Routine Prenatal Ultrasound Screening Research Articles

A novel CHD7 variant in a chinese family with CHARGE syndrome.

CHARGE syndrome is a rare autosomal dominant (AD) multi-system disorder with a broad and variable clinical manifestation and occurs in approximately 1/10,000 newborns in the world. Mutations in the CHD7 gene are the genetic cause of over 90% of patients with typical CHARGE syndrome. The present study reported a novel variant in the CHD7 gene in a Chinese family with an abnormal fetus. Routine prenatal ultrasound screening showed fetal heart abnormality and left foot varus. Chromosomal microarray analysis (CMA) and fetus-parent whole-exome sequencing (trio-WES) were performed to determine the genetic cause of the fetus. The candidate variant was further verified using Sanger sequencing. CMA analysis revealed normal results. However, WES analysis identified a de novo heterozygous variant of c.2919_2922del (NM_017780.4) on exon 11 of CHD7 gene, resulting in a premature truncation of the CHD7 protein (p.Gly975*). The variant was classified as Pathogenic (PVS1 + PS2_Moderate + PM2_Supporting) based on the ACMG guidelines. Combined with the clinical phenotype of fetal heart abnormalities, it was confirmed CHARGE syndrome. We identified a novel heterozygous variant c.2919_2922del in CHD7 of a Chinese fetus with CHARGE syndrome, enriching the genotype-phenotype spectrum of CHD7. These results suggest that genetic testing could help facilitate prenatal diagnosis of CHARGE syndrome, thus promoting the appropriate genetic counseling.

Pattern and distribution of prenatally diagnosed congenital anomalies among high risk pregnant women in Ibadan, South Western Nigeria.

IntroductionCongenital anomalies (CA) are structural or functional disorders present at birth. Routine prenatal ultrasound screening has become an indispensable tool for early detection of CA in developed countries which will facilitate appropriate preemptive actions for safe guarding the health of both mother and the unborn fetus. The prevalence of CA in the general population has been researched widely but very few studies exist on the prevalence of CA among high risk pregnancies. Aims and objective: the aim of this study was to determine the prevalence and pattern of congenital anomalies among high risk pregnant women in Ibadan, South West, Nigeria.Methodsthis multicenter cross sectional study was conducted in three different hospitals in Ibadan, South West, Nigeria between August 2018 and July 2019. High risk pregnant women that met the inclusion criteria were recruited for the study. Participants underwent detailed fetal anomaly scans at gestational ages between 18-26 weeks during the study period using a Voluson P6 ultrasound machine (GE Healthcare Korea). Written informed consents were obtained from the participants. All the fetuses with ultrasound diagnosed congenital anomalies were followed up till either termination of pregnancy or delivery. Ethical approval was obtained for the study. The data were analyzed using SPSS.Resultsa total of 418 high risk pregnant women underwent detailed fetal anomaly scan and CAs were detected in 13(3.1%) of them. Spontaneous abortion was the most common maternal risk factor reported although the association between it and congenital anomaly was not significant. The highest number of anomalies were detected in the genitourinary system while the least was in the central nervous system.Conclusionthe prevalence of high risk pregnant women is high in our environment but the incidence of CA among them is similar to that reported in the general population. Thus, prenatal ultrasonographic screening for congenital anomalies is necessary for all pregnant women irrespective of their risk status.

Tracheal agenesis: A rare but fatal congenital anomaly

In this report we describe a newborn with a rare case of Type II tracheal agenesis and bronchoesophageal fistula. Polyhydramnios and suspected esophageal atresia were identified during routine pre-natal ultrasound screening. Upon delivery, rigid bronchoscopy, esophagoscopy, and intraoperative fluoroscopy were performed, where both bronchi and the carina showed unusual horizontal orientation making it difficult to identify the fistula. However, a post mortem CT confirmed the diagnosis of an isolated Type II tracheal agenesis with bronchoesophageal fistula.

