Prenatal diagnosis of tetrasomy 9p with Dandy-Walker malformation

OBJECTIVES: To add to the knowledge of chromosomal abnormalities associated with Dandy-Walker malformation. METHODS: Molecular cytogenetic analyses of a chorionic villus sampling and of an amniocentesis of a fetus with Dandy-Walker malformation and abnormal somatic development. RESULTS: All cells examined showed a 47, XY, +idic(9p)(pter-->q12::q12-->pter) de novo karyotype. This report describes the fourth case of a tetrasomy 9p associated with Dandy-Walker malformation. CONCLUSIONS: This case, together with the three previously reported cases of an association with a tetrasomy 9p, indicate that this chromosomal aberration should be looked for when Dandy-Walker malformation is detected via prenatal ultrasonography.     

Dandy-Walker malformation complex: correlation between ultrasonographic diagnosis and postmortem neuropathology

OBJECTIVE: This autopsy-based study was designed to evaluate sonographic and neuropathologic findings of fetuses diagnosed prenatally with Dandy-Walker malformation complex. METHODS: The retrospective study encompassed a series of 44 autopsy cases from 2 tertiary referral centers with a prenatal ultrasound diagnosis of Dandy-Walker malformation complex between 1995 and 2003. Ultrasound and pathology data from the cases and from age-matched controls were reviewed in a blinded manner. An unequivocal diagnosis of Dandy-Walker malformation complex from ultrasonography or pathology archival images required significant hypoplasia or aplasia of the cerebellar vermis. RESULTS: Neuropathologic examination failed to confirm the prenatal diagnosis of Dandy-Walker malformation complex in 59% (26/44, 95% confidence interval [CI] 44-72) of the cases. After standardized reevaluation of high quality archival sonograms and pathology images, concordance remained poor at 55% (6/11 cases, 95% CI 28-79). Sonographic features that favored concordance included marked enlargement of the cisterna magna (> or = 10 mm), complete aplasia of the vermis, and a trapezoid-shaped gap between the cerebellar hemispheres. This latter finding contrasted with a keyhole-shaped gap in fetuses with no cerebellar neuropathology. CONCLUSION: Correlation between a prenatal ultrasound diagnosis of Dandy-Walker malformation complex and autopsy neuropathology findings is poor. Unequivocal prenatal sonographic diagnosis of Dandy-Walker malformation complex should be reserved for cases with the classic findings of Dandy-Walker malformation, including enlargement of the cisterna magna, aplasia of the vermis, and a trapezoid-shaped, rather than keyhole-shaped, interhemispheric gap. LEVEL OF EVIDENCE: III.     

Fetal cystic malformations of the posterior fossa in the first trimester of pregnancy

Diagnosis of abnormalities of the posterior fossa, such as Dandy-Walker malformation, can be assessed during the first trimester of pregnancy by ultrasonography. We report on 5 cases of posterior fossa abnormalities, 4 Dandy-Walker malformations and 1 Dandy-Walker variant, diagnosed during the first trimester of pregnancy by ultrasound examination. All cases were confirmed later during the pregnancy by further ultrasound examinations or by postmortem examination when parents elected for termination of pregnancy. Two of our Dandy-Walker malformation cases were siblings from consanguineous parents and had a Meckel syndrome variant associated with the posterior fossa malformation, multicystic kidneys and hepatic fibrosis. We believe first trimester diagnosis of Dandy-Walker complex is possible, but needs to be confirmed later during the pregnancy and should prompt a detailed survey for other abnormalities.     

Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case report

OBJECTIVE: The presentation of sonographic and perinatal findings of tetrasomy 9p. METHODS AND RESULTS: Chorionic villus sampling and amniocentesis were performed at 19 weeks of gestation because of the sonographic findings of Dandy-Walker malformation with bilateral ventriculomegaly. Cytogenetic analysis showed 47,XX,+i psu dic(9)(pter->q12::q12>-pter). The pregnancy was terminated at 20 weeks of gestation at the request of the parents. At post-mortem examination, the presumed hypoplasia of the vermis could not be confirmed for technical reasons. No other pathological findings were seen. CONCLUSION: From our experience and from the literature, we conclude that Dandy-Walker malformation is an important finding in tetrasomy 9p. Chromosomal studies should be carried out in fetuses with sonographically detected Dandy-Walker malformation, even in the absence of other abnormalities.     

Vascular malformations in the uterus: ultrasonographic diagnosis and conservative management

OBJECTIVE: To investigate the presence and outcome of uterine vascular malformations in women with abnormal premenopausal bleeding. STUDY DESIGN: In this observational study 265 consecutive patients with abnormal premenopausal bleeding were examined by the same ultrasonographer with transvaginal gray-scale ultrasonography and color Doppler imaging. A final diagnosis of uterine vascular malformation was based on ultrasonographic findings, hysteroscopy or histological findings. Patients suspected of uterine vascular malformations at ultrasonography were closely monitored. RESULTS: In nine patients (3.4%) we found ultrasonographic features of uterine vascular malformations. Color Doppler imaging showed hypervascularity, marked turbulence, and low-impedance, high-velocity flow. In six patients the condition resolved spontaneously. Two patients with hydatiform mole needed chemotherapy and their condition normalized. One patient underwent a selective embolization of the uterine artery. Subsequently, five patients had uncomplicated pregnancies after resolution of the vascular malformation. CONCLUSION: Uterine vascular malformations are more common than previously thought. We conclude that conservative management is a valuable option in many of the acquired pregnancy-related cases that are diagnosed with color Doppler imaging.     

Recurrent Dandy-Walker malformation

This is a report of a 18 year-old woman with two consecutive fetuses suffering from a Dandy-Walker malformation (DWM). The first diagnosis of Dandy-Walker syndrome was at 24 weeks gestation. According to the parent’s request, this pregnancy was terminated. Seven months after that event a new case of Dandy-walker malformation was diagnosed in the same woman. She was at 21 weeks of gestation.     

Dandy-Walker malformation in Rubinstein-Taybi syndrome: a rare association

A female infant is described with the rare association of Dandy-Walker malformation in Rubinstein-Taybi syndrome.     

First trimester diagnosis of split hand/foot by transvaginal ultrasound

OBJECTIVE/METHOD: First trimester high-frequency transvaginal ultrasonographic examination was performed in a 26-year-old gravida 2, para 1, diagnosed with tetramelic split hands and feet. The couple was informed about the probable 50% recurrence risk of this anomaly. RESULTS: At 12 weeks' gestation, high-frequency transvaginal ultrasound examination revealed a fetus with biometry consistent with gestational age. Both hands appeared to have a single digit at the ulnar side. On the site of the metacarpal bones, only three bones could be visualized. Both feet showed two digits, with a typical 'split-foot' appearance. Nuchal translucency thickness measured 1.0 mm. No additional abnormalities could be found. The child was born in good condition with the described split hand/foot malformation (SHFM). CONCLUSION: This case report demonstrates prenatal sonographic diagnosis of SHFM in a first trimester fetus. In first trimester there can be several technical advantages and it shortens the period of uncertainty of the parents. Secondly it provides the option of early surgical termination of the pregnancy instead of induction of labour.     

Complejo Dandy-Walker asociado a síndrome polimalformativo

Dandy-Walker complex is a sporadic congenital malformation of the midbrain dysmorphogenesis that involves a variable degree of anatomical abnormalities mainly in the cerebellum and fourth ventricle. This syndrome can be associated with other malformations.     

X-linked inheritance of Dandy-Walker variant

We report a family in which two sisters had three male fetuses with isolated Dandy-Walker variant (DWV) diagnosed on antenatal ultrasound. DWV is one part of a spectrum of abnormalities related to Dandy-Walker malformation (DWM) which commonly occur in association with other anomalies with or without chromosome abnormalities. The majority of cases are sporadic but rare reports of recurrence in siblings exist. This is the second report suggesting that isolated DWM/DWV can be inherited as an X-linked recessive trait.     

Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletion

OBJECTIVES: To present the prenatal diagnosis and perinatal findings of partial trisomy 9p and distal 12p deletion. METHODS AND RESULTS: Amniocentesis was performed at 17 gestational weeks due to a balanced reciprocal translocation t(9;12)(p11.2;p13.3) in the mother. The father's karyotype was normal. The family had a 5-year-old daughter with a Dandy-Walker malformation and a trisomy 9p syndrome. Cytogenetic analysis of the cultured amniotic fluid cells revealed a 46,XY,der(12)t(9;12)(p11.2;p13.3)mat karyotype with partial monosomy 12p(12pter-->p13.3) and partial trisomy 9p(9pter-->p11.2). Sonographic examination of the fetal brain and skull showed bilateral ventriculomegaly, brachycephaly and a Dandy-Walker malformation with an enlarged cisterna magna and absence of the cerebellar vermis. The pregnancy was terminated subsequently. At autopsy, the proband manifested agenesis of the cerebellar vermis and a typical trisomy 9p phenotype. CONCLUSION: Fetuses with partial trisomy 9p(9pter-->p11.2) may present a Dandy-Walker malformation and ventriculomegaly on prenatal ultrasound in the second trimester. A dosage effect of genes located on 9pter-->p11.2 may be associated with the abnormal development of the central nervous system in patients with partial or complete trisomy 9.     

Dandy-Walker anomaly in Meckel-Gruber syndrome

We report a fetus affected by Meckel-Gruber syndrome whose phenotype was characterized by macrocephaly, frontal bossing, a saddle nose, marked micrognathia, a distended abdomen, omphalocele, post-axial polydactyly and talipes equinovarus. The main neuropathological finding at autopsy was in a very large cyst located in an abnormally wide posterior cranial fossa consistent with a Dandy-Walker anomaly. Intestinal malrotation, enlarged cystic dysplastic kidneys and hepatic portal fibrosis coexisted. The occurrence of a Dandy-Walker malformation in Meckel-Gruber syndrome confirms a disturbance in rhombencephalon development. Although uncommon, it should be included among the central nervous anomalies representative of the syndrome.     

Transperineal versus transvaginal ultrasonographic evaluation of the cervix at each trimester in normal pregnant women

AIMS: To compare transvaginal and transperineal ultrasonography in the assessment of cervical length and cervical changes in normal gravid patients at each trimester. METHODS: Transperineal and transvaginal ultrasonographic cervical length was measured on 104 asymptomatic pregnant women between 10 and 14, 20-24, and 30-34 weeks' gestation and the presence of a funnel was also noted. The study used the McNemar chi2 test to assess the difference between two methods in their ability to obtain a measurement, and the Pearson correlation coefficient to determine the relationship between the paired transperineal and transvaginal cervical lengths. RESULTS: Cervical length measurements were obtained by transvaginal ultrasonography in all 104 patients and by transperineal ultrasonography in 101 patients (97.1%) (P = 0.1). By gestational age, the greatest length discrepancy (2.8 mm) between the two ultrasonographic methods was found at 10-14 weeks (P < 0.001). At 20-24 and 30-34 weeks' gestation, the mean length differences were less than 1 mm (P < 0.01 and P = 0.337, respectively). Cervical funnelling was observed in 16 patients by both methods, whereas in two patients from the 20-24 week gestational age group, funelling was observed by transvaginal ultrasonography and not by transperineal ultrasonography. CONCLUSIONS: Cervical length measurements by transperineal ultrasonography show good correlation with transvaginal ultrasonographic measurements and it is a satisfactory alternative to a transvaginal evaluation of the cervix throughout pregnancy.     

