Has the introduction of increased genetic prenatal testing affected rates of termination of pregnancy due to fetal abnormality?

OBJECTIVE: Genetic high-resolution analyses and improved diagnostic imaging have impacted the ability to detect fetal disorders. It is unknown if this resulted in an alteration in the number of terminations of pregnancy due to fetal anomalies (TOPFA). The objective was to describe the incidence and indication of TOPFA. METHODS: A descriptive study based on records from the Regional Abortion Council in the Central Denmark Region from 2008 to 2021 consisting of 1895 TOPFA. RESULTS: A consistent incidence of TOPFA was observed, accounting for 0.96% of the total births during that period. When examining fetal indications, there was a small increase in the occurrence of genetic aberrations, primarily caused by deletions, duplications, and single nucleotide variations, whereas the number of chromosomal aberrations remained stable. Of 35.5% of the cases with malformations, the central nervous system was the most affected organ system, followed by malformations of the heart 29.6%. Overall, the total number of cases remained stable. DISCUSSION AND CONCLUSION: Unexpectedly, despite the development of new diagnostic tools, the incidence of TOPFA from 2008 to 2021 remained stable. However, the number of cases with genetic aberrations increased. This may be attributed to increased genetic testing for fetuses with identified malformations, resulting in more accurate diagnoses.

National registry of thoracoamniotic shunting using a double-basket catheter: A post-marketing surveillance registry of 295 patients with fetal hydrothorax.

OBJECTIVE: We report on the 1-year outcomes of fetuses who underwent thoracoamniotic shunting (TAS) with a double-basket catheter for fetal hydrothorax (FHT) using a national post-marketing surveillance registry. METHODS: This surveillance study was conducted for cases enrolled between 2011 and 2019. Preoperative, operative, and postoperative findings and outcomes had to be reported through the national surveillance website. RESULTS: Forty-three institutes enrolled 295 patients. In 60 patients, associated abnormalities were diagnosed after birth. Among the 235 patients with isolated hydrothorax, the survival rate at 1 year of age was 70.5%. Among these patients, 89% did not require oxygen or other respiratory support. The 1-year survival rate in complicated cases was 27%. Trisomy 21 was the most common associated problem (40%). Catheter associated problems, including dislocation (25%), obstruction (24%), and preterm rupture of the membranes (6%) were observed, but there were no severe maternal complications. TAS before 29.5 weeks of gestation (odds ratio [OR] 0.16) and skin edema and ascites (OR 0.06) were risk factors for death at one year, whereas appropriate shunt location for >28 days (OR 4.2) was a protective factor. CONCLUSION: We report a favorable survival rate in fetuses with isolated FHT treated with this double-basket catheter.

Association Between Maternal Body Mass Index and Fetal Acidosis in Term Twin Pregnancies: A Retrospective Cohort Study.

OBJECTIVES: Given the increased risk of fetal acidosis in singleton neonates born to pregnant people with an elevated BMI, our objective was to evaluate the association between pre-pregnancy/first-trimester BMI and fetal acidosis among term twin pregnancies. METHODS: Retrospective study of pregnant people with twin gestation and their term infants admitted to our centre between 2014 and 2019. Using a generalized estimating equation, the association between maternal BMI and fetal acidosis was determined using odds ratios (ORs) with 95% CIs. A two-sided P < 0.05 was considered significant. RESULTS: A total of 275 pregnant people and 550 infants were analyzed. The number (%) of pregnancies in each BMI class were 10 (4%) underweight, 155 (56%) normal weight, 66 (24%) overweight, 22 (8%) class I, 9 (3%) class II, and 13 (5%) class III. The prevalence of maternal diabetes and hypertension was highest in class III (31%) and class II (44%), respectively. Fetal acidosis was diagnosed in 35 (6%) infants. After adjusting for confounders (maternal age, diabetes, and hypertension), infants born to those with elevated BMI did not have increased odds of fetal acidosis compared to those born to underweight and normal weight group (OR 1.29; 95% CI 0.38-4.41 for class I, P = 0.67 and OR 2.80; 95% CI 0.62-12.62 for the combined classes II and III, P = 0.18). CONCLUSIONS: Maternal BMI was not associated with fetal acidosis in term twin pregnancies. Further research is required to corroborate study findings due to small sample size.

Zika Virus Disease and Pregnancy Outcomes in Colombia.

