Validation of Fetal Medicine Foundation competing-risks model for small-for-gestational-age neonate in early third trimester.

OBJECTIVE: To evaluate the new 36-week Fetal Medicine Foundation (FMF) competing-risks model for the prediction of small-for-gestational age (SGA) at an earlier gestation of 30 + 0 to 34 + 0 weeks. METHODS: This was a retrospective multicenter cohort study of prospectively collected data on 3012 women with a singleton pregnancy undergoing ultrasound examination at 30 + 0 to 34 + 0 weeks' gestation as part of a universal screening program. We used the default FMF competing-risks model for prediction of SGA at 36 weeks' gestation combining maternal factors (age, obstetric and medical history, weight, height, smoking status, race, mode of conception), estimated fetal weight (EFW) and uterine artery pulsatility index (UtA-PI) to calculate risks for different cut-offs of birth-weight percentile and gestational age at delivery. We examined the accuracy of the model by means of discrimination and calibration. RESULTS: The prediction of SGA < 3rd percentile improved with the addition of UtA-PI and with a shorter examination-to-delivery interval. For a 10% false-positive rate, maternal factors, EFW and UtA-PI predicted 88.0%, 74.4% and 72.8% of SGA < 3rd percentile delivered at < 37, < 40 and < 42 weeks' gestation, respectively. The respective values for SGA < 10th percentile were 86.1%, 69.3% and 66.2%. In terms of population stratification, if the biomarkers used are EFW and UtA-PI and the aim is to detect 90% of SGA < 10th percentile, then 10.8% of the population should be scanned within 2 weeks after the initial assessment, an additional 7.2% (total screen-positive rate (SPR), 18.0%) should be scanned within 2-4 weeks after the initial assessment and an additional 11.7% (total SPR, 29.7%) should be examined within 4-6 weeks after the initial assessment. The new model was well calibrated. CONCLUSIONS: The 36-week FMF competing-risks model for SGA is also applicable and accurate at 30 + 0 to 34 + 0 weeks and provides effective risk stratification, especially for cases leading to delivery < 37 weeks of gestation. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Giant uterine STUMP in pregnancy: A rare case report with preservation of fertility.

BACKGROUND: Smooth muscle tumors of uncertain malignant potential (STUMPs) are infrequent and represent an extremely rare cause of oligohydramnios in pregnant women. DESCRIPTION OF THE CASE: A 34-year-old woman at 25 weeks of gestation was referred with clinical features indicative of anemia. The transabdominal ultrasound revealed a fetus with appropriate growth for the gestational age, with oligohydramnios and a giant uterine mass. At 30 weeks of gestation, due to anhydramnios and repeated non-reassuring non-stress tests, a cesarean section was performed, followed by a myomectomy of a 9 kg mass. A neonate weighing 1,350 g was delivered (Apgar score 1΄: 4, 5΄: 7). The woman preserved her fertility and had an uneventful recovery during the puerperium, while the final histology revealed multiple STUMPs. The postoperative management included follow-up every six months for five years. CONCLUSION: This is the only reported case of a pregnant woman with STUMPs of this size that underwent myomectomy during the cesarean section and avoided hysterectomy. HIPPOKRATIA 2021, 25 (4):169-171.

Is nuchal translucency measurement feasible in early pregnancy?

