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This article discusses a case of prenatal diagnosis of proboscis lateralis, a rare craniofacial anomaly characterized by a soft, finger-like appendage below the forehead. The case involves a 31-year-old woman who was referred for an abnormal appearance of the fetal nose on ultrasound. The prenatal genetic examinations were normal, and the fetus was delivered without complications. The article emphasizes the importance of detailed ultrasound examination and genetic testing in cases of proboscis lateralis, and highlights the need for an interdisciplinary approach to postnatal treatment. [Extracted from the article]

Purpose: To assess the value of routine mid-trimester fetal ultrasound scans in detecting FCs, as well as the related ultrasound and clinical follow-up outcomes.A retrospective analysis was conducted on 1064 fetuses who underwent standardized ultrasound screening during the mid-trimester. During the examination, high-frequency ultrasound was used to examine the fetal spine. Different frequency ultrasound probes were used to compare and analyze the detection rates of FCs. We conducted follow-up ultrasound observations on all FCs and conducted long-term follow-up observations in terms of the motor function of the children after birth.Among 1064 fetuses detected by ultrasound, a total of 910 fetuses were completely evaluated using high-frequency and low-frequency ultrasound, and 24 FCs were found. In all 24 cases of FCs, 7 cases were detected using low-frequency ultrasound, while high-frequency ultrasound detected all cases. There was a significant difference in the detection rates between the two groups (χ2 = 26.323, P = 0.000). Of all the 24 FCs, 21 cysts disappeared spontaneously (87.5%); one fetus was induced for abortion due to a concurrent cleft lip; after multiple ultrasound examinations, it was found that the cyst persisted in one fetus; one case was not followed up by ultrasound. There was no statistically significant difference in the start of sitting and crawling time between the control group and the FCs group.Routine mid-trimester fetal ultrasound scan detect FCs, particularly when high-frequency ultrasound probes were routinely applied. Most FCs detected by prenatal ultrasound spontaneously disappear and have no impact on the motor function of the fetus after birth (with the conus medullaris located at or above the L3 level). The shortest time interval from the detection to the disappearance of the cyst was 11 days.Methods: To assess the value of routine mid-trimester fetal ultrasound scans in detecting FCs, as well as the related ultrasound and clinical follow-up outcomes.A retrospective analysis was conducted on 1064 fetuses who underwent standardized ultrasound screening during the mid-trimester. During the examination, high-frequency ultrasound was used to examine the fetal spine. Different frequency ultrasound probes were used to compare and analyze the detection rates of FCs. We conducted follow-up ultrasound observations on all FCs and conducted long-term follow-up observations in terms of the motor function of the children after birth.Among 1064 fetuses detected by ultrasound, a total of 910 fetuses were completely evaluated using high-frequency and low-frequency ultrasound, and 24 FCs were found. In all 24 cases of FCs, 7 cases were detected using low-frequency ultrasound, while high-frequency ultrasound detected all cases. There was a significant difference in the detection rates between the two groups (χ2 = 26.323, P = 0.000). Of all the 24 FCs, 21 cysts disappeared spontaneously (87.5%); one fetus was induced for abortion due to a concurrent cleft lip; after multiple ultrasound examinations, it was found that the cyst persisted in one fetus; one case was not followed up by ultrasound. There was no statistically significant difference in the start of sitting and crawling time between the control group and the FCs group.Routine mid-trimester fetal ultrasound scan detect FCs, particularly when high-frequency ultrasound probes were routinely applied. Most FCs detected by prenatal ultrasound spontaneously disappear and have no impact on the motor function of the fetus after birth (with the conus medullaris located at or above the L3 level). The shortest time interval from the detection to the disappearance of the cyst was 11 days.Results: To assess the value of routine mid-trimester fetal ultrasound scans in detecting FCs, as well as the related ultrasound and clinical follow-up outcomes.A retrospective analysis was conducted on 1064 fetuses who underwent standardized ultrasound screening during the mid-trimester. During the examination, high-frequency ultrasound was used to examine the fetal spine. Different frequency ultrasound probes were used to compare and analyze the detection rates of FCs. We conducted follow-up ultrasound observations on all FCs and conducted long-term follow-up observations in terms of the motor function of the children after birth.Among 1064 fetuses detected by ultrasound, a total of 910 fetuses were completely evaluated using high-frequency and low-frequency ultrasound, and 24 FCs were found. In all 24 cases of FCs, 7 cases were detected using low-frequency ultrasound, while high-frequency ultrasound detected all cases. There was a significant difference in the detection rates between the two groups (χ2 = 26.323, P = 0.000). Of all the 24 FCs, 21 cysts disappeared spontaneously (87.5%); one fetus was induced for abortion due to a concurrent cleft lip; after multiple ultrasound examinations, it was found that the cyst persisted in one fetus; one case was not followed up by ultrasound. There was no statistically significant difference in the start of sitting and crawling time between the control group and the FCs group.Routine mid-trimester fetal ultrasound scan detect FCs, particularly when high-frequency ultrasound probes were routinely applied. Most FCs detected by prenatal ultrasound spontaneously disappear and have no impact on the motor function of the fetus after birth (with the conus medullaris located at or above the L3 level). The shortest time interval from the detection to the disappearance of the cyst was 11 days.Conclusion: To assess the value of routine mid-trimester fetal ultrasound scans in detecting FCs, as well as the related ultrasound and clinical follow-up outcomes.A retrospective analysis was conducted on 1064 fetuses who underwent standardized ultrasound screening during the mid-trimester. During the examination, high-frequency ultrasound was used to examine the fetal spine. Different frequency ultrasound probes were used to compare and analyze the detection rates of FCs. We conducted follow-up ultrasound observations on all FCs and conducted long-term follow-up observations in terms of the motor function of the children after birth.Among 1064 fetuses detected by ultrasound, a total of 910 fetuses were completely evaluated using high-frequency and low-frequency ultrasound, and 24 FCs were found. In all 24 cases of FCs, 7 cases were detected using low-frequency ultrasound, while high-frequency ultrasound detected all cases. There was a significant difference in the detection rates between the two groups (χ2 = 26.323, P = 0.000). Of all the 24 FCs, 21 cysts disappeared spontaneously (87.5%); one fetus was induced for abortion due to a concurrent cleft lip; after multiple ultrasound examinations, it was found that the cyst persisted in one fetus; one case was not followed up by ultrasound. There was no statistically significant difference in the start of sitting and crawling time between the control group and the FCs group.Routine mid-trimester fetal ultrasound scan detect FCs, particularly when high-frequency ultrasound probes were routinely applied. Most FCs detected by prenatal ultrasound spontaneously disappear and have no impact on the motor function of the fetus after birth (with the conus medullaris located at or above the L3 level). The shortest time interval from the detection to the disappearance of the cyst was 11 days. [ABSTRACT FROM AUTHOR]