BACKGROUND: In 2015 and 2016, Colombia had a widespread outbreak of Zika virus. Data from two national population-based surveillance systems for symptomatic Zika virus disease (ZVD) and birth defects provided complementary information on the effect of the Zika virus outbreak on pregnancies and infant outcomes. METHODS: We collected national surveillance data regarding cases of pregnant women with ZVD that were reported during the period from June 2015 through July 2016. The presence of Zika virus RNA was identified in a subgroup of these women on real-time reverse-transcriptase-polymerase-chain-reaction (rRT-PCR) assay. Brain or eye defects in infants and fetuses and other adverse pregnancy outcomes were identified among the women who had laboratory-confirmed ZVD and for whom data were available regarding pregnancy outcomes. We compared the nationwide prevalence of brain and eye defects during the outbreak with the prevalence both before and after the outbreak period. RESULTS: Of 18,117 pregnant women with ZVD, the presence of Zika virus was confirmed in 5926 (33%) on rRT-PCR. Of the 5673 pregnancies with laboratory-confirmed ZVD for which outcomes had been reported, 93 infants or fetuses (2%) had brain or eye defects. The incidence of brain or eye defects was higher among pregnancies in which the mother had an onset of ZVD symptoms in the first trimester than in those with an onset during the second or third trimester (3% vs. 1%). A total of 172 of 5673 pregnancies (3%) resulted in pregnancy loss; after the exclusion of pregnancies affected by birth defects, 409 of 5426 (8%) resulted in preterm birth and 333 of 5426 (6%) in low birth weight. The prevalence of brain or eye defects during the outbreak was 13 per 10,000 live births, as compared with a prevalence of 8 per 10,000 live births before the outbreak and 11 per 10,000 live births after the outbreak. CONCLUSIONS: In pregnant women with laboratory-confirmed ZVD, brain or eye defects in infants or fetuses were more common during the Zika virus outbreak than during the periods immediately before and after the outbreak. The frequency of such defects was increased among women with a symptom onset early in pregnancy. (Funded by the Colombian Instituto Nacional de Salud and the Centers for Disease Control and Prevention.).

Abnormal fetal heart rate patterns caused by pathophysiologic processes other than fetal acidemia.

Fetal acidemia is a common final pathway to fetal death, and in many cases, to fetal central nervous system injury. However, certain fetal pathophysiological processes are associated with significant category II or category III fetal heart rate changes before the development of or in the absence of fetal acidemia. The most frequent of these processes include fetal infection and/or inflammation, anemia, fetal congenital heart disease, and fetal central nervous system injury. In the presence of significant category II or category III fetal heart rate patterns, clinicians should consider the possibility of the aforementioned fetal processes depending on the clinical circumstances. The common characteristic of these pathophysiological processes is that their associated fetal heart rate patterns are linked to increased adverse neonatal outcomes despite the absence of acidemia at birth. Therefore, in these cases, the fetal heart rate patterns may provide more insight about the fetal condition and pathophysiology than the acid-base status at birth. In addition, as successful timing of intrapartum interventions on the basis of evolution of fetal heart rate patterns aims to prevent fetal acidemia, it may not be logical to continue to use the fetal acid-base status at birth as the gold standard outcome to determine the predictive ability of category II or III fetal heart rate patterns. A more reasonable approach may be to use the umbilical cord blood acid-base status at birth as the gold standard for determining the appropriateness of the timing of our interventions.

Prenatal predictors of adverse perinatal outcome in congenital cytomegalovirus infection: a retrospective multicenter study.

OBJECTIVES: To identify predictors of adverse perinatal outcome in congenital cytomegalovirus (CMV) infection. METHODS: In a multicenter study fetuses with congenital CMV infection diagnosed by PCR on amniotic fluid and normal prenatal imaging at the time of diagnosis were included. Primary outcome was the occurrence of structural anomalies at follow-up ultrasound or prenatal magnetic resonance imaging (MRI). Secondary outcomes were the occurrence of anomalies detected exclusively postnatally and the rate of symptomatic infection. RESULTS: One hundred and four fetuses with congenital CMV were included in the study. Anomalies were detected at follow-up ultrasound or MRI in 18.3% (19/104) cases. Additional anomalies were found after birth in 11.9% (10/84) of cases and 15.5% (13/85) of newborns showed clinical symptoms related to CMV infection. There was no difference in either maternal age (p=0.3), trimester (p=0.4) of infection and prenatal therapy (p=0.4) between fetuses with or whiteout anomalies at follow-up. Conversely, median viral load in the amniotic fluid was higher in fetuses with additional anomalies at follow-up (p=0.02) compared to those without. At multivariate logistic regression analysis, high viral load in the amniotic fluid, defined as ≥100,000 copies/mL was the only independent predictor for the occurrence of anomalies detected exclusively at follow-up ultrasound assessment or MRI, with an OR of 3.12. CONCLUSIONS: Viral load in the amniotic fluid is a strong predictor of adverse perinatal outcome in congenital CMV infection. The results of this study emphasize the importance of adequate follow up even in case of negative neurosonography to better predict postnatal adverse outcomes of infected newborns, especially in amniotic fluid high viral load.

