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Amniocentesis
Kinds of Amniocentesis Selected AbstractsTiming of early amniocentesis as a function of membrane fusionJOURNAL OF CLINICAL ULTRASOUND, Issue 1 2004Michael G. Pinette MD Abstract Purpose The purpose of this prospective study was to evaluate sonographically the timing of membrane fusion and to determine its possible effect on the timing of amniocentesis. Methods Between May 18, 1998, and January 31, 2002, the status of amnion fusion in pregnant patients at 9,15 weeks' menstrual age was identified in women who were to undergo obstetric sonography. Amniocentesis was performed if even a small area of fused membranes that could be traversed was identified; if the membranes were completely unfused, amniocentesis was delayed. The effect of membrane fusion in terms of the need to reschedule amniocentesis was evaluated. Results We examined a total of 594 patients. Membrane fusion occurred progressively with increasing menstrual age. One hundred six early amniocenteses were scheduled, and 70 were performed; the others were delayed because the membranes were unfused. Our requirement that an area of membrane fusion be found before we would perform amniocentesis resulted in rescheduling the procedure 24,38% of the time. Conclusions Membrane fusion, as seen sonographically, is a function of menstrual age. Even by 15 weeks, a portion of the amnion may be unfused with the chorion. Amniocenteses scheduled for early in the pregnancy may need to be delayed until later, when the membranes are at least partially fused, allowing safe passage of a needle. Delaying the procedure may incur higher expense but may be important in terms of lessening the risk involved. © 2003 Wiley Periodicals, Inc. J Clin Ultrasound 32:8,11, 2004 [source] Second trimester amniotic fluid annexin A5 levels and subsequent development of intrauterine growth restrictionPRENATAL DIAGNOSIS, Issue 10 2008Ozgur Dundar Abstract Objective The purpose of this study was to investigate the levels of annexin A5 in second trimester amniotic fluid, and evaluate its correlation with subsequent development of intrauterine growth restriction (IUGR). Method A total of 264 women undergoing mid-trimester amniocentesis between January 2007 and December 2007 were enrolled for the study. Amniocentesis was performed for routine indications. After delivery, outcome data were obtained. Results Maternal age, frequency of nulliparity, fetal sex and gestational week at amniocentesis were similar between groups. As expected, prevalence of smoking was higher in IUGR developing mothers. Significant positive correlations were present between annexin A5 levels and gestational age at amniocentesis (P = 0.02) and maternal age (P = 0.01). Linear regression analysis revealed that annexin A5 levels were positively correlated with patient's age. Smoking women had significantly lower annexin A5 levels in the mid-trimester amniotic fluid (9.9 ± 2.3 and 10.7 ± 1.3 ng/mL, P = 0.01). Logistic regression analysis demonstrated that after controlling for gestational age at amniocentesis, smoking, maternal age, and maternal hypertension, annexin A5 was not significantly associated with IUGR (P = 0.07). Conclusion Amniotic fluid annexin A5 levels in the mid-trimester are not associated with IUGR at birth after controlling for maternal smoking and other confounders. Copyright © 2008 John Wiley & Sons, Ltd. [source] Amniocentesis in the third trimester of pregnancyPRENATAL DIAGNOSIS, Issue 11 2007Keelin O'Donoghue Abstract Background Amniocentesis in the third trimester, which reduces risks of procedure-related miscarriage but still allows termination of affected fetuses, may be applicable in some pregnancies. The implications of deferring amniocentesis include complications, delivery before the test and increased amniotic fluid culture failure rates. We investigated the indications, complications, karyotype results and laboratory failure rates of third-trimester amniocentesis. Methods We studied all women who underwent third-trimester amniocentesis from 2000 to 2006. Data were collected from ultrasound databases, computerised records and individual chart review. Results We reviewed 165 pregnancies that underwent amniocenteses after 28 weeks. Median maternal age at amniocentesis was 32 years and median gestation, 32+2 