Purpose: We aimed to present the fetal ultrasound, cytogenetic/molecular testing and postmortem or postnatal clinical findings of cases with 22q11.2DS diagnosed prenatally. Materials and methods: A retrospective medical record review of 48 prenatal cases diagnosed with 22q11.2DS were evaluated in our institution. Detailed ultrasound examination was performed on all fetuses. Postmortem and postnatal examinations were evaluated. The microdeletions were detected by karyotyping or microarray, then confirmed by FISH. Descriptive statistical analysis was performed. Results: Demographic data of 48 prenatal cases including 46 singletons and 1 dichorionic diamniotic twin pregnancy were evaluated. The most common extracardiac anomaly was skeletal system anomalies (25%), in which PEV was the most frequent one (20.8%). Polyhydramnios rate was detected as 31%, in 6.6% as an isolated finding. Microdeletion has been detected by karyotyping in 13 cases (13/47, 27.7%) (including 2 unbalanced translocations), by FISH in 28 cases (28/48, 58.3%), by microarray/a-CGH testing in 7 cases. Microarray analysis showed that in one case with unbalanced translocation had two consecutive deletions; one was proximal and other one distal to critical region and not encompassing TBX1 gene but CRKL and LZTR1 genes. Conclusion: The current study demonstrates the whole spectrum of atypical phenotypic and genotypic variations of 22q11.2DS in the largest prenatal case series reported to date. Therefore, differential diagnosis should be considered not solely in CHD, but also in the presence of isolated clubfeet and polyhydramnios. Establishing the diagnosis in the prenatal period may allow a postnatal multidisciplinary approach, as well as affect the actual prevalence of the disease. [ABSTRACT FROM AUTHOR]

