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Objective: To evaluate the local incidence of orofacial cleft (OFC) encountered in fetal morphology scan and prenatal diagnosis, genetic etiology of fetuses with or without other structural abnormalities, and their pregnancy outcomes. Design: Retrospective cohort study. Setting: Two maternal fetal medicine units, tertiary hospitals, Hong Kong. Participants: All pregnant women with antenatal diagnosis of fetal OFC between January 2016 and December 2020 (N = 66). Results: OFC has an incidence of 0.13% among pregnancies in Hong Kong and 28.8% (19/66) were syndromic cleft that exhibited other fetal structural anomalies. There were 55 cases (84.6%) who opted for invasive prenatal diagnostic testing. Genetic defects were identified in 25.8% (17/66) of this cohort, including 14 pathogenic variants. The detection rate in the syndromic cases is 68.4% (13/19) which was significantly higher than 8.5% (4/47) among non-syndromic cases. Aneuploidies would be the most common cause, accounting for 9.1% (6/66). Chromosomal microarray analysis (CMA) provided an incremental diagnostic yield of 6.1% compared to conventional karyotyping. A total of 29 live births including 3 cases of a variant of uncertain significance and 26 cases without genetic abnormalities detected have continued pregnancy to birth. There were 87.5% (21/24) without detectable pathogenic genetic abnormality reported good long-term outcomes. The chance of OFC fetuses having a good long-term outcome was significantly higher if no genomic variant was detected (P <.001). Conclusions: Invasive prenatal tests with CMA should be offered to pregnancies with OFC regardless of the type. It has provided incremental diagnostic yield over conventional karyotyping and helped in prenatal and genetic counseling. A negative result in non-syndromic OFC favors couples to keep the pregnancy. [ABSTRACT FROM AUTHOR]

To investigate the incidence of pathogenic recurrent CNVs in fetuses with different referral indications and review the intrauterine phenotypic features of each CNV. A total of 7,078 amniotic fluid samples were collected for chromosome microarray analysis (CMA) and cases carrying pathogenic recurrent CNVs were further studied. The highest incidence of pathogenic recurrent CNVs was 2.25 % in fetal ultrasound anomalies (FUA) group. Moreover, regardless of other indications, pregnant women with advanced maternal age have a lower incidence compared with whom less than 35 years old (p<0.05). In total 1.17 % (83/7,078) samples carried pathogenic recurrent CNVs: 20 cases with 22q11.2 recurrent region (12 microdeletion and eight microduplication), 11 with 1q21.1 (five microdeletion and six microduplication) and 16p13.11 (four microdeletion and seven microduplication), 10 with 15q11.2 recurrent microdeletion, seven with Xp22.31 recurrent microdeletion and 16p11.2 (three microdeletion and four microduplication), four with 7q11.23 (two microdeletion and two microduplication), three with 17p11.2 (three microdeletion), 17p12 (two microdeletion and one microduplication) and 17q12 (two microdeletion and one microduplication). The rest ones were rare in this study. Pathogenic recurrent CNVs are more likely to be identified in FUA group. Pregnant women with advanced maternal age have a lower incidence of pathogenic recurrent CNVs. The profile of pathogenic recurrent CNVs between prenatal and postnatal is different, especially in 22q11.2, 1q21.1, 15q13.3 recurrent region and 15q11.2 deletion. [ABSTRACT FROM AUTHOR]

Introduction: Congenital heart diseases (CHD) are among the most common form of birth defects. The fetal cardiac screening by ultrasound can detect a high proportion of cases of CHD. Detection of cardiac anomalies can be challenging and is typically done by fetal cardiac ultrasound performed between 18 and 22 weeks. A transvaginal scan can detect anomalies even at 12-13 weeks. Early and precise detection of CHD can direct appropriate management. Objectives: To detect the incidence of congenital heart diseases at a tertiary care centre and to detect cardiac anomalies early, accurately, and help avail all the benefits of early prenatal diagnosis. Methods: A descriptive cross-sectional study, where 5,000 patients were screened over a period of 10 months who came for routine second trimester (16 to 24 weeks) obstetric evaluation. The fetal heart was evaluated and sequential segmental analysis was done using ultrasonography. Detailed biometric and structural evaluations of all fetuses were undertaken. In high-risk cases (17%), or in cases with positive cardiac findings, the extended fetal echocardiographic examination was performed at 16-20 weeks(850 cases). Follow-up scans were done at 24 weeks and post-natal periods to confirm the diagnosis. Out of 5,000 screened cases, 25 fetuses had CHD. The most common indication for extended fetal echo was maternal (59.2%) followed by fetal (40.2%). In maternal indications, the most common was advanced maternal gestational age (>35 years), followed by bad obstetric history and gestational diabetes. In fetal indications, the most common was abnormal obstetric Doppler findings favouring IUGR. Results: Of 5,000 cases examined by us, at 16 - 24 weeks using Color Doppler, and a high-end ultrasound machine, we could diagnose VSD in 3 cases, ASD in 2 cases, TOF in 2 cases, Transposition of great vessels in 2 cases, Hypoplastic left heart syndrome in 2 cases, Ebstein's anomaly in 1 case and severe fetal hydrops with bradycardia in 1 case. On follow-up scan at 24 weeks, 2 additional VSD cases, 2 additional ASD cases, 2 new cases of TOF, and 1 new case of TGA were diagnosed. However, the number of cases of other pathologies remained the same. On post-natal scan additional cases of VSD, TOF and TGA diagnosed were 2, 1, and 2. Conclusion: An apparently normal appearance at any stage of pregnancy does not exclude a major heart defect, and it seems likely that some defects may be amenable to diagnosis only after birth. Hence follow-up scans with minute observation and technical expertise are need of the hour. Most of the CHDs in our region are missed, primarily because of poor socioeconomic status, lack of availability and awareness of diagnostic echocardiography. Spreading awareness and skill of fetal echocardiography is need of the hour. [ABSTRACT FROM AUTHOR]

To investigate the incidence and risk factors of bilobate placenta, as well as to assess its impact on preeclampsia (PE), preterm delivery (PTD) and small-for-gestational age (SGA) neonates. A prospective study of singleton pregnancies, undergoing routine anomaly scan at 20+0–23+6 gestational weeks, was conducted, between 2018 and 2022. The impact of prenatally diagnosed bilobate placenta on PE, PTD and SGA was assessed. Multivariate logistic regression models were employed to assess the independent association between bilobate placenta and the main pregnancy outcomes, using specific confounders. Additionally, a risk factor analysis was performed. The study population included 6,454 pregnancies; the incidence of prenatally diagnosed bilobate placenta was 2.0 % (n=129). Bilobate placenta was associated with PE (aOR: 1.721; 95 % CI: 1.014–2.922), while no statistically significant association was found between this anatomical variation and SGA (aOR: 1.059; 95 % CI: 0.665–1.686) or PTD (aOR: 1.317; 95 % CI: 0.773–2.246). Furthermore, pregnancies with prenatally diagnosed bilobate placenta had an increased prevalence of abnormal cord insertion (marginal or velamentous) (9.8 vs. 27.1 %; p<0.001) and increased mean UtA PI z-score (0.03 vs. 0.23; p=0.039). Conception via ART (aOR: 3.669; 95 % CI: 2.248–5.989), previous history of 1st trimester miscarriage (aOR: 1.814; 95 % CI: 1.218–2.700) and advancing maternal age (aOR: 1.069; 95 % CI: 1.031–1.110) were identified as major risk factors for bilobate placenta. Bilobate placenta, excluding cases of co-existing vasa previa, is associated with higher incidence of PE, increased mean UtA PI z-score and higher probability of abnormal cord insertion, but not with increased risk for SGA or PTD. It is more common in pregnancies following ART and in women with a previous 1st trimester miscarriage. [ABSTRACT FROM AUTHOR]

Joubert syndrome (JS) follows autosomal recessive inheritance, with rare X-linked recessive cases. The disease is genetically heterogeneous with neurological features associated with multiorgan involvement (e.g., retinal dystrophy, nephronophthisis, hepatic fibrosis, and polydactyly). The incidence of JS and related disorders is between 1/80,000 and 1/100,000 live births. Many causative genes have been identified, all encoding for proteins of the cilium or the centrosome, making the JS part of a group of diseases called "ciliopathies." The identification of the molecular defect in couples at risk is allowed by prenatal genetic testing, whereas fetal ultrasound and brain neuroimaging are informative in the first and second trimester of pregnancy. [ABSTRACT FROM AUTHOR]

Objective: To define the incidence of variants of aortic arch sidedness in fetuses undergoing routine first trimester ultrasound examination.Methods: The data for this study were derived from prospective routine ultrasound examination at 11+0 to 13+6 weeks' gestation in singleton pregnancies examined in a local population between January 2014 and March 2018. We examined the incidence of isolated right aortic arch (RAA) and double aortic arch (DAA) in the local, screened population and compared the groups with and without these abnormalities.Results: The study population of 33,202 pregnancies included 18 (5.4 per 10,000) cases with isolated RAA and 5 (1.5 per 10,000) with DAA. In the group with isolated RAA or DAA, compared to those without, the median maternal age was higher and the incidence of conceptions from in vitro fertilization (IVF) was eight-fold higher. The prevalence of 22q11microdeletion was 5% in patients with RAA from this local population.Conclusions: The incidence of isolated RAA and DAA in a local population undergoing routine first-trimester ultrasound examination is 2-3-fold higher than that reported in postnatal studies and the risk for these abnormalities is substantially increased in fetuses conceived by IVF. [ABSTRACT FROM AUTHOR]