weeks. Indications included malformation (60/165), soft markers (37/165), maternal request (12/165), and positive screening test (11/165). Of the 49 women(29.7%) who declined second-trimester amniocentesis, 24.5% had twins and 38.8%, malformations. Amniocentesis was not offered to 116 women: 57/116 (49.1%) third-trimester referrals, 25/116 (21.5%) diagnosed late and the remainder, low-risk indications. Fetal karyotype was abnormal in 17 cases (10.3%). Seven women who initially declined amniocentesis had abnormal results compared with one advised to have late amniocentesis. Culture failure rate was 9.7%, however results were obtained by Quantitative fluorescent polymerase chain reaction (QF-PCR) from 164/165 samples. Complication rate was 1.2%. Conclusion For late diagnoses and for low-risk indications, third-trimester amniocentesis is an acceptable option, especially when utilising QF-PCR with cytogenetic culture. Copyright © 2007 John Wiley & Sons, Ltd. [source] Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3,q31.3) associated with Gorlin syndromePRENATAL DIAGNOSIS, Issue 8 2006Chih-Ping Chen Abstract Objectives To present the perinatal findings and the molecular cytogenetic analyses of a de novo interstitial deletion of 9q (9q22.3,q31.3) associated with Gorlin syndrome. Methods Amniocentesis was performed at 18 weeks' gestation on a 27-year-old woman at a community hospital because of a high Down syndrome risk of 1/178, a low maternal serum ,-fetoprotein (MSAFP) level of 0.66 multiples of the median (MoM), and a high maternal serum human chorionic gonadotrophin (MShCG) level of 3.13 MoM. The karyotype was initially determined to be 46,XY. However, fetal macrocephaly and overgrowth were found at 30 weeks' gestation. Postnatally, the infant manifested characteristic features of Gorlin syndrome. High-resolution chromosomal bandings of the peripheral blood lymphocytes, polymorphic DNA marker analysis to determine the parental origin of the deletion, array comparative genomic hybridization (CGH) to determine the extent of the chromosomal deletion, and fluorescence in situ hybridization (FISH) to determine the deletion of the PTCH gene were performed. Results The 850-band level of resolution showed an interstitial deletion of 9q (9q22.3,q31.3). The parental karyotypes were normal. The karyotype of the proband was 46,XY,del(9)(q22.3q31.3)de novo. Polymorphic DNA marker analysis revealed that the deletion was of paternal origin. Array CGH revealed that the deleted region was about 12 Mb, encompassing the segment from 9q22.32 to 9q31.3. FISH analysis using the BAC probe RP11-34D4 and the probe RP11-43505 indicated the deletion of the PTCH gene. Conclusions Fetuses with an interstitial deletion of 9q (9q22.3,q31.3) may be associated with a low level of MSAFP and a high level of MShCG in the second trimester, and sonographic findings of overgrowth and macrocephaly in the third trimester. Copyright © 2006 John Wiley & Sons, Ltd. [source] De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucencyPRENATAL DIAGNOSIS, Issue 3 2006Sophie Brisset Abstract Objectives Increased nuchal translucency (NT) during the first trimester of pregnancy is a useful marker to detect chromosomal abnormalities. Here, we report a prenatal case with molecular cytogenetic characterisation of an abnormal derivative chromosome 9 identified through NT. Methods Amniocentesis was performed because of an increased NT (4.4 mm) and showed an abnormal de novo 46,XX,add(9)(p24.3) karyotype. To characterise the origin of the small additional material on 9p, we performed a microarray comparative genomic hybridisation (microarray CGH) using a genomic DNA array providing an average of 1 Mb resolution. Results Microarray CGH showed a deletion of distal 9p and a trisomy of distal 17q. These results were confirmed by FISH analyses. Microarray CGH provided accurate information on the breakpoint regions and the size of both distal 9p deletion and distal 17q trisomy. The fetus was therefore a carrier of a de novo derivative chromosome 9 arising from a t(9;17)(p24.3;q24.3) translocation and generating a monosomy 9p24.3-pter and a trisomy 17q24.3-qter. Conclusion This case illustrates that microarray CGH is a rapid, powerful and sensitive technology to identify small de novo unbalanced chromosomal abnormalities and can be applied in