BACKGROUND: To investigate whether early nuchal translucency measurement at 7+0 to 9+0 weeks (NT7-9w) is feasible, obtain normal values for different crown-rump lengths (CRL) in the above weeks and create percentile tables. METHODS: A prospective study was conducted in the Obstetrics and Gynecology Department of the University Hospital of Ioannina, including data from women with singleton pregnancies, examined in the early pregnancy unit between November 2010 and May 2015 at a CRL of 10-27 mm. The early pregnancy scan was performed vaginally, and the NT7-9w, CRL, fetal heart rate, and mean yolk sac diameter were measured. Demographic data, including body mass index and smoking, were recorded. RESULTS: NT7-9w was measured successfully in 192 fetuses out of 210 (91.4 %), with a CRL ranging from 10-27 mm. The median maternal age was 31 (range 18-43) years, and the median CRL was 19.9 (range 10.0-27.0) mm. Considering the above measurements, we created normal values and percentiles tables of NT at 7+0 to 9+0 weeks in relation to the corresponding CRL measurement. CONCLUSION: According to the literature, this is the first attempt to measure NT in such weeks of pregnancy. NT measurement as early as 7+0 to 9+0 is feasible and normal values can be created and correlated with CRL measurements. HIPPOKRATIA 2021, 25 (4):151-155.

Risk of developing metabolic syndrome after gestational diabetes mellitus - a systematic review and meta-analysis.

PURPOSE: A systematic review and meta-analysis were conducted to quantitatively synthesize the current evidence regarding the risk of developing metabolic syndrome (MetS) in women with a personal history of gestational diabetes mellitus (GDM), without pre-existing diabetes, compared with those without a history of GDM. METHODS: Four electronic databases [MEDLINE (via PubMed), Scopus, Cochrane Library, PROSPERO] were searched for relevant literature until July 29th 2020. Cochran's Q test was applied for the assessment of heterogeneity. The random-effects model was applied by calculating the odds ratio (OR) and 95% confidence interval (CI) for each study. Publication bias was estimated with Egger's linear regression test. RESULTS: The results from 23 studies (10,230 pregnant women; 5169 cases, 5061 controls), indicated that women with a history of GDM had a higher risk of developing MetS compared with those without such a history (OR 3.45; 95% CI 2.80-4.25, p < 0.0001). This risk remained higher, independently of maternal age and ethnicity (although the risk was not as high in Asians; OR 2.11; 95% CI 1.27-3.52). The risk of developing MetS was even higher in studies where women with GDM had increased body mass index (BMI) compared with the controls (OR 4.14; 95% CI 3.18-5.38). CONCLUSIONS: The risk for developing MetS following delivery is higher in women with a history of GDM compared with women without such a history. Timely recognition and appropriate intervention are critical to halt progression to MetS and its associated morbidity.

Does first-trimester nuchal cord affect the blood flow in the ductus venosus? A prospective observational study.

INTRODUCTION: Main objective of the present study was to investigate the association between the presence of nuchal cord (NC) and the measurement of the ductus venosus pulsatility index for veins (ductus venosus (DV) PIV). METHODS: This was a prospective study of 1974 singleton pregnancies that underwent first-trimester screening at 11-13+6 gestational weeks. Color Doppler was used to demonstrate the presence of a NC in all cases and the DV PIV was calculated routinely, as part of the standard scan. The association between the presence of a NC and the DV PIV was then examined overall and at each gestational week. RESULTS: A NC was demonstrated in 17.1% of cases. The incidence of nuchal cord was significantly higher at 13-13+6 weeks (24.7%, n = 119) compared to the one at 12-12+6 (16.5%, n = 192) and 11-11+6 weeks (7.9%, n = 26) (p < .001). No significant correlation was found between NC presence and DV PIV (p = .344). The DV PIV was 0.99 (± 0.15) for patients without NC versus 0.99 (± 0.15) for patients with NC (p = .34). CONCLUSIONS: There was no association between the presence of a NC at 11-13+6 gestational weeks and the DV PIV.

Risks of miscarriage or preterm delivery in trichorionic and dichorionic triplet pregnancies with embryo reduction versus expectant management: a systematic review and meta-analysis.

