Fetal intra-abdominal tumors: assessment of spectrum,accuracy of prenatal diagnosis,perinatal outcome and therapy at a tertiary referral center

Objective

To describe the varieties and ultrasound characteristics of prenatally diagnosed fetal abdominal tumors and to scrutinize the accuracy of prenatal diagnosis as well as the postnatal outcome and therapy of affected pregnancies.

Study design

Retrospective study of 354 fetuses found to have abdominal tumors on prenatal sonogram, identified from 1993 to 2009 at a tertiary referral center for prenatal medicine. The cohort was classified into subgroups according to the sonographic appearance of the fetal tumor and the affected anatomic structure (urinary, gastrointestinal and genital tracts and other locations). Sensitivity, specificity, positive predictive value and false-positive rate of ultrasonography in identifying the system of origin were calculated. Relationships between relevant outcome domains and the different subgroups were assessed using the chi-square test and Fisher's exact test.

Results

Our cohort comprised 222 urinary tract lesions, 37 genital tract lesions, 80 gastrointestinal lesions and 15 tumors of other origins. The mean gestational age at diagnosis was 26 + 0 wks. The prenatally established diagnosis was exactly concordant with postnatal findings in 88.9%. Sensitivity, specificity, positive predictive value and false-positive rate of ultrasonography in identifying the system of origin (urinary, gastrointestinal, genital tracts and other locations) were 98.3%, 97.6%, 92.6% and 2.4%, respectively. The favorable postnatal outcome rate was highest among fetuses with genital tract lesions (95%) and lowest among those with tumors of the urinary tract (62%, p = < 0.001). Twenty per cent of tumors regressed spontaneously, mostly gastrointestinal tumors (36%, p = < 0.001). In 75/354 cases (21%) the parents opted to terminate the pregnancy: intra-uterine fetal demise and neonatal death were each noted in 4%. Prenatal therapy was performed in 24 of 354 cases (7%) and postnatal surgery in 64 cases (18%).

Conclusion

The majority of fetal abdominal anomalies were accurately diagnosed and the vast majority of affected fetuses had a favorable outcome, some tumors even resolved with advancing pregnancy. Pre- and post-natal invasive surgical interventions were mandatory in only a small number of cases.     

Fetal intracranial hemorrhage: sonographic criteria and merits of prenatal diagnosis

Purpose: To determine the sonographic criteria for diagnosis of fetal intracranial hemorrhage (ICH), using both gray scale ultrasound, and tomographic ultrasound imaging (TUI).

Materials and methods: A prospective multicenter study, recruiting patients at risk of fetal ICH over four years. All cases with fetal ICH had serial ultrasound assessments, including TUI, fetal and postnatal MRIs.

Results: Twenty-one patients were diagnosed with fetal ICH, two cases had extracerebral (subdural) hemorrhage, 16 cases had intracerebral (intraventricular) hemorrhage and three cases had combined hemorrhage. The mean gestational age at which they were diagnosed was 29.8?±?5.2 weeks. Seventy-six percent of cases had no identifiable risk factors. IUGR was associated with 57.9% of cases. Using grey scale ultrasound, we demonstrated clear cut sonographic criteria for diagnosis of fetal ICH. TUI enabled us to detect some midline cerebral lesions not detected by grey scale 2D ultrasound alone. Fetal and postnatal MRI confirmed those findings.

Conclusion: Ultrasonography can be used in the detection, classification and monitoring the progression of various types of ICH. TUI is an additional diagnostic tool that might help to detect the exact size, and extent of those lesions. Fetal MRI is not superior, but might aid in the diagnosis.     

Fetal ovarian cysts. Our clinical experience over 16 cases and review of the literature

Objective.?Fetal ovarian cysts are intra-abdominal structures frequently diagnosed prenatally, tending to present as isolated unilateral lesions in normal fetuses in the third trimester. These cysts may present with complications and their diameter and echogenicity are the main criteria for establishing their prognosis. Spontaneous regression of fetal ovarian cysts is very usual. In the present study, we present our clinical experience on fetal ovarian cyst surveillance and treatment, as well as a review of the literature in the same field.

Material and method.?In this study, we reviewed pre- and postnatal medical records and ultrasonography of 16 fetuses that were diagnosed with ovarian cysts, in Obstetrics Department of University Hospital of Alexandroupolis, between January 2000 and April 2010. We have also reviewed the available literature about fetal ovarian cysts.