Objective: To estimate the risk of miscarriage associated with chorionic villus sampling (CVS).Methods: This was a retrospective cohort study of women attending for routine ultrasound examination at 11 + 0 to 13 + 6 weeks' gestation at one of eight fetal-medicine units in Spain, Belgium and Bulgaria, between July 2007 and June 2018. Two populations were included: (1) all singleton pregnancies undergoing first-trimester assessment at Hospital Clínico Universitario Virgen de la Arrixaca in Murcia, Spain, that did not have CVS (non-CVS group); and (2) all singleton pregnancies that underwent CVS following first-trimester assessment at one of the eight participating centers (CVS group). We excluded pregnancies diagnosed with genetic anomalies or major fetal defects before or after birth, those that resulted in termination and those that underwent amniocentesis later in pregnancy. We used propensity score (PS) matching analysis to estimate the association between CVS and miscarriage. We compared the risk of miscarriage of the CVS and non-CVS groups after PS matching (1:1 ratio). This procedure creates two comparable groups balancing the maternal and pregnancy characteristics that are associated with CVS, in a similar way to that in which randomization operates in a randomized clinical trial.Results: The study population consisted of 22 250 pregnancies in the non-CVS group and 3613 in the CVS group. The incidence of miscarriage in the CVS group (2.1%; 77/3613) was significantly higher than that in the non-CVS group (0.9% (207/22 250); P < 0.0001). The PS algorithm matched 2122 CVS with 2122 non-CVS cases, of which 40 (1.9%) and 55 (2.6%) pregnancies in the CVS and non-CVS groups, respectively, resulted in a miscarriage (odds ratio (OR), 0.72 (95% CI, 0.48-1.10); P = 0.146). We found a significant interaction between the risk of miscarriage following CVS and the risk of aneuploidy, suggesting that the effect of CVS on the risk of miscarriage differs depending on background characteristics. Specifically, when the risk of aneuploidy is low, the risk of miscarriage after CVS increases (OR, 2.87 (95% CI, 1.13-7.30)) and when the aneuploidy risk is high, the risk of miscarriage after CVS is paradoxically reduced (OR, 0.47 (95% CI, 0.28-0.76)), presumably owing to prenatal diagnosis and termination of pregnancies with major aneuploidies that would otherwise have resulted in spontaneous miscarriage. For example, in a patient in whom the risk of aneuploidy is 1 in 1000 (0.1%), the risk of miscarriage after CVS will increase to 0.3% (0.2 percentage points higher).Conclusions: The risk of miscarriage in women undergoing CVS is about 1% higher than that in women who do not have CVS, although this excess risk is not solely attributed to the invasive procedure but, to some extent, to the demographic and pregnancy characteristics of the patients. After accounting for these risk factors and confining the analysis to low-risk pregnancies, CVS seems to increase the risk of miscarriage by about three times above the patient's background risk. Although this is a substantial increase in relative terms, in pregnancies without risk factors for miscarriage, the risk of miscarriage after CVS remains low and similar to, or slightly higher than, that in the general population. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective To estimate the prevalence and prognosis of proteinuria at enrolment in the 27 intervention clusters of the Community-Level Interventions for Pre-eclampsia cluster randomized trials. Methods We identified pregnant women eligible for inclusion in the trials in their communities in four countries (2013-2017). We included women who delivered by trial end and received an intervention antenatal care visit. The intervention was a community health worker providing supplementary hypertension-oriented care, including proteinuria assessment by visual assessment of urinary dipstick at the first visit and all subsequent visits when hypertension was detected. In a multilevel regression model, we compared baseline prevalence of proteinuria (≥ 1+ or ≥ 2+) across countries. We compared the incidence of subsequent complications by baseline proteinuria. Findings Baseline proteinuria was detected in less than 5% of eligible pregnancies in each country (India: 234/6120; Mozambique: 94/4234; Nigeria: 286/7004; Pakistan: 315/10 885), almost always with normotension (India: 225/234; Mozambique: 93/94; Nigeria: 241/286; Pakistan: 264/315). There was no consistent relationship between baseline proteinuria (either ≥ 1+ or ≥ 2+) and progression to hypertension, maternal mortality or morbidity, birth at < 37 weeks, caesarean section delivery or perinatal mortality or morbidity. If proteinuria testing were restricted to women with hypertension, we projected annual cost savings of 153 223 981 United States dollars (US$) in India, US$ 9 055 286 in Mozambique, US$ 53 181 933 in Nigeria and US$ 38 828 746 in Pakistan. Conclusion Our findings question the recommendations to routinely evaluate proteinuria at first assessment in pregnancy. Restricting proteinuria testing to pregnant women with hypertension has the potential to save resources. [ABSTRACT FROM AUTHOR]

Background: Small for gestational age (SGA) is a major determinant of poor perinatal outcome. Detecting SGA at term using ultrasound is challenging and we often plan birth based on clinical assessment. Aims: To determine the incidence of SGA infants with birthweight <10th centile among women undergoing planned birth at term for suspected SGA despite a normal estimated fetal weight (EFW) on ultrasound at 35–37 weeks. Materials and Methods: We performed a retrospective study including all women with a fetal growth ultrasound at ≥35 weeks reporting an EFW ≥ 10th centile (appropriate for gestational age, AGA) who subsequently had an induction of labour or caesarean birth at ≥37 weeks due to ongoing clinical suspicion of SGA between 2012–2014. The primary outcome was the incidence of SGA newborns using customised centiles. Results: There were 532 women who had a planned birth for clinical suspicion of SGA during the study period. Of these, 205 (38.5%) had an AGA fetus on ultrasound ≥35 weeks but were subsequently delivered because of a persisting clinical suspicion of SGA on abdominal assessment. Sixty‐eight percent (n = 139/205) delivered an SGA infant. Furthermore, almost half of these SGA infants (47.5%) had a birthweight <3rd centile. Neonatal outcomes were worse for the SGA infants, with 15.1% (n = 21/205) requiring special care nursery compared to 1.5% (n = 1/205) of those AGA at birth. Conclusions: A reassuring ultrasound with EFW ≥10th centile in the late third trimester should not override clinical concerns of impaired fetal growth at term. [ABSTRACT FROM AUTHOR]

Purpose: Intrapartum antibiotic prophylaxis (IAP) prevents group B streptococcus (GBS) early-onset disease (EOD). No European study evaluates the relative impact of risk factors (RFs) for EOD after a screening-based strategy and widespread IAP use We aimed to evaluate the risks of EOD in an Italian region where a screening-based strategy for preventing EOD was implemented.Materials and methods: Cases of EOD born at or above 35 weeks' gestation were reviewed and matched with controls.Results: There were 109 cases of EOD among 532,154 live births. Most cases had negative GBS prenatal screening (56/91, 61.5%) and were unexposed to IAP (86/109, 78.9%). At multivariate analysis, GBS bacteriuria (OR = 6.99), positive prenatal screening (OR = 13.7) and maternal intrapartum fever (OR = 188.3) were associated with an increased risk of EOD, whereas intrapartum beta-lactam antibiotics were associated with a decreased risk of EOD (≥4 h: OR = 0.008; <4 h: OR = 0.04). Neonates born to nonfebrile, GBS positive pregnant women, receiving beta-lactam antibiotics had very low probability of EOD, particularly if IAP was adequate.Conclusions: GBS positive prenatal screening, GBS bacteriuria and intrapartum fever are associated with EOD. Intrapartum beta-lactam antibiotics reduce the probability of EOD in neonates born to nonfebrile mothers. [ABSTRACT FROM AUTHOR]