STUDY QUESTION: Is pregnancy outcome in triplet pregnancies improved with embryo reduction (ER) to twins compared to expectant management? SUMMARY ANSWER: In trichorionic triplet pregnancies, ER to twins reduces the risk of preterm birth (<34 weeks) without significantly increasing the risk of miscarriage (<24 weeks), whereas in dichorionic triplet pregnancies, the results are inconclusive. WHAT IS KNOWN ALREADY: Triplet pregnancies are associated with a high risk of miscarriage and preterm birth. ER can ameliorate these conditions in higher order multiple gestations but is still controversial in triplets. STUDY DESIGN, SIZE, DURATION: This study aimed to conduct a systematic review, following the PRISMA guidelines, and critically appraise ER at 8-14 weeks of gestation in both trichorionic triamniotic (TCTA) and dichorionic triamniotic (DCTA) pregnancies. Selective ER to twins was compared with expectant management, focusing on the risks of miscarriage and preterm birth. The computerized database search was performed on 8 January 2017. Overall, from 25 citations of relevance, eight studies with a total of 249 DCTA and 1167 TCTA pregnancies fulfilled the inclusion criteria. PARTICIPANTS/MATERIALS, SETTING, METHODS: A comprehensive computerized systematic literature search of all English language studies between 2000 and 2016 was performed in PubMed, EMBASE, Scopus, Evidence Based Medicine Reviews (Cochrane Database and Cochrane Central Register of Controlled Trials) and Google Scholar. Relevant article reference lists were hand searched. The management options were compared for rates of miscarriage <24 weeks and preterm birth <34 weeks. Only studies with both expectant management and ER to twins were included in the analysis. The quality of each individual article was critically appraised and appropriate statistical methods were used to extract results. MAIN RESULTS AND THE ROLE OF CHANCE: In TCTA pregnancies managed expectantly (n = 501), the rates of miscarriage and preterm birth were 7.4 and 50.2%, respectively. Meta-analysis demonstrated that ER to twins in TCTA pregnancies (n = 666) was associated with a lower risk (17.3 versus 50.2%) of preterm birth (RR = 0.36, 95% CI: 0.28-0.48), whereas the risk of miscarriage (8.1% versus 7.4%) did not significantly increase (RR = 1.08, 95% CI: 0.58-1.98). In DCTA triplets managed expectantly (n = 200), the rates of miscarriage and preterm birth were 8.5 and 51.9%, respectively. Although the meta-analysis was inconclusive, it suggested that ER to twins in DCTA triplets, either of the foetus with a separate placenta (n = 15) or one of the monochorionic pair (n = 34), was neither significantly associated with an increased risk of miscarriage (8.5 versus 13.3%, P = 0.628 and RR = 1.22, 95% CI: 0.38-3.95, respectively) nor with a lower risk of preterm birth (51.9 versus 46.2%, P = 0.778 and RR = 0.5, 95% CI: 0.04-5.7, respectively). LIMITATIONS, REASONS FOR CAUTION: No randomized controlled trials of ER versus expectant management in TCTA or DCTA pregnancies were identified from our literature search. We were able to include only a handful of papers with small sample sizes and suffering from bias, and non-English publications were missed. Irrespective of the strict inclusion and exclusion criteria, publication bias was evident. WIDER IMPLICATIONS OF THE FINDINGS: The greatest strength of our systematic review is that, contrary to the existing literature, it only included studies with both the intervention and expectant arm. Our results are in agreement with current literature. In TCTA pregnancies, ER to twins is associated with a lower risk of preterm birth but is not associated with a higher risk of miscarriage. In the absence of a randomized trial, the data from systematic reviews appear to be the best existing evidence for counselling in the first trimester on the different options available. Finally, in DCTA pregnancies, indications exist that ER (of one of the MC pair) to twins could possibly reduce the risk of preterm birth without increasing the risk of miscarriage. STUDY FUNDING/COMPETING INTEREST(S): None to declare. REGISTRATION NUMBER: N/A.

Prevalence of illicit drug use among medical students in Northern Greece and association with smoking and alcohol use.