Purpose: To analyze anatomic features and associated malformations in 37 prenatally detected cases of congenitally corrected transposition of the great arteries (ccTGA) and to evaluate the prenatal course, neonatal outcome and mid-term follow-up.Methods: Retrospective analysis of prenatal ultrasound of 37 patients with ccTGA in two tertiary centers between 1999 and 2019. All fetuses received fetal echocardiography and a detailed anomaly scan. Postnatal outcome and follow-up data were retrieved from pediatric reports.Results: Isolated ccTGA without associated cardiac anomalies was found in 13.5% (5/37), in all other fetuses additional defects such as VSD (73.0%), pulmonary obstruction (35.1%), tricuspid valve anomalies (18.9%), aortic arch anomalies (13.5%), ventricular hypoplasia (5.4%) or atrioventricular block (5.4%) were present. The rate of extracardiac malformations or chromosomal aberrations was low. There were 91.9% (34/37) live births and postnatal survival rates reached 91.2% in a mean follow-up time of 4.98 years. The prenatal diagnosis of ccTGA was confirmed postnatally in all but one documented live birth and the prenatal counselling regarding the expected treatment after birth (uni- versus biventricular repair) was reassured in the majority of cases. The postnatal intervention rate was high, 64.7% (22/34) received surgery, the intervention-free survival was 36.7%, 35.0% and 25.0% at 1 month, 1 year and 10 years, respectively.Conclusions: ccTGA is a rare heart defect often associated with additional heterogeneous cardiac anomalies that can be diagnosed prenatally. The presented study demonstrates a favorable outcome in most cases but the majority of patients require surgical treatment early in life. [ABSTRACT FROM AUTHOR]

Purpose: Fetal arthrogryposis multiplex congenita (AMC) describes a heterogeneous disease entity characterized by multiple contractures affecting at least two different body areas. The aim of our study was to identify additional sonographic abnormalities in fetuses with AMC Type I–III associated with an unfavorable prognosis and to describe when those signs were first detected. Methods: This retrospective study included 41 pregnancies of suspected AMC diagnosed 1999–2017 at our tertiary referral center. The affected pregnancies were divided into the 3 AMC subgroups; the time of detection and outcome were analyzed. Prenatal sonograms, pediatric charts, genetic tests, and autopsy reports were studied. Results: Pregnancy outcome data were verifiable in 34 out of 41 cases; in 27 cases, AMC was confirmed. Hydrops was present in 50% of postnatally deceased fetuses, 53% of cases resulting in termination of pregnancy vs. 0% of the surviving 8 children. Absent stomach filling was found in 67% of the children with neonatal death. After subcategorization, the limb-involvement-only-group, 8% showed hydrops vs. 100% in system anomaly group vs. 70% in neuromuscular dysfunction cohort (p = 0.001). Scoliosis, nuchal edema, and absent stomach filling were significantly indicating for a neurological etiology. Conclusion: In addition to disease-defining sonographic findings, those with prognostic significance were identified. Hydrops, nuchal edema, scoliosis and absent stomach filling were associated with unfavorable outcomes implicating a neuromuscular etiology. This knowledge can help to predict the further course of the disease and support patient counseling. [ABSTRACT FROM AUTHOR]

