11/64. Congenital varicella syndrome.The fetal consequences of chickenpox complicating pregnancy depends on the period of gestation at which the infection is contracted. The extremely rare classical form of congenital varicella syndrome, resulting from maternal varicella infection in the first trimester of pregnancy, is being reported here. The unusual features in this baby are bilateral hypoplastic lower extremities, fracture of bones, a normal electroencephalogram and phantom hernias of the anterior abdominal wall.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
12/64. prenatal diagnosis of de novo terminal deletion of chromosome 7q.OBJECTIVES: To present the prenatal diagnosis and perinatal findings of a de novo terminal deletion of chromosome 7q. CASE: amniocentesis was performed at 21-weeks gestation owing to a positive result of maternal serum multiple-marker screening. The 30-year-old woman, gravida 2, para 1, had a maternal serum multiple-marker screening test at 18-weeks gestation. The risk of down syndrome was 1/11 calculated from the gestational age, maternal age, a maternal serum alpha-fetoprotein level of 1.026 multiples of the median (MOM), and a maternal serum free beta-human chorionic gonadotrophin (hCG) level of 8.678 MoM. cytogenetic analysis of the cultured amniotic fluid cells revealed a de novo terminal deletion of 7q, 46,XX,del(7)(q35). ultrasonography showed intrauterine growth restriction, microcephaly, and tetralogy of fallot. The pregnancy was terminated subsequently. Grossly, the placenta was normal. On autopsy, the proband additionally manifested a prominent forehead, hypertelorism, epicanthus, upslanting palpebral fissures, a flat and broad nasal bridge, micrognathia, large low-set ears, overriding toes, and a normal brain. radiography demonstrated a normal spine. fluorescence in situ hybridization analysis demonstrated a 7q terminal deletion. Genetic marker analysis showed a maternally derived terminal deletion of chromosome 7(q35-qter). CONCLUSION: Fetuses with a de novo 7q terminal deletion may be associated with a markedly elevated maternal serum hCG level and abnormal sonographic findings of intrauterine growth restriction, microcephaly, and congenital heart defects in the second trimester.- - - - - - - - - - ranking = 2.2344352144513keywords = gestation, pregnancy (Clic here for more details about this article) |
13/64. Intracranial hemorrhage progressing to porencephaly as a result of congenitally acquired cytomegalovirus infection--an illustrative report.OBJECTIVE: To report ultrasound and magnetic resonance imaging (MRI) findings in a fetus with intracranial hemorrhage and porencephaly, presumed secondary to intrauterine cytomegalovirus (CMV) infection. methods: A 20-year-old, G2, P1 woman presented at 28.6 weeks' gestation after ultrasound examination demonstrated apparently isolated fetal ascites. Evaluation included maternal serology, amniocentesis, and repeated ultrasound examinations. Fetal MRI evaluation was also performed. The infant was born at 35 weeks' gestational age. RESULTS: Maternal serology was positive for CMV IgG. Intrauterine CMV infection was confirmed using polymerase chain reaction (PCR). At 31.6 weeks' gestation, ultrasound demonstrated borderline lateral cerebral ventriculomegaly. MRI of the fetal brain on the same day demonstrated parenchymal hemorrhage in the right posterior temporal and parietal regions along with mild ventricular enlargement. Sonography one day before delivery revealed brain parenchymal cystic change consistent with porencephaly of the right posterior temporal and parietal region. Postnatal ultrasound, computed tomography (CT), and MRI confirmed the diagnosis of a porencephalic cyst communicating with the posterior body of the right lateral ventricle. Placental pathology was consistent with CMV infection. CONCLUSION: This case report illustrates that fetal MRI is a useful adjunct in the evaluation of intrauterine infection with CMV.- - - - - - - - - - ranking = 2.0813222573415keywords = gestation (Clic here for more details about this article) |
14/64. lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia.lissencephaly with agenesis of the corpus callosum and rudimentary dysplastic cerebellum may represent a subset of lissencephaly with cerebellar hypoplasia (LCH) of unknown etiology, one that is distinct from other types of LCH. We present a detailed neuropathological description of an autopsy brain from a 7-day-old neonate born at 38-gestational weeks, presenting with this malformation. The brain was severely hydrocephalic and totally agyric. The corpus callosum was absent and deep gray matter structures indistinct. A rudimentary dysplastic cerebellum, dysplastic olivary nuclei and nearly complete absence of corticospinal tracts were also noted. Microscopic examination revealed various types of dysplastic and malformative