AIM: The aim of this study was to estimate the prevalence of illicit drug use among medical students in Northern Greece, to identify the motivations for cannabis use and also to investigate the possible associations with smoking and alcohol misuse. METHODS: A sample of undergraduate students completed an anonymous, self-administered, web-based survey assessing lifetime and past-year illicit substance use. To further evaluate the motivation to use, the responders were classified into three subtypes (self-medication, recreational, and mixed). The CAGE questionnaire and a question assessing binge drinking were also used. Illicit substance use was correlated with age, gender, study year, CAGE and binge drinking. RESULTS: Five hundred and ninety-one undergraduate medical students completed the survey. The lifetime prevalence of illicit drug use was 24.7 %, while the most used drug was cannabis (22.2 %). The past-month prevalence of cannabis use was 8.1 %. Experimentation was the predominant reported motivation for its use, and the recreational subtype was the most prevalent. Binge drinking behavior was reported by 22.7 % of the sample, and the CAGE screening test was positive for 6.4 % of the students. Most students (80.4 %) characterized themselves as non-smokers. In the multivariate analysis, lifetime use of illicit drugs was significantly correlated with smoking and binge drinking. No associations were found with gender, age, study year or CAGE. CONCLUSION: Smoking and binge drinking were found to be risk factors for illicit drug use, whereas no association was found with gender, age, study year and CAGE. HIPPOKRATIA 2017, 21(1): 13-18.

Leptin increases luteinizing hormone secretion of fasting female rats.

PURPOSE: To investigate whether leptin acts directly on the anterior hypophysis by influencing gonadotropin secretion in vivo. MATERIALS AND METHODS: Cycling female rats were catheterised for frequent blood sampling and were either fasted or allowed free access to food. Stereotactic lesion of the medial preoptic area (MPOA) of the hypothalamus was performed in order to eliminate gonadotropin releasing hormone (GnRH) production. Leptin was administered at a dose of one mg/kg i.v. and blood samples were taken just before leptin administration and then after 30, 60, 90, 120, and 180 minutes. Plasma gonadotropin levels were determined. With completion of sampling, the brains were removed and the localisation of the lesions was verified histologically. RESULTS: Leptin at one mg/kg induced an increase in luteinizing hormone (LH) secretion in fasting rats, both in those with a lesion and those with intact medial preoptic area with a peak occurring 90 minutes after infusion. The augmenting effect was more prominent when the hypothalamus was intact. There was no effect in fed animals with or without lesion. Similarly, no effect was observed on follicle stimulating hormone (FSH) levels in any of the experimental groups. CONCLUSIONS: Leptin acts directly on the hypophysis enhancing LH but not FSH secretion. Nutritional state influences leptin's effect on the hypothalamus and the hypophysis.

Effectiveness of sublingual use of 400 mcg prostaglandin E1 for first trimester surgical abortion according to parity: a retrospective study.

AIM: The aim of this paper was to evaluate the effectiveness of sublingual use of misoprostol in women undergoing first trimester surgical abortion. Special consideration was given in a sub-group analysis according to parity. METHODS: A retrospective study was conducted, enrolling patients during 2006-2009. Pregnancies less than 12 weeks of gestation were exclusively included. Our sample was divided in: group 1, in which we included women who had received 400 mcg of misoprostol sublingually two hours before surgical abortion and group 2, with no use of misoprostol. Cervical dilatation and estimated blood loss (EBL) were compared between the two groups. Moreover, a sub-group analysis of the former parameters was made separately in nulliparous and multiparous women. RESULTS: Out of 79 patients included, 48 (60.75%) received misoprostol, while 31 (39.25%) did not. Cervical dilatation was significantly higher in group 1 (6.4±2.1 mm vs. 4.7±1.7 mm in group 2, P=0.001), while EBL was significantly lower in the same group (105.0±22.1 mL vs. 120.3±24.2 mL for group 2, P=0.005). Concerning the sub-analysis, cervical dilatation was significantly increased and EBL was significantly lower in multiparous receiving misoprostol comparing with those who did not (P=0.001 and P=0.002, respectively). However, the same parameters did not differ significantly between the two sub-groups of nulliparous women. CONCLUSION: Sublingual administration of 400mcg misoprostol is effective concerning cervical ripening and EBL in women undergoing first trimester surgical abortion. According to the results of the present clinical trial prostaglandin E1 is more effective in multiparous group of women.

