We report five cases of first-trimester reversed end-diastolic flow in the umbilical artery. Diagnoses were performed between 8 and 12 gestational weeks. All but one case appeared as a transient early finding. Second-trimester fetal demise occurred in two cases. One case delivered at 32 weeks with severe growth restriction but ...

OBJECTIVE: To report on the prenatal ultrasound findings associated with complete trisomy 9. METHODS: Cases of complete trisomy 9 diagnosed prenatally were identified by reviewing the reports from two large cytogenetics laboratories serving tertiary referral centers for prenatal diagnosis. Information on prenatal ultrasound findings and outcome was obtained in all ...

OBJECTIVE: The aim of this study is to compare two-dimensional and three-dimensional ultrasound for the visualization and diagnosis of craniofacial dysmorphism. METHODS: In this prospective study, we performed three-dimensional (3D) ultrasound following good-quality two-dimensional (2D) ultrasound in an at-risk population. Findings from 2D and 3D examination were noted. RESULTS: Our ...

We report a boy with partial distal 5p15.1-->pter trisomy and normal development. We compared the clinical findings in our patient with those previously reported of the same 5p duplicated region. Several cases of autosomal duplications and normal development have been described. The present case is another example of a chromosomal ...

Neonatal portal vein thrombosis (PVT) is a rare condition seen in the setting of thrombophilia or after umbilical vein catheterization. We report a case of fetal PVT with abnormal antenatal ultrasound findings at 27 weeks of gestation. This presented initially as dilation of the intrahepatic umbilical vein. To our knowledge, ...

A congenital cystic adenomatoid malformation (CCAM) is a congenital lung lesion that, when associated with hydrops, is thought to have a dismal prognosis without fetal intervention. The authors report a case of a fetus with a CCAM associated with ascites as the only manifestation of hydrops, which was diagnosed at ...

We present a short report here of two more patients with trisomy 2 as the sole chromosomal abnormality in a hematologic malignancy. Although trisomy 2 is a recognized abnormality in neoplasms, particularly hepatoblastomas, to the best of our knowledge only three other cases have been reported with trisomy 2, in ...

11q trisomy is associated with a recognizable pattern of multiple malformations. Review of the literature reveals the following recurrent themes common to complex and isolated 11q trisomy: mental retardation, pre- and postnatal growth retardation, hypotonia, a distinct pattern of facial features, congenital heart defects, and limb malformations. We report four ...

Necropsies were performed on 354 fetuses from dairy and beef herds submitted from 1994 to 2000 to the diagnostic laboratories at Instituto Nacional de Tecnología Agropecuaria, Balcarce, Argentina. Samples from the fetuses were examined for pathogenic organisms and processed for microscopic examination. An aetiological diagnosis was made for 161 (45.5%) ...

Four apparent triploid/diploid mosaic cases were studied. Three of the cases were detected at prenatal diagnosis and the other was of an intellectually handicapped, dysmorphic boy. Karyotypes were performed in multiple tissues if possible, and the inheritance of microsatellites was studied with DNA from fetal tissues and parental blood. Non-mosaic ...

The objective of this study was to examine the accuracy of fetal gender prediction at a routine first trimester scan using three-dimensional (3D) ultrasound. 200 women were recruited for this study and they agreed to have a transvaginal scan for their routine first trimester scan for fetal anatomy and nuchal ...

This paper presents a fetus with mosaic trisomy 9 diagnosed by chorionic villus sampling and confirmed by cordocentesis, and compares this case with published cases in order better to define the ultrasound markers confined to trisomy 9 syndrome. Detailed fetal ultrasound examination was carried out, revealing shortened femur, placental cysts ...

OBJECTIVES: To determine the incidence of cardiac disease associated with abdominal wall defects of fetuses and associated parameters including maternal age, sex, gestational age at delivery, outcome, karyotypes, Apgar scores and associated congenital anomalies. METHODS: This was a retrospective study of fetuses with a prenatal diagnosis of gastroschisis or omphalocele. ...