Implications of fetal premature atrial contractions: systematic review.

OBJECTIVE: Fetal heart-rate irregularities occur in 1-2% of pregnancies and are usually caused by premature atrial contractions (PAC). Although PAC are considered benign, they may be associated with cardiac defects and tachyarrhythmia. We aimed to determine the incidence of congenital heart defects (CHDs) and complications in fetuses with PAC. METHODS: This was a systematic review and meta-analysis conducted in accordance with the PRISMA statement for reporting items for systematic reviews and meta-analyses. MEDLINE and EMBASE were searched from 1990 to June 2021 to identify studies on fetuses with PAC. The primary outcome was CHD; secondary outcomes were complications using the endpoints supraventricular tachyarrhythmia (SVT), cardiac failure and intrauterine fetal demise. Meta-analysis of proportions was performed, subdivided into high-risk and low-risk populations based on reason for referral. Pooled incidences with 95% CIs were calculated. RESULTS: Of 2443 unique articles identified, 19 cohort studies including 2260 fetuses were included. The pooled incidence of CHD in fetuses with PAC was 2.8% (95% CI, 1.5-4.1%), when 0.6% is the incidence expected in the general population. The pooled incidence of CHD was 7.2% (95% CI, 3.5-10.9%) in the high-risk population and 0.9% (95% CI, 0.0-2.0%) in the low-risk population. SVT occurred in 1.4% (95% CI, 0.6-3.4%) of fetuses diagnosed with PAC. Cardiac failure was described in 16 fetuses (1.4% (95% CI, 0.5-3.5%)), of which eight were CHD-related. Intrauterine fetal demise occurred in four fetuses (0.9% (95% CI, 0.5-1.7%)) and was related to CHD in two cases. CONCLUSIONS: Our findings suggest that the risk of CHD in fetuses with PAC is 4-5 times higher than that in the general population. CHD was present more frequently in the high-risk population. Consequently, an advanced ultrasound examination to diagnose PAC correctly and exclude CHD is recommended. Complications of PAC are rare but can result in fetal demise, thus weekly fetal heart-rate monitoring remains advisable to enable early detection of SVT and to prevent cardiac failure. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Fetal congenital heart disease - mode of delivery and obstetrical complications.

BACKGROUND: The optimal mode of delivery in cases of fetal congenital heart disease (CHD) is not established. The few relevant studies did not address operative vaginal delivery. The aim of this study was to assess the impact of fetal CHD on mode of delivery during a trial of labor, and to secondarily describe some obstetric complications. METHODS: The database of a tertiary medical center was searched for women who gave birth to a singleton, liveborn neonate in 2015-2018. Mode of delivery was compared between women carrying a fetus with known CHD and women with a healthy fetus matched 1:5 for maternal age, parity, body mass index, and gestational age. RESULTS: The cohort included 616 women, 105 in the CHD group and 511 in the control group. The rate of operative vaginal delivery was significantly higher in the CHD group (18.09% vs 9.78%, OR 2.03, 95% CI 1.13-3.63, p = 0.01); the difference remained significant after adjustment for nulliparity and gestational age at delivery (aOR 2.58, 95% CI 1.36-4.9, p < 0.01). There was no difference between the CHD and control group in rate of intrapartum cesarean delivery (9.52% vs 10.76%, respectively, OR 0.97, 95% CI 0.47-1.98, p = 0.93). The most common indication for operative vaginal delivery was non-reassuring fetal heart rate (78.94% vs 64%, respectively). Median birth weight percentile was significantly lower in the CHD group (45th vs 53rd percentile, p = 0.04). CONCLUSIONS: Our findings suggest that operative vaginal delivery, performed mostly because of non-reassuring fetal heart rate, is more common in pregnancies complicated by a prenatal diagnosis of CHD than non-anomalous pregnancies.

Trends in the Prenatal Detection of Major Congenital Heart Disease in Alberta From 2008-2018.

