To establish a fetal biparietal diameter (BPD)-gestational age formula based on the data of pregnant women from Xiaoshan District of Hangzhou, and to evaluate its application in prenatal screening.Data of 3500 pregnant women with gestational age between 15 weeks and 19 weeks+6 receiving prenatal screening in Xiaoshan Hospital during May 2014 and May 2015 were collected. BPDs were used to establish a localized BPD-gestational age formula. The localized formula was used to evaluate the prenatal screening risks in 1759 pregnant women with irregular menstrual cycles or uncertain last menstrual period (LMP) in Xiaoshan District, and the results were compared with those calculated using formula in LifeCycle 4.0.With localized formula, the total positive rate of Down syndrome, trisomy 18 syndrome and deformity of neural tube was decreased from 6.96% to 5.85% (<0.05), in which the positive rate of Down syndrome decreased (<0.05), that of deformity of neural tube increased (<0.05), and that of trisomy 18 syndrome remained the same (>0.05). The median MoMs of free-hCG β and α-fetoprotein calculated using localized formula were significantly different from those calculated using the formula in LifeCycle 4.0 (all<0.05), and the former ones were more closer to 1. For women of fetus diagnosed with the above diseases, the positive rate calculated using localized formula was almost the same as that calculated using the formula in LifeCycle 4.0.BPD-gestational age formula should be localized based on the statistical analysis of the local population, which will help to reduce the false positive rate, and make the results more accurate and reliable in prenatal screening.
Adult ; Body Weights and Measures ; standards ; Cephalometry ; standards ; statistics & numerical data ; Chorionic Gonadotropin, beta Subunit, Human ; blood ; standards ; Chromosomes, Human, Pair 18 ; Down Syndrome ; diagnosis ; embryology ; Epidemiologic Measurements ; Female ; Fetal Development ; Gestational Age ; Head ; embryology ; Humans ; Mass Screening ; methods ; standards ; statistics & numerical data ; Menstrual Cycle ; Neural Tube Defects ; diagnosis ; embryology ; Pregnancy ; Prenatal Diagnosis ; methods ; standards ; statistics & numerical data ; Reference Values ; Trisomy ; diagnosis ; Trisomy 18 Syndrome ; alpha-Fetoproteins ; analysis ; standards

This report presents a case of fourth ventricle neurenteric cyst (NE cyst) mimicking hemangioblastoma, which developed in a 50-year-old woman. A tiny enhancing mural portion of the fourth ventricle in MRI suggested that the cyst was hemangioblastoma, but pathological evidence showed that the cyst was in fact NE cyst in the fourth ventricle. In order to make proper decision on to what extent of surgical resection should be done, considering every possibility in differential diagnosis might be helpful. This case reports an unusual pathology in 4th ventricle, considering the patient's age, and demonstrates that a rarer disease may share radiological features of a common disease.
Diagnosis, Differential ; Female ; Fourth Ventricle* ; Hemangioblastoma* ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Neural Tube Defects* ; Pathology

STUDY DESIGN: Retrospective cohort study. PURPOSE: To compare long-term results of surgery with the outcomes of symptomatic and asymptomatic tethered cord syndrome (TCS) in children and adolescents and to assess the surgery duration for those with TCS. OVERVIEW OF LITERATURE: Pediatric patients with TCS continue to pose significant diagnostic and management challenges. METHODS: We retrospectively analyzed the outcomes of 31 patients (16 males, 15 females) with TCS, including 21 with lumbosacral lipoma. All were surgically treated between 1989 and 2015. They were divided into symptomatic and asymptomatic TCS groups. The results of the treatment were summarized and analyzed using a non-parametric Mann–Whitney U test. RESULTS: Nineteen patients had symptomatic TCS and 12 had asymptomatic TCS. Patients had a median age of 34 months (range, 0–201 months). The median follow-up period was 116 months (range, 7–223 months). Of the 19 symptomatic TCS patients, preoperative deficits improved after surgery in two (10.5%) and remained stable in 17 (89.5%) patients. One of the 12 asymptomatic TCS (8.3%) patients showed an exacerbated illness after surgery, and one in 11 patients remained stable (11.7%). There were significant differences in monthly age at surgery, preoperative bowel and bladder dysfunction, neurological function, presence/absence of clean intermittent catheterization introduction, and presence/absence of motor disorder at final follow-up (all p<0.05). In the univariate analysis, the presence/absence of preoperative bowel and bladder dysfunction, and symptoms were strongly associated with the risk of children and adolescents with TCS (p<0.05). CONCLUSIONS: Early accurate diagnosis and adequate surgical release might lead to successful outcomes in children and adolescents with TCS. Surgical untethering is a safe and effective method for treatment of children with TCS.
Adolescent* ; Child* ; Cohort Studies ; Diagnosis ; Follow-Up Studies ; Humans ; Intermittent Urethral Catheterization ; Lipoma ; Male ; Methods ; Neural Tube Defects* ; Retrospective Studies ; Spinal Dysraphism ; Urinary Bladder