Results.?In a total of 16 cases, postnatal surgery was performed in one infant due to ovarian cyst torsion. In the remaining 15 cases, cysts regressed completely in two fetuses during pregnancy and all the rest of the cysts, including four complex ones, resolved spontaneously after birth.

Conclusions.?When fetal ovarian cysts are detected, they should be followed up by serial ultrasonographic examinations. The majority of them will regress spontaneously in a period of 12 months after birth, independent of their sonographic findings. Only symptomatic cysts or cysts with a diameter >5 cm, which do not regress or enlarge, should be treated.     

Sensitivity of prenatal ultrasound for detection of trisomy 18

Objectives: To evaluate the sensitivity of prenatal ultrasound (US) for trisomy (T18) diagnosis and describe US findings in a large tertiary care institution in the USA.

Materials and methods: This was a retrospective cohort of all T18 cases diagnosed at our institution from October 2004 to October 2014 based on prenatal or postnatal genetic diagnostic testing. We included all women with a fetus affected by T18 who had a comprehensive US by a maternal–fetal medicine specialist performed at our institution. US findings were reviewed, classified by organ system, and categorized as an anomaly or soft marker. Chi-square or t-test was used for statistical analysis.

Results: We included 128 cases of T18 with confirmed cytogenetic analysis ?110 (86%) of which were diagnosed prenatally or suspected by cell-free DNA and confirmed postnatally, and 18 of which underwent neonatal blood sampling alone. One hundred and twenty-one (95%) had at least one abnormal US finding. Anomalies were more frequently identified on US at ≥20 weeks as compared with <20 weeks (93% versus 76%; p?=?.004). The mean number of findings detected per fetus was 5.1?±?3.0. Fetuses diagnosed by postnatal sampling alone had a similar number of US exams performed and number of abnormal findings compared to those diagnosed prenatally.

Conclusion: Ninety-five percent of fetuses with T18 had at least one abnormal US finding. This sensitivity of is higher than reported in most prior studies, but is not 100%, and should be considered when counseling women regarding prenatal diagnosis of T18.

Rationale: Historical detection rates for abnormal sonographic findings in trisomy 18 fetuses range from 70% to 100%. These studies are limited by small sample sizes. This is a contemporary study of ultrasound findings in a large group of women with confirmed trisomy 18 by prenatal or postnatal genetic diagnosis. We provide expansive detail on soft markers and anomalies broken down by organ-system and gestational age.     

Outcome of sonographically suspected fetal ovarian cysts

Abstract

Objective: Fetal ovarian cysts (FOCs) are the most common intra-abdominal cystic structures formed during antenatal period. The aim of this study was to evaluate prenatal characteristics and postnatal outcome of sonographically suspected FOCs.

Methods: We reviewed prenatal sonographic data and postnatal medical records of 29 fetuses that were suspected to have ovarian cysts in our hospital, between January 2001 and September 2012. Perinatal outcomes were obtained for all cases.

Results: In a total of 29 cases, we confirmed initial antenatal diagnosis of ovarian cyst in 20 cases (68.9%) at postnatal period. Diagnosis of remaining nine cases revealed urogenital sinus anomaly in four cases, multicystic dysplastic kidney in two cases, mesenteric cyst in one case, intestinal duplication cyst in one case and lymphangioma in one case postnatally. In seven of the 20 ovarian cysts (35%), resolution of the cyst occurred prenatally. Intrauterine death of a fetus occurred at second trimester. In the postnatal period, most often cases (11/20) were spontaneously resolved and surgery was performed on two babies due to ovarian torsion (2/20).

Conclusion: Differential diagnosis of FOCs should always include genitourinary tract disorders, gastrointestinal tract disorders and other intra-abdominal cystic structures.     

The Fetal vermis,pons and brainstem: normal longitudinal development as shown by dedicated neurosonography

Abstract

Objective: To describe the normal appearance and the growth of the fetal vermis, pons and midline brainstem by ultrasound from 18 weeks of gestation to term in order to produce developmental nomograms.