Background: Gallbladder duplication is a rare anatomic anomaly characterized by the presence of an accessory gallbladder.Objective: To appraise the prevalence and significance of prenatal diagnosis of duplication of gallbladder in a multicenter study.Methods: This was a multicenter case series with literature review. Clinical records of all consecutive pregnant women with a prenatal diagnosis of duplication of gallbladder, who were referred to our Centers were included in this study. The diagnosis of duplication of gallbladder was based on the evidence of double gallbladder in the standard abdominal circumference plane using grey scale. Postnatal magnetic resonance cholangiopancreatography (MRCP) 3D and postnatal neonatal abdominal ultrasound scan were offered soon after birth to confirm the diagnosis of double gallbladder. The systematic review was conducted using electronic databases from inception of each database through December 2019.Results: Five studies, including a total of seven cases, were identified as relevant and included in the systematic review. Gestational age at diagnosis ranged from 20 to 32 weeks of gestation. Associated findings were reported in only one case, where the fetus presented with a left-sided gallbladder, and bilateral renal agenesis with Potter sequence. None of the included cases reported abnormal karyotype. Our cases series included nine cases (0.03%) of double gallbladder with postnatal confirmation, with an overall incidence of this anomaly of 0.03%.Associated findings were reported in only two cases, one with IUGR and omphalocele, that opted for I-TOP, and one with single umbilical artery. Except for the I-TOP, neonatal outcome was favorable in all cases.Conclusions: Duplication of the gallbladder is a very rare malformation with only seven cases reported in the literature diagnosed prenatally. This anomaly is not associated with abnormal karyotype, and the neonatal outcome is favorable if there are no other associated abnormalities. [ABSTRACT FROM AUTHOR]

Background: Despite the well-known second trimester ultrasound signs, current possibilities of in utero surgical repair of open spina bifida require a timely detection of the spine defect.Objective: To evaluate the diagnostic accuracy of the ratio between brain stem (BS) diameter and its distance to the occipital bone (BSOB) (BS/BSOB ratio) in the detection of fetuses with open spina bifida at first trimester ultrasound.Methods: A systematic review and meta-analysis of diagnostic accuracy was performed by searching seven electronic databases from their inception to February 2019 for all studies assessing the association between BS/BSOB ratio and diagnosis of spine bifida. Diagnostic accuracy of BS/BSOB ratio in prenatal diagnosis of spine bifida was assessed as sensitivity, specificity, positive and negative likelihood ratios (LR + and LR-), and area under the curve (AUC) on SROC curves.Results: Four studies, including 17,598 fetuses with 23 cases of open spina bifida, were included in the meta-analysis. BS/BSOB ratio showed pooled sensitivity of 0.70 (95% CI 0.47-0.87; I2 = 78.3%), specificity of 1.00 (95% CI 0.99-1.0; I2 = 99.2%), LR + and LR- of 51.44 (95% CI 9.53-277.64; I2 = 85.5%) and 0.23 (95% CI 0.04-1.17; I2 = 64.8%), respectively, and an AUC of 0.9649.Conclusion: First trimester BS/BSOB ratio has a high diagnostic accuracy in detecting fetuses with open spina bifida. [ABSTRACT FROM AUTHOR]

Purpose: Alterations in renal dimensions may be an early manifestation of deviation from normality, with possible repercussions beyond intrauterine life. The objective of this study was to establish reference curves for fetal kidney dimensions and volume from 14 to 40 weeks of gestation.Methods: This is a prospective longitudinal study of 115 Brazilian participants in the "WHO multicentre study for the development of growth standards from fetal life to childhood: the fetal component". Pregnant women with clinical and sociodemographic characteristics allowing the full potential fetal growth were followed up from the first trimester until delivery. These women underwent serial sonographic evaluation of fetal kidneys. The longitudinal, anteroposterior and transverse diameters of both fetal kidneys were measured, in addition to calculation of kidney volume. By quantile regression analysis, reference curves of renal measurements related to gestational age were built.Results: Standard normal sonographic values of renal biometry were defined during pregnancy. Reference values for the 10th, 50th and 90th centiles of different fetal kidney measurements (longitudinal, anteroposterior, transverse and volume) from the 14th to the 40th week of gestation were fitted.Conclusion: The reference curves presented should be of the utmost importance for screening and diagnosis of alterations in renal development during the intrauterine period. [ABSTRACT FROM AUTHOR]