OBJECTIVE: The effect of expanded obstetrical ultrasound cardiac views on the diagnosis of fetal congenital heart disease (CHD) has not been fully examined at a population level. We hypothesized there has been a significant increase in the prenatal detection of CHD in Alberta, particularly for CHD associated with cardiac outflow tract and 3-vessel view abnormalities. METHODS: Using provincial databases, we retrospectively identified all fetuses and infants diagnosed between 2008 and 2018 in Alberta with major CHD requiring surgical intervention within the first postnatal year. We evaluated individual lesions and categorized CHDs into the following groups based on the obstetrical ultrasound cardiac views required for detection: (1) 4-chamber view (e.g., hypoplastic left heart syndrome, Ebstein's anomaly, single ventricle); (2) outflow tract view (e.g., tetralogy of Fallot, d-transposition, truncus arteriosus); (3) 3-vessel or other non-standard cardiac views (e.g., coarctation, anomalous pulmonary veins); and (4) isolated ventricular septal defects using any view. RESULTS: Of 1405 cases of major CHD, 814 (58%) were prenatally diagnosed. Over the study period, prenatal detection increased in all groups, with the greatest increase observed for groups 1 and 2 (75%-88%; P = 0.008 and 56%-79%; P = 0.0002, respectively). Although rates of prenatal detection also increased for groups 3 and 4 (27%-43%; P = 0.007 and 13%-30%; P = 0.04, respectively), fewer than half of the cases in each group were detected prenatally, even in more recent years. CONCLUSIONS: While rates of prenatal detection of CHD have significantly improved during the past decade, many defects with abnormal 3-vessel and non-standard views, as well as isolated ventricular septal defects, still go undetected.

Pregnancy Outcomes after ZIKV Infection in French Territories in the Americas.

BACKGROUND: The risk of congenital neurologic defects related to Zika virus (ZIKV) infection has ranged from 6 to 42% in various reports. The aim of this study was to estimate this risk among pregnant women with symptomatic ZIKV infection in French territories in the Americas. METHODS: From March 2016 through November 2016, we enrolled in this prospective cohort study pregnant women with symptomatic ZIKV infection that was confirmed by polymerase-chain-reaction (PCR) assay. The analysis included all data collected up to April 27, 2017, the date of the last delivery in the cohort. RESULTS: Among the 555 fetuses and infants in the 546 pregnancies included in the analysis, 28 (5.0%) were not carried to term or were stillborn, and 527 were born alive. Neurologic and ocular defects possibly associated with ZIKV infection were seen in 39 fetuses and infants (7.0%; 95% confidence interval, 5.0 to 9.5); of these, 10 were not carried to term because of termination of pregnancy for medical reasons, 1 was stillborn, and 28 were live-born. Microcephaly (defined as head circumference more than 2 SD below the mean for sex and gestational age) was detected in 32 fetuses and infants (5.8%), of whom 9 (1.6%) had severe microcephaly (more than 3 SD below the mean). Neurologic and ocular defects were more common when ZIKV infection occurred during the first trimester (24 of 189 fetuses and infants [12.7%]) than when it occurred during the second trimester (9 of 252 [3.6%]) or third trimester (6 of 114 [5.3%]) (P=0.001). CONCLUSIONS: Among pregnant women with symptomatic, PCR-confirmed ZIKV infection, birth defects possibly associated with ZIKV infection were present in 7% of fetuses and infants. Defects occurred more frequently in fetuses and infants whose mothers had been infected early in pregnancy. Longer-term follow-up of infants is required to assess any manifestations not detected at birth. (Funded by the French Ministry of Health and others; ClinicalTrials.gov number, NCT02916732 .).

Subclinical in utero Zika virus infection is associated with interferon alpha sequelae and sex-specific molecular brain pathology in asymptomatic porcine offspring.

Zika virus (ZIKV) infection during human pregnancy may lead to severe fetal pathology and debilitating impairments in offspring. However, the majority of infections are subclinical and not associated with evident birth defects. Potentially detrimental life-long health outcomes in asymptomatic offspring evoke high concerns. Thus, animal models addressing sequelae in offspring may provide valuable information. To induce subclinical infection, we inoculated selected porcine fetuses at the mid-stage of development. Inoculation resulted in trans-fetal virus spread and persistent infection in the placenta and fetal membranes for two months. Offspring did not show congenital Zika syndrome (e.g., microcephaly, brain calcifications, congenital clubfoot, arthrogryposis, seizures) or other visible birth defects. However, a month after birth, a portion of offspring exhibited excessive interferon alpha (IFN-α) levels in blood plasma in a regular environment. Most affected offspring also showed dramatic IFN-α shutdown during social stress providing the first evidence for the cumulative impact of prenatal ZIKV exposure and postnatal environmental insult. Other eleven cytokines tested before and after stress were not altered suggesting the specific IFN-α pathology. While brains from offspring did not have histopathology, lesions, and ZIKV, the whole genome expression analysis of the prefrontal cortex revealed profound sex-specific transcriptional changes that most probably was the result of subclinical in utero infection. RNA-seq analysis in the placenta persistently infected with ZIKV provided independent support for the sex-specific pattern of in utero-acquired transcriptional responses. Collectively, our results provide strong evidence that two hallmarks of fetal ZIKV infection, altered type I IFN response and molecular brain pathology can persist after birth in offspring in the absence of congenital Zika syndrome.

