Prenatal sonographic features of Harlequin ichthyosis

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.     

Prenatal ultrasonic diagnosis of arteriovenous malformation of the vein of Galen

A case of an arteriovenous malformation of the vein of Galen diagnosed in utero by ultrasound is presented. Upon review of the literature only two cases of prenatal sonographic diagnosis of this entity have been described. The prenatal sonographic features of this rare disorder are discussed.     

Fetal subependymal cysts with normal neonatal outcome. A case report

The authors report the prenatal sonographic diagnosis of subependymal cysts, confirmed by in utero MRI, in an apparently uneventful pregnancy. The sonographic appearance of the lesions, the obstetric management and the postnatal follow-up to one year are described. Special attention is paid to prenatal factors of neurological morbidity, rather than intrapartum and postnatal, thus emphasizing the importance of early and sequential evaluation of the developing fetal brain. Diagnosis, clinical significance and outcome of prenatal subependymal cysts are necessary for parental counselling and obstetric management. Furthermore, the detection of a prenatal brain injury may have remarkable medico-legal implications.     

Prenatal diagnosis of a fetus with distal 10q trisomy.

Distal 10q trisomy is a well-defined but rare syndrome. Most cases are diagnosed in infancy or in childhood and rarely include prenatal findings. We present a case of fetal distal 10q trisomy with abnormal prenatal sonographic findings. A 19-year-old primigravida was referred for genetic counselling at 18 gestational weeks because her husband had a familial history of congenital anomalies. Genetic amniocentesis was thus performed and showed fetal distal 10q trisomy (10q24.1-->qter), 46,XX,der(22)t(10;22)(q24.1;p11.2)pat, resulting from paternal t(10;22) reciprocal translocation. Level II ultrasonograms further demonstrated bilateral hydronephrosis, ventricular septal defect and facial dysmorphism ascertained by three-dimensional ultrasound. The pregnancy was terminated at 22 gestational weeks. Post-mortem autopsy confirmed the sonographic findings. We suggest that abnormal prenatal sonographic findings such as cardio-vascular, renal and facial malformations should alert cytogeneticists to search for subtle chromosomal abnormalities.     

Second trimester ultrasound screening for chromosomal abnormalities

The use of prenatal ultrasound has proven efficacious for the prenatal diagnosis of chromosomal abnormalities. The first sonographic sign of Down syndrome, the thickened nuchal fold, was first described in 1985. Since that time, multiple sonographically-identified markers have been described as associated with Down syndrome. The genetic sonogram, involving a detailed search for sonographic signs of aneuploidy, can be used to both identify fetuses at high risk for aneuploidy and, when normal, can be used to decrease the risk for aneuploidy for a pregnancy when no sonographic markers are identified. Combining the genetic sonogram with maternal serum screening may be the best method of assessing aneuploidy risk for women who desire such an assessment in the second trimester. Trisomy 18, Trisomy 13, and triploidy are typically associated with sonographically identified abnormalities and have a high prenatal detection rate. The use of the described sonographic signs in low-risk women requires further investigation, however, patients at increased risk for aneuploidy due to advanced maternal age or abnormal serum screening can benefit from a genetic sonogram screening for sonographic signs of aneuploidy to adjust their baseline risk of an affected fetus.     

Congenital midline porencephaly. Prenatal sonographic findings and review of the literature

A case of congenital midline porencephaly, including the prenatal sonographic findings, is presented. A review of the literature showed that six cases of congenital midline porencephaly have been reported, though none had sonographic evaluation in the prepartum period. The prenatal sonographic diagnosis of this rare disorder is discussed along with the clinical and pathologic findings and outcome of all reported cases.     

Aicardi syndrome: prenatal sonographic findings. A report of two cases

The prenatal sonographic findings in two children with Aicardi syndrome are reported.     

Megacystis-microcolon-intestinal hypoperistalsis syndrome. Prenatal sonographic findings and review of the literature

A case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a male infant followed with serial prenatal sonographic examinations is presented. Upon review of the literature, 26 cases of MMIHS have been previously reported of which only 3 were males. The prenatal sonographic diagnosis of this rare syndrome is discussed along with the clinical, pathologic findings and outcome of all reported cases.     

Prenatal sonographic features of congenital lobar emphysema

The prenatal sonographic features of congenital lobar emphysema (CLE) have not been well characterised. Five cases have been reported in the literature and on all these occasions either an echogenic (3) or a cystic (2) lung lesion was detected prenatally and the diagnosis was confirmed after the operation. This is the sixth case of CLE in the literature with prenatal sonographic features documented. The prenatal scans of a 23-year-old lady performed at 22 weeks of gestation revealed cystic lesions and increased echogenicity of the right fetal lung. There were no other anomalies and the karyotype was normal. The lesion decreased in size at 28 weeks and the baby was born by a normal vaginal delivery at 41 weeks. CT scan performed on day 6 confirmed cystic changes on the right lung with compression of the right lower lobe. A repeat CT scan performed at 4 months revealed extensive cystic changes in a hyper-inflated right lung and mediastinal shift to the left. At operation, abnormally inflated right upper and middle lobes were found suggesting a CLE. There were no subsequent complications after removal and histology confirmed CLE. The reported cases are reviewed and the prenatal sonographic features of CLE are discussed.     