Intracardiac echogenic focus: Its importance during routine prenatal ultrasound screening in a black African population

Background: Intracardiac echogenic focus (ICEF) is defined as a small bright structure within the fetal heart with similar or greater echogenicity to the surrounding bone. The cause of ICEF is unknown, although it is generally believed to be a normal variant. However, several authors have reported a possible association between an ICEF and chromosomal abnormalities, while some others have found an association with structural cardiac anomalies. There are presently no data on this subject in sub-Saharan Africa about the possible correlation with other anomalies. Materials and Methods: This was a prospective, cross-sectional, hospital-based study in a native West African population that spanned 5 years and 5 months. All the pregnant women who presented for routine prenatal ultrasound screening for fetal anomaly between 18 and 22 weeks' gestation age during the study period were included in the study. The prevalence and pattern of ICEF and correlations with cardiac anomalies were determined. Results: In this study, 1.986 fetuses were evaluated for ICEF. The prevalence of ICEF was 2.2%, and more commonly (38.6%) seen in fetuses of mothers aged 30–34 years. Twenty-five percent (25%) occurred in fetuses of mothers that are older than 35 years. Most cases (65.7%) occurred in mothers that had no risk factors for the cardiac anomaly. Majority of the ICEF were solitary and within the left ventricle (95.5% and 93.2%, respectively). About 2.3% of the ICEF were biventricular. Among those that had further echocardiographic evaluation, 15% had major structural cardiac defects. Conclusion: A left ventricular ICEF may not indicate a normal variant in all cases. We propose the addition of detailed fetal echocardiography to rule out structural cardiac anomalies.

Fetal Megacystis: A New Morphologic, Immunohistological and Embriogenetic Approach

Congenital anomalies of the kidney and urinary tract (CAKUT) include isolated kidney malformations and urinary tract malformations. They have also been reported in Prune-Belly syndrome (PBS) and associated genetic syndromes, mainly 13, 18 and 21 trisomy. The AA focuses on bladder and urethral malformations, evaluating the structural and histological differences between two different cases of megacystis. Both bladders were examined by routine prenatal ultrasound screening and immunohistochemistry, comparing the different expression of smooth muscular actin (SMA), S100 protein and WT1c in megacystis and bladders of normal control from fetuses of XXI gestational age. Considering the relationship between the enteric nervous system and urinary tract development, the AA evaluated S100 and WT1c expression both in bladder and bowel muscular layers. Both markers were not expressed in the bladder and bowel of PBS associated with anencephaly. In conclusion, megacystis could be considered only a macroscopic definition, concerning the size of the fetal bladder rather than the embryologic origin; it may be a single or multiple malformation; the possible association with the bowel and/or encephalic malformations will decide the outcome and prognosis in fetal megacystis.

Pattern and outcome of prenatally diagnosed major congenital anomalies at a Nigerian Tertiary Hospital.

The prevalence of major congenital anomalies (CAs) shows wide variations depending on geographical location and may range from <1% to 8% and it causes between 20% and 30% of perinatal deaths. In Nigeria, the prevalence of CAs may be underestimated with the general reliance on mostly livebirths ranging between 0.5% and 2.8% exempting cases of miscarriage and abortions. The purpose of this study was to determine the epidemiologic pattern and outcome of major CAs detected prenatally at the University College Hospital, Ibadan, Nigeria, over a 4-year period. This hospital-based descriptive study highlights the prevalence and pattern of prenatally diagnosed fetal anomalies among the pregnant women who presented for routine prenatal ultrasound screening within the study period. Demographic details, associated risk factors, and fetal anomaly type in the fetuses were recorded using a prepared pro forma and were analyzed. Prenatal ultrasound screening for fetal anomalies was performed on 989 fetuses (including 15 sets of twins and 1 set of triplets) during the study period, out of which 62 (6.3%) had CAs. Of the 62 with CAs, 37 (59.7%) were major and 25 (40.3%) were minor. Majority of the fetuses with major anomalies were found among women aged 30-34 years and most were detected during the routine 18-22 weeks' anomaly scan. The major anomalies were most common in central nervous system. Nine (14.5%) pregnancies were terminated before term and 8 (29.6%) babies had different postnatal surgical interventions. Eleven (17.7%) of the fetuses with anomalies died in the perinatal period. CAs remain a major contributor to perinatal morbidity and mortality in Nigeria. Since most are idiopathic, early prenatal detection with ultrasound may facilitate improved diagnosis and the reduction of overall perinatal morbidity and mortality in the Nigerian setting.