Amniocentesis-related adverse outcomes according to placental location and risk factors for fetal loss after midtrimester amniocentesis.

PURPOSE OF INVESTIGATION: Amniocentesis-related adverse outcomes in singleton pregnancies and possible risk factors for fetal loss after mid-trimester amniocentesis performed in a single institution were investigated. METHODS: Amniocentesis-related adverse outcomes such as insufficient aspiration of amniotic fluid (AF), repeated puncture, and aspiration of hemorrhagic AF after mid-trimester amniocentesis were reviewed, while special consideration was given according to the placental location. Fetal loss rate up to 24 weeks of gestation and risk factors related to fetal losses were also investigated. RESULTS: 5,948 cases with the inclusion criteria were analyzed. Advanced maternal age was the most common indication (53%) for amniocentesis. A need for repeated puncture was overall 2.1% (n = 128) and was associated with a fundal placental location. Aspiration of hemorrhagic amniotic fluid was observed in 3.7% (n = 222) and was significantly associated with an anterior or fundal placental position. Fetal loss rate was 0.3% and there was no relationship with advanced maternal age (> or = 35 years), gestational age at amniocentesis > 18 weeks, repeated procedure, aspiration of hemorrhagic AF or placental location. CONCLUSION: Anterior or fundal placental position is a risk factor for amniocentesis-related adverse outcomes, however without significant contribution to the fetal losses. Placental location, advanced maternal age, amniocentesis gestational age > 18 weeks, and the procedure's adverse outcomes seem to have no impact on fetal loss rate.

Epidemiological characteristics and trends of caesarean delivery in a University Hospital in Northern Greece.

BACKGROUND: Current obstetric practice is characterised by a continuous increase in caesarean section (CS) delivery rates. OBJECTIVE: Main purpose of our study was to estimate the overall and annual rates of CS in a University Hospital in Greece. METHODS: This was a retrospective chart review of all singleton pregnancies delivered by CS between 2004 and 2008 at a gestational age > 24 weeks. The overall and annual CS rates were calculated. The rate of elective (Group 1) and emergency CS (Group 2) , as well as the specific indications in the two groups of the study were also analyzed. RESULTS: Overall 5362 singleton pregnancies were delivered in the period of the study. The overall CS rate was 29.2% (n = 1564). The mean ±SD maternal age in years of the women delivered by CS was 29.65 ± 6.72 years, while it was 27.10 ±5.63 years for those who delivered vaginally (P<0.0001). The overall rates of elective and emergency CS were 18.2% and 11.0% respectively in the 5-year period of the study. The most common indication for an elective CS was a previous CS (63.1%), which remained almost stable during the period of the study. The main indication for emergency CS was foetal distress in the first three years of the study, while labour progress failure was the leading indication in the last two years. CONCLUSION: In this series, the overall CS rate was high. A previous caesarean delivery accounts for about one third of all cases and constitutes the leading indication for elective CS while foetal distress is the most common indication for an emergency caesarean section.

Isolated single umbilical artery: need for specialist fetal echocardiography?