Aim: This study aimed to clarify ultrasound screening and management for vasa previa (VP) in perinatal centers and primary facilities in Japan. Methods: A questionnaire survey about antepartum ultrasound screening and management for VP was delivered in 2018. Questions were sent by email or post to perinatal centers and randomly selected primary hospitals or clinics throughout Japan. Results: Seventy‐seven perinatal centers and 300 primary facilities answered. VP was screened in 85.7% of perinatal centers and 81.3% of primary facilities. The reported incidence of VP was 0.05% (86/158 323) and 0.05% (28/54 791) in perinatal centers and primary facilities, respectively. When patients were diagnosed with VP, 88.7% of primary facilities referred the patient to a tertiary hospital. Routine hospitalization (100%) and steroid administration (46%) were frequently performed in perinatal centers. The median gestational age at planned cesarean section was significantly earlier in perinatal centers (34 weeks) than in primary facilities (37 weeks). Of the 31 reported cases of VP, 30 were reported as intact survival, but 1 case required an emergency cesarean section at 38 weeks of gestation without an antenatal diagnosis, resulting in neonatal death. Conclusion: More than 80% of obstetric facilities both perinatal centers and clinics in Japan perform ultrasound screening with for VP with similar detection rate. However, to further improve perinatal outcomes related to VP, pathophysiology and diagnosis of VP should be more widely recognized by obstetric caregivers throughout Japan. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the natural history and outcome of selective fetal growth restriction (sFGR) in monochorionic diamniotic (MCDA) twin pregnancy, according to gestational age at onset and various reported diagnostic criteria, and to quantify the risk of superimposed twin-to-twin transfusion syndrome (TTTS).Methods: This was a cohort study of MCDA twin pregnancies that had their routine antenatal care from the first trimester at St George's Hospital, London, UK. Pregnancies had ultrasound examinations every 2 weeks at 16-24 weeks and then every 2-3 weeks until delivery. The diagnostic criteria for sFGR were estimated fetal weight (EFW) of one twin < 10th centile and intertwin EFW discordance ≥ 25%. We also applied other diagnostic criteria reported in a recent Delphi consensus. Pregnancies in which the diagnosis of TTTS was made before that of sFGR were not included in the analysis. Pregnancies that underwent fetal intervention for sFGR were excluded. The incidence of sFGR was compared between the different diagnostic criteria, overall and according to gestational age at onset. In all subsequent analyses, cases of sFGR included those diagnosed according to any of the criteria. The Gratacós classification of sFGR was applied (Type I, II or III). Pregnancy outcomes included miscarriage, intrauterine death, neonatal death and admission to the neonatal unit. Comparisons between groups were carried out using the Mann-Whitney U-test for continuous variables and the chi-square or Fisher's exact test for categorical variables.Results: The analysis included 287 MCDA twin pregnancies. According to the International Society of Ultrasound in Obstetrics and Gynecology diagnostic criteria, the incidence of early (< 24 weeks) sFGR was 4.9%, while that of late sFGR was 3.8%. When applying the various diagnostic criteria, the incidence of early sFGR varied from 1.7% to 9.1% and that of late sFGR varied from 1.1% to 5.9%. In early-onset cases, the incidence of Type I sFGR was 80.8%, that of Type II was 15.4% and that of Type III was 3.8%. The corresponding figures in late-onset cases were 94.4%, 5.6% and 0%. The incidence of superimposed TTTS was 26.9% in cases affected by early-onset sFGR and 5.6% in those affected by late-onset sFGR. The incidence of perinatal death was 8.0% in early-onset sFGR and 5.6% in late-onset sFGR (P = 0.661). Admission to the neonatal unit occurred in 61.0% and 52.9% of cases, respectively (P = 0.484).Conclusions: In MCDA twin pregnancies, early-onset sFGR is slightly more common than is late-onset sFGR, although this difference was not significant, and is associated with worse perinatal outcome. The incidence of Types II and III sFGR is higher in early-onset sFGR. The incidence also varies according to the diagnostic criteria used, which supports the use of standardized international diagnostic criteria. Superimposed TTTS is more common in early- than in late-onset sFGR. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objective: The traditional definition of pre-eclampsia (PE) is based on the development of hypertension and proteinuria. This has been revised recently to include cases without proteinuria but with evidence of renal, hepatic or hematological dysfunction. The aim of this study was to examine the impact of new definitions of PE on, first, the incidence and severity of the disease and, second, the performance of the competing-risks model for first-trimester assessment of risk for PE.Methods: This was a retrospective study of 66 964 singleton pregnancies that were classified as having PE, gestational hypertension (GH) or no PE or GH, according to the traditional criteria of the International Society for the Study of Hypertension in Pregnancy (ISSHP-old), which defines PE as the presence of both hypertension and proteinuria. We reviewed the records of pregnancies with GH, and those cases with high creatinine or liver enzymes or low platelet count were reclassified as having PE, according to the new criteria of ISSHP (ISSHP-new) and the new criteria of the American College of Obstetricians and Gynecologists (ACOG). The groups of PE according to the traditional and new criteria were compared for, first, gestational age at delivery, birth-weight percentile and incidence of a small-for-gestational-age (SGA) neonate with birth weight < 10th percentile and perinatal death, and, second, the predictive performance for preterm PE of the competing-risks model based on the combination of maternal risk factors, uterine artery pulsatility index, mean arterial pressure and serum placental growth factor at 11-13 weeks' gestation (triple test).Results: According to ISSHP-old, 1870 (2.8%) cases had PE, 2182 (3.3%) had GH and 62 912 (94.0%) had no PE or GH. The incidence of PE according to ACOG was 3.0% (2029/66 964) and ISSHP-new was 3.4% (2301/66 964). Median gestational age at delivery in the extra cases of PE according to ACOG (difference, 1.3 weeks; 95% CI, 0.71-1.71 weeks) and in the extra cases of PE according to ISSHP-new (difference, 1.5 weeks; 95% CI, 1.29-1.71 weeks) was higher than in cases with PE according to ISSHP-old (38.4 weeks). The incidence of a SGA neonate in the extra cases of PE according to ACOG (relative risk, 0.57; 95% CI, 0.42-0.79) and in the extra cases of PE according to ISSHP-new (relative risk, 0.52; 95% CI, 0.42-0.65) was lower than in the cases of PE according to ISSHP-old (33.64%). In first-trimester screening for preterm PE by the triple test, the detection rate, at a 10% false-positive rate, was 75.9% (95% CI, 70.8-80.6%) for ISSHP-old, 74.3% (95% CI, 69.2-79.0%) for ACOG and 74.0% (95% CI, 68.9-78.6%) for ISSHP-new.Conclusions: The new definitions of PE resulted in, first, an increase in pregnancies classified as having PE but the additional cases had milder disease, and, second, a non-significant decrease in the performance of first-trimester screening for PE. © 2019 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Background: Alcohol use during pregnancy can have a variety of harmful consequences on the fetus. Lifelong effects include growth restriction, characteristic facial anomalies, and neurobehavioral dysfunction. This range of effects is known as fetal alcohol spectrum disorders (FASD). There is no amount, pattern, or timing of alcohol use during pregnancy proven safe for a developing embryo or fetus. Therefore, it is important to screen patients for alcohol use, inform them about alcohol's potential effects during pregnancy, encourage abstinence, and refer for intervention if necessary. However, how and how often nurses and midwives inquire about alcohol drinking during pregnancy or use recommended screening tools and barriers they perceive to alcohol screening has not been well established. Methods: This survey was sent to about 6,000 American midwives, nurse practitioners, and nurses who provide prenatal care about their knowledge of the effects of prenatal alcohol exposure, the prevalence of alcohol use during pregnancy, and practices for screening patients' alcohol use. Participants were recruited by e‐mail from the entire membership roster of the American College of Nurse‐Midwives. Results: There were 578 valid surveys returned (about 9.6%). Analyses showed that 37.7% of the respondents believe drinking alcohol is safe during at least one trimester of pregnancy. Only 35.2% of respondents reported screening to assess patient alcohol use. Only 23.3% reported using a specific screening tool, and few of those were validated screens recommended for use in pregnant women. Respondents who believe alcohol is safe at some point in pregnancy were significantly less likely to screen their patients. Conclusions: Respondents who reported that pregnancy alcohol use is unsafe felt more prepared to educate and intervene with patients regarding alcohol use during pregnancy and FASD than respondents who reported drinking in pregnancy was safe. Perceived alcohol safety and perceived barriers to screening appeared to influence screening practices. Improving prenatal care provider knowledge about the effects of prenatal alcohol exposure and the availability of valid alcohol screening tools will improve detection of drinking during pregnancy, provide more opportunities for meaningful intervention, and ultimately reduce the incidence of FASD. [ABSTRACT FROM AUTHOR]

Objectives: We aim to determine factors that are associated with better outcomes of CDH patients.Methods: A retrospective review was performed on all CDH patients admitted to our institution between 2003 and 2016. This study was performed at a single institution which has a fetal care center. Patients admitted with CDH with at least 1-year follow-up during the analysis were included in the study.Results: Twenty-six (13.8%) patients had a hernia sac, 124 (59%) patients had liver herniation, and 56 (25.1%) patients had an accompanying syndrome. Overall survival to discharge was 73.1% while overall survival to date was 69.5%. The presence of a hernia sac, liver herniation, and accompanying syndromes showed as independent predictors influencing the survival, B 1.968, p = 0.04, OR 7.158, 95% CI 0.907-56.485, B - 1.178, p = 0.01, OR 3.932, 95% CI 1.798-8.602 and B - 1.032, p = 0.05, OR 2.795, 95% CI 0.976-7.764, respectively.Conclusion: In our CDH cohort, the presence of a hernia sac was proven to be associated with better outcomes, while thoracic herniation of the liver was associated with worse outcomes. The accompanying syndromes although being more difficult to manage had a little effect on the outcome of the disease itself. [ABSTRACT FROM AUTHOR]

Objective: The rate of congenital diaphragmatic hernia (CDH) varies, but most reports estimate the incidence to be less than three per 10,000 births. Our objective was to document the incidence of CDH in a geographically well-defined population using available resources for highly accurate incident case ascertainment.Methods: We ascertained CDH cases in Olmsted County, Minnesota, United States of America, from 1981 through 2014 using resources of the Rochester Epidemiology Project. Overall and sex-specific incidence rates were calculated, and hospital survival was assessed.Results: A total of 26 incident CDH cases were identified; the overall incidence of 3.6 (95% CI, 2.2-5.0) per 10,000 did not differ significantly over the 34-year study period (p = .28). The estimated incidence was 4.3 (95% CI, 2.2-6.5) for male infants and 2.9 (95% CI, 1.1-4.6) for female infants. The percentage of cases diagnosed prenatally was 33% from 1981 through 2000 and 50% from 2001 through 2014. The rate of survival to discharge in the two periods was 50% and 88%.Conclusion: The incidence of CDH in Olmsted County exceeds the majority of published rates, which most likely can be attributed to our comprehensive case ascertainment. [ABSTRACT FROM AUTHOR]

Background: Peripartal hysterectomy (PH) is a challenging surgical procedure with elevated maternal morbidity. Methods: From 2004 to 2016, 41 emergency PHs were performed at the tertiary care center of the Department of Gynecology and Obstetrics at University Hospital Ulm. In our retrospective analysis, the incidence of PH in our hospital was 12.8 per 10,000 deliveries with a maternal mortality of 2.4%. PH followed in 80.5% after cesarean section (c-section). Underlying causes/indications for PH were abnormal placentation (53.7%; n=22), uterine atony (26.8%; n=11), uterine lacerations (14.6%; n=6) and in rare cases uterine infection (4.9%; n=2). The median number of transfused products was 11 packed red blood cells (range 0–55 products), 10 fresh frozen plasma units (range 1–43) and two platelet concentrates (0–16). Results: Loss of blood as estimated by surgeons was significantly correlated with actual transfused blood volume (P<0.001). Clinically relevant intra- and/or postoperative complications occurred in 53.7% of patients (n=22). Abnormal placentation was the leading cause for PH with an increased incidence during the last 10 years presumptively representing the elevated rate of c-sections. Conclusion: PH goes along with increased rates of blood product transfusions independently of indication for surgery and has a high morbidity with a major complication rate of more than 50%. Prepartal assessment of risk factors like abnormal invasive placenta are crucial for reducing maternal morbidity. [ABSTRACT FROM AUTHOR]