features throughout the brain in addition to the classic four-layered neocortical structure characteristic of type I lissencephaly. Unique features in the present case were (1) bilateral periventricular undulating cortical ribbon-like structures mimicking fused gyri and sulci, associated with aberrant reelin expression, (2) large dysplastic neocortical neurons positive for phosphorylated neurofilament, calbindin-D28K, tuberin, hamartin, doublecortin, LIS1, reelin and Dab1, (3) derangement of radial glial fibers, and (4) disorganized cerebellar cortex and heterotopic gray matter composed exclusively of granule cells in the cerebellar deep white matter. The clinicopathological features in the present case are suggestive of a distinct category of lissencephaly with cerebellar involvement. We suggest a possible classification of this unique case among the LCH syndromes.- - - - - - - - - - ranking = 0.69377408578051keywords = gestation (Clic here for more details about this article) |
15/64. prenatal diagnosis of premature centromere division-related mosaic variegated aneuploidy.OBJECTIVES: To present the prenatal diagnosis of premature centromere division (PCD)-related mosaic variegated aneuploidy (MVA) and a review of the literature. CASE AND methods: A 33-year-old primigravida woman underwent amniocentesis at 22 weeks' gestation because of intrauterine growth restriction (IUGR), microcephaly, and oligohydramnios. amniocentesis revealed PCD-related MVA. Repeat amniocentesis two weeks later consistently showed PCD-related MVA. The pregnancy was terminated. The proband postnatally manifested dysmorphic facial features of microcephaly, hypertelorism, low-set ears, a broad nasal bridge, a thin upper lip, and overriding toes. At autopsy, the internal organs were unremarkable. Cytogenetic analyses of the cord blood, liver, lungs, skin, and placenta displayed PCD-related MVA in all tissues studied. The PCD frequencies for the cells in the amniotic fluid (first culture), amniotic fluid (second culture), cord blood, liver, lungs, skin, and placenta were 53.3%, 56.5%, 47.4%, 38.7%, 33.9%, 33.3%, and 40.8% respectively. CONCLUSION: The present case provides evidence that, in cases of pregnancy with PCD-related MVA, the cytogenetic result of the amniocytes correlates well with those of the fetal cells and chorionic villi cells. We suggest that prenatal sonographic detection of a complex of IUGR, microcephaly and oligohydramnios with or without central nervous system abnormalities should include a differential diagnosis of PCD-related MVA.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
16/64. Hereditary fetal brain degeneration resembling fetal brain disruption sequence in two sibships.We present two families with sib recurrence of a phenotype which was originally diagnosed as fetal brain disruption sequence (FBDS). In the first family from the Hindu population of Surinam, two brothers were affected. In the second family of Dutch descent a brother and sister were affected. Periodic ultrasonic sound examinations of brain development of the girl in the second family appeared normal until 26 weeks of gestation after which progressive destruction of her brain was seen. recurrence of the FBDS in a family is noteworthy as it is usually considered a sporadic disorder. Suggested causes in the literature are viral infections or early vascular interruption of the fetal brain with subsequent massive destruction of cerebral neurons. In 1995 the first familial case of FBDS was described, indicating a genetic cause. Recently Kavaslar et al. [2000: Am J Hum Genet 66:1705-1709.] found a locus on chromosome 16 in a large inbred Anatolian family with a phenotype resembling FBDS. Our experience and the literature show that the cause of the phenotype "FBDS" is heterogeneous. In case of sib recurrence the term FBDS should be avoided since a disruption sequence indicates an exogenous and sporadic cause of the disorder.- - - - - - - - - - ranking = 0.69377408578051keywords = gestation (Clic here for more details about this article) |
17/64. trisomy 16 in a mid-trimester IVF foetus with multiple abnormalities.An 18 week foetus with multiple system abnormalities was found to have full trisomy 16. This appears to be only the third reported case surviving into mid-gestation; typically, this common aneuploidy dies post-implantation. Similarities exist in the abnormalities found in the three cases suggesting that there is a 'surviving' trisomy 16 phenotype. It is characterised by: absent hemidiaphragm, pulmonary hypoplasia/aplasia, major cardiac defect, small chest, vertebral and rib defects, cystic kidneys, absent gall bladder, multiple spleens and imperforate anus, together with cleft palate, nuchal webbing/cystic hygroma, microcephaly, marked dysmorphic facial features and dorsiflexed great toe.- - - - - - - - - - ranking = 0.69377408578051keywords = gestation (Clic here for more details about this article) |
