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Biomedical subjects

F Qureshi

Publications and source records attributed to F Qureshi.

106 records · Page 6Linked to original sources

Prenatal diagnosis of cloacal dysgenesis sequence: differential diagnosis from other forms of fetal obstructive uropathy.

Cloacal dysgenesis sequence (CDS) is a rare cause of fetal obstructive uropathy (FOU). The prenatal differentiation of CDS from other FOU is important because CDS is not amenable to in utero surgical intervention in the form of vesicoamniotic shunts. We evaluated the prenatal characteristics of 8 fetuses with CDS, including a pair of monozygotic twins concordant for CDS, in order to identify features that would enable differentiation from other forms of FOU. Pathologic examination in each of the 8 fetuses confirmed characteristic features of absent anal, genital, and urinary orifices associated with a smooth perineum and abnormal phallic development. Associated abnormalities included dysplastic kidneys in 6, hydroureters in 5, intraluminal colonic calcifications in 2, and hypoplastic lungs in 5. Five of these fetuses initially presented as posterior urethral valve syndrome. Six fetuses had megacystis, and 4 underwent vesicocenteses to evaluate urinary electrolytes, all of which were in the 'poor-risk' category. Six fetuses were male and 2 female, contradicting earlier claims that CDS occurs only in females. Evaluation of candidates for in utero surgical intervention should include fetal karyotype, and CDS should be suspected in cases of FOU in whom the karyotype reveals a male fetus and sonographic evaluation demonstrates colonic calcifications or abnormal phallic development. Diagnostic microendoscopy may be of benefit in such cases.

Adult↗

Prenatal diagnosis of smith-magenis syndrome (del 17p11.2).

Smith-Magenis syndrome is associated with a microdeletion of the short arm of chromosome 17 with phenotypic abnormalities including dysmorphic facies, self-injurious behavior, mental and neurologic disturbances, and congenital cardiac defects. The majority of patients present in mid-childhood or adulthood. We describe a fetus in which the diagnosis of Smith-Magenis syndrome was made at 16 weeks of gestation following amniocentesis for increased risk for Down syndrome detected by second-trimester maternal serum screening. Ultrasound evaluation revealed multiple fetal anomalies. The pregnancy was terminated at 20 weeks of gestation. Post-mortem findings included dysmorphic facial features, tetralogy of Fallot, a thymic duct remnant, pancreatic islet cell hyperplasia, and abnormal lung fissuring. This represents the second case of prenatally diagnosed Smith-Magenis syndrome. Molecular genetic techniques in the diagnosis of the Smith-Magenis syndrome and other small deletions are becoming an important tool in the genetic evaluation of ultrasound abnormalities.

Abnormalities, Multiple↗

Fetal obstructive uropathy in trisomy syndromes.

Fetal obstructive uropathy has seldom been described in trisomy syndromes, and its relationship to these syndromes remains unclear. Five trisomic male fetuses, four with trisomy 18 and one with trisomy 21, were identified out of 110 fetuses evaluated for fetal obstructive uropathy. We performed detailed examination on the urinary tracts of four of these fetuses, three with trisomy 18 and one with trisomy 21, following termination in the second trimester. All four had a markedly distended urinary bladder (megacystis), abdominal wall distension, and a small, poorly developed urethra thoughout its full length. All four also had poor development of the prostate with virtual absence of glandular development, as compared to age-matched controls. Posterior urethral valves were not identified in any case. Three of the fetuses (two with trisomy 18 and one with trisomy 21) had unilateral or bilateral hydroureters, and resulting renal tubulocystic or glomerulocystic change. Review of this database reveals an unexpectedly high frequency of trisomies, particularly trisomy 18, suggesting that the relationship may not be coincidental. Abnormal prostate development may be causally related to fetal obstructive uropathies and may be an under-recognized trait in trisomy syndromes. Karyotypic analysis of all fetuses with obstructive uropathy is important since in utero surgical intervention may be contraindicated in cases of fetal aneuploidy.

Chromosomes, Human, Pair 18↗

Meroanencephaly: pathology and prenatal diagnosis.

Meroanencephaly is a rare form of anencephaly characterized by malformed cranial bones and a median cranial defect, through which protrudes abnormal tissue, called the area cerebrovasculosa. Area cerebrovasculosa denotes abnormal spongy, vascular tissue admixed with glial tissue ranging from a thin membrane to a large pseudoencephalic mass simulating cerebral tissue, that is composed of connective tissue, hemorrhagic vascular channels, glial nodules, and disorganized choroid plexuses. There are three types of anencephaly: (1) meroanencephaly, where there is rudimentary brain tissue and partial formation of the cranium; (2) holoanencephaly, the most common type, in which the brain is completely absent, and (3) craniorachischisis, the most severe, where area cerebrovasculosa and area medullovasculosa fill both cranial defects and the spinal column. In meroanencephaly, there is a median defect present, through which protrudes the area cerebrovasculosa. We present 3 cases of meroanencephaly diagnosed prenatally, along with histopathologic analysis. One case showed ectopic glial tissue in the lung and adrenal medullary hyperplasia. Two cases were diagnosed in the early second trimester by ultrasound scanning. Meroanencephaly may be mistaken for encephalocele both at the bedside exam and sonographically, and should be included in the differential for protruding anterior cranial masses.