Within a century, congenital syphilis has been reduced from a major cause of morbidity and mortality to a condition rarely seen in the UK. Here, newly-derived literature and information searches were used to create a contemporary overview of the epidemic, including its epidemiology. Although constrained by high-quality healthcare services and with an incidence below the World Health Organization elimination threshold, congenital syphilis still has the potential to cause major consequences for the health and life chances of affected infants. If the complex challenges presented by this preventable disease are to be resolved, intervention strategies need to be optimised, rigorously assessed and extended across Europe. [ABSTRACT FROM AUTHOR]

Objective: To evaluate whether grade 4-5 vesicoureteral reflux (VUR) can be predicted from renal ultrasound (RUS) findings and perform voiding cystourethrograms (VCUGs) only on high-risk patients.Methods: The RUS and VCUG images of infants with prenatally detected hydronephrosis admitted to our institution between 2003 and 2013 were re-evaluated. The UTI episodes were collected retrospectively from patient journals. Patients with complex urinary tract anomalies were excluded.Results: One hundred eighty, 44 female and 136 male, patients (352 renal units (RU)), 23 (30 RU) of them having grade 4-5 VUR, were included. The median age of the patients at the time of the RUS was 1.3 (0.1-3.0) months and the median follow-up time was 2.0 (0.1-11.2) years.In multivariate analysis, a visible ureter (OR 12.72; CI 5.33-32.04, p < 0.001) and shorter renal length (OR 2.67; CR 1.50-4.86, p < 0.001) in RUS predicted grade 4-5 VUR while a visible ureter predicted UTIs (OR 5.75; CI 2.59-12.66, p < 0.001).A three-grade risk score for high-grade VUR was developed based on the RUS findings and the patients were categorized into low-, intermediate-, and high-risk groups. The incidence of grade 4-5 VUR was 2.9% in the low-risk, 12.2% in the intermediate-risk, and 52.2% in the high-risk group. The sensitivity and specificity for detecting grade 4-5 VUR were 79 and 82%, respectively.Conclusions: In patients with antenatally detected hydronephrosis, a visible ureter and reduced renal length in RUS are significant risk factors for high-grade VUR. A RUS-based risk scoring would probably reduce the proportion of unnecessary VCUGs. [ABSTRACT FROM AUTHOR]

Objective: Intrauterine adhesions (IUAs) are a problematic complication after termination of pregnancy, but their incidence is unknown. Our objective was to assess the incidence of IUAs following induced termination of pregnancy and the risk factors for IUAs.Design: Retrospective cohort study.Setting: A nationwide registry study.Sample: All women undergoing induced termination of pregnancy (n = 80 015) in Finland between 2000 and 2008.Methods: The data were retrieved from the Finnish Abortion Registry and the Hospital Discharge Registry. The diagnosis of IUAs or complications was based on the diagnostic codes (International Statistical Classification of Diseases and Related Health Problems 10th Revision, ICD-10) and operative codes according to the Nordic Medico-Statistical Committee (NOMESCO) Classification of Surgical Procedures (NCSP). IUAs were defined as ICD-10 code N85.6 or operative code LCG02. A subanalysis of IUA cases and five matched controls was performed.Main Outcome Measures: The incidence of and risk factors for IUAs.Results: A total of 12 (1.5 per 10 000) IUA diagnoses were identified from 79 960 eligible induced terminations of pregnancy. The rate of IUAs was 1.5 and 2.0 cases per 10 000 terminations of pregnancy following medically and surgically induced termination of pregnancy, respectively (P = 0.19). In a subgroup analysis of IUA cases and five matched controls, surgical treatment of the remaining products of conception following termination of pregnancy significantly increased the risk of IUAs (odds ratio, OR 5.50; 95% confidence interval, 95% CI 1.46-20.79; P = 0.012).Conclusion: IUAs that require further treatment are rare after an induced termination of pregnancy. Surgical evacuation following medical or surgical termination of pregnancy was a risk factor for the diagnosis of IUAs. These results suggest that trauma to a recently pregnant uterus is an important risk factor for IUAs.Tweetable Abstract: IUA is rare after induced termination of pregnancy (iTOP), but surgical evacuation is a risk factor for IUAs. [ABSTRACT FROM AUTHOR]

Objective: To describe the long-term outcomes, treatment pathways and risk factors for patients diagnosed with hypoplastic left heart syndrome (HLHS) in England and Wales.Methods: The UK's national audit database captures every procedure undertaken for congenital heart disease and updated life status for resident patients in England and Wales. Patients with HLHS born between 2000 and 2015 were identified using codes from the International Paediatric and Congenital Cardiac Code.Results: There were 976 patients with HLHS. Of these, 9.6% had a prepathway intervention, 89.5% underwent a traditional pathway of staged palliation and 6.4% of infants underwent a hybrid pathway. Patients undergoing prepathway procedures or the hybrid pathway were more complex, exhibiting higher rates of prematurity and acquired comorbidity. Prepathway intervention was associated with the highest in-hospital mortality (34.0%).44.6% of patients had an off-pathway procedure after their primary procedure, most frequently stenting or dilation of residual or recoarctation and most commonly occurring between stage 1 and stage 2.The survival rate at 1 year and 5 years was 60.7% (95% CI 57.5 to 63.7) and 56.3% (95% CI 53.0 to 59.5), respectively. Patients with an antenatal diagnosis (multivariable HR (MHR) 1.63 (95% CI 1.12 to 2.38)), low weight (<2.5 kg) (MHR 1.49 (95% CI 1.05 to 2.11)) or the presence of an acquired comorbidity (MHR 2.04 (95% CI 1.30 to 3.19)) were less likely to survive.Conclusion: Treatment pathways among patients with HLHS are complex and variable. It is essential that the long-term outcomes of conditions like HLHS that require serial interventions are studied to provide a fuller picture and to inform quality assurance and improvement. [ABSTRACT FROM AUTHOR]

Meconium-stained amniotic fluid (MSAF) during delivery is a marker of fetal stress. Neonates born through MSAF often need resuscitation and are at risk of meconium aspiration syndrome (MAS), air leaks, hypoxic-ischemic encephalopathy, extracorporeal membrane oxygenation (ECMO), and death. The neonatal resuscitation approach to MSAF has evolved over the last three decades. Previously, nonvigorous neonates soon after delivery were suctioned under the vocal cords with direct visualization technique using a meconium aspirator. The recent neonatal resuscitation program (NRP) recommends against suctioning but favors resuscitation with positive pressure ventilation of nonvigorous neonates with MSAF. This recommendation is aimed to prevent delay in resuscitation and minimize hypoxia-ischemia often associated with MSAF. In this review, we discuss the pathophysiology, evolution and the evidence, randomized control trials, observational studies, and translational research to support these recommendations. The frequency of ECMO use for neonatal respiratory indication of MAS has declined over the years probably secondary to improvements in neonatal intensive care and reduction of postmaturity. Changes in resuscitation practices may have contributed to reduced incidence and severity of MAS. Larger randomized controlled studies are neededamong nonvigorous infants with MSAF. However, ethical dilemmas and loss of equipoise pose a challenge to conduct such studies. [ABSTRACT FROM AUTHOR]

In 2013, the National Health Service Commissioning board centralized the funding in England for up to three cycles of pre-implantation genetic diagnosis (PGD) for couples who have, or are carriers of, a specific genetic disorder. This study presents the historical data of PGD cycles and their clinical outcomes in UK as extrapolated from the national data registry. Retrospective analysis of outcome of cycles undergoing pre-implantation genetic diagnosis in the UK over the past 20 years was performed from the Human Fertilisation and Embryology Authority database (n = 2974). Binary logistic regression was used to determine trends over time and adjusted for maternal age. Briefly, the number of PGD cycles has risen 127-fold from 1991 to 2012 with 3.6-fold increase (360% rise) from 2004 to 2012. A total of one in four embryos following pre-implantation genetic diagnosis did not reach embryo transfer and 92% of these were due to a failure to survive. The live birth rate has risen over 20 years and there has been a steady decline in reported incidence of congenital abnormalities (p < 0.07). PGD has thus emerged as a safe and effective alternative to prenatal diagnosis but with ever evolving technological advances, a robust system of data collection that incorporates techniques used and reporting of mutation-specific clinical outcomes is suggested. [ABSTRACT FROM AUTHOR]

Background The majority of non-syndromic hearing loss (NSHL) patients result from causative mutations in GJB2 , SLC26A4 and mitochondrial 12S rRNA genes. Accurate detection of these genetic mutations is increasingly recognized for its clinical significance to reduce incidence and guide individual treatment of NSHL. Current methods for clinical practice are labor intensive, expensive or of low sensitivity. Methods Genomic DNA from 7 newborns not passing the hearing screening and 94 newborns passing the hearing screening were analyzed for the common mutations using high resolution melting analysis (HRMA) and Sanger sequencing. Results Our newly developed HRMA allowed the hot-spot mutations of GJB2 c.176_191del16 and c.235delC, SLC26A4 IVS7-2A > G and mitochondrial 12S rRNA 1494C > T and 1555A > G to be detected by melting profiles based on small amplicons. HRMA can distinguish different content mutant DNA from wildtype DNA, with a detection limit of 5%. Moreover, the results were highly concordant between HRMA and Sanger sequencing. Conclusions These results indicate that HRMA could be used as a routine clinical method for prenatal diagnosis and newborn genetic screening due to its accuracy, sensitivity, and rapid, low-cost and less laborious workflows. [ABSTRACT FROM AUTHOR]