Methods: Serial ultrasound examinations of the fetal brain were performed in 21 fetuses between 18 and 39 weeks of gestation every two weeks. A total of 173 examinations were done, 8.2?±?5.2 examinations per fetus. A mid-sagittal plain of the brain was obtained either by transvaginal or transabdominal sonography. Antero-posterior, cranio-caudal diameters, and surface area of the pons and the vermis were measured. The surface area of the brain stem was also measured. Nomograms were produced according to Royston and Wright.

Results: The pons, vermis and brain stem grow in a linear fashion throughout pregnancy. The growth pattern correlates well with gestational age, biparietal diameter, head circumference and the cerebellar transverse diameter.

Conclusions: We have provided nomograms for assessment of the fetal brainstem. The present information supplies tools for the accurate identification of fetal mid-hindbrain anomalies providing a solid basis for a multidisciplinary approach, management and counseling of these conditions.     

Role of fetal autopsy as a complementary tool to prenatal ultrasound

Abstract

Aim: To correlate and compare prenatal ultrasound with fetal autopsy examination to detect structural births defects and provide specific diagnoses.

Methods: 141 second trimester fetuses (<20 weeks and <500?g) where pregnancy was terminated for structural birth defects and/or severe intra-uterine growth restriction (IUGR) or intra-uterine death, referred to our tertiary care private, teaching hospital were examined by a team of experienced pathologist and clinical geneticist. Findings of pathology examination were compared to those provided by ultrasound examination.

Results: A total of 301 structural abnormalities were noted. Specific etiology was identified or syndromic diagnosis was possible in 57/141 (40.4%) cases. The maximum number of systemic anomalies (45/301, 14.95%) was noted in the central nervous system (CNS). CNS anomalies were most commonly associated with facial dysmorphism including cleft lip/palate etc. There was a complete agreement between ultrasound and autopsy findings in 41/141 (29.07%) cases, additional information that did not influence the final diagnosis and/or counseling was obtained by autopsy in 65/1416 (46.09%) cases, while additional information that influenced the final diagnosis and/or counseling was provided by autopsy in 35/141 (24.82%) cases.

Conclusion: Fetal autopsy serves as a complementary tool to fetal ultrasound due to its ability to pick up minor anomalies and/or anomalies that were missed on ultrasound. It may be routinely performed as an attempt to reach a specific diagnosis and offer appropriate counseling to couples, following pregnancy termination for fetal anomalies.     

Williams-Beuren syndrome: the prenatal phenotype

Using prenatal BACs-on-Beads technology, the first prenatal case of Williams-Beuren syndrome (WBS) was diagnosed. In light of this result, an ultrasound scan confirmed the presence of well-characterized features of WBS. This case report emphasizes the fact that new genomic technologies will generate prenatal information and provide helpful additional information.     

Ultrasonographic diagnosis of fetal ovarian cysts: Five cases in five years

Objective. To evaluate the outcome of ultrasonographically diagnosed fetal ovarian cysts within a 5-year period.

Methods. This was a retrospective evaluation of the prenatal and postnatal medical records of the five cases of fetal ovarian cyst diagnosed at our institution from January 2002 to December 2006.

Results. The mean gestational age at diagnosis was 31.6 weeks. One of the patients had type I diabetes and another had chronic hypertension and preeclampsia. The mean cyst diameter at diagnosis was 38.3 mm (range 29–60 mm). When diagnosed, four of the cysts were simple and the other was septated. During pregnancy, the septated cyst and two of the simple cysts became hemorrhagic. Postnatally the septated cyst and two of the simple cysts underwent spontaneous remission; the other two cases, corresponding to hemorrhagic cysts, were surgically removed after birth.

Conclusions. The best clinical approach to a fetal ovarian cyst is controversial. In this small series, three of the five cysts regressed spontaneously, including a hemorrhagic one. Once a fetal ovarian cyst is diagnosed, ultrasonographic monitoring should be provided in order to identify complications and define the best therapeutic approach.     

Invasive fetal therapies: approach and results in treating fetal ovarian cysts

Objective.?To show the validity of prenatal invasive surgical intervention when a fetal ovarian cyst is diagnosed, compared to a wait and see attitude, in order to avoid possible prenatal and postnatal complications.

Patients.?Fourteen cases of intra-abdominal cysts monitored in our center between April 2005 and November 2010. All cases were first diagnosed in the third trimester, and were monitored for the remainder of the pregnancy and after delivery (2 months–3 years postnatally).