18/64. Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency.3-phosphoglycerate-dehydrogenase (3-PGDH) deficiency is an L-serine biosynthesis disorder, characterised by congenital microcephaly, severe psychomotor retardation, and intractable seizures. We report prenatal diagnosis of an affected fetus by dna mutation analysis. Ultrasound assessment showed a reduction in fetal head circumference from the 75th percentile at 20 weeks' gestation to the 29th percentile at 26 weeks. L-serine was then given to the mother, which resulted in an enlarged fetal head circumference to the 76th percentile at 31 weeks. At birth, the girl's head circumference was normal, and at 48 months' follow-up, her psychomotor development has been unremarkable. 3-PGDH deficiency is an inborn metabolic error that can be successfully treated antenatally.- - - - - - - - - - ranking = 0.69377408578051keywords = gestation (Clic here for more details about this article) |
19/64. Late-onset growth restriction in Galloway-Mowat syndrome: a case report.Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disorder and is characterized by marked intrauterine growth retardation, central nervous system anomalies, and early onset nephrotic syndrome. Of the reported cases in the literature, all were diagnosed postnatally. We describe a case of GMS in which only late-onset intrauterine growth restriction was detected by prenatal ultrasound. In her fourth pregnancy, the mother had delivered a male baby with clinical features of GMS who died at seven months of age due to early onset of nephrotic syndrome. In her fifth pregnancy, serial ultrasound examinations were normal during the first and second trimester of pregnancy. growth restriction and microcephaly were not detectable until 28 to 32 weeks' gestation. At 40 weeks' gestation, a female baby was born with dysmorphic features of GMS. nephrotic syndrome developed after birth and renal biopsy revealed minimal change nephrotic syndrome. The prenatal course of this case suggests GMS may not be diagnosed in early pregnancy and the only abnormality detected before birth was intrauterine growth restriction.- - - - - - - - - - ranking = 2keywords = gestation, pregnancy (Clic here for more details about this article) |
20/64. An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria.BACKGROUND: Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in the case of maternal phenylketonuria, to the foetus. The maternal phenylketonuria syndrome is caused by high blood phenylalanine concentrations during pregnancy and presents with serious foetal anomalies, especially congenital heart disease, microcephaly and mental retardation. CASE PRESENTATION: We report on an affected Albanian woman and her seven children. The mother is affected by phenylketonuria and is a compound heterozygote for two pathogenetic mutations, L48S and P281L. The diagnosis was only made in the context of her children, all of whom have at least one severe organic malformation. The first child, 17 years old, has a double-chambered right ventricle, vertebral malformations and epilepsy. She is also mentally retarded, microcephalic, exhibits facial dysmorphies and small stature. The second child, a girl 15 years of age, has severe mental retardation with microcephaly, small stature and various dysmorphic features. The next sibling, a boy, died of tetralogy of fallot at the age of three months. He also had multiple vertebral and rib malformations. The subsequent girl, now eleven years old, has mental retardation, microcephaly and epilepsy along with facial dysmorphy, partial deafness and short stature. The eight-year-old child is slightly mentally retarded and microcephalic. A five-year-old boy was a premature, dystrophic baby and exhibits mental retardation, dysmorphic facial features, brachydactyly and clinodactyly of the fifth finger on both hands. Following a miscarriage, our index case, the youngest child at two years of age, is microcephalic and mentally retarded and shows minor facial anomalies. All children exhibit features of phenylalanine embryopathy caused by maternal phenylketonuria because the mother had not been diagnosed earlier and, therefore, never received any diet. CONCLUSION: This is the largest family suffering from maternal phenylketonuria reported in the literature. Maternal phenylketonuria remains a challenge, especially in woman from countries without a neonatal screening program. Therefore, it is mandatory to be alert for the possibility of maternal phenylketonuria syndrome in case of a child with the clinical features described here to prevent foetal damage in subsequent siblings.- - - - - - - - - - ranking = 0.15311295710975keywords = pregnancy (Clic here for more details about this article) |
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