Sonographic measurement of the fetal thymus: Relationship with maternal obesity.

The purpose of this study was to evaluate the influence of maternal obesity on the size of the fetal thymus. The study population consisted of 138 pregnant women who were divided into two groups based on their body mass index (BMI): Normal-weight group (n = 97; BMI: 18-25 kg/m2 ) and obese group (n = 41; BMI: ≥ 30 kg/m2 ). All participants underwent routine second-trimester prenatal ultrasound (US) screening at 20-25 weeks of gestation. Differences in US measurement of fetal thymus, fetal anthropometric measurements, subcutaneous adipose tissue thickness, fetal weight, gestational age, white blood cell count, and C-reactive protein (CRP) values between groups were compared. The mean thymus size was 18.7 ± 2.9 mm for normal-weight group, and 21.6 ± 3.7 mm for the obese group (p < 0.001). CRP values were also significantly different between groups (6.8 ± 4.4 mg/dl for normal-weight group, 14.8 ± 1.8 mg/dl for obese group, p < 0.001). Fetal thymus size was increased in obese women, and this increase may indicate immunologic abnormalities in fetuses. However, future large-scale studies are necessary to support this association. © 2016 Wiley Periodicals, Inc. J Clin Ultrasound 45:277-281, 2017.

Fetal Lymphatic Malformations: More Variable Than We Think?

Lymphatic malformations are benign lesions that result from abnormal development of the lymphatic and venous systems. These lesions may be detected during routine prenatal ultrasound screening, and typically demonstrate imaging findings of a multiseptate cystic lesion lacking solid components, vascularity, and calcifications. We report 73 cases of prenatally detected lymphatic malformations and describe greater variability in their prenatal sonographic appearance than previously reported, including purely cystic lesions and mixed cystic and solid lesions with calcifications. Appreciation of this increased variability is important in providing accurate prenatal diagnosis, counseling, and management.

Fetal Right Ventricular Diverticulum Detected by Prenatal Ultrasound Screening.

Prenatal ultrasound screening has allowed for the detection of in utero cardiac abnormalities. Specifically, distinction is possible between ventricular diverticula and aneurysms, which is important because each condition has a different clinical outcome. We report the case of a 35-year-old, gravida 1, para 1 woman, with no significant past medical history, who underwent routine prenatal ultrasound screening at 32 weeks' gestation. A four-chamber ultrasound of the fetal heart combined with M-mode echocardiography showed abnormal dilatation of the right ventricular chamber measuring 2.2 cm × 1.0 cm but with normal contractility. Delivery was performed at full term by cesarean section, and a right ventricular diverticulum was confirmed by postnatal cardiac computed tomography. The baby developed normally with no cardiac sequelae during followup. This case demonstrates the importance of making a correct diagnosis of ventricular diverticula by prenatal ultrasound when abnormal dilatation of the fetal ventricle is identified during routine screening. Because evaluating the wall contractility by M-mode ultrasound leads to evaluating whether it has the myocardium, we conclude that M-mode echocardiography is effective for the purpose of prenatal cardiac diagnosis and can distinguish between ventricular aneurysms and functioning ventricular diverticula.

Routine prenatal ultrasound anomaly screening program in a Nigerian university hospital: Redefining obstetrics practice in a developing African country.

