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.     

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 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.     

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.     

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.     

Ultrasound and genetic features of a term triploid pregnancy.

A 69,XXY triploid term infant is reported to demonstrate the prenatal sonographic findings of first trimester intrauterine growth retardation as an important early indicator of this diagnosis. Progressive lag in early sonographic dating for gestational age should raise suspicion of triploidy, which can lead to an early diagnosis, genetic counseling, and a realistic management plan.     

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.     

Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling

We report a case of prenatal diagnosis of trisomy 20p resulting from a maternal pericentric inversion. The diagnosis was confirmed on both chorionic villi and amniotic cells. This case underlines the fact that prenatal ultrasound diagnosis of this structural anomaly is difficult. The only early sonographic feature was increased nuchal translucency.     

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.     

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.     

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.     

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。     

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.     

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

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

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.     

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.     

产前胎儿超声异常标记作为侵入性产前诊断指征的临床应用

目的:探讨产前胎儿超声异常标记作为侵入性产前诊断指征的临床应用。方法:选择由于产前超声检查见胎儿异常标记而行产前胎儿染色体核型分析的孕妇750例,检测胎儿的染色体异常率。对孕妇年龄<35岁(A组,n=658)与≥35岁(B组,n=92)、超声检查到胎儿有单项异常标记(C组,n=496)与胎儿有≥2项异常标记(D组,n=254),分别比较染色体异常率。结果:750例孕妇中检出胎儿染色体数目异常44例,胎儿染色体异常率为5.9%。A组检出染色体异常率为4.6%(30/658),显著低于B组的15.2%(14/92)(P<0.01)。C组检出染色体异常率为2.8%(14/496),显著低于D组的11.8%(30/254)(P<0.01)。结论:胎儿超声异常标记作为侵入性产前诊断指征,会有较多的胎儿染色体异常被检出,但须合理和谨慎选择。     

Robinow's syndrome: prenatal diagnosis

The prenatal diagnosis of Robinow's syndrome was accomplished in our case by measuring the length of the long bones and the ulna/humerus ratio. Although the prenatal sonographic appearance did not show the typical 8-week fetal face, pathological findings confirmed this particular feature. In view of the strongly suggestive family history, the authors consider the possible mechanisms of genetic inheritance.     

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.