OBJECTIVE: To examine the association between single umbilical artery (SUA) and cardiac defects and to determine whether patients with SUA require specialist fetal echocardiography. METHODS: Incidence and type of cardiac defects were determined in fetuses with SUA detected at routine second-trimester ultrasound examination. RESULTS: A routine second-trimester scan was performed in 46 272 singleton pregnancies at a median gestation of 22 (range, 18-25) weeks and an SUA was diagnosed in 246 (0.5%). Cardiac defects were diagnosed in 16 (6.5%) of these cases, including 10 (4.3%) in a subgroup of 233 with no other defects and in six (46.2%) of the 13 with multiple defects. In 11 (68.8%) of the 16 cases with cardiac defects the condition was readily diagnosable by evaluating the standard four-chamber view and the views of the great arteries. In the remaining cases there was left persistent superior vena cava or small ventricular septal defect, where prenatal diagnosis may not be important because they are not associated with adverse outcome. CONCLUSION: Although SUA is associated with an increased incidence of cardiac defects it may not be necessary to refer such patients for specialist fetal echocardiography because the defects are detectable by evaluating standard cardiac views that should be part of the routine second-trimester scan.

Isolated single umbilical artery and fetal karyotype.

OBJECTIVE: To determine the need for fetal karyotyping in cases of an isolated single umbilical artery (SUA) identified during the second-trimester routine anomaly scan. METHODS: All patients booked for antenatal care and delivery in our hospital are offered two ultrasound scans in pregnancy, one at 11-13 weeks' gestation as part of screening for chromosomal defects and another at 20-23 weeks for detailed fetal examination. In addition we examine patients referred from other hospitals because of suspected fetal abnormalities during their routine second-trimester scan. We performed a search of the database to retrieve all cases with an SUA and reviewed the ultrasound findings, fetal karyotype and pregnancy outcome. RESULTS: There were 643 cases with SUA, including 424 (65.9%) where the condition was isolated, 133 (20.7%) with one major fetal defect and 86 (13.4%) with multiple defects. The incidence of chromosomal abnormalities was 0% in the isolated SUA group, 3.7% in those with one defect and 50.7% in those with multiple defects. The commonest chromosomal abnormalities were trisomy 18, trisomy 13 and triploidy, which together accounted for 82.9% of cases. CONCLUSION: The finding of an SUA should prompt the sonographer to search for fetal defects and if these are found the risk for chromosomal abnormalities is increased. In cases of apparently isolated SUA there is no evidence of increased risk of chromosomal abnormalities.

Previous cesarean section increases the risk for breech presentation at term pregnancy.

PURPOSE OF INVESTIGATION: The aim of the present study was to estimate the risk for breech presentation in women with singleton pregnancies at-term who had had at least one previous cesarean section (CS) versus at least one previous vaginal delivery. METHODS: Out of 4269 singleton pregnancies during the study period, 2008 met the inclusion criteria. The history, the number of previous CSs, as well as maternal age, parity, birth weight, gestational age, neonatal sex and placenta previa were used to estimate the risk for breech at term. RESULTS: The overall incidence of breech presentation was 3.2%, while 20% of the women had a history of at least one previous CS. The rate of breech presentation at term in singleton pregnancies after CS increased two-fold (5.3%) when compared to those with at least one previous vaginal delivery (2.6%), (p = 0.01) [OR 2.08 (95% CI, 1.23-3.52)], while the number of the previous CSs did not correlate with breech presentation (p = NS) [OR 0.86 (95% CI, 0.31-2.4)]. CONCLUSION: According to the present study, women with a history of at least one cesarean delivery have an increased risk for breech presentation in the subsequent singleton pregnancy at-term.

Heart stroke volume and cardiac output by four-dimensional ultrasound in normal fetuses.