Objective: To examine the effect of chronic hypertension (CH), with and without superimposed pre-eclampsia (PE), on the incidence of a small-for-gestational-age (SGA) neonate and to explore the possible mechanism for such association.Methods: Data for this study were derived from prospective screening for adverse pregnancy outcomes in women with singleton pregnancy attending their first routine hospital visit at 11-13 weeks' gestation, which included recording of maternal characteristics and medical history and measurement of mean arterial pressure (MAP). Birth-weight Z-score, adjusted for gestational age and maternal and pregnancy characteristics, and incidence of SGA were compared between those with and those without CH in the total population and in the subgroups of pregnancies with and without PE. Regression analysis was used to examine the relationship between MAP and birth-weight Z-score and incidence of SGA and PE in those with and those without CH.Results: The study population constituted 74 226 pregnancies, including 1052 (1.4%) with CH and 73 174 without CH. PE developed in 233 (22.1%) cases of the group with CH and in 1662 (2.3%) of those without CH. In the group that developed PE, there was no significant difference for either median birth-weight Z-score or incidence of SGA between those with CH and those without CH. In the group without PE, the incidence of SGA was twice as high in those with CH than in those without. There was a significant association between log10 MAP multiples of the median and incidence of SGA and PE, which was more marked in those with CH than in those without.Conclusion: CH is associated with an increased risk of SGA and PE and this is related to MAP at 11-13 weeks' gestation. Copyright © 2017 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Background: PWS is a severe neurodevelopmental genetic disorder now usually diagnosed in the neonatal period from hypotonia and feeding difficulties. Our study analyzed the birth incidence and care of infants with early diagnosis.Methods: Data were collected on 61 infants with a molecular diagnosis of PWS born in 2012 and 2013 in France.Results: Thirty-eight infants with PWS were born in 2013. The median age at diagnosis was 18 days. Birth incidence calculated for 2013 was 1/21,000 births. No case was diagnosed prenatally, despite 9 amniocenteses, including 4 for polyhydramnios. Five infants had delayed diagnosis, after 3 months of life. For 2 of them, the diagnosis was not suspected at birth and for 3, FISH analysis in the neonatal period was normal, with no further molecular studies. Ninety-three percent of the neonates were hospitalized, and 84% needed nasogastric tube feeding for a median of 38 days. Swallowing assessment was performed for 45%, at a median age of 10 days. Physiotherapy was started for 76% during hospitalization. Eighty percent of those diagnosed within the first 3 months were seen by a pediatric endocrinologist within the first week of life.Conclusion: Our study is the first to assess the birth incidence of PWS in France, at 1/21,000 births. Some prenatal or neonatal cases remain undiagnosed because of unrecognized clinical signs and the inappropriate choice of the initial molecular test. We also underscore the need to optimize neonatal care of infants with PWS. [ABSTRACT FROM AUTHOR]

Introduction: Ethnic differences in the birth prevalence of congenital heart defects (CHDs) have been reported; however, studies of the contemporary UK population are lacking. We investigated ethnic variations in incidence of serious CHDs requiring cardiac intervention before 1 year of age.Methods: All infants who had a cardiac intervention in England and Wales between 1 January 2005 and 31 December 2010 were identified in the national congenital heart disease surgical audit and matched with paediatric intensive care admission records to create linked individual child records. Agreement in reporting of ethnic group by each audit was evaluated. For infants born 1 January 2006 to 31 December 2009, we calculated incidence rate ratios (IRRs) for CHDs by ethnicity and investigated age at intervention, antenatal diagnosis and area deprivation.Results: We identified 5350 infants (2940 (55.0%) boys). Overall CHD incidence was significantly higher in Asian and Black ethnic groups compared with the White reference population (incidence rate ratios (IRR) (95% CIs): Asian 1.5 (1.4 to 1.7); Black 1.4 (1.3 to 1.6)); incidence of specific CHDs varied by ethnicity. No significant differences in age at intervention or antenatal diagnosis rates were identified but affected children from non-White ethnic groups were more likely to be living in deprived areas than White children.Conclusions: Significant ethnic variations exist in the incidence of CHDs, including for specific defects with high infant mortality. It is essential that healthcare provision mitigates ethnic disparity, including through timely identification of CHDs at screening, supporting parental choice and effective interventions. Future research should explore the factors underlying ethnic variation and impact on longer-term outcomes. [ABSTRACT FROM AUTHOR]

Objectives: The incidence of gestational diabetes mellitus (GDM) is gradually increasing all over the world. Some studies determined that the prevalence of anxiety and depression is higher in pregnant women with versus without GDM. The present study aimed to determine whether GDM enhances anxiety level in pregnant women. Materials and Methods: This cross-secitonal study was performed in 281 pregnant women presented to the Kartal Dr. Lütfi Kırdar Training and Research Hospital, Gynecology and Obstetrics Clinic between June 2014 and June 2015 and were diagnosed with or without GDM based on 75 gram oral glucose tolerance test. A survey form created by the researchers and Hospital Anxiety and Depression (HAD) Scale were performed in all pregnant women. Results: A total of 281 pregnant women were enrolled in the study and 133 (47.33%) were healthy, whereas 148 (52.67%) had GDM. The mean age of the participants was 30.17 ± 5.62 years and gestational age was 202.71 ± 56.31 days. According to educational status, 178 (66.90%) of the participants were primary school graduates. The mean scores of anxiety subscale and depression subscale were determined as 9.16 ± 2.88 and 9.05 ± 2.42, respectively. While the score of anxiety subscale was found 10 or higher in 108 (40.30%) pregnant women, the score of depression subscale was 7 or higher in 236 (88.40%) of them. Conclusion: In our study, the average anxiety score of pregnant women with GDM was significantly higher than women without GDM and no difference was found between the two groups in terms of depression level. Further researches are needed to clarify that diabetes in pregnancy causes anxiety, but this study has shown us that GDM may cause an increase in antenatal anxiety scores. [ABSTRACT FROM AUTHOR]

Objective: To determine the incidence of pregnancy in liver transplant (LT) patients in a large population-based cohort and to determine the maternal and fetal risks associated with these pregnancies. Methods: We conducted an age-matched cohort study using the US Healthcare and Utilization project–Nationwide Inpatient Sample from 2003–2011. We used unconditional logistic regression, adjusted for baseline characteristics, to estimate the likelihood of common obstetric complications in the LT group compared with age-matched nontransplant patients. Results: There were 7 288 712 deliveries and an estimated incidence of 2.1 LTs/100 000 deliveries over the nine-year study period. LT patients had higher rates of maternal complications including hypertensive disorders (OR 6.5, 95% CI: 4.4–9.5), gestational diabetes (OR 1.9, 95% CI: 1.0–3.5), anemia (OR 3.2, 95% CI: 2.1–4.9), thrombocytopenia (OR 27.5, 95% CI: 12.7–59.8) and genitourinary tract infections (OR 4.2, 95% CI: 1.8–9.8). Deliveries among women with LT had higher risks of cesarean section (OR 2.9, 95% CI: 2.0–4.1), postpartum hemorrhage (OR 3.2, 95% CI: 1.7–6.2) and blood transfusion (OR 18.7, 95% CI: 8.5–41.0). Fetal complications in LT patients included preterm delivery (OR 4.7, 95% CI: 3.2–7.0), intrauterine growth restriction (OR 4.1, 95% CI: 2.1–7.7) and congenital anomalies (OR 6.0, 95% CI: 1.1–32.0). Conclusion: Although pregnancies in LT recipients are feasible, they are associated with a high rate of maternal and fetal morbidities. Close antenatal surveillance is recommended. [ABSTRACT FROM PUBLISHER]

Background: Depressed mood is prevalent during pregnancy, with accumulating evidence suggesting an impact on developmental outcome in the offspring. However, the long-term effects of prenatal maternal depression regarding internalizing psychopathology in the offspring are as yet unclear.Methods: As part of an ongoing epidemiological cohort study, prenatal maternal depressed mood was assessed at the child's age of 3 months. In a sample of n=307 offspring, depressive symptoms were obtained via questionnaire at the ages of 19, 22, 23 and 25 years. At age 25 years, diagnoses of depressive disorder were obtained using a diagnostic interview. In a subsample of currently healthy participants, voxel-based morphometry was conducted and amygdala volume was assessed.Results: In n=85 young adults exposed to prenatal maternal depressed mood, no significantly higher risk for a diagnosis of depressive disorder was observed. However, they reported significantly lower levels of depressive symptoms. This association was especially pronounced when prenatal maternal depressed mood was present during the first trimester of pregnancy and when maternal mood was depressed pre- as well as postnatally. At an uncorrected level only, prenatal maternal depressed mood was associated with decreased amygdala volume.Limitations: Prenatal maternal depressed mood was not assessed during pregnancy, but shortly after childbirth. No diagnoses of maternal clinical depression during pregnancy were available.Conclusions: Self-reported depressive symptoms do not imply increased, but rather decreased symptom levels in young adults who were exposed to prenatal maternal depressed mood. A long-term perspective may be important when considering consequences of prenatal risk factors. [ABSTRACT FROM AUTHOR]

