OBJECTIVE: The goal of this presentation is to review some of the common and rare fetal heart abnormalities and to provide an easy approach to these findings with schematic drawings. In this presentation, we limit the scope to the sagittal and parasagittal sections. METHODS: Over the past 10 years, we ...

The 22q11.2 deletion syndrome (22qDS) is the most common microdeletion syndrome in humans. Its multisystem manifestations include congenital anomalies and neuropsychiatric disorders such as schizophrenia. Structural neuroimaging shows various abnormalities, but no postmortem brain studies exist. We report neuropathologic findings in 3 individuals from a cohort of 100 adults with ...

OBJECTIVE: To report a pregnancy in a hermaphrodite and review of the literature. DESIGN: Case report and literature review. SETTING: Clinical. PATIENT(S): A patient with male-predominant mosaic karyotype 96% 46XY. INTERVENTION(S): Removal of left ovotestis in combination with a supracervical hysterectomy and bilateral salpingo-oophorectomy. MAIN OUTCOME MEASURE(S): Identification of published ...

We report a well-documented case of a 28-year-old woman, gravida 3, para 1, undergoing termination at 22 weeks for fetal congenital malformations with concurrent partial hydatidiform mole and choriocarcinoma. A fetal ultrasound showed spina bifida, and an elective termination was performed. One month later, the patient presented with vaginal bleeding, ...

Aneurysms of the vein of Galen (AVG) represent less than 1% of all intracranial arteriovenous malformations. Two cases of prenatal diagnosis made by color Doppler ultrasonography at 32 weeks of gestation are reported. Both cases presented with antenatal mild cardiomegaly and both developed severe cardiac failure in the neonatal period. ...

OBJECTIVES: To review the indications, applications and technique of fetal cardiocentesis. METHODS: Review of published case reports and case series of fetal cardiocentesis utilizing the PubMed search engine of the National Library of Medicine. RESULTS: Case reports and case series demonstrate that fetal cardiocentesis may be an alternative method by ...

Single umbilical artery (SUA) is a relatively common malformation that may call attention to the possibility of associated malformations (often chromosome aberrations). The current study aimed at surveying malformations associated with SUA on the basis of fetopathological investigations, analyzing the role of history, summarizing the clinically important factors emerging together ...

We report on 3 kindred patients with terminal 11q monosomy and distal 22q trisomy involving the SHANK3 gene, resulting from a subtle familial translocation t(11;22)(q24.2;q13.33). The patients presented with the characteristic symptoms of Jacobsen syndrome (JBS), including: mental retardation, short stature, and craniofacial dysmorphism in all 3 cases; cardiac defects ...

We report a case of trisomy 21 mosaicism detected upon amniocentesis in a 36-year-old woman. Ultrasound examination at 23 weeks' gestation showed a fetus with hydrops, pulmonary hypoplasia, oligohydramnios, thickened placenta, and intrauterine growth retardation. Cytogenetic analysis revealed low-percentage (6%) mosaicism for trisomy 21. Hydrops fetalis and thickened placenta are ...

We report an 18-year-old Turkish girl with an 18q- deletion and abnormalities of face, mental and growth retardation, mitral deficiency and hypothyroidism. Mitral deficiency has not been reported in 18q deletion syndrome cases previously. We performed cytogenetic and molecular cytogenetic analysis, and brain MRI. Her karyotype was 46,XX,del(18)(q21.2-->qter). This report ...

Blondeliine tachinids from the Oriental region are reviewed. The following new species are described and new synonymies and new combinations are proposed: Degeeriopsis apocola sp. n., Prodegeeria thomasi sp. n., Prodegeeria malayana sp. n., Blondelia breviceps Shima syn. n. of B. siamensis (Baranov) (comb. nov.), Compsilura sumatrensis Townsend syn. novo ...

OBJECTIVE: The goal of this presentation is to review some of the common and rare fetal heart abnormalities and to provide an easy approach to these findings with schematic drawings. METHODS: Over the past 10 years, we collected cases in which the common views of the heart were abnormal and ...