OBJECTIVE: To establish reference intervals for fetal heart stroke volume and cardiac output with gestation. METHODS: Fetal heart ventricular volumes were measured using the four-dimensional (4D) spatiotemporal imaging correlation (STIC) ultrasound technique in 140 normal singleton pregnancies at 12-34 weeks' gestation. The Virtual Organ Computer-aided AnaLysis (VOCAL) technique was used to obtain a sequence of six sections of each ventricular volume in systole and diastole. Each volume was obtained after a 30 degrees rotation from the previous one around a fixed axis extending from the apex of the heart to the point that divides symmetrically each atrioventricular valve. The contour of each ventricle was drawn manually and the 4D volumes of the left and right ventricle in systole and diastole were estimated. The stroke volume for each ventricle was then calculated by subtracting the one in systole from the one in diastole and the cardiac output was calculated by multiplying the stroke volume by the fetal heart rate. In 50 cases the stroke volumes were measured by the same sonographer twice and the intraobserver agreement of measurements was calculated. RESULTS: The left and right stroke volume and cardiac output increased exponentially with gestation, from respective mean values of 0.02 mL, 0.01 mL, 2.39 mL/min and 1.80 mL/min at 12 weeks to 0.30 mL, 0.32 mL, 43.46 mL/min and 46.72 mL/min at 20 weeks, and 2.07 mL, 2.67 mL, 284.71 mL/min and 365.99 mL/min at 34 weeks. The ratio of right to left stroke volume increased significantly with gestation from about 0.97 at 12 weeks to 1.13 at 34 weeks. In the Bland-Altman test, the mean percentage difference and 95% limits of intraobserver agreement for left stroke volume and right stroke volume were - 2.1 (-18.4, 14.2)% and - 0.8 (-16.4, 18.0)%, respectively. CONCLUSIONS: In normal fetuses the stroke volume and cardiac output increase between 12 and 34 weeks' gestation. The extent to which, in pathological pregnancies, possible deviations in these measurements from normal prove to be useful in the prediction of outcome remains to be determined.

Ductus venosus Doppler in fetuses with cardiac defects and increased nuchal translucency thickness.

OBJECTIVE: To examine the possible role of Doppler ultrasound assessment of ductus venosus blood flow in screening for major cardiac defects in chromosomally normal fetuses with increased nuchal translucency (NT) thickness at 11 + 0 to 13 + 6 weeks' gestation. METHODS: Ductus venosus blood flow velocity waveforms were obtained immediately before chorionic villus sampling for fetal karyotyping in fetuses with NT thickness of 3.5 mm or more at 11 + 0 to 13 + 6 weeks of gestation. In the chromosomally normal group fetal echocardiography was performed by a specialist pediatric cardiologist at 11 + 0 to 13 + 6 weeks and/or 18-22 weeks' gestation. RESULTS: Major cardiac defects were diagnosed in 16 (8.4%) of the 191 chromosomally normal fetuses. Reversed or absent flow in the ductus venosus during atrial contraction was observed in 11 of the 16 (68.8%) fetuses with cardiac defects and in 40 of the 175 (22.9%) with no cardiac defects. Multivariate analysis demonstrated that the prevalence of an abnormal A-wave in the ductus venosus in fetuses without major cardiac defects increased with fetal NT thickness (odds ratio (OR), 1.463; 95% CI, 1.183-1.809; P < 0.0001) but in those with cardiac defects it did not change significantly with NT thickness (OR, 2.054; 95% CI, 0.573-7.360; P = 0.269). The likelihood ratio for a major cardiac defect when the ductus venosus flow was abnormal decreased with fetal NT thickness from 4.58 at NT 3.5 mm to 2.47 for NT 5.5 mm, and the likelihood ratio when the ductus venosus flow was normal increased from 0.37 at NT 3.5 mm to 0.43 for NT 5.5 mm. CONCLUSION: In chromosomally normal fetuses with increased NT the finding of an absent or reversed A-wave in the ductus venosus is associated with a three-fold increase in the likelihood of a major cardiac defect, whereas the finding of normal ductal flow is associated with a halving in risk for such defects.

Choroid plexus cyst, intracardiac echogenic focus, hyperechogenic bowel and hydronephrosis in screening for trisomy 21 at 11 + 0 to 13 + 6 weeks.