We report the case of a giant hypothalamic hamartoma with a large intracranial cyst in a neonate. On ultrasonography, the lesion presented as a lobulated, mass-like lesion with similar echogenicity to the adjacent brain parenchyma, located anterior to the underdeveloped and compressed left temporal lobe, and presenting as an intracranial cyst in the left cerebral convexity without definite internal echogenicity or septa. The presence of a hypothalamic hamartoma and intracranial neurenteric cyst were confirmed by surgical biopsy. The association of a giant hypothalamic hamartoma and a neurenteric cyst is rare. Due to the rarity of this association, the large size of the intracranial cyst, and the resulting distortion in the regional anatomy, the diagnosis of the solid mass was not made correctly on prenatal high-resolution ultrasonography.
Anatomy, Regional ; Biopsy ; Brain ; Central Nervous System Cysts ; Diagnosis ; Hamartoma* ; Humans ; Infant, Newborn* ; Magnetic Resonance Imaging ; Neural Tube Defects ; Temporal Lobe ; Ultrasonography

Spinal neurenteric cysts are uncommon congenital lesions, furthermore solitary neurenteric cysts of the upper cervical spine are very rare. A 15-year-old boy having an intraspinal neurenteric cyst located at cervical spine presented with symptoms of neck pain and both shoulders pain for 2 months. Cervical spine magnetic resonance (MR) imaging demonstrated an intradural extramedullary cystic mass at the C1-3 level without enhancement after gadolinium injection. There was no associated malformation on the MR imaging, computed tomography, and radiography. Hemilaminectomy at the C1-3 levels was performed and the lesion was completely removed through a posterior approach. Histological examination showed the cystic wall lined with ciliated pseudostratified columnar epithelium containing mucinous contents. Neurenteric cyst should be considered in the diagnosis of spinal solitary cystic mass.
Adolescent* ; Bone Cysts ; Diagnosis ; Epithelium ; Gadolinium ; Humans ; Magnetic Resonance Imaging ; Male ; Mucins ; Neck Pain ; Neural Tube Defects* ; Radiography ; Shoulder ; Spine

OBJECTIVETo explore the clinical value of screening the serum markers during the second trimester of pregnancy in preventing congenital birth defect and predicting the pregnancy outcome.

METHODSBetween November, 2011 and October, 2013, a total of 25 520 pregnant women (15-20+6 gestational weeks) underwent a screening test of triple serum markers including free beta-human chorionic gonadotrophin (free βhCG), alpha-fetoprotein (AFP), and unconjugated estriol (µE3) during the second semester of pregnancy. The women identified by the screening test as having high risks were referred to invasive prenatal diagnosis by amniocentesis, or to color Doppler ultrasound examination for suspected patent neural tube defect (NTD), and their pregnancy outcomes were followed up.

RESULTSHigh-risk pregnancies were identified by the screening test in 4.91% (1254/25520) of the total cohort. Of the 818 patients receiving invasive prenatal diagnosis, the abnormal rate was 5.75% (47/818). The high-risk pregnancies identified by the screening test was associated with a significantly higher rate of abnormal outcomes compared with the low-risk pregnancies (1.91% vs 0.1%, P<0.01). Of the 210 high-risk cases of NTD, a definite diagnosis was established in 34 cases. We also found that pregnancies at an advanced age (>35 years) was associated with increased risks for trisomy 21 compared with those at younger ages (15% vs 1.65%P<0.01). The detection rate of abnormal karyotypes in pregnancies with an abnormal MoM value of a single marker was 3.17% (6/189).

CONCLUSIONScreening tests of serum markers during the second trimester of pregnancy can be helpful to identify fetal chromosomal and anatomical anomalies, predict unfavorable pregnancy outcomes, and prevent birth defects in pregnancies at an advanced age. The MoM value of a single marker in the second trimester can be indicative of potential chromosomal abnormalities.