Patterns of discordant growth and adverse neonatal outcomes in twins.

BACKGROUND: Intertwin size discordance is an independent risk factor for adverse neonatal outcomes in twin pregnancies. However, size discordance at a given point in gestation fails to take into consideration information, such as the timing of onset and the rate of progression of discordance, that may be of prognostic value. OBJECTIVE: In this study, we aimed to identify distinct patterns of discordant fetal growth in twin pregnancies and to determine whether these patterns are predictive of adverse pregnancy outcomes. STUDY DESIGN: This was a retrospective cohort study of women with twin pregnancies in a single tertiary referral center between January 2011 and April 2020, who had at least 3 ultrasound examinations during pregnancy that included assessment of fetal biometry. Size discordance was calculated at each ultrasound examination, and pregnancies were classified into 1 of 4 predetermined patterns based on the timing of onset and the progression of discordance: pattern 1, no significant discordance group (referent); pattern 2, early (<24 weeks' gestation) progressive discordance group; pattern 3, early discordance with plateau group; or pattern 4, late (≥24 weeks' gestation) discordance group. The associations of discordance pattern (using pattern 1 as referent) with preterm birth, preeclampsia, size discordance at birth, and birthweight<10th percentile were expressed as adjusted relative risk with 95% confidence intervals and were compared with those observed for a single measurement of size discordance at 32 weeks' gestation. RESULTS: Of 2075 women with a twin gestation who were identified during the study period, 1059 met the study criteria. Of the 1059 women, 599 (57%) were classified as no significant discordance (pattern 1), 23 (2%) as early progressive discordance (pattern 2), 160 (15%) as early discordance with plateau (pattern 3), and 277 (26%) as late discordance (pattern 4). The associations of discordance pattern with preterm birth at <34 weeks' gestation and preeclampsia were strongest for pattern 2 (rates of 43% [adjusted relative risk, 3.43; 95% confidence interval, 2.10-5.62] and 17% [adjusted relative risk, 5.81; 95% confidence interval, 2.31-14.60], respectively), intermediate for pattern 3 (rates of 23% [adjusted relative risk, 1.82; 95% confidence interval, 1.28-2.59] and 6% [adjusted relative risk, 2.08; 95% confidence interval, 1.01-4.43], respectively), and weakest for pattern 4 (rates of 12% [adjusted relative risk, 0.96; 95% confidence interval, 0.65-1.42] and 4% [adjusted relative risk, 1.41; 0.68-2.92], respectively). In contrast, a single measurement of size discordance at 32 weeks' gestation showed no association with preeclampsia and only a weak association with preterm birth at <34 weeks' gestation. CONCLUSION: We identified 4 distinct discordance growth patterns among twins that demonstrated a dose-response relationship with adverse outcomes and seemed to be more informative than a single measurement of size discordance.

Stillbirth and fetal anomalies: secondary analysis of a case-control study.

OBJECTIVE: Approximately 10% of stillbirths are attributed to fetal anomalies, but anomalies are also common in live births. We aimed to assess the relationship between anomalies, by system and stillbirth. DESIGN: Secondary analysis of a prospective, case-control study. SETTING: Multicentre, 59 hospitals in five regional catchment areas in the USA. POPULATION OR SAMPLE: All stillbirths and representative live birth controls. METHODS: Standardised postmortem examinations performed in stillbirths, medical record abstraction for stillbirths and live births. MAIN OUTCOME MEASURES: Incidence of major anomalies, by type, compared between stillbirths and live births with univariable and multivariable analyses using weighted analysis to account for study design and differential consent. RESULTS: Of 465 singleton stillbirths included, 23.4% had one or more major anomalies compared with 4.3% of 1871 live births. Having an anomaly increased the odds of stillbirth; an increasing number of anomalies was more highly associated with stillbirth. Regardless of organ system affected, the presence of an anomaly increased the odds of stillbirth. These relationships remained significant if stillbirths with known genetic abnormalities were excluded. After multivariable analyses, the adjusted odds ratio (aOR) of stillbirth for any anomaly was 4.33 (95% CI 2.80-6.70) and the systems most strongly associated with stillbirth were cystic hygroma (aOR 29.97, 95% CI 5.85-153.57), and thoracic (aOR16.18, 95% CI 4.30-60.94) and craniofacial (aOR 35.25, 95% CI 9.22-134.68) systems. CONCLUSIONS: In pregnancies affected by anomalies, the odds of stillbirth are higher with increasing numbers of anomalies. Anomalies of nearly any organ system increased the odds of stillbirth even when adjusting for gestational age and maternal race. TWEETABLE ABSTRACT: Stillbirth risk increases with anomalies of nearly any organ system and with number of anomalies seen.