Pseudocyst of the umbilical cord: prenatal sonographic appearance and clinical significance

OBJECTIVE: To assess the clinical significance of umbilical cord pseudocysts detected prenatally by sonography. METHODS: The prenatal sonographic findings, karyotype, and perinatal outcome in 13 fetuses with umbilical cord pseudocysts were reviewed retrospectively. RESULTS: Umbilical cord pseudocysts were diagnosed at a median gestation of 27 weeks (range 15-37). Pseudocysts were single in eight cases with cyst diameters ranging from 20 to 50 mm, and double in one case. In the remaining four cases, multiple small cystic masses measuring less than 8 mm were identified. Additional sonographic findings were noted in 11 cases; ten of these fetuses had prenatal karyotyping, which showed trisomy 18 in five cases, trisomy 13 in one case, and a 46,XX, inv ins(18;21) complement in one case. Among the seven chromosomally abnormal fetuses, umbilical cord pseudocysts were multiple in four fetuses and single in three. All chromosomally abnormal fetuses and two euploid fetuses with associated structural defects died in utero or in the neonatal period. There were no perinatal complications in either of the fetuses with isolated pseudocysts. CONCLUSION: The prenatal sonographic appearance of umbilical cord pseudocysts varied widely. These umbilical cord cystic masses were associated strongly with chromosomal disorders and structural defects, regardless of their sonographic appearance in utero.     

Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review

Apert syndrome is characterized by craniosynostosis, midfacial malformations and symmetrical syndactyly of the hands and feet. We report a case of prenatal sonographic diagnosis of Apert syndrome. Mild ventriculomegaly with normal head shape observed at 22 weeks gestation, followed by colpocephaly at 25 weeks gestation and bilateral syndactyly and subsequent craniosynostosis at 28 weeks, led to the prenatal diagnosis of Apert syndrome. The diagnosis was confirmed by physical examination and molecular study after birth. Additionally the authors present the review of literature on prenatal sonographic diagnosis of Apert syndrome.     

Committee Opinion No. 418: The Complete 11–14 Week Prenatal Sonographic Examination

ObjectiveSonography during the first trimester provides an opportunity to assess a pregnancy in its early stage. This document provides an opinion about the implementation and content of prenatal sonographic examinations at 11–14 weeks gestation in Canada.Target populationPregnant women at 11–14 weeks gestation.Benefits, harms, and costsThe 11–14 week prenatal sonographic examination can provide important information that may contribute to pregnancy management. It can be used to confirm viability, establish gestational age, determine the number of fetuses, assess the adnexa/ovaries, and, in a multiple pregnancy, assess chorionicity and amnionicity. Scanning also offers an opportunity to detect fetal abnormalities and perform aneuploidy screening by measuring the nuchal translucency thickness. It may be valuable in screening for preeclampsia and other obstetrical disorders (by combining uterine artery Doppler scanning with other bio-clinical markers) and for invasive placentation. There are no physical harms to mother or fetus from offering a routine 11–14 week prenatal sonographic examination, and there are no extra costs for patients.EvidenceArticles related to routine 11–14 week prenatal sonography were identified in a search of EMBASE and MEDLINE using the search terms first trimester ultrasound, nuchal translucency, and 11–14 week ultrasound. The search included all articles published on the topic until May 2019. Abstracts were reviewed by one author, and articles deemed relevant were then reviewed in full to determine whether to include them in the study. Articles that were not in English and articles that did not pertain to 11–14 week prenatal sonography were excluded.Intended audienceThis document is intended for sonographers, midwives, family physicians, obstetricians, and maternal–fetal medicine specialists.     

Prenatal diagnosis of complete trisomy 9: a case report and review of the literature

Complete trisomy 9 is a very rare chromosome aneuploidy, associated with specific patterns of multisystem dysmorphism and a wide spectrum of congenital anomalies. We present a case of complete trisomy 9 with prenatal sonographic findings in the second trimester. The combination of sonography and karyotyping from cordocentesis enabled us to establish the prenatal diagnosis. An additional clinical feature of this syndrome that has not been reported previously is an aortopulmonary communication. A review of the literature specifically dealing with prenatal sonographic findings with complete trisomy 9 is also presented.     

Sonographic diagnosis of fetal cerebral ventriculomegaly: An update

Dilatation of the fetal cerebral ventricles (ventriculomegaly) is a generic sonographic sign that is common to several pathological entities carrying different prognoses. The main causes of fetal ventriculomegaly are aqueductal stenosis, Chiari II malformation, Dandy–Walker complex, and agenesis of the corpus callosum.