Background:Congenital anomalies are among the leading causes of fetal and infant morbidity and mortality worldwide. Prenatal ultrasound (US) screening has become an essential part of antenatal care in the developed world. Such practice is just evolving in the developing countries such as Nigeria. The aim of this article is to present our initial experience and demonstrate the effectiveness of a prenatal US screening program in detecting congenital malformation in a developing country.Materials and Methods:This was a prospective evaluation of the prenatal US screenings conducted at a major referral hospital in Southwestern Nigeria. All pregnant women referred to the antenatal clinic for mid-trimester screening during the period of study were assessed.Results:Two hundred and eighty-seven pregnant women (5 with twin gestations) were presented for fetal anomaly scan during the study period. Twenty-nine anomalies (9.9%) were detected among the scanned population. Sixteen of the anomalies were followed to delivery/termination with a specificity of 93.5%. The commonest malformations were demonstrated in the genitourinary tract (34.5%) followed by malformations within the central nervous system (27.6%). Six (20.6%) of the anomalies were lethal. Five of the anomalies were surgically correctable.Conclusion:Institutions and hospitals across Nigeria and other low- and middle-income countries need to develop policies and programs that would incorporate a standardized routine screening prenatal US in order to improve feto-maternal well-being and reduce the high perinatal mortality and morbidity in developing nations.

Mediastinal teratoma with hydrops fetalis in a newborn and development of chronic respiratory insufficiency.

BackgroundMediastinal fetal teratoma can be detected as a mass in the chest during a routine prenatal ultra-sound screening. Because of the pressure on mediastinal structures it can be the cause of non-immune hydrops fetalis and polyhydramnion. The development of hydrops fetalis leads to fetal death or premature delivery in most reported cases. Early surgical removal is important, but, the result of treatment depends on the stage of development of mediastinal organs and complications in the postoperative period.Case report.A 31-year-old gravida carrying twins, with spontaneous membrane rupture at 32 weeks gestation underwent urgent caesarean section after antenatal ultrasound revealed severe polyhydramnion and hydrops fetalis in geminus A. The child was intubated immediately after birth due to severe respiratory distress. Ultrasound and X-ray revealed a tumour mass in the right hemithorax. Tumour resection was performed at the age of 7 days. Histology examination revealed an encapsulated immature teratoma. The postoperative course was complicated with respiratory insufficiency which turned into chronic at the age of eight months.ConclusionThis is the fifth reported child with fetal mediastinal teratoma and severe hydrops fetalis that survived the neonatal period. Additional diagnostic search revealed abnormal course of both pulmonary arteries, which was probably one of the main causes of respiratory insufficiency.

Prenatal ultrasound screening for external ear abnormality in the fetuses.

Objectives. To investigate the best time of examination and section chosen of routine prenatal ultrasound screening for external ear abnormalities and evaluate the feasibility of examining the fetal external ear with ultrasonography. Methods. From July 2010 until August 2011, 42118 pregnant women with single fetus during 16–40 weeks of pregnancy were enrolled in the study. Fetal auricles and external auditory canal in the second trimester of pregnancy were evaluated by routine color Doppler ultrasound screening and systematic screening. Ultrasound images of fetal external ears were obtained on transverse-incline view at cervical vertebra level and mandible level and on parasagittal view and coronal view at external ear level. Results. Five fetuses had anomalous ears including bilateral malformed auricles with malformed external auditory canal, unilateral deformed external ear, and unilateral microtia. The detection rate of both auricles was negatively correlated with gestational age. Of the 5843 fetuses undergoing a routine ultrasound screening, 5797 (99.21%) had bilateral auricles. Of the 4955 fetuses following systematic screening, all fetuses (100%) had bilateral auricles. The best time for fetal auricles observation with ultrasonography is 20–24 weeks of pregnancy. Conclusions. Detection of external ear abnormalities may assist in the diagnosis of chromosomal abnormalities.