We report a case of pleuropulmonary blastoma with complex cytogenetic abnormalities, including trisomy 2, trisomy 8, dup(7), der(10) t(8; 10)(q13; q22), add(17), and double minutes (dmin). Fluorescence in situ hybridization FISH analysis demonstrated TP53 deletion and amplification of MYCN; the latter has not been reported in PPB.

Prenatal diagnosis of congenital atresia of the larynx is difficult but is possible by the findings of increased lung echogenicity and size coexisting with fetal ascites in ultrasonography. Sonographic findings may not always be typical. We report on a case of congenital laryngeal atresia diagnosed prenatally by the findings of ...

Prader Willi syndrome (PWS) most commonly is due to paternal micro-deletion of 15q11-q13. Although PWS is not a rare condition, mosaic micro-deletion cases are reported rarely. FISH using PWS micro-deletion probe is the most useful method to detect deletion including mosaicism. In this report we describe a female child with ...

Isolated non-compaction of the ventricular myocardium (NCVM) is a rare cardiomyopathy characterized by the persistence of numerous marked ventricular trabeculations and deep intertrabecular recesses with direct vascular supply by the ventricular cavities. We report two cases diagnosed by fetal echocardiography at 27 and 30 weeks' gestation, respectively. Postnatal echocardiography verified ...

In few cases of Turner syndrome the karyotype reveals the presence of an additional Y-bearing cell line, which is referred to as a borderline case of mixed gonadal dysgenesis. We report a 20-year-old woman with primary amenorrhea, virilization and a few Turner stigmata, who revealed rare mosaicism of 45,X/46,X dic ...

We report developmental data on a patient prenatally diagnosed with mosaic trisomy 16. At age six years her intellectual functioning, academic achievement, and adaptive behavior are normal. The myriad of findings among cases prenatally diagnosed with mosaic trisomy 16 are discussed. The diagnosis presents a dilemma for genetic counselors and ...

We report three cases with a typical diploid/triploid mixoploidy. Cytogenetic analysis showed a normal diploid karyotype in peripheral blood lymphocytes and a mixture of diploid and triploid cells in skin fibroblasts. We analysed microsatellite markers in patients blood lymphocytes and skin fibroblasts and compared the results with the microsatellite markers ...

This is the first report of a prenatally diagnosed case of Neu Laxova syndrome (NLS) from India. This also includes a case of NLS in monochorionic diamniotic twins and two more cases in which we were able to detect most of the features of NLS as early as 19 to ...

Nonne-Milroy lymphedema is a relatively rare disorder characterized by firm edema of the lower extremities either on the whole leg or limited to the feet or toes. We report a case of atypical Nonne-Milroy syndrome that presented prenatally with bilateral leg edema, bilateral hydrothorax and lung hypoplasia at 22 weeks' ...

The EXIT (Ex-Utero Intrapartum Treatment) procedure is an extremely valuable tool in providing time to secure the airway in infants with large fetal neck masses and abnormalities of the upper airway which impede resuscitation. The fetus is partially delivered while maintaining utero-placental-fetal circulation. We report the use of this technique ...

A case of a 24-week-old fetus of non consanguineous parents with an ultrasonographic diagnosis of a short right femur, ipsilateral agenesia of the fibula and a twisted right foot is described. Cordocentesis revealed a normal 46XY karyotype. The parents were informed on treatment options and after psychological counselling they decided ...

This article describes a case of nodular fasciitis with the karyotype 47,XY,+4/46,XY,add(15)(p11.2), t(16;16)(p13.3;p11.2). The presence of clonal chromosomal abnormalities in this case, as well as in three previously reported cases, indicates that nodular fasciitis is a benign neoplasm and not a reactive lesion.