Objectives: Polyhydramnios is suggested to be associated with oral clefts (OCs) due to swallowing problems. This study assessed incidence and outcome of idiopathic polyhydramnios in isolated OC pregnancies.Methods: This was a retrospective cohort study of prenatally diagnosed OC. The incidence of idiopathic polyhydramnios in isolated OC pregnancies was determined. Pregnancy outcome, neonatal and paediatric follow-up were compared between cases with polyhydramnios and those with normal amniotic fluid. Subgroup analysis was conducted to evaluate whether an association exists between polyhydramnios and presence of associated anomalies diagnosed after birth.Results: In 230 cases of isolated OC, 15 developed polyhydramnios (6.5%). Involvement of the palate was significantly more common in the presence than in the absence of polyhydramnios (13/15 or 87% vs 125/215 or 58%, p = 0.03, odds ratio 4.7, 95% confidence interval 1.0-30.8). No significant differences were seen in pregnancy outcome or neonatal and paediatric follow-up between the two groups. In subgroup analysis, rate of polyhydramnios was not significantly different in associated cases that appeared isolated prenatally (1/27; 3.7%) compared with that in the isolated cases (15/230; 6.5%).Conclusions: The incidence of idiopathic polyhydramnios in isolated OC pregnancies is 6.5%. Polyhydramnios in isolated OC increases the risk of palate involvement. The presence of polyhydramnios is not associated with adverse perinatal or long-term outcome. If isolated at prenatal assessment, polyhydramnios does not increase the risk of associated anomalies postpartum. © 2016 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Background: Scarce data exist about screening, diagnosis and prognosis of non-primary Cytomegalovirus (CMV) during pregnancy. We aimed to examine antenatal diagnosis of maternal non-primary CMV infection and to identify risk factors for congenial CMV disease.Methods: Retrospective cohort of 107 neonates with congenital symptomatic CMV infection, following either primary (n = 95) or non-primary (n = 12) maternal CMV infection. We compared the groups for the manifestations and severity of congenial CMV disease, as well as for possible factors associated with the risk of developing CMV related infant morbidity.Results: Disease severity is not similar in affected newborns, with a higher incidence of abnormal brain sonographic findings, following primary versus non-primary maternal CMV infection (76.8% vs. 8.3%, p < .001). Symptomatic congenital CMV disease following a non-primary infection is more frequent if gestational hypertensive disorders and/or gestational diabetes mellitus have ensued during pregnancy (33.3% vs. 9.9%, p <0.038), as well as if any medications were taken throughout gestation (50% vs. 16.8%, p <0.016). CMV-IgM demonstrates a low detection rate for non-primary maternal infection during pregnancy compared to primary infection (25% vs. 75.8%, p = 0.0008).Conclusion: Non-primary maternal CMV infection has an impact on the neonate. Although not readily diagnosed during pregnancy, knowledge of risk factors may aid in raising clinical suspicion. [ABSTRACT FROM AUTHOR]

Background: Congenital pulmonary airway malformation (CPAM) is an increasingly recognized disease with potential mortality. Owing to limited published studies, the true incidence is yet to be determined. We carried out this prospective study with the aim to estimate its true incidence on a population basis.Methods: An antenatal ultrasonography program was implemented since 2009. Fetuses with suspected intra-thoracic lesions were monitored by regular follow-ups. Antenatal course, postnatal outcomes, and other demographics were compared to those of patients with CPAM in the previous decades (1989-2008). The incidence of CPAM was calculated in different periods.Results: 66 CPAM patients were identified between 2009 and 2014 with 62 patients being detected by antenatal scan. In contrast, 45 patients were identified between 1989 and 2008 with 27 patients being detected antenatally. The incidence rate during the past and recent period was estimated as ~1 in 27,400 and ~1 in 7200 live births, respectively (p = 0.024).Conclusion: With increasing awareness of clinicians and the universal use of latest ultrasound technology, it is likely that more CPAM cases will be detected in the future. Here, we presented our best estimated incidence rate of CPAM, yet only a larger scale study can reveal its true incidence. [ABSTRACT FROM AUTHOR]

Backgound: Caudal regression syndrome (CRS) is an uncommon disorder in which there is abnormal development of the caudal end of the foetal spine along with many associated anomalies. Manifestations of this syndrome can vary from the absence of a few terminal coccygeal segments to complete lumbosacral agenesis. Its overall incidence is 1 in 60000 live births. It is more commonly seen in infants of diabetic mothers, with a 200-fold increased risk as compared to the general population. Case Report: We present a case of CRS in a foetus of a non-diabetic mother and discuss the role of radiology in early diagnosis and timely management. We also correlate initial abnormalities of the nervous system found on imaging with postnatal clinical deficits. Conclusions: This case highlights the rarity caudal regression syndrome in a foetus of a non-diabetic mother. Early diagnosis of CRS is important for appropriate management. [ABSTRACT FROM AUTHOR]

Background: In Pakistan, incidence of antenatal depression ranges from 18 to 80 %, which goes undiagnosed, resulting in maternal and neonatal implications. The current study aimed to examine the association of antenatal depression with maternal dietary intake and neonatal outcome.Methods: A hospital-based, prospective cohort study was conducted on 94 middle class antenatal attendees coming to a tertiary care hospital in Lahore, Pakistan at the beginning of second trimester. Participants fulfilling eligibility were enrolled consecutively after taking written informed consent. Exposure group was identified by Edinburgh Postnatal Depression Scale (EPDS) and cohort members were followed till after delivery. Maternal dietary intake was assessed by 24-h Recall and Food Frequency Checklist, while neonatal outcome was identified through patient files before discharge. Data on potential confounders was collected. Loss to follow up was 13 % (82/94). Data was collected from April-September 2013. Results for 82 participants were analyzed using SPSS version 21.Results: EPDS screened 35/82 (43 %) eligible antenatal attendees as depressed, out of which 16/35 (20 %) were severely depressed and 19/35 (23 %) were moderately depressed. Incidence of poor maternal dietary intake was more in females with antenatal depression. Antenatal depression increased the risk of poor Healthy Eating Index (RR = 2.58, C.I 1.60-5.23, AR = 62 %), carbohydrate <175 gm (RR = 1.188, CI 0.836-1.688, AR = 15 %), protein <71 gm (RR = 1.343, CI 1.059-1.703, AR = 26 %) and fat <55 gm (RR = 2.954, CI 1.612-5.416, AR = 67 %) Incidence of neonatal outcomes included, Fetal Growth Retardation (RR = 2.70, C.I 0.69-3.70, AR = 60 %), preterm birth (RR = 1.60, C.I 0.72-2.45, AR = 54 %), low Apgar score (RR = 2.70, C.I 0.69-3.70, AR = 60 %) and Low Birth Weight (RR = 0.56, C.I 0.93-1.39, AR = -44 %).Conclusion: Antenatal women with depression developed poor dietary intake and had increased incidence of Fetal Growth Retardation, preterm birth and low Apgar score, but not of Low Birth Weight. [ABSTRACT FROM AUTHOR]

The aim of the study was to determine the incidence of psychological distress among expectant women carrying fetuses with prenatal diagnosed abnormalities and their partners. A 2-year retrospective medical chart review was completed of 1032 expectant mothers carrying fetuses with a confirmed anomaly, and 788 expectant fathers, who completed the CFDT Mental Health Screening Tool. Furthermore, 19.3 % of women and 13.1 % of men reported significant post-traumatic stress symptoms, and 14 % of men and 23 % of women scored positive for a major depressive disorder. Higher risk was noted among expectant parents of younger age and minority racial/ethnic status, and women with post-college level education and current or prior use of antidepressant medications. Heightened distress was noted within fetal diagnostic subgroups including neck masses, sacrococcygeal teratomas, neurological defects, and miscellaneous diagnoses. Incorporating screening tools into prenatal practice can help clinicians better identify the potential risk for psychological distress among expectant parents within high-risk fetal settings. [ABSTRACT FROM AUTHOR]

Objective: To examine trends in the incidence and method of invasive prenatal diagnosis due to the impact of sequential screening and noninvasive prenatal testing.Methods: This is a retrospective review of all pregnancies that have undergone invasive prenatal diagnostic testing between June 2002 and June 2014, divided in 3 periods: period 1 from June 2002 to October 2006, period 2 from November 2006 to December 2011, and period 3 from January 2012 to June 2014. The main outcome measures were trends in the incidence and method of each procedure.Results: There were 88,135 deliveries and 6,080 invasive procedures during the study period. In period 1, 2,755 (8.8%) procedures were carried out, in period 2 2,820 (7.3%), and in period 3 505 (2.5%; p < 0.01). In period 1, there were 1,990 (6.3%) cases of amniocentesis, 1,646 (4.3%) in period 2, and 254 (1.2%) in period 3 (p < 0.01). In addition, in 765 (2.5%) cases, chorionic villus sampling (CVS) was performed in period 1, compared to 1,174 (3.0%) cases in period 2 and 251 (1.3%) cases in period 3 (p < 0.01). Advanced maternal age as the sole indication for invasive procedures decreased significantly over time, while the indication of abnormal serum screening and abnormal ultrasound findings increased (p < 0.01).Conclusion: There was a significant decline in the incidence of invasive prenatal testing over the 12 years of the study. The decrease in amniocentesis was more marked than that in CVS. [ABSTRACT FROM AUTHOR]

Introduction: Antenatal anemia is a major public health problem in the UK, yet there is limited high quality evidence for associated poor clinical outcomes. The objectives of this study were to estimate the incidence and clinical outcomes of antenatal anemia in a Scottish population.Material and Methods: A retrospective cohort study of 80 422 singleton pregnancies was conducted using data from the Aberdeen Maternal and Neonatal Databank between 1995 and 2012. Antenatal anemia was defined as haemoglobin ≤ 10 g/dl during pregnancy. Incidence was calculated with 95% confidence intervals and compared over time using a chi-squared test for trend. Multivariable logistic regression was used to adjust for confounding variables. Results are presented as adjusted odds ratios with 95% confidence interval.Results: The overall incidence of antenatal anemia was 9.3 cases/100 singleton pregnancies (95% confidence interval 9.1-9.5), decreasing from 16.9/100 to 4.1/100 singleton pregnancies between 1995 and 2012 (p < 0.001). Maternal anemia was associated with antepartum hemorrhage (adjusted odds ratio 1.26, 95% confidence interval 1.17-1.36), postpartum infection (adjusted odds ratio 1.89, 95% confidence interval 1.39-2.57), transfusion (adjusted odds ratio 1.87, 95% confidence interval 1.65-2.13) and stillbirth (adjusted odds ratio 1.42, 95% confidence interval 1.04-1.94), reduced odds of postpartum hemorrhage (adjusted odds ratio 0.92, 95% confidence interval 0.86-0.98) and low birthweight (adjusted odds ratio 0.77, 95% confidence interval 0.69-0.86). No other outcomes were statistically significant.Conclusions: This study shows the incidence of antenatal anemia is decreasing steadily within this Scottish population. However, given that anemia is a readily correctable risk factor for major causes of morbidity and mortality in the UK, further work is required to investigate appropriate preventive measures. [ABSTRACT FROM AUTHOR]