Fetal MRI of a severe Dandy-Walker malformation with an enlarged posterior fossa cyst causing severe hydrocephalus

We present a case of severe Dandy-Walker malformation with enlarged posterior fossa cyst extruding through the incisura of the tentorium and causing severe hydrocephalus. A posterior fossa malformation was suspected by ultrasonography and was further evaluated by fetal magnetic resonance imaging (MRI). Fetal MRI demonstrated that there were no associated anomalies and the decision was made to continue with labor instead of terminating the pregnancy. The precise diagnosis and absence of associated anomalies revealed by MRI aided in parent counseling and obstetrical management.     

Long-term transvaginal ultrasonographic endometrial follow-up in postmenopausal breast cancer patients with tamoxifen treatment.

OBJECTIVE: The aim of this study was to evaluate changes in transvaginal ultrasonographic endometrial thickness with increased duration of tamoxifen treatment in postmenopausal breast cancer patients. MATERIAL AND METHODS: In this prospective study we evaluated the changes (mean +/- SD) of endometrial thickness measured by transvaginal ultrasonography in 181 postmenopausal breast cancer patients, according to the duration of tamoxifen treatment. According to our protocol, the ultrasonographic evaluations were performed every 6 months for the first 2 years of the follow-up and every 12 months thereafter. Two such subsequent ultrasonographic evaluations were performed in 181 patients following 35.1 +/- 41.7 months of tamoxifen treatment, three studies in 127 patients following 44.7 +/- 47.98 months of treatment, four studies in 75 following 54.2 +/- 61.7 months of treatment, five studies in 51 patients following 65.3 +/- 74.4 months of treatment, and six studies in 27 patients following 79.5 +/- 98.8 months of treatment. RESULTS: The measured endometrial thickness detected varied from 8.84 +/- 4.66 to 10.61 +/- 12.35 mm. There were no significant changes in mean +/- SD of endometrial thickness following various durations of tamoxifen treatment. CONCLUSIONS: Extension of duration of tamoxifen treatment in postmenopausal breast cancer patients up to 79.48 +/- 98.79 consecutive months does not cause a significant increase in transvaginal ultrasonographic endometrial thickness.     

Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20-21-week fetuses.

Fetal akinesia deformation sequence (FADS) is a rare condition characterized by intrauterine growth retardation (IUGR), congenital limb contractures, pulmonary hypoplasia, hydramnios and craniofacial abnormalities. The present report comprises an autopsy study of three fetuses to illustrate the variable clinical manifestations and neuropathological findings. Fetus 1 had arthrogryposis and no movement on fetal ultrasound examination. Aborted at 21 weeks, the fetus showed micrognathia, bilateral joint contracture with pterygia at the elbow and axilla. Growth retardation and pulmonary hypoplasia were not major features. Neuropathologic examination revealed anterior horn cell loss and lateral corticospinal tract degeneration in spinal cord, with marked muscular atrophy. Fetus 2, 20 weeks' gestation, had fetal akinesia, nuchal thickening, left pleural effusion, and Dandy-Walker malformation on ultrasound examination. Autopsy showed low-set ears, ocular hypertelorism, cleft palate, flexion contractures with pterygia over axilla, elbow and groin, pulmonary hypoplasia, Dandy-Walker malformation, unremarkable spinal cord and skeletal muscle. Fetus 3, 21 weeks' gestation, was aborted for fetal akinesia, neck and limb webbing and severe arthrogryposis. At autopsy, similar facial abnormalities, contracture and pterygia in neck and multiple major joints were found. Borderline pulmonary hypoplasia and severe lumbar scoliosis were also present. The brain, spinal cord and muscle were unremarkable. In these three fetuses, the prenatal ultrasound and autopsy findings were characteristic of FADS. Neurogenic spinal muscular atrophy was the basis of fetal akinesia in Case 1. Dandy-Walker malformation was present in Case 2, but the pathogenetic mechanism of fetal akinesia was not clear as spinal cord and muscle histology appeared normal. The etiology of akinesia was undetermined in Case 3; no extrinsic or intrinsic cause was identified.     