Purpose: To assess fetal central nervous system (CNS) abnormalities presenting as major findings leading to late termination of pregnancy (late TOP) performed ≥ 24 weeks' gestation.Method: The study population included 2789 pregnant women that underwent late TOP in our institute between the years 1998 and 2015.Results: Fifty-seven cases (2.0%) underwent late TOP because of fetal CNS indications and are the subjects of the current study. Those cases were subdivided into four categories (1) no routine prenatal screening with an incidental finding discovered ≥ 24 weeks' gestation (25 patients, 43.8%); (2) developmental or acquired findings detected during late second and third trimester (22 patients, 38.6%); (3) apparently normal routine screening with abnormal findings that could have been detected earlier (six patients, 10.6%); (4) routine prenatal care raised suspicion of abnormalities, and the final diagnosis was established only following additional tests (four patients, 7.0%).Conclusions: Combining the two categories of CNS abnormalities, i.e., pregnant women who did not undergo any fetal evaluation (group 1) and those that could have been detected earlier (group 3) consists 54% from our cohort in which late TOP could have been avoided. On contrary, 39% fetuses from our study population had CNS developmental findings which could be detected only at advanced stage of gestation. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the impact of genetic counseling (GC) during the third trimester by analyzing changes in pregnancy management and the correlation with postnatal findings.Methods: This was a retrospective study. Pregnancy course and neonatal follow-up were analyzed according to the reason for referral and implementation of recommendations.Results: The records of neonates born to 181 women were retrieved. Fifty-two women (group 1-29%) qualified for pregnancy termination under Israeli guidelines and laws, and 129 (group 2-71%) were not at the time they were referred. By another division: 104 women (group 3-57%) followed the physician's diagnostic recommendations completely after counseling including amniocentesis, fetal MRI, targeted ultrasound scans, fetal echocardiography. Seventy-seven declined amniocentesis (group 4-43%). Additional abnormalities were detected postpartum in all groups without statistically difference: 3/52 (10%) in group 1, 9/129 (7%) in group 2, 6/104 (6%) in group 3, and 6/77 (8%) in group 4).Conclusion: GC in the third trimester of pregnancy provided the couple with a sharper more focused picture and assisted them to perceive the significance of new, significant fetal findings which attest to the value of the GC. [ABSTRACT FROM AUTHOR]

Purpose: First trimester risk assessment plays a major role in the contemporary pregnancy care. It has evolved significantly since its introduction in the 1990s when it essentially consisted of just the nuchal translucency measurement. Today, it involves the measurement of several biophysical and biochemical markers and can assess the risk for a wide array of major chromosomal and non-chromosomal defects as well as other pregnancy-related complications.Methods: A search of the Medline and Embase databases was done looking for articles about first trimester screening. We performed a detailed review of the literature to evaluate the screening tests currently available and their respective test performance.Results: The detailed ultrasound examination results in the detection of about half of major structural defects, determination of a very accurate gestational age, and identification of multiple pregnancies as well as their chorionicity. In addition, risk assessment for preeclampsia and early IUGR can be established at this stage. In case of an increased risk, the daily use of low-dose aspirin can be offered at a point in pregnancy when it still can have a positive impact. Additional screening tests for gestational diabetes and macrosomia are available.Conclusion: Contemporary first trimester screening is essential to establish an individual risk profile and can be used to tailor the pregnancy care. [ABSTRACT FROM AUTHOR]