Unlabelled: Congenital anomalies of the kidney and urinary tract are common findings on fetal ultrasound. The aim of this prospective observational study was to describe outcome and risk factors in 115 patients born 1995-2001. All prenatally diagnosed children were stratified into low- and high-risk group and followed postnatally clinically and by imaging at defined endpoints. Risk factors were evaluated using odds ratios. Neonatal diagnosis included pelvi-ureteric junction obstruction (n = 33), vesicoureteral reflux (n = 27), solitary mild pelvic dilatation (postnatal anteroposterior diameter 5-10 mm; n = 25), and further diagnosis as primary obstructive megaureter, unilateral multicystic dysplastic kidney, renal dysplasia and posterior urethral valves. In 38 children with prenatal isolated hydronephrosis, ultrasound normalized at median age of 1.2 years (range 0.1-9). Surgery was performed in 34 children at median age of 0.4 years (0.1-10.8). Persistent renal anomalies without surgery were present in 43 children and followed in 36 for median time of 16 years (12.2-18). Oligohydramnios and postnatal bilateral anomalies were significantly associated with surgery and impaired renal function.Conclusion: The majority of children had a favourable postnatal outcome, in particular children with prenatally low risk, i.e. isolated uni- or bilateral hydronephrosis. Oligohydramnios and postnatal bilateral anomalies were risk factors for non-favourable outcome.What Is Known: • In congenital anomalies of the kidney and urinary tract significantly poorer outcome is known in patients with bilateral renal hypoplasia or solitary kidney associated with posterior urethral valves. • Other factors as proteinuria and vesicoureteral reflux were associated with a higher risk of progression to chronic renal failure in these patients. What is New: • Unlike other studies giving us above-mentioned information, we included all patients with any kind of prenatally diagnosed congenital anomalies of the kidney and urinary tract. Our study shows long-term follow up (median 16 years, range 12.2-18 years), especially in patients not needing surgery, but with persistent anomalies. • During postnatal long-term follow up (median 2.2 years, range 0.1-18 years) one third each showed normalization, need of surgery or persistence of anomalies without need of surgery. Our study revealed a good prognosis in the majority of these children, in particular with prenatally low risk, i.e. isolated uni- or bilateral hydronephrosis, and revealed oligohydramnios and postnatal bilateral anomalies as risk factors for a non-favourable outcome, defined as need of surgery, persistent anomalies with impaired renal function, end stage renal failure or death. [ABSTRACT FROM AUTHOR]

Background: Gestational diabetes mellitus (GDM) is associated with adverse maternal and fetal outcomes, and the oral glucose tolerance test (OGTT) is the recommended test for its diagnosis. We evaluated the role of glycated hemoglobin (HbA1c) in screening and diagnosis of GDM and its correlation with adverse pregnancy outcomes.Subjects and Methods: In this prospective observational study, OGTT and HbA1c were performed in 500 antenatal women between 24 and 28 weeks of gestation; the pregnant women were followed up thereafter. Repeat OGTT and HbA1c were done in women with GDM at 6 weeks postpartum.Results: Among the 500 women, 45 were diagnosed with GDM, for an incidence of 9%. The mean HbA1c level in women with GDM was 6.2 ± 0.6%, whereas it was 5.4 ± 0.5% in those with normoglycemia. Women with GDM had a higher incidence of pregnancy-related complications compared with normoglycemic women. An HbA1c cutoff of 5.3% had a sensitivity of 95.6% and a specificity of 51.6% for the diagnosis of GDM and would have avoided OGTT in approximately half of antenatal women, while missing 5% of the women. However, those with an abnormal HbA1c will require a confirmatory OGTT, as 50% of normoglycemic women would be misclassified as having GDM by this approach. On repeat testing postpartum, two of 45 women (4.4%) had overt diabetes mellitus, whereas five (11.1%) had impaired glucose tolerance.Conclusions: Although HbA1c cannot replace OGTT in the diagnosis of GDM, it can be used as a screening test, avoiding OGTT in approximately 50% of women, if a cutoff of 5.3% is used. [ABSTRACT FROM AUTHOR]

Introduction: Omphalocele and gastroschisis are developmental defects of the anterior abdominal wall, which have only recently been categorized as separate entities. In both cases, it is a herniation of abdominal organs through appropriate defects of the anterior abdominal wall. It is considered that the omphalocele are quite often developmental anomalies and are often associated with other developmental disorders, unlike gastroschisis, which usually occur isolated. Aims of the study: To determine the frequency of cases of omphalocele and gastroschisis in the Clinical Center of Banja Luka in the period from 2000 to 2013. Patients and methods: Insight into medical records, a retrospective analysis of all cases of congenital defects of the anterior abdominal wall at the Clinical Center of Banja Luka was done from the year 2000-2013. The analysis included all cases of omphalocele and gastroschisis, and prematurity, associated anomalies, the rate of mortality in the first year, exposure to environmental factors during pregnancy, maternal diabetes, maternal age, and familiar occurence of these anomalies were taken into consideration. Cases of „the prune belly“ syndrome and umbilical hernia were not included in this research. Results: During the period 2000-2013, there was a total of 19 cases of omphalocele, of which eigth live births. In the same period there was 14 cases of gastroschisis, and there was seven children born alive with this defect. In 73 percent of omphalocele cases there was associated anomalies, while this rate at gastroschisis was significantly lower and amounted to 28 percent. Among the live births, prematurity rate was 37.5 percent for the omphalocele group and 57 percent for the group of gastroschisis. The mortality rate in the first year of life was 25 percent for omphalocele and 14 percent for gastroshisis. In all these cases, the cause of death was not directly related to abdominal defect, but the associated complications (respiratory distress in the first place). Half of the mothers from both groups stated that they had used some medicines or consumed cigarettes during pregnancy. There was also a single incident of gestational diabetes in the group of omphalocele and one case of a positive family history from the gastroschisis group. Discussion: In this study, the relation of omphalocele and gastroshisis was 19/14 or 1.3:1, compared to the expected 3:2 ratio in the world literature. Other studies around the world show a higher incidence of gastroschisis and lower incidence of omphalocele. We had no reported cases of stillbirths in omphalocele group although, in the world literature, data of 11-12 percent were noticed . The reason for this discrepancy could be a different criteria for stillbirth compared to abortion, and perhaps the reporting was biased. The percentage of associated anomalies was higher in group of omphalocele, and similar results were reported in other studies. The mortality rate in thefirst year of life in a group of omphalocele was much higher when compared to gastroschisis group. For unknown reasons, stillborn children with omphalocele were not represented in this study. Conclusion: 33 patients with omphalocele and gastroschisis, treated in this study, confirmed the world's medical reports that the incidence of gastroschisis increased when compared to omphalocele. These statistics should have an impact on the textbooks which still represent omphalocele as a significantly more frequent anomalies. [ABSTRACT FROM AUTHOR]

Résumé Objectif Déterminer l’incidence des anomalies chromosomiques, des associations syndromiques et des malformations fœtales en cas de retard de croissance intra-utérin (RCIU) dans un centre de référence en diagnostic prénatal. Patientes et méthodes Il s’agit d’une revue rétrospective de tous les cas vus entre 14 et 27 SA avec un périmètre abdominal (PA) < 5 e percentile entre 2008 et 2012. Les aneuploïdies et malformations associées étaient recherchées. Les grossesses multiples étaient exclues. Résultats Un total de 8626 fœtus a bénéficié d’un examen échographique entre 14 et 27 SA. Deux cent trente-neuf fœtus (2,8 %) présentaient un RCIU défini par un PA < 5 e percentile. Parmi eux, 37 fœtus avaient un caryotype anormal ou un syndrome identifié (15 %). L’anomalie chromosomique la plus fréquente était la trisomie 18 (10 cas, 4,2 %). Soixante-sept fœtus avaient au moins une anomalie morphologique sans aneuploïdie ou association syndromique (28 %), 135 cas étaient isolés (57 %). Les anomalies associées les plus courantes étaient le fémur court (5 %), l’omphalocèle (5 %) et le laparoschisis (4 %). L’âge maternel était plus élevé (33 ans ± 5 ans versus 31 ans ± 5,6 ans, p < 0,01) et le z-score pour le PA plus bas (2,5 ± 1 versus 2,15 ± 0,6) dans le groupe à caryotype anormal ou association syndromique que dans le groupe sans malformation. Le liquide amniotique était plus souvent augmenté dans le groupe à anomalie du caryotype ou avec malformations associées (14 % et 17 %) que dans le groupe sans malformation (0 %, p < 0,01). Discussion et conclusion Cette étude décrit les anomalies et issues associées au diagnostic de RCIU au 2 e trimestre dans une large population de patientes. Nos résultats suggèrent que l’absence de malformation associée, le degré de retard de croissance, l’âge maternel et la quantité de liquide amniotique peuvent orienter le diagnostic et le conseil anténatal de cette population à haut risque. Objectives To determine the incidence of chromosomal abnormalities, syndromic association and fetal defects associated with second trimester fetal growth restriction (FGR) in a tertiary referral center. Patients and methods Retrospective review of all cases referred between 14 and 27 weeks with an abdominal circumference (AC) < 5 th centile between 2008 and 2012. Multiple pregnancies were excluded. Medical records were retrieved to look for the presence of associated malformations, aneuploidy and outcomes. Results A total of 8626 fetuses had ultrasonographic examination between 14 and 27 weeks. Of these, there were 239 cases (2.8%) with evidence of FGR as based on AC measurement. Thirty-seven fetuses had an abnormal karyotype or an identified syndromic association (15%). The most common chromosomal defect was Trisomy 18 (10 cases, 4.2%), 67 had at least one associated morphological abnormality without aneuploidy or syndromic association (28%). Most common associated abnormalities were relative short femur (5%), omphalocele (5%) and gastroschisis (4%). Last 135 cases were isolated fetal growth retardation (5%). Maternal age was higher (33 yr ± 5 yr versus 31 yr ± 5.6 yr, P < 0.01) and the z-score for the AC lower (2.5 ± 1 versus 2.15 ± 0.6) in the group with abnormal karyotype or syndromic association than in the group without associated malformation. Amniotic fluid was more often increased in the group with an abnormal karyotype or associated malformation (14% and 17%) than in the group without malformations (0%, P < 0.01). Discussion and conclusion This study describes abnormalities and outcomes associated with second trimester fetal growth retardation in a large population of patients. Our results suggest that the absence of associated malformation, degree of growth restriction, maternal age and the amniotic fluid index may help in the prenatal management and counseling of this high risk population. [ABSTRACT FROM AUTHOR]