Ventriculomegaly is easily recognized by ultrasound by measuring the atrial width. This simple measure allows the recognition of mild forms of ventricular dilatation and is used in screening for ventriculomegaly. However, although the diagnosis of ventriculomegaly is easy, the prenatal identification of the cause of ventricular dilatation is a more difficult task. For this purpose the evaluation of the posterior fossa in association with the visualization of the corpus callosum is useful. Research into the causes of ventriculomegaly is clinically useful, since the prognosis mainly depends on the etiology and on the presence of associated abnormalities.

In this article the role of prenatal sonography in determining the cause of the ventriculomegaly is reviewed, as well as the prognostic value of the prenatal sonographic findings.     

Fehlbildungen des Thorax und des Abdomens

This article presents the spectrum of congenital intrathoracic and intra-abdominal malformations. In addition to a summary of epidemiological associations, prenatal observations of sonographic morphological and echocardiographic characteristics, pathogenetic hypotheses and consideration of possible associated syndromes or anomalies and comorbidities, prenatal and postnatal therapy options are also discussed.     

Prenatal diagnosis of congenital neuroblastoma. Analysis of 4 cases and review of the literature

OBJECTIVE: Advances in prenatal diagnostics during the last 10 years have enabled the examiner to detect even rare fetal disorders such as fetal tumours. Congenital neuroblastoma is the most frequent solid neoplasm in infancy, with a retroperitoneal cystic or solid mass being a sonographic sign of the conditions. METHODS: We present 4 cases of neuroblastoma showing suspicious prenatal ultrasound findings. The investigation comprises detection during pregnancy, typical sonographic signs, as well as the postnatal outcome. In addition, a review of the literature is undertaken with a focus on prenatal sonographic signs of congenital neuroblastomas. RESULTS: In all 4 cases, a cystic tumour was detected during the 3rd trimester of pregnancy by means of B-mode sonography. One boy died of disseminated metastases at the age of 26 months. The other 3 survived after surgery and have remained healthy. CONCLUSIONS: The detection of a cystic suprarenal mass is suspicious of a congenital neuroblastoma. The delivery should take place at a perinatal centre.     

Intrinsic intrathoracic malformations of the fetus: sonographic detection and clinical presentation

Intrinsic intrathoracic malformations are a rare group of congenital anomalies associated with high fetal and neonatal mortality rates. The antenatal sonographic appearance and the adequacy of diagnosis in 15 affected fetuses were evaluated. An accurate prenatal diagnosis was made in 12 cases; the precise nature of the intrathoracic defect was incorrectly categorized in two fetuses, and the defect was missed entirely in one affected fetus. Antenatal detection and characterization of intrinsic intrathoracic congenital malformations seems possible, but requires a high index of suspicion, familiarity with their sonographic appearances, and meticulous attention to detail.     

胎儿Dandy-Walker综合征6例分析及文献复习

目的：探讨胎儿Dandy-Walker综合征的超声影像学特征、诊断及处理。方法：总结6例胎儿Dandy-Walker综合征病例,复习有关文献,讨论胎儿Dandy-Walker综合征的超声影像学特征、诊断及处理。结果：6例患者中有3例于妊娠中期超声检查发现胎儿Dandy-Walker综合征,经羊膜腔穿刺胎儿核型分析发现染色体异常后引产,另3例于妊娠晚期超声发现胎儿Dandy-Walker综合征,1例引产,2例分娩后CT检查未发现明显异常。结论：掌握胎儿Dandy-Walker综合征的超声影像学特征,早期识别,及时产前诊断,正确处理,对降低Dandy-Walker综合征胎儿出生率至关重要。     

The role of ultrasonography in recognizing the cause of fetal cerebral ventriculomegaly

Dilatation of the fetal cerebral ventricles (ventriculomegaly) is a generic sonographic sign common to several pathological entities carrying different prognoses. The main causes of fetal ventriculomegaly are aqueductal stenosis, Chiari II malformation, Dandy-Walker complex and agenesis of the corpus callosum. Ventriculomegaly is easily recognized by ultrasound by measuring the atrial width. This simple measure allows the recognition of mild forms of ventricular dilatation and is used as a screening method for ventriculomegaly. However, although the diagnosis of ventriculomegaly is easy, the prenatal identification of the cause of ventricular dilatation is a more difficult task. To this end, the evaluation of the posterior fossa in association with the visualization of the corpus callosum is a useful landmark. Research into the cause of ventriculomegaly is clinically useful, since the prognosis mainly depends on the etiology and on the presence of associated anomalies. In this article the role of prenatal sonography in recognizing the cause of ventriculomegaly and the prognostic value of the prenatal sonographic findings are discussed.     

Soft tissue nuchal fold in the second-trimester fetus: standards for normal measurements compared with those in Down syndrome

There are several reports describing the sonographic sign of a thickened nuchal fold for the prenatal sonographic detection of Down syndrome in the second trimester. We prospectively obtained normative data on the nuchal folds of 303 consecutive normal fetuses undergoing genetic amniocentesis between 15 and 20 weeks' gestation. The data show that the width of the nuchal fold was consistently between 1 and 5 mm regardless of gestational age (15 to 20 weeks).