How often do we identify fetal abnormalities during routine third-trimester ultrasound? A systematic review and meta-analysis.

BACKGROUND: Routine third-trimester ultrasound is frequently offered to pregnant women to identify fetuses with abnormal growth. Infrequently, a congenital anomaly is incidentally detected. OBJECTIVE: To establish the prevalence and type of fetal anomalies detected during routine third-trimester scans using a systematic review and meta-analysis. SEARCH STRATEGY: Electronic databases (MEDLINE, Embase and the Cochrane library) from inception until August 2019. SELECTION CRITERIA: Population-based studies (randomised control trials, prospective and retrospective cohorts) reporting abnormalities detected at the routine third-trimester ultrasound performed in unselected populations with prior screening. Case reports, case series, case-control studies and reviews without original data were excluded. DATA COLLECTION AND ANALYSIS: Prevalence and type of anomalies detected in the third trimester. We calculated pooled prevalence as the number of anomalies per 1000 scans with 95% confidence intervals. Publication bias was assessed. MAIN RESULTS: The literature search identified 9594 citations: 13 studies were eligible representing 141 717 women; 643 were diagnosed with an unexpected abnormality. The pooled prevalence of a new abnormality diagnosed was 3.68 per 1000 women scanned (95% CI 2.72-4.78). The largest groups of abnormalities were urogenital (55%), central nervous system abnormalities (18%) and cardiac abnormalities (14%). CONCLUSION: Combining data from 13 studies and over 140 000 women, we show that during routine third-trimester ultrasound, an incidental fetal anomaly will be found in about 1 in 300 scanned women. This information should be taken into account when taking consent from women for third-trimester ultrasound and when designing and assessing cost of third-trimester ultrasound screening programmes. TWEETABLE ABSTRACT: One in 300 women attending a third-trimester scan will have a finding of a fetal abnormality.

Perinatal outcome and prognostic factors of fetal megacystis diagnosed at 11-14 week's gestation.

OBJECTIVES: To evaluate aneuploidy rate, prognostic factors, and perinatal outcomes following a diagnosis of fetal megacystis at 11-14 week's gestation. METHODS: A retrospective study of first trimester fetal megacystis from 2010 to 2020 was performed, including ultrasound finding, perinatal outcomes, pathology reports, genetic tests, and neonatal investigations. RESULTS: A total of 98 cases of first trimester fetal megacystis was identified with an overall aneuploidy rate of 12%. There were 54% live births and 46% fetal losses including spontaneous fetal demise and elective termination. Among the 45 fetal losses, 64% had additional structural abnormalities at index ultrasound and final diagnoses were achievable in 64% cases. Among the 53 livebirths, additional ultrasound abnormalities were detected in only 1 fetus and spontaneous resolution of megacystis was detected in 96% of cases. The two cases where fetal megacystis persisted had major postnatal diagnoses: cloacal malformation and megacystis-microcolon-intestinal hypoperistalsis syndrome, respectively. Our data showed LBD ≥ 12 mm was the best individual predictor of adverse perinatal outcome and all 11 cases of lower urinary tract obstruction (LUTO) were diagnosed in fetuses with LBD ≥ 12 mm. CONCLUSIONS: First trimester ultrasound provides important prognostic factors and isolated megacystis <12 mm is associated with a positive outcome.

Maternal sociodemographic characteristics, early pregnancy behaviours, and livebirth outcomes as congenital heart defects risk factors - Northern Ireland 2010-2014.