prenatal diagnosis. Copyright © 2006 John Wiley & Sons, Ltd. [source] Prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangementsPRENATAL DIAGNOSIS, Issue 2 2006Chih-Ping Chen Abstract Objectives To present the prenatal diagnosis of a de novo complex chromosomal rearrangement (CCR) associated with de novo interstitial deletions and duplication and to review the literature. Case and Methods Amniocentesis was performed at 18 weeks' gestation because of an increased risk for Down syndrome based on maternal serum ,-fetoprotein and human chorionic gonadotrophin screening. Amniocentesis revealed a karyotype of 46,XY,t(2;18;14)(q33.1;q12.2;q31.2),dup(5)(q34q34),del(7)(p21.1p21.1), del(10)(q25.3q25.3). The parental karyotypes were normal. The pregnancy was terminated. The fetus manifested facial dysmorphism, clinodactyly of both hands, and hypoplasia of the left great toe. Spectral karyotyping (SKY), cytogenetic polymorphism, and polymorphic DNA markers were used to investigate the imbalances and the origin of the de novo aberrant chromosomes. Results SKY showed a three-way CCR. Cytogenetic polymorphism investigation of the derivative chromosome 14 of the fetus and the parental chromosomes 14 determined the maternal origin of the translocation. Polymorphic DNA marker analysis confirmed the maternal origin of the de novo interstitial deletions and duplication. No cryptic imbalance at or near the breakpoints of the CCR was detected by the molecular analysis. Conclusions De novo apparently balanced CCRs may be associated with imbalances in other chromosomes. We suggest further investigation and re-evaluation of cryptic or subtle imbalances in all cases classified as de novo apparently balanced CCRs. Copyright © 2006 John Wiley & Sons, Ltd. [source] Prenatal diagnosis of jumping translocation involving chromosome 22 with ultrasonographic findingsPRENATAL DIAGNOSIS, Issue 11 2005Halil Aslan Abstract We report on the prenatal diagnosis and ultrasonographic findings of a second-trimester fetus with jumping translocation involving chromosome 22. A 28-year-old gravida 2, partus 1, Turkish woman was referred for genetic counselling and ultrasonographic examination at 18 weeks' gestation because of a high risk of trisomy 21 in triple test. Prenatal ultrasonography showed tetralogy of Fallot with a diverticular dilatation of the pulmonary artery, flattened brow, complete absence of the right upper limb, hypospadias, oligodactyly (three digits) in left hand and in both feet, and hyperechogenic abdominal foci. Amniocentesis revealed a karyotype of 46,XY[4]/46,XY,,8,+ der(8),t(8;22)(q24.3;q11.21)[2]/45, XY,,22,,8,+ der(8)t(8;22)(q24.3;q11.21)[22]/45,XY,,22,,5,+ der(5)t(5;22)(q35.3;q11.21)[44]. A C-banding and FISH study with a specific centromeric probe (D14Z1/D22Z1) for chromosome 22 was made. In our case, partial monosomy for the regions 22q11.21,22pter, 8q24.3,8qter and 5q35.3,5qter may partially explain the fetal malformations. Copyright © 2005 John Wiley & Sons, Ltd. [source] Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3,qter) and partial trisomy 18q (18q23,qter) in a fetus associated with cystic hygroma and ambiguous genitaliaPRENATAL DIAGNOSIS, Issue 6 2005Chih-Ping Chen Abstract Objectives To present the prenatal diagnosis and molecular cytogenetic analysis of a fetus with nuchal cystic hygroma and ambiguous genitalia. Case and Methods Amniocentesis was performed at 16 weeks' gestation because of the abnormal fetal sonographic finding of a large septated nuchal cystic hygroma. Genetic amniocentesis revealed a terminal deletion in the long arm of chromosome 10. The paternal karyotype was subsequently found to be 46,XY,t(10;18)(q25.3;q23). The maternal karyotype was normal. The pregnancy was terminated. A hydropic fetus was delivered with a septated nuchal cystic hygroma and ambiguous genitalia. Fluorescence in situ hybridization (FISH), microarray-based comparative genomic hybridization (CGH), and polymorphic DNA markers were used to investigate the involved chromosomal segments. Results FISH study showed absence of the 10q telomeric probe and presence of the 18q telomeric probe in the derivative chromosome 10. Microarray-based CGH analysis showed loss of distal 10q and gain of distal 18q. Polymorphic DNA marker analysis determined the breakpoints. The fetal karyotype was 46,XY,der(10)t(10;18)(q25.3;q23)pat. The