Autopsy findings are described of six cases (from four families) of neonatal hemochromatosis, a defect featured by severe prenatal iron storage in the liver and in a number of visceral organs similarly as in the hereditary adult-type hemochromatosis. Genetically, the two disorders are different, however. All the cases showed a ...

We present transvaginal ultrasonographic findings of a fetus with Dandy-Walker malformation and associated massive obstructive hydrocephalus at 13 weeks' gestation. First-trimester ultrasonographic diagnosis of Dandy-Walker malformation is uncommon with only two such occurrences having been reported previously. These cases and recent reports of single gene transmission of this condition in ...

Upper tract dilatation presenting as renal pelvis dilatation with or without ureteric dilatation is one of the more common abnormalities detected on prenatal ultrasound scanning. The majority of cases are due to pelvi-ureteric and vesico-ureteric junction anomalies, and vesico-ureteric reflux. Prenatal diagnosis with ultrasound may be aided by biochemical analysis ...

OBJECTIVES: To examine the association between fetal talipes and other defects, and outcome in relation to postnatal surgery. METHODS: All cases of talipes presenting to the fetal medicine unit between 1993 and 1998 and cases of isolated talipes presenting to the ultrasound department between 1991 and 1998 were examined. The ...

Ultrasonography in a female fetus revealed cystic cervical hygroma, severe micrognathia, and vertebral and upper limb anomalies suggestive of cerebro-costo-mandibular syndrome (CCMS) which was diagnosed ultrasonographically at 16 weeks' gestation. The father is affected and presents with a Pierre Robin sequence, short stature and typical costovertebral anomalies. CCMS is a ...

A case of situs inversus totalis and transposition of the great arteries (TGA) was diagnosed prenatally at 25 weeks' gestation. Postnatal echocardiographic examination confirmed the antenatal findings. This case underscores the importance of recognizing situs abnormalities during obstetric and fetal echocardiographic examination, as they are often associated with cardiac anomalies. ...

CHARGE association has been diagnosed postnatally in increasing numbers since the first description in 1979. The acronym CHARGE includes the abnormalities ocular Colobomas (iris, retina or nervus opticus), Heart disease, Atresia of choanae, Retarded growth and development and/or central nervous system anomalies, Genital hypoplasia, Ear anomalies and deafness. So far, ...

Iniencephaly is a rare and lethal congenital malformation of the neural tube characterized by occipital bone defect, cervical dysraphism, fixed retroflexion of the fetal head and severe lordosis of the cervicothoracic spine. The etiology is unknown. Prenatally diagnosed cases of iniencephaly are rare because careful and early ultrasonographic evaluation is ...

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 ...

OBJECTIVES: To identify the etiology and pregnancy outcome of hydrops fetalis in a cohort of pregnancies referred to a tertiary maternal fetal medicine center in the UK. These data allow the review of a large series of pregnancies affected by hydrops fetalis and emphasize the importance of investigation and then ...

The prenatal diagnosis of a complete trisomy of the long arm of chromosome 1 is reported. Major ultrasound findings included: nuchal thickening, bi-temporal narrowing, a single choroid plexus cyst, and mild ventriculomegaly. There was a mass in the chest and abdomen, pleural effusion, ascites and a hyperechoic bowel. Skin edema ...

Complete hydatidiform mole and coexistent fetus (CMCF) is a rare occurrence and is associated with an increased risk of persistent gestational trophoblastic diseases. The aim of this study was to reveal a potential risk factor and to determine optimum management of CMCF cases. Molar tissues are cytogenetically divided into two ...

Prenatal thrombocytopenia is a rare event and is generally due to fetal infection. In very rare cases, fetal thrombocytopenia is induced by maternal IgG directed against the fetal platelets. This alloimmunisation could lead to in utero bleeding. We now report such a case, in which fetal thrombocytopenia was complicated by ...

Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by ...

Perineal ectopia testis is a rare congenital anomaly with incidence of < 1% of all cases of undescended testes. We report a case of perineal ectopic testis detected by ultrasound at 38 weeks gestational age presenting as an oval echogenic structure located beneath the male fetal genitals. The diagnosis was ...

The prenatal diagnosis of trisomy 20 mosaicism presents a challenge for practitioners and parents. The diagnosis implies an uncertain risk for an inconsistent set of physical and developmental findings, as well as a substantial chance for a child that is normal physically and developmentally. We report two girls (ages nine ...

Alveolar capillary dysplasia (ACD) has been described in conjunction with a number of congenital abnormalities. The case reported here was noted in utero to have duodenal atresia and a partial atrioventricular canal defect and a provisional diagnosis of trisomy 21 was considered. A fetal blood sample showed a normal karyotype. ...

The association of uniparental disomy (UPD) and short stature has been reported for different chromosomes and in several conditions. Therefore, we investigated a cohort of 21 patients referred because of intrauterine and postnatal growth retardation for UPD of chromosomes 2, 7, 9, 14, 16, and 20. Typing of short tandem ...