The first case of Horn Kolb Syndrome in Turkey, diagnosed prenatally at the 23rd week of a pregnancy: A very rare and unusual case far from the original geography

SummaryBackground:The aim of this report was to evaluate and announce the first documented appearance of Horn Kolb syndrome in Turkey.Case Report:Acheiropodia (Horn Kolb Syndrome) is the bilateral congenital amputation of the distal parts of the 4 extremities. It is an autosomal recessive developmental disorder. The characteristic features are amputation of the upper and lower extremities with aplasia of the hands and feet. The disorder affects only the extremities without other systemic manifestations. In this report, we present the first known case of Horn Kolb syndrome in Turkey, along with the diagnostic features.Conclusions:Severe dysmorphic skeletal anomalies should be excluded as soon as the earlier gestational weeks in every pregnancy by visualizing all 4 limbs of the fetus in routine prenatal ultrasound screening.

Prenatal ultrasound screening for orofacial clefts

To evaluate the sensitivity and specificity of ultrasound for detecting prenatal facial clefts in low-risk and high-risk populations. This study prospectively followed up a non-selected population, namely all pregnant women who underwent routine second-trimester prenatal ultrasound screening in the Utrecht region during the 2-year period from January 2007 to December 2008. A total of 35 924 low-risk and 2836 high-risk pregnant women underwent ultrasound screening. Orofacial clefts were present in 62 cases, an incidence of 1:624. The distribution of clefts was as follows: 18 (29%) cleft lip, 25 (40%) cleft lip with cleft palate, 17 (27%) cleft palate only, one median cleft and one atypical cleft. Of these, 38 (61%) were unilateral and 23 (37%) were bilateral. Thirty-nine per cent (24/62) had associated anomalies, with most chromosomal defects found in the cleft lip with cleft palate and cleft palate only groups. Cleft lip with or without cleft palate was detected prenatally in 38/43 cases, a sensitivity of 88%. No case of cleft palate only was detected prenatally. There were three false-positive cases, of which two were fetuses with multiple congenital deformities. Ultrasound screening has a high sensitivity for the detection of cleft lip with and without cleft palate in high-risk and low-risk pregnancies in our region, where well-trained sonographers carry out primary screening. The key to a high sensitivity of prenatal ultrasound is likely to be a combination of excellent training of sonographers, referral to specialized centers when a cleft is suspected, routine visualization of the fetal face and advances in ultrasound techniques.

Diagnostic anténatal des cardiopathies congénitales dans une population à bas risque en Haute-Normandie : étude rétrospective de 2003 à 2007

Routine prenatal ultrasound screening for the detection of possible cardiopathy has existed in Upper Normandy since 1987, including the continuous training of obstetric ultrasonographers. We evaluated the profitability and the expected benefit of prenatal detection in a nonselected population in this region. A retrospective study was undertaken from October 2003 to September 2007 in the cardiopediatric units of Upper Normandy. All fetuses and infants with a diagnosed major cardiac defect were classified into 3 groups: no possibility of anatomic surgical repair (group 1), risk of early decompensation (group 2), and anatomic surgical repair possible but without early decompensation (group 3). Prenatal and postnatal mortality and morbidity were reported. One hundred and sixty-five major congenital heart defects were detected prenatally and 68 postnatally. The prenatal detection rate was 71% (93, 53, and 77% for groups 1, 2, and 3, respectively; p<0.0001). The rate of pregnancy termination was 92, 17, and 45%, respectively. The mortality rate tended to be higher in the undiagnosed group of urgent neonatal heart cases (10.6% vs 4.4%). The prenatal prevalence of abnormal karyotype was 21% and was 11.5% for congenital malformation syndrome. Prenatal detection of major cardiac defects has continued to attain high success in Upper Normandy. However, 50% of urgent neonatal heart cases often remain undiagnosed, and therefore the neonatologist must treat this patient population with particular care. Prenatal diagnosis can reduce preoperative mortality and morbidity of cardiopathy with a risk of early decompensation with specific neonatal intensive care.

