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Male Baby (male + baby)
Selected AbstractsFetal sex determination using circulating cell-free fetal DNA (ccffDNA) at 11 to 13 weeks of gestationPRENATAL DIAGNOSIS, Issue 10 2010Ranjit Akolekar Abstract Objective To examine the performance of a mass spectrometry-based detection platform using three Y-chromosome sequences for fetal sex determination from circulating cell-free fetal DNA (ccffDNA) in maternal blood in the first trimester of pregnancy. Methods We extracted ccffDNA for the determination of fetal sex from stored maternal plasma obtained at 11 to 13 weeks' gestation from singleton pregnancies with documented fetal gender. Mass spectrometry was used to examine 236 specimens for the presence of three Y-chromosome sequences (SRY, DBY and TTTY2). The sample was classified as male, female or inconclusive depending on the detection of three, one/none and two sequences, respectively. Results Three (1.3%) of the 236 cases were classified as invalid due to the absence of a well-defined spectral peak for TGIF and 22 (9.3%) were reported as inconclusive. In the 211 cases with a valid result, the fetal sex was correctly identified in 90 of 91 male babies and 119 of 120 female babies giving an accuracy of 99.1% and sensitivity and specificity for prediction of male fetuses of 98.9 and 99.2%, respectively. Conclusion Fetal sex determination can be accurately determined from maternal ccffDNA in the first trimester of pregnancy using mass spectrometry analysis. Copyright © 2010 John Wiley & Sons, Ltd. [source] Blocked D phenomenon, a rare condition with Rh D haemolytic disease of newborn , a case reportINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 3 2008P. V. SULOCHANA Summary Accurate Rh testing can be difficult if the red cells are heavily coated with IgG anti D antibodies , a phenomenon called blocked D. Repeatedly, Rh D negative blood group report was obtained in a newborn male baby with severe haemolytic disease and features of kernicterus born to a 2nd gravida B Rh D negative mother. On investigation, the baby was grouped as B Rh D negative by direct grouping, but after elution, D antigen was detected and phenotyped as CcDe. Antibody was identified as anti D. All D antigens of the baby were fully saturated with anti D leaving any antigen to bind with antisera. Direct Coombs test was strongly positive even after three exchange transfusions. The baby also had free antibody apart from the red cell bound and the red cell eluate, gave a titre of 512. The mother was grouped as B Rh D negative and phenotyped as ce. She had IgM and IgG class of anti D with titres 32 and 1024 respectively. She also had IgM anti C (only in neat) and IgG anti-A with a titre of 512. [source] Translocation of a cerclage band into the endocervical canal after preconception transabdominal cervico-isthmic cerclageJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 1 2010Moon-Il Park Abstract A 34-year-old woman, who had a history of five spontaneous losses and failures of two McDonald purse-string cerclages, underwent a transabdominal cervico-isthmic cerclage (TCC). She became pregnant 17 months after TCC. At 35 weeks of gestation, she was admitted to our hospital due to preterm labor and delivered a healthy female baby (2270 g) by cesarean section. After delivery of the newborn infant, we found a migration of about one third of the cerclage band into the endocervical canal. Two years later, she had one further pregnancy, reached 33 weeks of gestation, and delivered a 1450 g male baby by cesarean section due to a preterm labor without any signs of infection. Although it could have been a case of pure coincidence, we take a chance to speculate that the migration of the cerclage band into the endocervical canal might have been the reason for the preterm labor, and it must have been removed at her first cesarean section and replaced by a new cerclage band for her next pregnancy. [source] Parental mosaic trisomy 21 detected following maternal cell contamination of an amniotic fluid specimen from a normal male pregnancyPRENATAL DIAGNOSIS, Issue 9 2007Melissa L. Street Abstract We report a case of maternal mosaic trisomy 21 ascertained at prenatal diagnosis as a result of maternal cell contamination of an amniotic fluid sample. A 34 year old female was referred for karyotyping because of a previous trisomy 21 pregnancy. Chromosome analysis of primary in situ cultures showed a karyotype of 47,XX, + 21[6]/46,XY[32]/46,XX[2]. Molecular testing demonstrated maternal cell contamination of the amniotic fluid sample and G-banded karyotyping of maternal blood showed that 3/200 cells had trisomy 21, consistent with the mother being a Down syndrome mosaic. A normal male baby with a 46,XY chromosome complement was delivered at 30 weeks. This case emphasises the need for close collaboration between cytogenetic and