OBJECTIVES: The goal of this presentation is to review some of the common and rare fetal heart abnormalities and to provide an easy approach to these findings with schematic drawings. METHODS: Over the past 10 years, we collected cases in which the common views of the heart were abnormal and ...

BACKGROUND: The Texas Birth Defects Registry (TBDR) does not access prenatal diagnostic facilities to ascertain cases. Objectives of the study were to determine how many cases may be missing from the registry as a result, and to assess the feasibility and utility of prenatal surveillance for birth defects, through a ...

OBJECTIVES: Diastematomyelia is a rare form of spinal dysraphism. We present eight cases of diastematomyelia diagnosed prenatally in our institution as well as a review of the literature in order to determine the prognosis of isolated cases of this very unusual condition. METHODS: Records of fetuses with diastematomyelia diagnosed in ...

Harlequin ichthyosis (HI) is the most devastating form of skin disorder, which is inherited as autosomal recessive trait related to consanguineous marriage. Although prenatal examination has become scheduled and convenient throughout Taiwan, an unexpected case of HI in a male premature infant born at 32 weeks of gestation was presented. ...

Herein we describe a unique case of partial proximal 10q trisomy presenting biliary atresia, anal anteposition and cardiac malformation. The 10q duplication was confirmed by G banding on prophase chromosomes. A review of the literature confirmed that the patient displayed characteristic dysmorphic features of the recently defined partial proximal trisomy ...

5p-(cri-du-chat syndrome) is a well-defined clinical entity presenting with phenotypic and cytogenetic variability. Despite recognition that abnormalities in audition are common, limited reports on auditory functioning in affected individuals are available. The current study presents a case illustrating the auditory functioning in a 22-month-old patient diagnosed with 5p- syndrome, karyotype ...

We report on an Italian boy, born to normal and nonconsanguineous parents with a prenatal diagnosis of ventriculomegaly and subependymal glial heterotopias. At birth bilateral macrostomia was diagnosed without other evident facial anomalies. Magnetic resonance imaging (MRI) showed triventricular hydrocephalus and aqueductal stenosis and confirmed the nodules of glial heterotopia. ...

OBJECTIVES: To get information about embryologic mechanisms of neural tube defects (NTD), by studying the associated malformations. METHODS: Eighty three cases of NTD, seen at the prenatal diagnosis unit of Rennes University Hospital (France) between May 1999 and December 2002, were retrospectively studied. Cases with chromosomal anomalies (5/83), cases without ...

Iniencephaly is a rare but almost always lethal neural tube defect with the following cardinal features: occipital bone defect, partial or total absence of cervicothoracal vertebrae and fetal retroflexion. Iniencephaly is associated with malformations of the central nervous system, gastrointestinal and cardiovascular system. Prenatally diagnosed cases of iniencephaly are rare ...

OBJECTIVE: Isolated nonvisualized fetal gallbladder (INVFGB) is relatively rare. In most cases, the gallbladder will eventually be detected. In some cases however, INVFGB may be associated with serious abnormalities, cystic fibrosis (CF), aneuploidy, and agenesis of the gall bladder. We describe a clinical evaluation of prenatally diagnosed INVFGB. METHODS: Cases ...

OBJECTIVES: To assess the accuracy of the prenatal ultrasound finding of subjectively small/absent stomach bubble in the prenatal diagnosis of tracheo-oesophageal fistula and oesophageal atresia (TOF/OA). METHODS: A retrospective study of prenatal ultrasound scans showing small/absent stomach bubble was carried out between 1st January 1994 and 31st December 2003. RESULTS: ...

OBJECTIVE: This manuscript discusses the clinical presentation, diagnosis, pathophysiology and possible etiologies of prenatal thrombosis of the inferior vena cava and renal veins. METHODS: Eleven cases were identified through a Medline search of the English literature. These cases were reviewed, together with a recent case that was treated in our ...

Congenital obstruction of the upper airway (CHAOS) is a rare, usually lethal abnormality. A literature review of 36 prenatally diagnosed cases of CHAOS and the analysis of our own case suggest the existence of a distinct subtype of CHAOS, raising important implications for diagnosis and management. Serial fetal ultrasound examinations ...