A new report of mesomelic camptomelia,polydactyly and Dandy-Walker complex in siblings

Two male siblings with several malformations are reported. The anomalies detected in both fetuses were mesomelic camptomelia, postaxial hexadactyly and Dandy-Walker complex. There was only one similar previous report in the literature. This combination could represent a specific pattern of malformation or a new syndrome, with different variants. The parents' consanguinity and the recurrence in a subsequent pregnancy suggest an autosomal recessive inheritance pattern.     

The value of transvaginal ultrasonography in diagnosis and management of cervical incompetence

To determine the value of transvaginal sonography in women with a previous history of second trimester miscarriage due to cervical incompetence, 55 patients were subjected to either elective cervical cerclage or follow-up (every second patient) with weekly evaluations of the cervix by transvaginal ultrasonography. Emergency cerclage was applied when significant cervical changes were noted. All patients were evaluated with cervical cultures and ultrasound. Women with infection, fibroids, uterine malformations and multiple pregnancies were excluded from the study. The study population was divided in two groups. In group I (n=27) elective cerclage was applied during the 14th week. Women in group II (n=28) were subjected to serial weekly evaluations of the cervix by transvaginal ultrasonograms. In 18 cases emergency cerclage was applied due to significant cervical changes. In group I, labor started before the 33rd week in two cases (7.4%), between 33 and 37 weeks in nine (33.3%) and after the 37th week in 16 cases (59.2%). Out of the 18 patients in group II who had cervical cerclage after ultrasonographic evaluation, four (22.2%) delivered before the 33rd week, three (16.6%) between 33 and 37 weeks and 11 (61.1%) after the 37th week. No statistical difference was noted between the two groups referring to pregnancy outcome (p<0.1). We concluded that ultrasound-guided management despite cervical shortening, does not result in unfavorable pregnancy outcome. A significant number of patients can avoid the operation.     

绝经后乳腺癌患者服用他莫昔芬发生子宫内膜息肉危险因素的探讨

目的:探讨绝经后因乳腺癌服用他莫昔芬(TAM)与子宫内膜息肉发生的相关性。方法:随诊了46例绝经后服用TAM超过6个月的妇女,其中22例经宫腔镜手术及内膜病理证实为内膜息肉(A组),24例宫腔镜检查未发现息肉(B组)。比较2组服用TAM的时间、剂量,经阴道超声波(TVS)检查的结果,并分析与子宫内膜癌相关的危险因素。结果:息肉组妇女的体重明显重于非息肉组(P=0.013),且比非息肉组服用TAM的时间长,TAM的累计剂量增加(P值均为0.002)。经阴道超声波检查示息肉组子宫内膜增厚或者宫内异常回声的发生率明显高于非息肉组(P=0.019)。结论:肥胖,长期服用TAM超过2年或累计剂量超过15g是绝经后妇女服用TAM发生子宫内膜息肉的高危因素。TVS提示内膜增厚或者宫内异常回声有诊断价值,可作为预测内膜息肉发生的指标。     

Transabdominal and transvaginal ultrasonographic diagnosis of ectopic pregnancy: clinical implications

Thirty-five patients attending an emergency room with a positive pregnancy test and suspected ectopic pregnancy underwent an ultrasonographic examination with both the transabdominal and the transvaginal techniques. Twenty-four out of 26 ectopic pregnancies were correctly diagnosed on admission, combining results of the two techniques, the sensitivity of the two techniques used separately being 88.4% (transvaginal) and 76.9% (transabdominal). In our unselected symptomatic patients, the transvaginal technique showed to be advantageous but not essential in the management of ectopic pregnancy. The surgical outcome of these patients suggested that a prompt diagnosis of ectopic pregnancy did not warrant a conservative treatment.