Purpose: This study sought to evaluate the fetal echocardiography features of isolated right aortic arch (RAA) with mirror-image branching and to improve the rate and accuracy of prenatal diagnosis of this condition.Methods: We reviewed fetal echocardiograms from all cases of isolated RAA with mirror-image branching diagnosed at our institution between August 2012 and December 2015 and classified these cases into normal and abnormal types of ductus arteriosus based on the course of the arterial duct arch. We confirmed the diagnoses by postnatal echocardiography.Results: A total of 11 cases of isolated RAA with mirror-image branching, with the left ductus and the descending aorta located on the left side of the spine, were diagnosed using fetal echocardiography. Ten cases involved normal ductus arteriosus, with the left ductus connecting the left pulmonary artery to the descending aorta, five of which were referred to our institution for suspicions of double aortic aorta. 1 case involved abnormal ductus arteriosus, with the left ductus connecting the left pulmonary artery to the left innominate artery.Conclusions: RAA with mirror-image branching can be detected via fetal echocardiography, which can reveal the relationship between of the aortic arch and the trachea and can enable the identification of the course of brachiocephalic branching. The identification of isolated RAA with mirror-image branching is crucial for distinguishing this condition from other types of aortic arch anomalies, particularly double aortic aorta, which can have a rather different prognosis. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the sonographic and clinical genotype-phenotype correlations in autosomal recessive polycystic kidney disease (ARPKD) and other cystic kidney diseases (CKD) in a large cohort of prenatally detected fetuses with hereditary CKD.Methods: We retrospectively studied the clinical and diagnostic data of 398 patients referred with prenatal ultrasound findings suggestive of CKD between 1994 and 2010. Cases with confirmed hereditary CKD (n = 130) were analyzed as to their prenatal ultrasound findings, genotype, and possible predictors of clinical outcome.Results: ARPKD was most common in our non-representative sample. Truncating PKHD1 mutations led to a significantly reduced neonatal prognosis, with two such mutations being invariably lethal. Sonographically visible kidney cysts occurred in only 3% of ARPKD cases. Renal abnormalities in Meckel syndrome (MKS) appeared earlier than in ADPKD (19.6 ± 3.7 vs. 29.8 ± 5.1 GW) or ARPKD (19.6 ± 3.7 vs. 30.2 ± 1.2 GW). Additional CNS malformations were not found in ARPKD, but were highly sensitive for MKS. Pulmonary hypoplasia, oligo/anhydramnios (OAH), and kidney enlargement were associated with a significantly worse neonatal prognosis.Conclusion: Genotype, sonographic signs of OAH, enlarged kidney size, and pulmonary hypoplasia can be useful predictors of neonatal survival. We propose sonographic morphological criteria for ARPKD, ADPKD, MKS, and renal cyst and diabetes syndrome (RCAD). We further propose a clinical diagnostic algorithm for differentiating cystic kidney diseases. [ABSTRACT FROM AUTHOR]

Purpose: To analyze fetal cases with spina bifida undergoing termination of pregnancy according to chromosomal analysis and further diagnosed sonographic findings.Methods: Retrospective analysis of cases with spina bifida leading to termination of pregnancy in a tertiary referral center from 2002 to 2011.Results: In the study period, 246 cases of spina bifida were diagnosed in our center and 157 parents chose termination of pregnancy. The time of diagnosis was on average 2 days before the first presentation at our department (22 + 3, range: 12 + 3 - 33 + 3 weeks of gestation). Among 157 pregnancies with spina bifida and termination of pregnancy, further malformations could be detected in 46 (29.3 %) cases. An abnormal karyotype could be found in 13 (18.1 %). Severe ventriculomegaly or mild/moderate ventriculomegaly was present in 109 (69.4 %) and 29 (18.5 %) of the cases, respectively, while banana sign was detectable in 153 cases (97.5 %). In the majority, the upper lesion level was lumbar (71.3 %). In 67 cases (42.7 %), termination of pregnancy took place in or after the 24th week of gestation.Conclusion: Direct and indirect signs of spina bifida were detectable in nearly all cases independent of the gestational age. Therefore, the diagnosis could have been made in all cases with late termination. Implementation of a uniform prenatal care including first-trimester scan with potential signs for open spina bifida and second-trimester anomaly scan with indirect intracranial findings and direct detection of spinal lesion could lead to an earlier diagnosis and help to reduce late termination of pregnancy in neural tube defects. [ABSTRACT FROM AUTHOR]

Purpose: To improve the outcome of fetuses with gastrochisis several studies evaluated prenatal predictors. But there are different guidelines established and therefore the prenatal care is not standardized. With our study we wanted to evaluate the outcome of fetuses with gastroschisis after modification of prenatal management strategies at the Department of Obstetrics and Gynecology of the University Hospital Münster.Methods: In this explorative retrospective study of 39 fetuses with gastroschisis, we compare the clinical outcome between two management groups. In the first group (group 1, n = 14) prenatal indication for delivery was confirmed by a subjective evaluation of the small bowel diameter and the wall thickness without established cut-off values for these parameters. In the second group (group 2, n = 25) certain limits for the small bowel diameter (25 mm) and the wall thickness (2.5 mm) were used for fetal surveillance.Results: Noticeable differences between the two groups regarding birth weight, weight centile, arterial pH, small bowel diameter, wall thickness, adverse bowel condition and re-operations could not be observed. In group 2, delivery was earlier (p = 0.011), and a lower rate of prenatal complications was observed (p = 0.016).Conclusion: To avoid adverse prenatal complications we recommend the observation of fetuses with gastroschisis by sonographic monitoring of the small bowel diameter and the wall thickness. [ABSTRACT FROM AUTHOR]