OBJECTIVE: Our objective was to determine the clinical significance of fetal hypoechoic hepatomegaly and serial change of liver sizes. METHODS: The liver sizes of four fetuses with hypoechoic hepatomegaly were serially estimated by liver length, as measured from the dome of the right hemidiaphragm to the tip of the right ...

Truncus arteriosus (TA) is a rare cardiac anomaly constituting less than 1% of all congenital heart defects. Its association with complete atrioventricular septal defect (AVSD) is extremely unusual and only 12 cases diagnosed postnatally or postmortem have been reported so far. We describe the first case of truncus arteriosus with ...

Polymalformative syndromes are always a clinical challenge for their complexity and sometimes for their rarity. Authors present the case of a girl with peculiar facies, macrocephaly, axial hypotonia, and severe development delay. Cerebral magnetic resonance showed polymicrogyria. Cytogenetics revealed a 46,XX,der(1)(qter-->p36.13::q42.3-->qter) karyotype. This is the third case described to date. ...

OBJECTIVES: To determine relevant prenatal findings of transient abnormal myelopoiesis (TAM) that have important prognostic implications. METHODS: The prenatal and postnatal medical records of all cases with confirmed TAM associated with Down syndrome were reviewed retrospectively, with emphasis on prenatal sonographic findings, fetal blood analysis, neonatal outcomes, and causes of ...

The mtDNA mutation 8993T > G is associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) and Leigh syndrome. There are few reported cases of prenatal testing for mtDNA disorders. Specifically for 8993T > G, there are six cases in which prenatal diagnosis has been reported. We describe prenatal ...

In this study the substantial and in part contradictory data available in the literature was collected concerning the frequency of small supernumerary marker chromosomes (sSMC) in the human population in general, and in special subpopulations. One hundred and thirty-two studies on sSMC were reviewed. In summary 1,288,693 cytogenetically studied cases ...

Patients with isochromosome 18q, a rare cytogenetic abnormality, also reported as Edwards syndrome, is the second most common autosomal trisomy. However, the phenotypic features and survival of these patients are not uniform and depend upon the portion of chromosomes getting duplicated or deleted. The survival of these children may be ...

BACKGROUND: Adequate contemporary information to counsel patients with a prenatal diagnosis of holoprosencephaly is lacking. We addressed this using data from the West Midlands Congenital Anomaly Register (WMCAR), a population-based malformation register, during a time where technological improvements have been stable and anomaly screening is well established. METHODS: Cases were ...

Mantle cell lymphoma (MCL), characterised by t(11;14)(q13;q32), has a poor prognosis. Many cases have additional cytogenetic abnormalities, and often have a complex karyotype. Fluorescence in situ hybridisation (FISH) was used to study 60 cases with leukaemic presentation of MCL, to determine the frequency, clinical correlations and prognostic impact of a ...

Nonimmune hydrops fetalis may occur as a result of different etiological conditions and in about one-third of cases no cause could be identified. Here, we report two cases of nonimmune hydrops fetalis associated with hereditary spherocytosis and hemophagocytic hystiocytosis. We think that babies with hydrops fetalis born of consanguineous parents ...

Congenital high airway obstruction syndrome (CHAOS) has been reported to be fatal. Ten cases of CHAOS that underwent ex utero intrapartum treatment (EXIT) procedure to secure the fetal airway have been reported. A 36-year-old woman (gravida 3, para 2) was referred to our hospital at 22 weeks of gestation. Sonography ...

OBJECTIVE: Isolated levocardia is a rare type of situs inversus in which the heart is in the normal levo position, but the abdominal viscera are in the dextro position. We aim to describe our experience with prenatal diagnosis and management in fetuses with isolated levocardia. METHODS: Of all the cases ...