Fetal SBA (spina bifida aperta) has been operated upon in more than 213 cases in the USA in the last 8 years. Indications and results still remain controversial. Our group reproduced successfully Meuli's model in sheep and reviewed the literature on SBA and the Internet updated sites on the theme. ...

Subependymal pseudocysts are cerebral cysts found in 5% of all neonates. When they are isolated and typical, they result from persistence of the germinal matrix, have a good prognosis and regress spontaneously within a few months. However, associated anomalies are frequent and in such cases the prognosis is poor. They ...

A case of double aneuploidy involving chromosome 21 and Y is reported in an eight-month-old infant with developmental delay and failure to thrive. Patient had all classical phenotypical features of trisomy 21 except, absence of epicanthal folds. The diagnosis was confirmed by cytogenetic study performed on peripheral blood leucocyte culture ...

This study reports on a pediatric case of hemangiopericytoma (HPC) showing trisomy 15 as a sole anomaly. Trisomy 15 was observed in a total of 11 cells harvested at a very early passage from two different in-situ cultures. Trisomy 15, as a sole anomaly, has been described in hematologic disorders ...

We report a fetus with atelencephaly, bilateral radial aplasia/hypoplasia, ventriculoseptal defect and megacolon, this combination of anomalies being consistent with the diagnosis of XK-aprosencephaly syndrome. The facial dysmorphology of this fetus differs from that previously reported and together with reports on overlapping phenotypes suggests an extension of the XK-aprosencephaly spectrum.

The dilated coronary sinus (DCS) has only recently been clearly visualised in the fetus due to progress in prenatal echography. This is a retrospective study of 22 fetuses presenting with DCS revealed by prenatal echography. We report the circumstances leading to the detection of a DCS and the neonatal outcome ...

Omphaloceles and gastroschisis are the most common defects of the fetal anterior abdominal wall. The association of an omphalocele with an anterior thoracic wall defect could result from a variety of congenital syndromes of which Cantrell's pentalogy is the most common. For proper surgical scheduling of the neonate, early diagnosis ...

The main features of trisomy 9 syndrome in mosaic and non-mosaic forms have been thoroughly described. Characteristic traits are low-set malformed ears, micrognathia, broad nose with bulbous tip, abnormal brain, congenital heart defects, abnormal hands and feet, genital abnormalities, and early death. We report a case of mosaic trisomy 9 ...

Anorectal atresia results from abnormal development of the anorectal septum. Prenatal diagnosis is difficult but the condition may be suspected by the sonographic demonstration of a dilated colon. We present the sonographic features of a fetus with anal atresia and a ventricular septal defect at 12 weeks of gestation. This ...

Cytogenetic investigations carried out on 1021 cases of Down syndrome revealed translocation in 46 cases. The most frequent was of t(14;21) and t(21;21) types. Most of the translocation DS cases (n = 31) were born to younger mothers (< 25 years), when compared to pure trisomy 21 DS cases. Parental ...

We report on a 16-week fetus, in which detection of increased nuchal translucency thickness and bilateral intracardiac echogenic foci led to the prenatal diagnosis of truncus arteriosus communis, interruption of the aortic arch and aplastic thymus. Cytogenetic examination confirmed a 22q11.2 microdeletion consistent with the suspected CATCH 22 syndrome. Subsequently ...

OBJECTIVE: To describe a unique sonographic sign for prenatal detection of severe penoscrotal hypospadias. METHODS: Ultrasound findings of hypospadias diagnosed in the second trimester of pregnancy in seven patients were compared with postnatal clinical features. All patients were recruited from routine sonographic examinations performed for various obstetric indications. RESULTS: In ...

A total of 5,841 obstetric patients were scanned over a period of 34 months. This study was undertaken to establish the anomalies that can be detected by ultrasound and to find out their relative frequencies in Bangladesh. Of the 41 cases of congenital anomalies, seven cases were of hydrocephalus, seven ...