BACKGROUND: Congenital Heart Defects (CHD) is the most commonly occurring congenital anomaly in Europe and a major paediatric health care concern. Investigations are needed to enable identification of CHD risk factors as studies have given conflicting results. This study aim was to identify maternal sociodemographic characteristics, behaviours, and birth outcomes as risk factors for CHD. This was a population based, data linkage cohort study using anonymised data from Northern Ireland (NI) covering the period 2010-2014. The study cohort composed of 94,067 live births with an outcome of 1162 cases of CHD using the International Statistical Classification of Diseases and Related Health Problems (ICD)-10 codes and based on the European Surveillance of Congenital Anomalies (EUROCAT) grouping system for CHD. CHD cases were obtained from the HeartSuite database (HSD) at the Royal Belfast Hospital for Sick Children (RBHSC), maternal data were extracted from the Northern Ireland Maternity System (NIMATS), and medication data were extracted from the Enhanced Prescribing Database (EPD). STATA version 14 was used for the statistical analysis in this study, Odds Ratio (OR), 95% Confident intervals (CI), P value, and logistic regression were used in the analysis. Ethical approval was granted from the National Health Service (NHS) Research Ethics Committee. RESULT: In this study, a number of potential risk factors were assessed for statistically significant association with CHD, however only certain risk factors demonstrated a statistically significant association with CHD which included: gestational age at first booking (AOR = 1.21; 95% CI = 1.04-1.41; P < 0.05), family history of CHD or congenital abnormalities and syndromes (AOR = 4.14; 95% CI = 2.47-6.96; P < 0.05), woman's smoking in pregnancy (AOR = 1.22; 95% CI = 1.04-1.43; P < 0.05), preterm birth (AOR = 3.01; 95% CI = 2.44-3.01; P < 0.05), multiple births (AOR = 1.89; 95% CI = 1.58-2.60; P < 0.05), history of abortion (AOR = 1.12; 95% CI = 1.03-1.28; P < 0.05), small for gestational age (SGA) (AOR = 1.44; 95% CI = 1.22-1.78; P < 0.05), and low birth weight (LBW) (AOR = 3.10; 95% CI = 2.22-3.55; P < 0.05). Prescriptions and redemptions of antidiabetic (AOR = 2.68; 95% CI = 1.85-3.98; P < 0.05), antiepileptic (AOR = 1.77; 95% CI = 1.10-2.81; P < 0.05), and dihydrofolate reductase inhibitors (DHFRI) (AOR = 2.13; 95% CI = 1.17-5.85; P < 0.05) in early pregnancy also showed evidence of statistically significant association with CHD. CONCLUSION: The results of this study suggested that there are certain maternal sociodemographic characteristics, behaviours and birth outcomes that are statistically significantly associated with higher risk of CHD. Appropriate prevention policy to target groups with higher risk for CHD may help to reduce CHD prevalence. These results are important for policy makers, obstetricians, cardiologists, paediatricians, midwives and the public.

Prenatal detection of congenital heart disease - results of a Swedish screening program 2013-2017.

BACKGROUND: This report evaluates results of a screening program on prenatal detection of congenital heart defects in a geographical cohort of western Sweden between January 1st, 2013 and June 31st, 2017. During the study period 88,230 children were born in VGR. METHODS: Retrospective data on pregnant women from the Västra Götaland region that were referred to fetal cardiologists in Gothenburg were retrieved. To determine prenatal detection rate, all neonates who underwent surgery or catheter intervention for a critical congenital heart defect born between January 1st, 2014 and December 31st, 2016 were included. The four-chamber view was implemented into the routine scan in 2009 and implementation of the ISUOG guidelines, including the outflow tracts, started in the region in 2015. RESULTS: 113 fetuses received a prenatal diagnosis of a major congenital heart defect. 89% of these were referred because of a suspected cardiac malformation and 88% were diagnosed before 22 completed weeks. 59% of the patients diagnosed before 22 completed weeks opted for termination of pregnancy. During 2014-2016, 61 fetuses had a prenatal diagnosis of a critical congenital heart defect and a further 47 were diagnosed after birth, hence 56% were diagnosed prenatally, 82% for those which had a combination with an extracardiac abnormality and/or chromosomal aberration compared to 50% if an isolated critical congenital heart defect was diagnosed. For single ventricle cardiac defects such as hypoplastic left heart syndrome, double inlet left ventricle and tricuspid atresia, the detection rate was 100%. The detection rate for transposition of the great arteries and coarctation of the aorta was 9 and 18% respectively. CONCLUSIONS: 56% of all fetuses with a critical congenital heart defect were diagnosed prenatally during 2014-2016 and approximately 53% of all major congenital heart defects 2013-2017 as compared to 13.8% in 2009 in the same region. An increased focus towards the fetal heart in the routine scan improved the prenatal detection rate of major congenital heart defects. The detection of congenital heart defects affecting the four-chamber view seems sufficient, but more training is needed to improve the quality of the examination of the outflow tracts.

Intrapartum zigzag pattern of fetal heart rate is an early sign of fetal hypoxia: A large obstetric retrospective cohort study.