To our knowledge, 58 cases of trisomy 14 in association with hematological malignancies have been reported, predominantly in myeloid malignancies. We report two patients with trisomy 14 associated with myelodysplasia. The bone marrow showed trilineage dysplasia, monocytosis and only mild thrombocytopenia. A nonmosaic karyotype was seen in both patients and ...

OBJECTIVE: We report the management and outcome of 6 cases of non-immune fetal hydrops secondary to parvovirus B19 infection presenting over a 5-month period. METHODS: The Queen Mothers Hospital is a tertiary referral centre for fetal medicine. All cases were suspected on the basis of ultrasound evidence of hydrops. Two ...

Two new cases of balanced reciprocal translocation mosaicism (BRTM) are described, one with early miscarriages and a polymalformed child and the second showing an abnormal phenotype resembling the three cases previously reported in literature. The frequency of this aberration in the population referred to in our laboratory is determined and ...

The authors report on a female infant with partial trisomy 9 (pter-->q12) together with partial monosomy 22 (pter-->q11.23) that included DiGeorge critical region (DGCR), as a result of adjacent-2 disjunction. In addition to the clinical features characteristic of trisomy 9p syndrome, the patient had Truncus arteriosus type A2, bilateral hydronephrosis, ...

Triploidy is one of the most frequently observed chromosome abnormalities in spontaneous abortions in humans. The parental origin of the additional chromosome set is known to have a major impact on the phenotype of the foetuses and to result in differences in size and structure of the placenta. Early studies ...

BACKGROUND: Although the frequent association between distal 10q monosomy and urogenital anomalies suggests the presence of a gene(s) for urogenital development on distal 10q, molecular deletion mapping has not been performed for the putative gene(s). In this study, we examined genotype-phenotype correlations in patients with distal 10q monosomy. METHODS: This ...

An unreported coincidence of malformations has been studied by anatomical dissection in a mature male fetus. Auxiliary, this fetus was examined by computed tomography and the skeletal malformations were three-dimensionally reconstructed. The organs of the thorax as well as of the abdomen showed a visceral inversion. In the lumbar region, ...

Data were used to determine the population prevalence of aneuploidy and additional anatomic abnormalities in fetuses with open spina bifida. The ability of sonography to predict aneuploidy and identify additional anatomic abnormalities in euploid fetuses was assessed. All cases of spina bifida occurring in the state of Utah from 1995 ...

PURPOSE: The prenatal diagnosis of abnormal genitalia may have a major impact on prenatal counseling and postnatal outcome. We studied the accuracy and clinical implications of the prenatal diagnosis of abnormal genitalia. MATERIALS AND METHODS: Between 1991 and 1999 the prenatal and/or postnatal diagnosis of abnormal genitalia in 53 cases ...

In 1994, we published a case with trisomy 13 who presented with ectrodactyly [Urioste et al., 1994: Am J Med Genet 53:390-392]. Recently, Kuschel and Gillessen-Kaesbach [2000: Am J Med Genet 90:87-88] presented an infant with trisomy 13 who also had oligodactyly, and they considered their case as the second ...

A carrier status for balanced translocation in either of the parents increases the risk of congenital malformation in the offspring. A case of multiple congenital anomalies in a female newborn was found to be associated with trisomy 4p and partial monosomy 18q as a result of a reciprocal translocation, t(4; ...

Partial hydatidiform moles (PHM) have defined villous abnormalities and are usually triploid. Their diagnosis often can be made by morphology alone, without confirmation of ploidy, but considerable interobserver variability exists. Other genetic abnormalities such as trisomy can result in placentas with abnormal villous morphology (AVM) similar to that seen in ...

The Pallister-Killian syndrome is a rare disorder, which is clinically diagnosed and usually confirmed by the detection of mosaicism for an isochromosome 12p in fibroblast cultures. To date FISH on buccal mucosa has been used in only three cases and this detected high levels of mosaicism for the isochromosome. We ...

Hematopoietic disorders can be used as a suitable tool of additional information on the actual resolving power of comparative genomic hybridization (CGH). Therefore, CGH examination was performed of DNA extracted from 23 acute and 15 chronic myeloproliferative disorders which had just been analyzed using classical cytogenetic techniques. In nearly all ...

We report on an 18-month-old Japanese girl with 46,XX,del(22)(q13.1q13.2). To our knowledge, this is the first report of a case of interstitial deletion of a 22q13.1-q13.2 segment. Clinical features included hearing loss accompanied by inner ear anomalies, hypotonia and minor anomalies, such as a long philtrum, full eyelids, epicanthus, left ...