BACKGROUND: Maternal anti-Ro and anti-La antibodies are associated with congenital heart block (CHB). Although endocardial fibroelastosis (EFE) has been described in isolated cases of autoantibody-mediated CHB, the natural history and pathogenesis of this disease are poorly understood. METHODS AND RESULTS: We retrospectively reviewed the clinical history, echocardiography, and pathology of ...

First described in 1971, partial trisomy 6p is uncommon and generally secondary to a familial reciprocal translocation. The proximal breakpoint of the reported cases varies from p11 to p25. We here report on a patient with moderate mental retardation, craniofacial and pigmentary anomalies, proteinuria, and hyperglycemia who was found to ...

Neu-Laxova is a rare, uniformly lethal, autosomal recessive condition with characteristic limb posturing, facial dysmorphic features, and central nervous system abnormalities. Forty-two cases of Neu-Laxova syndrome have been reported, with only four of these diagnosed prenatally. Three of the four cases were diagnosed at or after 32 weeks' gestation. The ...

OBJECTIVE: To evaluate the incidence and chronology of sonographic markers of neurological compromise in prenatally diagnosed neural tube defects. METHODS: We reviewed our ultrasound database from 1988 to 1999 to identify all cases of prenatally diagnosed neural tube defects. All patients received an initial detailed targeted ultrasound evaluation with subsequent ...

We report the finding of paternal isodisomy for chromosome 14 in a fetus found to have a der(14;14)(q10;q10) by amniocentesis. The pregnancy was complicated by severe polyhydramnios and elevated amniotic fluid alpha-fetoprotein (AFP). The infant showed features consistent with paternal uniparental disomy (UPD) including postnatal growth retardation, poor respiratory function, ...

Large fetal neck masses can cause airway obstructions with potential fetal demise after delivery. The relationship of the neck mass to airway structures can be defined prenatally with ultrasound and magnetic resonance imaging (MRI). The ex utero intrapartum treatment (EXIT) procedure can be used to obtain a fetal airway while ...

We report a female infant of 42 weeks gestation with a left sided diaphragmatic hernia and a hypoplastic left heart. A true double vagina, absent uterus and abnormal male gonads were found in the presence of normal external female genitalia. Conventional G band karyotyping of skin samples revealed a normal ...

OBJECTIVE: To investigate the prenatal appearance of the holoprosencephaly spectrum. METHODS: A database of 1750 fetuses with congenital anomalies identified by ultrasound was prospectively collected from 1987 to 2000. Among them, 30 cases (1.7%) with holoprosencephaly were prenatally identified and described. RESULTS: The prevalence of holoprosencephaly in the Health Region ...

A female newborn is reported with dextrocardia and a partial trisomy 20q, derived from a t(2;20) paternal translocation. The most discriminating findings of the condition include brachycephaly, bulging forehead, deep set eyes, short nose, large ears, dimpled chin, short neck and a heart defect. Previously reported patients with this rare ...

Cytogenetic analyses of fine-needle aspiration samples were performed on five cases of which three were alveolar rhabdomyosarcomas (RMS), one was embryonal RMS and one was RMS of mixed alveolar and embryonal histology. Three cases of alveolar RMS and one case of embryonal RMS showed t(2;13). A del(1)(p11) in a mixed ...

Chromosome 11q22.3-23.1 deletions involving the ataxia-teleangiectasia mutated (ATM) locus (11q-/ATM+/-) are detected at diagnosis in 10-20% of cases of B-cell chronic lymphocytic leukemia (CLL) and are associated with a relatively aggressive disease. The aim of this study was to ascertain whether 11q-/ATM+/- may appear late during the course of the ...

A case of prenatally diagnosed non-mosaic trisomy 20 in cells cultured from a chorionic villus sample (CVS)is presented. The term placental karyotype was also non-mosaic trisomy 20. The karyotype of the newborn was 46,XY/47,XY,+20 in foreskin cultures and in a second skin culture; blood lymphocyte culture was 46,XY. Aside from ...