Adult↗

Endoscopically assisted, ultrasound-guided fetal muscle biopsy.

Direct endoscopic visualization of in utero fetal muscle biopsy was performed in 2 cases for which the primary guidance for the procedure remained real time ultrasound. Direct visualization aids in the precise placement of the biopsy gun which may enable the procedure to be done at earlier gestational ages. At the currently used gestational ages (i.e. 18+ weeks), it does not substantially improve the procedure.

Biopsy↗

In utero fetal urine analysis and renal histology correlate with the outcome in fetal obstructive uropathies.

We evaluated 8 second-trimester fetuses who had undergone termination because of obstructive uropathies and correlated the renal histopathology with fetal urine biochemical prognostic parameters. Prenatal evaluation included serial vesicocentesis, karyotyping, and sonography. According to the urinary biochemical parameters, 3 fetuses were classified to be in the good prognostic category, 2 in the borderline prognostic category, and 3 in the poor prognostic category. The kidneys were evaluated both grossly and microscopically for hydronephrosis, pelvicaliceal dilatation, cystic changes and fibrosis. Fetuses in the poor prognostic category had severely damaged renal architecture, microcysts, macrocysts, and extensive fibrosis. Fetuses in the good prognostic category had minimal histopathologic changes with preservation of the architecture. Fetuses in the borderline category showed a moderate degree of renal damage but with focally preserved architecture. We conclude (1) that there is a direct correlation between elevation in urinary electrolytes and proteins and extent of underlying renal histopathological damage and (2) that appropriate detailed prenatal evaluation of the renal function can identify fetuses who could potentially benefit from in utero therapy.

Calcium↗

Prenatal diagnosis of fetal herpes simplex infection.

BACKGROUND: Intrauterine infection with herpes simplex virus (HSV) has been associated with a significant number of neonatal HSV infections. When these infections begin in utero, the associated morbidity is more severe, and treatment regimens may be less effective. CASE: A 24-year-old nullipara with an abnormal triple screen and multiple ultrasound abnormalities at 19 weeks' gestation underwent amniocentesis and cordocentesis. Laboratory results were consistent with HSV infection. The patient elected to terminate the pregnancy, and on postmortem examination of the fetus, evidence of disseminated disease was present. CONCLUSION: We believe that this case documents a relationship between HSV infection and findings on ultrasound that have previously been described in association with other in utero infections. We suggest that general viral cultures of the amniotic fluid be done when in utero infection is suspected.

Adult↗

Trisomy 21 placentas: histopathological and immunohistochemical findings using proliferating cell nuclear antigen.

OBJECTIVE: The cause of growth retardation in trisomy 21 and other autosomal trisomies is not known, but may be the result of defective cell proliferation, slowing of the cell cycle, or placental structural abnormalities. Abnormalities of the fetal cell cycle may be reflected in placental growth and can be detected using proliferating cell nuclear antigen (PCNA). METHODS: Twelve second-trimester and six third-trimester trisomy 21 placentas were examined histopathologically and stained immunohistochemically using antibodies to PCNA. Normal age-matched placentas were used as controls. RESULTS: The second-trimester trisomy 21 placentas all exhibited many large irregular hypovascular villi. The third-trimester trisomy 21 placentas showed two patterns: (i) many large, irregular hypovascular villi, and (ii) relatively normal-appearing villi with only a few abnormal villi and focal hypervascularity. PCNA staining was significantly greater in second-trimester placentas when compared to third-trimester placentas for both trisomy 21 and controls. There was no significant difference in PCNA staining in trisomy 21 placentas when compared to the normal age-matched controls. CONCLUSIONS: PCNA staining indicates no significant differences in proliferation between normal and trisomy 21 placentas. Trisomy 21 placentas show villus abnormalities, including hypovascularity.

Chorionic Villi↗

Meconium drug screening of stillborn infants: a feasibility study.