OBJECTIVES: To investigate the potential value of choroid plexus cyst, intracardiac echogenic focus, hydronephrosis and hyperechogenic bowel as markers of trisomy 21 at 11 + 0 to 13 + 6 weeks. METHODS: We examined three-dimensional volumes from 228 fetuses with trisomy 21 and 797 chromosomally normal fetuses at 11 + 0 to 13 + 6 weeks of gestation. We looked for choroid plexus cysts with a minimum diameter of 1.5 mm, intracardiac echogenic focus, hydronephrosis with a minimum anteroposterior diameter of the pelvis of 1.5 mm and hyperechogenic bowel. RESULTS: The prevalence of intracardiac echogenic focus, hydronephrosis and hyperechogenic bowel was significantly higher in trisomy 21 than in normal fetuses (9.6% vs. 1.5%, 17.1% vs. 5.3% and 11.4% vs. 2.4%, respectively). There was no significant difference between the two groups in the prevalence of choroid plexus cysts (7.5% vs. 5.0%). There were no significant differences in crown-rump length or nuchal translucency thickness in either chromosomally normal or trisomy 21 fetuses between those with and those without any one of the markers. CONCLUSIONS: At 11 + 0 to 13 + 6 weeks the prevalence of intracardiac echogenic focus, hydronephrosis and hyperechogenic bowel is higher in trisomy 21 than in chromosomally normal fetuses. As there is no significant association between the presence of these markers and nuchal translucency thickness, they could be included in the assessment of risk to improve accuracy of screening.

The mitral gap at 11 + 0 to 13 + 6 weeks: marker of trisomy 21 or artifact?

OBJECTIVES: To investigate the possible association between a particular pulsed Doppler waveform pattern, mitral gap, and trisomy 21 at 11 + 0 to 13 + 6 weeks. METHODS: We performed two studies. The first was a retrospective analysis of pulsed Doppler velocity waveforms of the mitral valve inflow, recorded during specialist fetal echocardiography in 291 chromosomally normal and 144 trisomy 21 fetuses with a nuchal translucency (NT) thickness of 3.5 mm or more. We examined each waveform in each trace to determine whether there was a gap between the E-wave (early diastolic filling) and A-wave (atrial contraction) in the waveform across the mitral valve. We also examined each trace that contained at least one waveform with a mitral gap and, first, noted the order of waveforms with a mitral gap relative to those without and, second, measured the A-wave peak velocity in a representative waveform with a mitral gap and in one without. The second study was a prospective investigation in which Doppler velocity waveforms of the mitral valve inflow were assessed in 227 singleton pregnancies immediately before chorionic villus sampling. RESULTS: A mitral gap was observed in 16 (5.5%) of the chromosomally normal and in 25 (17.4%) of the trisomy 21 fetuses. The incidence of mitral gap was significantly associated with the presence of cardiac defects but not with thickness of NT. The median number of waveforms per recorded image was 6 (range, 3-7) and in 32 (78%) of the 41 traces with a mitral gap only one or two of the waveforms was abnormal. The abnormal waveforms were in the middle or at the end of the trace in 95% of cases and had a lower mean A-wave peak velocity than did the normal waveforms (mean difference 3.7 cm/s; 95% CI, 0.3-7.0 cm/s; P = 0.03). In a prospective study of 10 normal fetuses we could produce a mitral gap deliberately by moving the sample volume out of the center of flow in the atrioventricular valve. In the prospective study of 227 pregnancies undergoing chorionic villus sampling a mitral gap was observed in 26/197 (13.2%) in which the fetal karyotype was subsequently found to be normal, 4/20 (20%) with trisomy 21 and 1/10 with other chromosomal defects. CONCLUSIONS: At 11 + 0 to 13 + 6 weeks, a mitral gap may be more common in fetuses with trisomy 21 than in fetuses with a normal karyotype. However, it is possible that a mitral gap does not reflect an underlying hemodynamic abnormality, but is rather the result of suboptimal positioning of the Doppler sample volume as the fetus moves during acquisition.