Surgical intervention.?Upon maternal and fetal cutaneous anesthesia performed trans-amniotically, the cystic fluid (mean contents 43.85 cc, DS 46.27) was extracted for cytological, biochemical, and hormonal examination.

Results.?Thirteen cases of intra-abdominal cysts (92.8%) were fetal ovarian cysts. Ninety-two percent of pregnancies bearing such a condition were successfully concluded (n?=?12). Sixty-nine percent concluded in vaginal delivery (n?=?9). None experienced maternal and/or fetal complications. Every drained cyst had an estradiol concentration higher than 10,000 pg/ml.

Conclusions.?The aspiration of ovarian cysts exceeding a 40 mm diameter, performed as early as possible, allows a good longitudinal treatment of this fetal affection, thus avoiding torsion, tissue necrosis, and invasive postnatal surgery, as well as giving hope of future gestational capability to the fetus/newborn.     

产前超声诊断胎儿右房异构一例

本文报道产前超声诊断胎儿右房异构一例。孕妇孕24周产前超声检查发现胎儿左位心合并复杂心血管畸形(右心室双出口、房室间隔缺损、肺动脉发育不良、双侧上腔静脉、心下型完全型肺静脉异位引流)、胃泡位于腹腔右侧、中位肝、可疑无脾、腹主动脉与下腔静脉位于脊柱左侧、双侧支气管呈右侧支气管对称形态,综合考虑右房异构可能。引产后经尸体解剖证实脾脏发育不良、右房异构。右房异构常合并复杂心血管畸形,因此产前超声发现复杂心血管畸形时,应警惕右房异构的可能。右房异构病死率极高,产前诊断具有重要意义。     

Diagnostic accuracy of non-invasive fetal RhD genotyping using cell-free fetal DNA: a meta analysis

Abstract

Objective: To determine the diagnostic accuracy, validity, current limitations of, and possible solutions to, fetal RhD genotyping from maternal blood based on existing studies written in English.

Methods: A literature search was conducted that described fetal RhD determination from maternal blood. The number of samples tested, fetal RhD genotype, the source of cell-free fetal DNA, gestational age and fetal Rh type were examined in each study to calculate the accuracy, sensitivity and specificity of fetal RhD genotyping.

Results: Forty-one publications, which included 11?129 samples with non-invasive Rh genotyping of cell-free fetal DNA from maternal blood, were selected. After the exclusion of 352 inconclusive samples, the overall diagnostic accuracy was 98.5% (10?611/10?777), and sensitivity and specificity were 99% and 98%, respectively. First trimester diagnosis showed an accuracy of 99%, higher than second and third trimester diagnosis. Thirty studies reported a 100% diagnostic accuracy of fetal RhD genotyping.

Conclusion: Non-invasive fetal RhD genotyping from maternal blood has high accuracy, sensitivity and specificity. Methods reducing false results have been explored and applied in research. These achievements indicate that this technique will be widely used in routine clinical care.     

Acrofacial dysostosis syndromes: A relevant prenatal dilemma. A case report and brief literature review

The acrofacial dysostosis (AFD) syndromes are an heterogeneous group of disorders with undefined classification and inheritance. We report the sonographic and clinical features of an AFD fetus with predominantly pre-axial forms. We made a prenatal diagnosis of Nager syndrome but postnatal examination showed post-axial defects previously undetectable by ultrasound.     

Prenatal diagnosis of fetal gastroschisis using three-dimensional ultrasound: Comparison between the 20th and 21st centuries