OBJECTIVE: Meconium drug testing of liveborn infants is highly sensitive (87%) and specific (100%). Accurate knowledge of drug use in mothers of stillborns would be beneficial. We determined the feasibility of noninvasive meconium drug screening for opiates and cocaine in stillborns. METHODS: Stillborn infants delivered at our hospital had meconium collected using a 4-mm spatula inserted into the anus. Specimens were analyzed using gas chromatography. Charts were reviewed. RESULTS: Of the 30 specimens obtained, 26 were below the optimal amount needed (0.5 g). Regardless, all samples were analyzed and three were positive for cocaine (10%), none for opiates. Two of the 3 positive samples were of 'insufficient quantity'. In one, the presumptive cause of fetal demise was diabetes, with no additional factors suggesting substance abuse. The other fetal loss was due to idiopathic preterm labor at 21.5 weeks, with a positive UDS. CONCLUSION: In this pilot study, inability to obtain an optimal volume of meconium occurred frequently. However, important and unexpected laboratory data were generated even with 'insufficient quantity'. This highlights the need to develop more refined methodologies for this screening tool in stillborn fetuses.

Adult↗

Concordance for cloacal dysgenesis.

Monozygotic (MZ) twins concordant for cloacal dysgenesis were diagnosed at 15 weeks' gestation on ultrasound exam. The structural alterations result from abnormal morphogenesis of the cloacal membrane and contiguous anlage with resultant secondary changes. These defects are suggestive of teratogen exposure or an endogenous event early in gestation, resulting in MZ twinning and the development of a polytopic field defect.

Cloaca↗

Chronic villitis of unknown etiology in twin gestations.

Chronic villitis of unknown etiology (CVUE) is a frequently encountered placental lesion associated with poor pregnancy outcome. We examined 22 twin placentas with CVUE to determine its distribution and clinicopathological significance in twin gestations. CVUE affected both twins' placental portions with an approximately equal degree of severity in 12 of 22 cases (9 dichorionic, 3 monochorionic). Only one twin's placental portion was affected in 8 cases (8 dichorionic). In the remaining 2 (1 dichorionic, 1 monochorionic), both placental portions were affected, but the CVUE was significantly more severe in one. The CVUE varied in extent from rare foci to diffuse involvement. Seven of the 22 (32%) pairs of twins had intrapair weight differences of 15% or greater, and 14 pairs were premature. The twins with placental involvement by CVUE had a lower mean birthweight than their cotwins with less or no CVUE; however, these results were not statistically significant. CVUE may affect placentas from one or both twins, and may be a cause of discordant twin size.

Adult↗

Subamnionic vernix caseosa.

Vernix caseosa occasionally dissects underneath the amnion, presumably following rupture of the amnion prior to rupture of the chorion laeve. We describe the clinicopathological features of 18 cases in which large quantities of vernix caseosa were present beneath the amnion of the parietal membranes or the chorionic plate. The subamnionic vernix caseosa was an unexpected microscopic finding in each case and was not associated with any inflammation, giant cell reaction, or other chronic change in the adjacent membranes. The gestational age ranged from 29 to 42 weeks (mean, 37). Five (28%) of the 18 were twin pregnancies. Five (28%) were delivered by cesarean section. In no case was there a history of amniocentesis, prolonged rupture of membranes, or amnionic fluid leakage. None of the mothers had signs of amnionic fluid embolism. The absence of tissue response around the vernix caseosa suggests rupture of the amnion close to the time of delivery.

Adult↗

Adrenocortical heterotopia in the placenta.

We report two cases of term third-trimester placentas with microscopic nodules of cells histopathologically identical to adrenocortical tissue. Adrenocortical tissue within the placenta is exceedingly rare, with only one previous case reported. We discuss the possible histogenesis of this entity.

Adrenal Cortex↗

Apartheid.

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Australia↗

Histologic features of chorioamnion membrane rupture: development of methodology.

This study developed a set of histologic features that will allow subclassification of placentas with preterm premature rupture of membranes. Placentas were obtained from patients participating in a multi-institutional NICHD Maternal-Fetal Medicine Unit Network study of antimicrobial therapy after preterm premature rupture of membranes. The rupture site was sampled by inking the open sac margin and rolling a membrane strip in four quadrants from the ink to the placental margin. Independently, four pathologists used a provisional feature list to score the slides from 15 placentas. A concordance analysis was performed on those results. With those results, the slides were reviewed concurrently to discover the source of disagreements and to revise the feature list. The sampling method frequently demonstrated a rupture site with histology distinct from that of the remainder of the membranes. After review of the preliminary scoring results, 29 features of membrane histology present in preterm premature rupture could be objectively described with agreement among four pathologists. The feature list allows both novel and commonly recognized histologic features of fetal membranes to be recorded with objectivity. This list, with the described sampling technique, is presented as a tool for clinical correlation in studies of membrane rupture, especially in preterm, premature rupture.

Amnion↗