Prenatal diagnosis of congenital heart defects—a population based study

The aim of this study was to describe the efficiency of routine prenatal ultrasound screening for the detection of cardiac defects in a Swedish region and to study the effect of prenatal diagnosis on the survival and outcome of the child. We identified all fetuses and infants with a diagnosed major cardiac defect born in 1999-2003 in a region of Sweden using a register of the regional paediatric cardiac clinic, various health-care registers and registers of prenatally detected malformations. The outcome of newborns with and without a prenatal diagnosis of a cardiac defect was compared. During the study period, 77,241 infants were born in the area. Among 145 major cardiac defects, 21% were detected prenatally. For the two university departments the detection rate was 38%. Of the major cardiac defects diagnosed <23 gestational weeks, 30% were terminated. No significant difference in the outcome was found between children with and without a prenatal diagnosis of a major cardiac defect. It could not be shown that survival and outcome for children with major cardiac defects was better when the defect was known prenatally than if it was detected postnatally. The size of the study prohibits conclusions on moderate differences.

Routine prenatal ultrasound screening for fetal abnormalities

Routine prenatal ultrasound screening for fetal abnormalities

Routine prenatal ultrasound screening for fetal abnormalities

Routine prenatal ultrasound screening for fetal abnormalities

F111Evaluation of routine prenatal ultrasound detection of fetal gastrointestinal malformations: European multicentric study

We have evaluated the effectiveness of routine prenatal ultrasound screening in detection of selected groups of major gastrointestinal malformations occurring among 690 123 pregnancies monitored from July 1st 1996 to December 31st 1998 in 19 European Congenital Malformation Registries. There were 243 cases of abdominal wall defects, 177 cases of diaphragmatic hernia and 386 cases of gastrointestinal atresia/stenosis. Only 57% of cases with diaphragmatic hernia and two thirds of cases of omphalocele compared to 95% of the fetuses with gastroschisis are currently being identified in an unselected population offered routine mid trimester ultrasound screening in europe. Among various cases of atresia/stenosis, the highest detection rate was recorded for duodenal (59%) and anorectal (32%) anomalies. Sensitivity of prenatal ultrasound clearly depends on the type of malformation and the presence of other structural anomalies or chromosomal aberrations. There is also significant variation in detection rates between different european regions reflecting policies, equipment and operators experience. The highest rates of elective top after prenatal ultrasound diagnosis were observed for omphalocele (50 or 36%), and gastroschisis (32 or 30%), and lowest for esophageal atresia (8%).

Efficacy of routine fetal ultrasound screening for congenital heart disease in normal pregnancy.

Second trimester routine ultrasound evaluation of the fetal heart by means of the four-chamber view has been proposed for prenatal detection of cardiac anomalies. The aim of this study was to evaluate the efficacy of this procedure. A prospective follow-up study on 6922 scanned fetuses was performed. Pregnant women without known risk factors who were scheduled for a routine fetal ultrasound examination between 16 and 24 weeks gestation were invited to participate. Follow-up until 6 months postpartum was available for 5660 subjects (81.8%), of whom 5319 fulfilled all eligibility criteria. by comparing the prenatal diagnosis to the postnatal diagnosis, we obtained sensitivity, specificity, and predictive value (positive and negative). A total of 80 cases of congenital malformations were diagnosed during the study: 44 cases of congenital heart disease, 40 cases of noncardiac malformations, and a combination of the two in 4 cases. The fetal four chamber-view examination was considered abnormal in 7 women who were subsequently referred for extensive fetal ultrasound examination. Two proved to be carrying an affected fetus. Similarly, prenatal referral of 14 women because of suspected noncardiac malformations yielded 12 such cases. The fetal four chamber-view examination had a sensitivity of 4.5% (95% CI, 0.6% to 15%). Sensitivity for noncardiac anomalies was 30% (95% CI, 16.6% to 46.5%). Overall sensitivity of ultrasound examination was 16.3% (95% CI, 2.09% to 48.8%). Specificity and negative predictive value were high (>98%). The positive predictive value was low with wide CIs. These results suggest that the current mode of routine prenatal ultrasound screening for congenital malformations is inefficient, particularly for cardiac anomalies.