A case of an isolated cranio-facial vascular anomaly, extending from the left parietal bone to the lateral margin of the omolateral orbit is presented. Detection and differential diagnosis of fetal hemangioma is important for a variety of reasons. First, it allows the prenatal growth of the mass to be evaluated. ...

The authors recently managed a case of combined pure esophageal, duodenal, biliary, and pancreatic ductal atresia in a fetus and newborn with Trisomy 21. The authors present a case report and review of the literature, emphasizing the prenatal radiographic features of the combined lesions and the high incidence of associated ...

Recurrent non-immune hydrops fetalis has rarely been reported. In order to detect the risk of recurrence in a subsequent pregnancy, one should carefully consider the possibility of an inborn error of metabolism. In such cases, placental examination may be useful in detecting such metabolic storage disorders in the fetus, which ...

Uniparental disomy (UPD) is defined as the inheritance of both homologous chromosomes from only one parent. So far, maternal UPD 7 has been described in 28 cases. Here, we report 4 new cases, present clinical information of 5 cases previously reported by us, and review the clinical and molecular findings ...

OBJECTIVE: Detection of congenital urinary system anomalies is an important part of the prenatal ultrasound examination. The present study compares prenatal ultrasonographic findings and postmortem examinations of fetuses and infants with renal and urinary tract anomalies. DESIGN: Criteria for inclusion were an ultrasound examination at the National Center for Fetal ...

The authors report on a child with indifferent external genitalia consisting of severe micropenis with penile urethra leading to the tip of the glans and bilateral cryptorchidism. Diagnostic workup findings showed a female karyotype, homozygous 21-hydroxylase deficiency, and excessive testosterone exposure prenatally as a consequence of maternal pregnancy luteoma, altogether ...

Karyotype-phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories. Abnormal outcome was noted in 10/25 (40%) cases of 47,+13/46, 17/31 (54%) cases of 47,+18/46, 10/152 (6.5%) cases of 47,+20/46, and in 49/97 (50%) cases of ...

A case of amniotic band syndrome (ABS) presenting with acalvaria is reported. ABS includes a spectrum of non-genetic anomalies, varying from simple digital band constriction to major craniofacial and visceral defects, and even fetal death. Acalvaria is a rare congenital malformation characterised by the absence of the dome-like superior portion ...

We report on an additional fourth case of Prader-Willi (PW)-like phenotype and an interstitial deletion of 6q. Despite sharing clinical characteristics, patients with a PW-like phenotype and a deletion of 6q, have features which distinguish them from Prader-Willi syndrome (PWS) patients. This case emphasizes the need to examine patients with ...

A new case of a de novo trisomy 10cen-->10pter is described. The karyotype was exactly defined by high resolution banding and FISH analysis; the chromosome aberration was of maternal meiotic origin as demonstrated by RFLP analysis. Clinical data are reported and correlated with other trisomy 10p cases from the literature. ...

This paper describes the Prenatal Determinants of Schizophrenia (PDS) Study; three companion papers report the first results. The PDS Study was designed to study early antecedents of schizophrenia in a birth cohort of 1959-1967 for whom a wealth of archived prenatal data--including maternal sera--was available. Making use of the registries ...

OBJECTIVE: To assess the clinical significance of fetal isolated borderline cerebral lateral ventriculomegaly defined as a width of the atrium of the lateral cerebral ventricles of 10-15 mm in the absence of other sonographically demonstrable malformations. DESIGN: Retrospective study of the outcome of fetuses with a sonographic diagnosis of isolated ...

The occurrence of nasopharyngeal teratomas (NPT) is an infrequent event and prenatal detection of such tumors is even rarer. We present a case report and review of the literature (N = 78 cases), in which we describe the cytogenetic, DNA, and pathological findings of a fetus with a mature NPT ...

Williams-Beuren syndrome (WBS) results from a deletion of 7q11.23 in 90-95% of all clinically typical cases. Clinical manifestation can be variable and therefore, deletion size, inherited elastin (ELN) and LIM kinase 1 (LIMK1) alleles, gender, and parental origin of deletion have been investigated for associations with clinical outcome. In an ...

Deletion in the long arm of chromosome 13 is relatively rare. Fewer than 100 cases are reported in the literature. Patients with 13q deletion have widely variable phenotypes. Hand anomalies, when present, include absent or hypoplastic thumbs, bony synostoses of the metacarpals, and brachyphalangy of the middle phalanx of the ...

PURPOSE: We examined the potential role of sonography in the prenatal diagnosis of the VATER association, a spectrum of fetal anomalies that includes vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia. METHODS: The sonographic findings in 4 fetuses with prenatal diagnoses of VATER association were prospectively recorded, ...

We surveyed obstetricians who are members of the Australian Association of Obstetrical and Gynaecological Ultrasonologists for details of actions in which they had been asked to give an expert opinion between 1993 and 1998. We uncovered 50 cases, most of which involved missed fetal anomalies. Our findings suggest there is ...