Purpose: To determine correlations between macrophage colony-stimulating factor (MCSF) levels in maternal blood during first trimester screening with respect to normal and pathological pregnancies.Methods: This was a prospective single centre study. First trimester screening was performed according to FMF London certificates. Nuchal translucency, PAPP-A and free β-HCG were obtained as well as M-CSF serum levels in maternal blood. Fetal karyotyping was achieved by chorionic villi sampling.Results: 125 patients were enrolled in this study. 21 pregnancies had confirmed aberrant karyotypes. Trisomy 21 cases showed significantly elevated M-CSF levels of 270 ± 91 pg/ml (p = 0.032), whereas cases of trisomy 13 (183 ± 68 pg/ml) and trisomy 18 (143 ± 40 pg/ml) had low M-CSF levels. Furthermore M-CSF levels tended to be low in preterm deliveries, placental insufficiency and nicotine consumption. In cases with gestational diabetes M-CSF tended to be elevated. Furthermore we found a positive correlation between high free β-human chorionic gonadotropin (hcg) and MCSF values. There was no correlation between pregnancy associated plasma protein (PAPP-A) and M-CSF.Conclusions: M-CSF is a cytokine promoting placental growth and differentiation. M-CSF is known to be involved in the process of implantation in pregnancy. The role of M-CSF with respect to disturbed pregnancy outcomes such as placental insufficiency in normal or aberrant karyotypes, for example, is yet subject to further research. [ABSTRACT FROM AUTHOR]

Purpose: To identify predictive ultrasound signs for unfavorable outcome in fetal gastroschisis (GS).Methods: This is a retrospective cohort study among pregnant women with the prenatal diagnosis of GS between 1998 and 2011 at the University of Wuerzburg, Germany. Analysis included prenatal ultrasound scans, neonatal intensive care unit (NICU) records, and pediatric records. The collected variables included maternal and fetal demographics, as well as an analysis of predictors for unfavorable fetal outcome. Unfavorable outcome was defined by more than 2 postnatal surgical interventions, intestinal resections, and long time to oral feeding (≥4 weeks).Results: 35 cases of fetal GS were diagnosed, whereby 23 cases met the inclusion criteria and were evaluated by prenatal ultrasound and postnatal outcome. Based on the postnatal situation, 15 patients were classified in a good prognosis group and 8 patients in a poor prognosis group. Fetuses with poor prognosis were presented later during pregnancy (21.1 ± 6 vs. 26.9 ± 5.3 weeks; p < 0.01) and delivered at earlier gestational age (35.6 ± 0.8 vs. 33.4 ± 1.4 weeks; p < 0.01) with lower birth weight (2074 ± 306.3 vs. 2559 ± 255.4 g; p < 0.01). There were no differences in prenatal findings like growth restriction, amniotic fluid index, or Doppler results between good and poor prognosis group. However, early detected and long-lasting bowel dilatation was associated with poor prognosis.Conclusion: Late presentation and early gestational age at delivery are associated with poor prognosis in neonates with GS. Furthermore, early onset as well as long duration of bowel dilatation is associated with poor fetal outcome, while other ultrasound characteristics are not able to predict poor prognosis of GS. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the fetal loss rate associated with second trimester amniocentesis. Methods: All cases of pregnant women ≥35 years old with gestational age beyond 16 weeks between 1997 and 2006 were included in this study. The study group consisted of all cases that the patients decided to have second trimester genetic amniocentesis. The control group was a randomized selection of pregnant women who refused any procedures. The ratio of the study case to the control case was 2:1. The fetal loss rates after amniocentesis before 24, and 28 complete weeks and the pregnancy outcome were analyzed. Results: 2,990 cases in the study group and 1,495 cases in the control group were used for this analysis. The mean maternal age in the study group and control group were 36.89 ± 1.63 and 36.78 ± 1.59 years old, respectively (P = 0.239). The procedure-related fetal loss before 24 and 28 complete weeks were 0.17 and 0.50%, respectively. The most common presenting symptom before fetal loss in the study cases was abdominal pain. Almost all of the cases leading to abortion had symptoms initiated after 48 h post procedure. Significantly higher chances of abortion occurred in pregnant women ≥41 years old (P = 0.008). Conclusion: The procedure-related fetal loss rates in pregnant women ≥35 years old after amniocentesis before 24 and 28 complete weeks were 0.17 and 0.50%, respectively. The certain factors influencing the risk of fetal loss might be independent of the amniocentesis procedure. [ABSTRACT FROM AUTHOR]