Abstract: Background: Previous studies of infants with esophageal atresia (EA) suggest those diagnosed prenatally have worse outcomes because of a higher incidence of associated anomalies. The purpose of this study was to compare characteristics and outcomes of infants with EA diagnosed after fetal center evaluation to those diagnosed postnatally. Methods: The records of all neonates treated for EA at our institution from 2002–2012 were reviewed. Infants with a prenatal diagnosis of EA were compared with those postnatally diagnosed using chi-square and Student t-test as appropriate. Results: Of 91 patients treated with EA during the study period, 15 (16%) were diagnosed prenatally at our fetal center. Although those prenatally diagnosed had a higher incidence of pure EA and polyhydramnios, the gestational age and birth weight in that group were similar to those diagnosed postnatally. There were no differences in outcomes between groups with regard to the incidence of major cardiac anomalies, surgical complications, hospital length of stay, and survival. Conclusions: Treatment at a tertiary care center provides excellent outcomes for all infants with EA, despite an 80% frequency of concurrent anomalies. Prenatal diagnosis of EA and attentive obstetric management of polyhydramnios decrease the risk for prematurity and prematurity-associated morbidity. [Copyright &y& Elsevier]

Placental chorioangioma is the most common benign non-trophoblastic tumor of the placenta. It is derived from primitive chorionic mesenchyme and is typically vascular. Placenta chorioangiomas occur in approximately 1% of pregnancies. Most placental chorioangiomas are small and are not clinically important. However, those measuring more than 4-5 cm in diameter may be associated with maternal and fetal complications. Early diagnosis, close prenatal surveillance and appropriate intervention may prevent severe complications and perinatal mortality caused by chorioangioma. Here we review the incidence, prenatal diagnosis, complications, the pathophysiological mechanisms of maternal and fetal complications, and the therapeutic possibilities in pregnancies complicated by placental chorioangiomas. [ABSTRACT FROM AUTHOR]

Omphalocele is an anterior abdominal wall defect with the herniation of the visceral contents covered by a thin membrane. It is one of the most common malformations of the anterior abdominal wall, with high morbidity and mortality. The incidence of omphalocele is nearly 1 in 5,000 live births. Cranirachischisis totalis is anencephaly with a contiguous spinal defect. The defect occurs with the failure of neural tube to close within 28 days after conception and leads to fetal loss, still birth, or neonatal death. Prenatal diagnostic tool for both anomalies is ultrasound. In most cases two-dimensional conventional ultrasound provides sufficient images for the accurate diagnosis. In this report, we present the association of omphalocele and craniorachischisis with the three-dimensional ultrasonographic and post-abortal findings. [ABSTRACT FROM AUTHOR]

Introduction: The incidence of congenital cystic lung lesions has been increasing in recent years due to better antenatal detection. With the introduction and maturation of thoracoscopy, the operative management for these lesions has seen advancement in the last decade. In this study, we aimed to compare the post-operative outcomes of patients who had thoracoscopic resection with those who underwent open resection. Methods: A retrospective review of all patients who underwent surgery for congenital cystic lung lesions between January 1996 and June 2012 in a tertiary referral center was conducted. Patients' demographics, operative procedures and post-operative outcomes were analyzed. Results: Sixty-seven patients were identified over the past 15 years. Thirty-nine patients had thoracoscopic resections and 28 had open resections. Thirteen patients in the thoracoscopic group required conversion. Both groups had similar demographics in terms of age, body weight and laterality of lesions. The mean operative time and blood loss in the two groups were comparable. Patients in the thoracoscopic group had significantly shorter duration of chest tube drainage (4.3 vs. 6.9 days, p = 0.004), shorter intensive care unit stay (2.5 vs. 5.9 days, p = 0.003) and shorter hospital stay (6.9 vs. 12.0 days, p < 0.001). Post-operative complication rate was similar between the two groups. Patients with body weight less than 5 kg showed a significantly higher conversion to open surgery as compared to those with body weight more than 5 kg (62.5 vs. 25.8 %, p = 0.049). Conclusion: Successful thoracoscopic resection for congenital cystic lung lesions results in better post-operative outcomes. However, this technique remains technically challenging in patients with body weight less than 5 kg. [ABSTRACT FROM AUTHOR]

Aim: We investigated trends in early-onset group B streptococcal disease (EOD) after the introduction of culture-based screening in Japan. Material and Methods: A retrospective cohort study examined EOD trends in 9506 pregnancies and 10 715 neonates at our center from 2002 to 2009. Results: EOD occurred in four neonates (4/7332: 0.55/1000 live births). The EOD incidence among infants born to women positive for GBS by screening was 0.90 cases per 1000 live births (1/1107). In contrast, the EOD incidence among infants negative by GBS screening was 0.48 cases per 1000 live births (3/6225). Thus, of the four affected neonates, three had mothers who tested negative on antepartum GBS screening. Two neonates had symptoms of infection during labor and intrapartum antibiotic agents were administered. The other two neonates received no antibiotics because deliveries were uneventful and they were negative on GBS screening. Conclusion: The incidence of EOD is 0.90 cases per 1000 live births among GBS-positive women and 0.48 cases per 1000 live births among GBS-negative women. The results of our study implied that EOD can develop regardless of GBS screening and intrapartum clinical course, although the method of sample collection, indications for antibiotic prophylaxis, and the antibiotics regimen should be considered. [ABSTRACT FROM AUTHOR]

The noninvasive prenatal diagnosis of trisomy 21 (Down syndrome) is an actively researched area of prenatal medicine, as this is the most common aneuploidy compatible with life and a major cause of mental retardation. The isolation of intact fetal cells, and most importantly, the successful detection of fetal-origin nucleic acids (cell-free fetal DNA and RNA), in maternal plasma even from the early stages of pregnancy has inspired scientists to develop discriminative genetic markers for the prenatal detection of aneuploidy. In the near future, the development of epigenetic fetal-specific markers will possibly allow the universal application of a cell-free fetal DNA-based diagnostic test regardless of the gender of the fetus or its polymorphic status. Other promising approaches rely upon the detection of free placentally derived RNA transcribed from genes located on chromosome 21 and the application of highly sensitive techniques, such as digital polymerase chain reaction and high-throughput shotgun sequencing. However, irrespective of which strategy is selected for isolating or distinguishing fetal genetic material in maternal plasma, the small quantity of fetal origin nucleic acids poses severe technical challenges. In this review article, we present an overview of the current knowledge in the field of noninvasive prenatal assessment of fetuses with Down syndrome and the future perspectives regarding new fetal markers and novel molecular techniques that may eventually be applied in the clinical setting as a valid and safe option for women who opt for noninvasive accurate prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Background: The pre- and postnatal detection rate, incidence, clinical characteristics and outcomes of congenital heart disease (CHD) have been studied in developed countries for many years, but rarely have large-scale studies been reported in Chinese populations. The aim of the present study was to investigate the pre- and postnatal detection rates, incidence, clinical characteristics and outcomes of CHD in a Chinese hospital in order to improve the future screening and treatment of CHD. Methods: Fetuses without risk factors for CHD were screened using basic cardiac ultrasound examination (BCUE). Fetuses with suspected cardiac malformation revealed by BCUE and fetuses with risk factors were screened using extended cardiac ultrasound examination. Outcomes recorded from fetal, neonatal and postmortem records over 4 years (2006-2009) included: therapeutic termination of pregnancy, spontaneous abortions or stillbirths, deaths at birth or in the neonatal period (before 28 days of age), and rate of birth and clinical characteristics of newborns. Results: A total of 34 071 fetuses were screened for CHD during a period of 4 years, of which 173 fetuses were screened for CHD using BCUE and 301 fetuses were screened using extended cardiac ultrasound examination. The incidence of fetal CHD increased from 1.1% in 2006 to 2.4% in 2009 ( P < 0.05), yielding an overall incidence of 1.5% (523/34 071). Of the fetuses with CHD, 48.2% (252/523) died before 28 days of age (including intra-uterine death and termination of pregnancy), 51.8% (271/523) lived more than 28 days and the incidence of live newborns with CHD was 0.80% (271/34071). Conclusions: The prevalence of CHD was quite common in this Chinese hospital. Detailed profiles of CHD suggest that, while training programs in obstetric screening at this hospital were beneficial, prenatal intervention, treatment and care of fetal CHD were inefficient and should be strengthened in China. [ABSTRACT FROM AUTHOR]