molecular genetics laboratories in resolving unusual cases of mosaicism. Copyright © 2007 John Wiley & Sons, Ltd. [source] Perinatal imaging findings of inherited Sotos syndromePRENATAL DIAGNOSIS, Issue 10 2002Chih-Ping Chen Abstract Objectives Although most cases of Sotos syndrome are sporadic, familial cases have been described. In familial cases, the most likely mode of inheritance is autosomal dominant with variable expressivity. We present the perinatal imaging findings of an inherited case. Case This was the second pregnancy of a 32-year-old woman with Sotos syndrome. She had given birth to her first child with macrocephaly, ventriculomegaly, macrocisterna magna and neonatal death at 28 weeks' gestation. During this pregnancy, prenatal ultrasonography at 18 weeks' gestation showed only mild dilatation of lateral ventricles. The pregnancy was uneventful until 31 weeks' gestation when fetal macrocephaly, right hydronephrosis, and polyhydramnios began to develop. At 33 weeks' gestation, dilatation of the third ventricle and fetal overgrowth were obvious. At 34 weeks' gestation, macrodolichocephaly, hypoplasia of the corpus callosum, enlargement of the lateral ventricles with prominent occipital horns, and macrocisterna magna were noted. At 36 weeks' gestation, a male baby was delivered with macrodolichocephaly, frontal bossing and a facial gestalt of Sotos syndrome. Birth weight was 3822 g, length 55 cm, and occipitofrontal head circumference 41 cm (all > 97th centile). The magnetic resonance imaging (MRI) scans demonstrated enlargement of the lateral ventricles, the trigones, and the occipital horns, hypoplasia of the corpus callosum, a persistent cavum septum pellucidum and cavum vergae, and macrocisterna magna. Conclusions Fetuses at risk for Sotos syndrome may present abnormal sonographic findings of the brain and the skull in association with overgrowth, unilateral hydronephrosis and polyhydramnios in the third trimester. Perinatal MRI studies aid in confirmation of the diagnosis. Copyright © 2002 John Wiley & Sons, Ltd. [source] First Successful Pregnancy after Addition of Enoxaparin to Sildenafil and Etanercept Immunotherapy in Woman with Fifteen Failed IVF Cycles , Case ReportAMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 2 2010gorzata Jerzak Citation Jerzak M, Niemiec T, Nowakowska A, Klochowicz M, Górski A, Baranowski W. First successful pregnancy after addition of enoxaparin to sildenafil and etanercept immunotherapy in woman with fifteen failed in vitro fertilization (IVF) cycles , case report. Am J Reprod Immunol 2010; 64: 93,96 Problem, Does addition of enoxaparin to sildenafil and etanercept immunotherapy improve IVF outcome? Methods, Report of a striking case with 15 IVF failures. Result, When enoxaparin was added, the 16th IVF cycle generated a healthy male baby. Conclusions, Combination therapy that includes a heparin may allow successful IVF outcome and this issue merits further study. [source] Cryptic mosaicism for monosomy 20 identified in renal tract cellsCLINICAL GENETICS, Issue 3 2006E-G Stefanou We report a post-natal case of mosaic aneuploidy for chromosome 20 in a 4 months old male baby with an abnormal phenotype including dysmorphic features (asymmetric facial growth), ventricular septal defect, hypotonia and bilateral vesicoureteric reflux. Conventional cytogenetics on peripheral blood showed 1 cell of 200 with 47,XY,+20. Further investigations using fluorescent in situ hybridization (FISH) on a urine sample, with a centromere probe for chromosome 20, revealed 39 of 50 cells giving one signal indicative of monosomy 20. FISH analysis of a buccal smear was consistent with disomy 20 as was conventional cytogenetics on skin fibroblasts. This is the fourth reported case of mosaic monosomy 20, the second case where monosomy 20 is present with a trisomy 20 cell and the first case with each aneuploidy found in two separate tissues. The identification of mosaicism is a difficult task since the abnormal cells can be present only in certain tissues and may disappear with selection as the fetus develops, thus leading to single-cell abnormalities that may get dismissed (pseudomosaicism). The use of FISH in this case was crucial in identifying the cryptic mosaic monosomy 20 cell line. The likely mechanism of origin is post-zygotic nondisjunction giving rise to monosomy, disomy and trisomy cell(s) in the same or different tissues. Although no other trisomy 20 cells were found, the abnormal phenotype plus the finding of a monosomy 20 cell line make this mechanism the most plausible explanation. Had we dismissed the single-cell abnormality, the cryptic mosaicism of monosomy 20 would not have been identified. A detailed analysis of all tissues accessible in conjunction with careful consideration of all clinical information available is the best course of action in suspected mosaicism. [source] | |||||||||||||