The unbalanced translocation, der(1;7)(q10;p10), is one of the characteristic cytogenetic abnormalities found in myelodysplastic syndromes (MDS) and other myeloid neoplasms. Although described frequently with very poor clinical outcome and possible relationship with monosomy 7 or 7q- (-7/7q-), this recurrent cytogenetic abnormality has not been explored fully. Here we analyzed retrospectively ...

OBJECTIVE: To analyze the etiologies of nonimmune hydrops fetalis (NIHF) for a southern section of China. METHODS: 138 cases of NIHF presenting after 20 weeks' gestation over a 10-year period were reviewed. RESULTS: The causes of fetal hydrops were identified in 92.0%. Homozygous alpha-thalassemia dominated as the cause of NIHF ...

Cantrell's pentalogy is a very rare congenital anomaly. The hallmark of this condition is the presence of ectopia cordis and an abdominal wall defect. Its association with craniorachischisis is even more infrequent with just a few cases reported in the literature. The authors describe a case of a prenatal ultrasound ...

We report on a novel case of pure partial tandem duplication 1q42q43 confirmed by fluorescence in situ hybridization (FISH). We compare the manifestations of our patient with similar cases previously reported. We conclude that the most common clinical manifestations of trisomy 1q42qter are prenatal and postnatal growth retardation, relative macrocephaly, ...

BACKGROUND: Congenital mid-ureteral stricture is a rare malformation of the ureter leading to prenatal and neonatal hydronephrosis. Site characterization of the narrowing is important to optimize the surgical approach to the newborn affected by hydronephrosis. CASE PRESENTATION: We report a female EM with a rare form of hydronephrosis, (i.e. mid-ureteral ...

Dilatation of the fetal umbilical vein is a rare, most commonly isolated finding. Approximately 100 cases have been reported in the literature that describe different management approaches, especially regarding the time of delivery. We present a new case of umbilical vein dilatation diagnosed at 23 weeks' gestation as an isolated ...

Extra-adrenal pheochromocytomas (paragangliomas) are rare. We report the case of a 20-year-old female at 15 weeks gestation, who was detected to have a large paraganglioma (6.5 x 5 cm) in the organ of Zuckerkandl during an antenatal visit. After medical termination of the pregnancy, successful laparoscopic excision of the paraganglioma ...

OBJECTIVE: Despite the relatively common occurrence of imperforate anus, prenatal diagnosis is rarely reported. In this study, we investigated the presence and diagnosis of imperforate anus along with strategies for improving prenatal diagnosis of the condition. PATIENTS AND METHODS: Fetuses and infants with imperforate anus who had been examined prenatally ...

BACKGROUND: Skin tags, or acrochordons, are benign, soft, fleshy tumors that are composed of hyperplastic epidermis covering a dermal connective tissue stalk. METHODS: Case report of a congenital perineal skin tag that presented as a perineal tumor during second-trimester sonographic scan at 23 weeks' gestation. Literature review of the medical ...

OBJECTIVE: To evaluate the functional prognosis of kidneys affected prenatally by urinomas. METHODS: This was a retrospective review of cases of fetal urinoma reported in the literature, as well as two of our own cases. RESULTS: Twenty-three patients with a prenatal diagnosis of urinoma (five bilateral) were included in the ...

This is a review of cases of perinatally diagnosed congenital diaphragmatic hernia (CDH) with associated malformations with regard to time of diagnosis, side of hernia, associated malformations, and outcome. The authors analyzed the data of CDH cases with associated malformations from records of the I. Department of Obstetrics and Gynecology, ...

OBJECT: The prognosis of fetal ventriculomegaly (FVM) varies because of the disease's heterogeneity and the diversity of accompanying anomalies. Moreover, the cases that are referred to neurosurgeons may have different clinical features from those typically encountered by obstetricians. The object of this study was to delineate the prognosis of FVM ...

OBJECTIVES: To present a series of prenatally detected cases of recurrent pericentric inversions with euchromatic breakpoints and to review the literature to determine whether parental karyotyping is required for genetic counselling. METHODS: Cases of recurrent pericentric inversions with euchromatic breakpoints were collected from Canadian Cytogenetic Laboratories. Cases included inversions for ...