ObjectiveIn order to compare the trends and improvements of prenatal diagnosis of gastroschisis, we herein retrospectively reviewed our cases of fetal gastroschisis detected by three-dimensional ultrasound (3D US) between the two centuries.Materials and MethodsWe reviewed our computer database of prenatal diagnosis on gastroschisis in National Cheng Kung University Hospital from October 1994 to November 2011. All the fetuses were initially scanned by two-dimensional (2D) US to locate the region of interest (ROI). Then, the 3D probe was used to scan all the ROI systematically and mechanically, and all the images were stored on laser discs for further 3D visualization and reconstruction. To compare the characteristics at prenatal diagnosis of gastroschisis between the 20th and 21st centuries in our hospital, the Chi-square test and Student t test were used. The p values less than 0.05 and 0.1 were considered statistically significant.ResultsIn total, 26 fetuses with gastroschisis were depicted by 3D US in utero (10 cases were diagnosed in the 20th century and 16 cases in the 21st century). The ranges of gestational age at prenatal diagnosis of gastroschisis by 3D US in the 20th century were between 14 and 34 weeks (mean: 21.6 weeks) and between 14 and 33 weeks (mean: 21.9 weeks) in the 21st century. Moreover, seven cases (70%) were diagnosed before the third trimester in the 20th century, whereas 13 cases (81%) were diagnosed before the third trimester in the 21st century.ConclusionAlthough without statistical significance, higher prenatal diagnosis rate before the third trimester in the 21st century was noted. The improvement of 3D US has remarkable advantages in adding novel visual depiction of a 3D lesion of a 3D fetus in 3D US after reconstruction and thus assists substantially in prenatal diagnosis, genetic consultation, and perinatal management of gastroschisis.     

胎儿游离RNA在产前诊断中的研究进展

传统产前诊断依靠有创性操作,具有潜在风险。目前无创性产前诊断方法集中于从母体血液中分离胎儿细胞或从血清或血浆中提取胎儿游离DNA,二者在临床的应用尚存不足。近年,妊娠妇女血循环中游离胎儿RNA的发现和应用,是无创性产前诊断领域的突破。已经证实,游离胎儿RNA分子主要来源于胎盘,在母体血循环中比较稳定,易于检测。同时,由于其无需依赖于胎儿性别或是父源性多态性位点,临床应用领域优于胎儿游离DNA;结合对分子标记物的定量检测方法更适用于产前诊断领域,并已取得初步成果。预测其具有很好的应用前景。     

Early prenatal ultrasound diagnosis of congenital thoracic malformations

Objectives: To evaluate and describe the spectrum and rate of congenital thoracic malformations (CTMs) diagnosed by early prenatal sonography (gestational age (GA) less than 16 weeks).

Methods: A retrospective, cross-sectional analysis of prenatal ultrasound screening tests in a community-based clinic.

Results: In 2001–2017, 31 261 prenatal ultrasound tests detected 31 CTMs at a gestational age of 15.2 (range, 11.6–16.0) weeks. The most common malformation was congenital pleural effusion (CPE) (15 fetuses, 0.48/1000), followed by congenital diaphragmatic hernia (CDH) (10 fetuses, 0.32/1000). Pulmonary hypoplasia (PH), congenital pulmonary airway malformation and broncho-pulmonary sequestration appeared in much smaller proportions (three, two and one fetuses, respectively). Most CTMs were associated with additional fetal lesions (15 fetuses, 48%). All early CDH (10 fetuses) and PH (three fetuses) and 6/15 with CPE had termination of pregnancy or missed abortions.

Conclusions: Prenatal ultrasound before 16 GA was able to detect CTMs in 0.99/1000 of screening ultrasound (US) performed. Most CTMs tended to appear with multiple lesions and were associated with unfavorable outcomes. Earlier prenatal diagnosis may enable early termination of pregnancy in fetuses with lethal malformations.     

Concurrent maternal and fetal ovarian cysts

Due to improvements in ultrasonography, the detection of fetal abdominal masses has increased. We describe a case of co-existing maternal and fetal ovarian cysts in a 37-year-old primiparous woman. The fetal ovarian cyst was first identified in the third trimester and reached a maximum diameter of 9?cm. The maternal cysts were present from 20 weeks onwards; with a maximum diameter of 8?cm. Histological examination showed the maternal lesions were benign dermoid cysts. The fetal lesion resolved spontaneously by 5 months. This case illustrates that fetal and maternal ovarian cysts may co-exist and could potentially have a similar hormonal etiology.     

细胞游离胎儿DNA产前诊断胎儿非整倍体异常

细胞游离胎儿DNA(cffDNA)已被成功在妊娠妇女血循环中检测到。与母体血循环中胎儿细胞不同,cffDNA最早可在妊娠4周检测出,并能在产后迅速消失。cffDNA可能源于胎盘部位的滋养细胞等并通过凋亡机制释放进入母体血循环中。通过检测cffDNA可产前诊断胎儿非整倍体异常,但因其在妊娠妇女血中含量较少,检测具有挑战性。目前已有多种新检测方法用于非整倍体异常的产前诊断,尚需不断完善。