exclude placental invasion. [ABSTRACT FROM AUTHOR]

Objective: To evaluate efficacy of cardio-STIC in detection of fetal Down syndrome.Methods: Cardio-STIC volume datasets (VDS) were prospectively collected from women during 16-22 weeks, consisting of 40 VDS acquired from fetuses with Down syndrome and 400 VDS from normal fetuses. All VDS were blindly analyzed.Results: Between both groups, most dimensions were comparable but the right-sided dimensions were significantly greater in fetuses with Down syndrome. Interestingly, shortening fraction was also significantly higher in affected fetuses. Right-to-left disproportion and shortening fraction were used as cardiac markers as well as other eight structural markers to predict fetal Down syndrome. Tricuspid regurgitation had highest sensitivity (30%); followed by VSD (27.5%), right-to-left disproportion (20.0%), and echogenic intra-cardiac foci (EIF; 17.5%). If the test was considered positive in case of the presence of any cardiac marker, cardio-STIC had a detection rate of 72.5% and false-positive rate of 19.5%. Likelihood ratio of each marker for modifying priori risk was also provided.Conclusion: Cardio-STIC as genetic ultrasound for Down syndrome had a detection rate of about 70% and false-positive rate 20%. Cardio-STIC analysis can be helpful in estimation of fetal risk for Down syndrome and counseling when the prenatal diagnosis of the syndrome is made. [ABSTRACT FROM AUTHOR]

Objective: To report the strategy of first-trimester aneuploidy screening in pregnancies at risk for homozygous α(0)-thalassemian.Methods: Women at risk of homozygous α(0)-thalassemia were given an ultrasound examination at 11-14 weeks' gestation to exclude an affected pregnancy. Fetal cardiothoracic ratio (CTR) and nuchal translucence (NT) were measured. If cardiomegaly was found, chorionic villus sampling (CVS) was offered for α-thalassemia; otherwise the first-trimester combined screening test was performed on the pregnancy. The invasive testing for karyotyping was only followed in those cases with a positive aneuploidy screening test.Results: In total, 69 of 288 pregnancies were found to be affected by homozygous α(0)-thalassemia using ultrasound, and the findings were confirmed by invasive testing. In the remaining 219 pregnancies, invasive testing was not performed for α-thalassemia because of a normal fetal CTR, and the women received the first-trimester combined screening. Nine CVS procedures were performed for karyotyping because of a positive aneuploidy screening. Totally three pregnancies with aneuploidy were diagnosed and terminated.Conclusions: Our strategy can selectively detect aneuploidy pregnancies not affected by homozygous α-thalassemia, and, meanwhile, save on the cost of unnecessary aneuploidy screening or karyotyping in pregnancies with an affected fetus of homozygous α(0)-thalassemia. [ABSTRACT FROM AUTHOR]

Objective: The purpose of this study was to determine the effect of fetal hiccups on fetal heart rate from 20 weeks of gestation onward.Methods: One thousand four hundred and fifty-six collected fetal heart rate tracings from three cohorts that participated in longitudinal studies of fetal neurobehavioral development were reviewed retrospectively for fetal hiccups. Tracings were recorded at four-week intervals from 20 weeks. A hiccup-free period before or after the episode of hiccups was used as the control fetal heart rate; thus each fetus was used as its own control. The paired t-test was used for statistical analysis.Results: From 28 weeks onward, the mean fetal heart rate increased with hiccups reaching statistical significance at 32 weeks. Fetal heart rate variability was unaffected by hiccups until 36 weeks, at which time it decreased during hiccup periods.Conclusion: This change in response to fetal hiccups may represent another neurodevelopment milestone for the fetus. [ABSTRACT FROM AUTHOR]