INTRODUCTION: The aim of the present study was to identify possible associations of fetal heart rate (FHR) patterns during the last 2 hours of labor with fetal asphyxia expressed by umbilical artery acidemia at birth and with neonatal complications in a large obstetric cohort. MATERIAL AND METHODS: Cardiotocographic recordings from 4988 singleton term childbirths over 1 year were evaluated retrospectively and blinded to the pregnancy and neonatal outcomes in a university teaching hospital in Helsinki, Finland. Umbilical artery pH, base excess and pO2 , low Apgar scores at 5 minutes, need for intubation and resuscitation, early neonatal hypoglycemia, and neonatal encephalopathy were used as outcome variables. According to the severity of the neonatal complications at birth, the cohort was divided into three groups: no complications (Group 1), moderate complications (Group 2) and severe complications (Group 3). RESULTS: Of the 4988 deliveries, the ZigZag pattern (FHR baseline amplitude changes of >25 bpm with a duration of 2-30 minutes) occurred in 11.7%, late decelerations in 41.0%, bradycardia episodes in 52.9%, reduced variability in 36.7%, tachycardia episodes in 13.9% and uterine tachysystole in 4.6%. No case of saltatory pattern (baseline amplitude changes of >25 bpm with a duration of >30 minutes) was observed. The presence of the ZigZag pattern or late decelerations, or both, was associated with cord blood acidemia (odds ratio [OR] 3.3, 95% confidence interval [CI] 2.3-4.7) and severe neonatal complications (Group 3) (OR 3.3, 95% CI 2.4-4.9). In contrast, no significant associations existed between the other FHR patterns and severe neonatal complications. ZigZag pattern preceded late decelerations in 88.7% of the cases. A normal FHR preceded the ZigZag pattern in 90.4% of the cases, whereas after ZigZag episodes, a normal FHR pattern was observed in only 0.9%. CONCLUSIONS: ZigZag pattern and late decelerations during the last 2 hours of labor are significantly associated with cord blood acidemia at birth and neonatal complications. The ZigZag pattern precedes late decelerations, and the fact that normal FHR pattern precedes the ZigZag pattern in the majority of the cases suggests that the ZigZag pattern is an early sign of fetal hypoxia, which emphasizes its clinical importance.

Knowledge of Preconception Healthcare and Associated Factors: A Study among Mothers in Jinka Town, Southern Region, Ethiopia.

BACKGROUND: Preconception healthcare is promising to improve the reproductive health status of women and couples if they receive care three months to two years before conception. In the current context of Ethiopia, however, preconception healthcare is overlooked in the continuum of care. Therefore, this study aimed to assess the knowledge of preconception healthcare and associated factors: a study among mothers in Jinka town, southern region, Ethiopia. METHODS: A community-based cross-sectional study was employed among 522 randomly selected women of childbearing age who are living in Jinka town from March to April 2018. The study considers all the kebeles in the town. Study subjects were determined using proportionate-to-population size allocation. Then, a systematic random sampling technique was applied. Data were collected using a semistructured and pretested questionnaire. Descriptive summary data and binary logistic regression analysis were carried out to identify factors with the 95% confidence level and a p value of less than 0.05. RESULTS: A total of 513 study subjects participated in this study. The overall preconception healthcare knowledge score of women in Jinka town was 51.1%. In the multivariable analysis, housewives (AOR = 2.93; 95% CI: 1.38-6.19), an education level of at least college (AOR = 3.79; 95% CI: 1.75-8.23), no history of neonatal death (AOR = 4.13; 95% CI = 1.39-12.25), and the use of family planning methods (AOR = 2.38; 95% CI: 1.49-3.79) increased the probability of preconception healthcare knowledge compared to the counterparts. CONCLUSION: In this study, women's knowledge of preconception healthcare was found borderline. The identified factors were housewife, education level of at least college, no history of neonatal death, and using family planning methods. Therefore, emphasizing these factors for the enhancement of women's knowledge of preconception healthcare is a necessary step.

Natural History of Congenital Cytomegalovirus Infection in Highly Seropositive Populations.

Maternal preconceptional cytomegalovirus (CMV) immunity does not protect the fetus from acquiring congenital CMV infection (cCMV). Nonprimary infections due to recurrence of latent infections or reinfection with new virus strains during pregnancy can result in fetal infection. Because the prevalence of cCMV increases with increasing maternal CMV seroprevalence, the vast majority of the cases of cCMV throughout the world follow nonprimary maternal infections and is more common in individuals of lower socioeconomic background. Horizontal exposures to persons shedding virus in bodily secretions (young children, sexual activity, household crowding, low income) probably increase the risk of acquisition of an exogenous nonprimary CMV infection and fetal transmission. In addition, more frequent acquisition of new antibody reactivities in transmitter mothers suggest that maternal reinfection by new viral strains could be a major source of congenital infection in such populations. However, the exact frequency of CMV nonprimary infection in seroimmune women during pregnancy and the rate of intrauterine transmission in these women are yet to be defined. Usually, the birth prevalence of cCMV is high (≥7:1000) in highly seropositive populations. There is increasing evidence that the frequency and severity of the clinical and laboratory abnormalities in infants with congenital CMV infection born to mothers with nonprimary CMV infection are similar to infants born after a primary maternal infection. This is particularly true for sensorineural hearing loss, which contributes to one third of all early-onset hearing loss in seropositive populations. This brief overview will discuss the need for more research to better clarify the natural history of cCMV in highly seropositive populations, which, in almost all populations, remains incompletely defined.