Biomarkers ; blood ; Chorionic Gonadotropin, beta Subunit, Human ; blood ; Chromosome Aberrations ; Down Syndrome ; diagnosis ; Estriol ; blood ; Female ; Humans ; Neural Tube Defects ; diagnosis ; Pregnancy ; Pregnancy Outcome ; Pregnancy Trimester, Second ; blood ; Prenatal Diagnosis ; alpha-Fetoproteins ; analysis

The routine prenatal maternal serum testing is widely used for screening of birth defects, including Down syndrome, trisomy 18 syndrome and neural tube defects. The testing results are also associated with other adverse pregnant outcomes such as fetal surface structural abnormalities, gestational hypertension disease, intrahepatic cholestasis of pregnancy, premature rupture of membranes, abortion, stillbirth, intrauterine growth restriction and macrosomia; therefore the abnormal levels of serum markers might be used for predicting these adverse pregnant outcomes.
Biomarkers ; blood ; Chromosomes, Human, Pair 18 ; Down Syndrome ; Female ; Humans ; Neural Tube Defects ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Trisomy

A 50-year-old male presented with acutely progressed paraplegia. His magnetic resonance imaging demonstrated two well-demarcated components with opposite signals in one cystic lesion between the T1- and T2-weighted images at the T1 spine level. The patient showed immediately improved neurological symptoms after surgical intervention and the histopathological exam was compatible with a neurenteric cyst. On operation, two different viscous drainages from the cyst were confirmed. A unique similarity of image findings was found from a review of the pertinent literature. The common findings of spinal neurenteric cyst include an isointense or mildly hyperintense signal relative to cerebrospinal fluid for both T1- and T2-weighted images. However, albeit rarer, the signals of some part of the cyst could change into brightly hyperintensity on T1-weighted images and hypointensity on T2-weighted images due to the differing sedimentation of the more viscous contents in the cyst.
Diagnosis, Differential ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; *Neural Tube Defects/diagnosis/physiopathology/surgery ; *Spinal Cord/pathology/surgery ; *Spinal Cord Diseases/diagnosis/physiopathology/surgery

STUDY DESIGN: A retrospective study. OBJECTIVES: Using ultrasound to evaluate association of minor cutaneous stigmas with occult spinal dysraphism (OSD) according to the presence of co-morbidities. SUMMARY OF LITERATURE REVIEW: OSD can be associated with various cutaneous markers. Ultrasound of the spine is an effective, non-invasive screening method. MATERIALS AND METHODS: Over a 5-year period (2009-2013), a total of 180 infants with various skin stigmas were evaluated. Ninety-seven patients were normal infants, eighty-three had other co-morbidities. The type of skin stigmata and/or co-morbidities as well as lumbar ultrasound results were reviewed for all patients. RESULTS: Three of the 97 normal infants had abnormalities. One of the three had OSD. Eighteen of the 83 infants with congenital anomalies had abnormalities, and eleven of the 18 had OSD. Infants with congenital anomalies were 6 times more likely to have OSD than normal infants (OR 5.98, 95% CI 1.927 to 18.612, p=0.001) and there was no significant correlation between the presence of minor skin lesions and the presence of dysraphism. CONCLUSIONS: So-called minor skin lesions were not markers of OSD in normal infants. However, because of the feasibility, simplicity, and low cost of spinal ultrasound, the examination is justified by the benefits of early diagnosis.
Christianity* ; Early Diagnosis ; Humans ; Infant* ; Mass Screening ; Neural Tube Defects ; Retrospective Studies ; Skin ; Spinal Dysraphism* ; Spine ; Ultrasonography*

Congenital dermal sinus (CDS) is a type of occult spinal dysraphism characterized by a midline skin dimple. A 12-month-old girl presented with fever and ascending quadriparesis. She had a midline skin dimple in the upper sacral area that had been discovered in her neonatal period. Imaging studies revealed a holocord intramedullary abscess and CDS. Overlooking CDS or misdiagnosing it as benign sacrococcygeal dimple may lead to catastrophic infection and cause serious neurological deficits. Therefore, further imaging work-up or consultation with a pediatric neurosurgeon is recommended following discovery of any atypical-looking dimples in the midline.
Abscess* ; Diagnosis ; Female ; Fever ; Humans ; Infant ; Neural Tube Defects ; Quadriplegia ; Skin ; Spina Bifida Occulta*