Background: Cerebral malformations may lead to permanent postnatal sequels. The antenatal detection of anomalous or absent fetal sulci and gyri may indicate abnormal brain development and future neurological and psychomotor problems in that infant. The prenatal diagnosis of these conditions allows genetic counseling, psychological support of the parents and optimization of obstetric management. Diagnosis is usually based on two-dimensional obstetric ultrasound (2DUS) and eventually fetal magnetic resonance imaging (MRI), to confirm findings. Fetal three-dimensional ultrasound (3DUS) using the rendering mode has been recently introduced but has not yet been extensively tested in clinical practice. Context: This study reviewed and compared three imaging modalities, 2DUS, 3DUS, and MRI, in the analysis of the development of the main sulci and gyri of central nervous system of normal fetuses between 20 and 32 weeks' gestation. [ABSTRACT FROM AUTHOR]

Context: The cervical teratomas are rare, benign tumors, they are formed by the three embryonic layers, and they represent only 6% of teratomas. The prognosis depends mainly on the size and location of the lesion, on the tumor growth rate, and on the level of tracheal compression. Prenatal diagnosis is usually reached with the aid of a two-dimensional ultrasonography (2DUS) after the 15th week of gestation, which shows a large heterogeneous mass in the cervical region, plus a polyhydramnios, on the Doppler mode which also shows the vascularization of the tumor. Case Report: We report a case of cervical teratoma diagnosed on the 31st week of gestation with the aid of a 2DUS and color Doppler mode. We focus on the main findings obtained with the three-dimensional ultrasonography in surface mode, and we highlight the importance of this methodology for the indirect evaluation of the neonatal prognosis. [ABSTRACT FROM AUTHOR]

Harlequin ichthyosis (HI) is a severe and usually fatal congenital keratinization disorder with autosomal recessive inheritance. For over a decade, prenatal diagnosis of HI relied on fetoscopic or sonographically guided skin biopsies, and, therefore, was limited to previously affected families. Only a few cases of prenatal sonographic diagnosis have been published and the sonographic findings are variable. We report a case of HI, in which the typical features were detected during fetal life but the condition remained undiagnosed at 35 weeks' gestational age in this pregnancy complicated by premature rupture of membranes, oligohydramnios and intrauterine growth retardation. The documented prenatal findings were a flat profile with absent nose; a large mouth, widely gaping open; dysplastic ears; abnormal fixed position of the hands; and edema of thighs and feet; and intrauterine growth retardation. Following elective cesarean section the infant died of septicemia 12 days post-partum despite etretinate and antibiotic treatment. The sonographic features of HI are discussed together with those previously reported and an attempt is made to delineate sonographic markers of this rare disorder. [ABSTRACT FROM AUTHOR]

Trisomy of chromosome 18 is the second most common autosomal trisomy, occurring in approximately 1:7,000 live births. Its prenatal diagnosis through abnormal findings in ultrasound with later analysis of fetal karyotype is important for a definition of the prognosis and counseling of the patients. We describe a case of trisomy 18 as true mosaicism diagnosed through amniocentesis in the second trimester of pregnancy, associated to the presence of multiple fetal phenotypic alterations. We focus on the importance of fetal morphological study through three-dimensional ultrasonography, which was highly important for clearly showing the fetus' structural alterations, helping parents to understand better the pathology and allowing them to reason about the continuity of the gestation. [ABSTRACT FROM AUTHOR]

We present a case of penile agenesis complicated by multicystic dysplastic kidneys and urethral agenesis, which resulted in oligohydramnios, pulmonary hypoplasia and neonatal death. In this case, no external urethral opening was found, and the gastrointestinal tract showed no anomaly. Cases of penile agenesis complicated by Potter sequence with urethral agenesis should be differentiated from those with ectopic urethral openning. [ABSTRACT FROM AUTHOR]