chromosome aberration resulted in partial monosomy 10q (10q25.3,qter) and partial trisomy 18q (18q23,qter). Conclusions The present case provides evidence that partial monosomy 10q (10q25.3,qter) with partial trisomy 18q (18q23,qter) can be a genetic cause of fetal cystic hygroma and ambiguous genitalia. Cytogenetic analysis for prenatally detected structural abnormalities may detect unexpected inherited chromosome aberrations. Copyright © 2005 John Wiley & Sons, Ltd. [source] Possible human chimera detected prenatally after in vitro fertilization: a case reportPRENATAL DIAGNOSIS, Issue 11 2003B. Simon-Bouy Abstract Background Chimerism is the coexistence of more than one cell line in an individual, due to the fusion of originally separate zygotes. It has been very rarely described in humans. Methods A 36-year-old woman who was referred for in vitro fertilization (IVF) for unexplained infertility had three embryos transferred. Results Four weeks and five days after the transfer, ultrasound examination detected a single fetus in the uterus. Ultrasound examination at 17 weeks for metrorrhagia showed severe intrauterine growth retardation. Amniocentesis revealed a mixture of 46,XY and 46,XX clones. Histopathologic examination showed a dysmorphic fetus with female phenotype and severe growth retardation. Conclusions Although demonstration by fingerprinting has not been possible, fusion of two of the three transferred embryos (one male and one female) seems to be the most probable mechanism that could explain both cytogenetic and histopathologic observations. No chimera has yet been described after IVF. It would be interesting to collect any such observations from other IVF centers. Copyright © 2003 John Wiley & Sons, Ltd. [source] Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniquesPRENATAL DIAGNOSIS, Issue 9 2003J. M. de Pater Abstract Objective This study aimed to identify a marker chromosome and characterize the short arm of a derivative chromosome 5 in a foetus with the following karyotype: mos 47,XX,del(5)(p?),+i(5)(p10)[50]/48,XX,del(5)(p?),+i(5)(p10),+mar[25]. Method Amniocentesis was performed in the 26th week of pregnancy because of ultrasound abnormalities (polyhydramnion and decreased amount of gastric filling). All classic banding techniques were performed. FISH and microdissection combined with reverse painting were used to reveal the exact origin of the marker and any extra material on the deleted chromosome 5p. The parents decided to continue the pregnancy and we compared the clinical features of the child born in week 34 with data from the literature on trisomy 5p. The possible contribution of trisomy of the centromeric region of chromosome 8 and trisomy 8p23.3,8pter to this clinical picture was evaluated. Results GTG banding showed one normal and two aberrant chromosomes 5 [del(5)(p?) and i(5)(p10)] in all the cells examined. Furthermore, a supernumerary marker chromosome was present in approximately 30% of the cells. The marker was CBG positive and positive with the pancentromere probe, but dystamicinA/DAPI negative. It did not contain NOR-positive satellites. FISH proved this marker to be derived from the centromeric region of chromosome 8. MicroFISH disclosed the aberrant chromosome 5 as der(5)t(5;8)(p10;p23.3). The parent's karyotypes were normal. The baby showed the characteristic features of trisomy 5p syndrome. She died at the age of 15 days after cardiorespiratory arrest. Conclusion The karyotype was interpreted as mos 47,XX,add(5)(p10).rev ish der(5)t(5;8)(p10;p23.3),+i(5)(p10) (WCP5+,D5S23+)[50]/48,XX,add(5)(p10).rev ish der(5)t(5;8)(p10;p23.3),+i(5)(p10)(WCP5+,D5S23+),+mar.ish 8(p10q10)(D8Z2+,WCP8-)[25]. Therefore, the baby had complete trisomy 5p, with trisomy of the distal part of 8p and of the centromeric region of chromosome 8. The clinical significance of de novo marker chromosomes is a major problem in prenatal counselling. Molecular cytogenetic tools such as FISH and microFISH are indispensable for characterizing markers and determining the breakpoints more precisely in deleted chromosomes. Copyright © 2003 John Wiley & Sons, Ltd. [source] A further case of confined placental mosaicism for trisomy 2 associated with adverse pregnancy outcomePRENATAL DIAGNOSIS, Issue 7 2003Eileen Roberts Abstract Objectives To add to the knowledge base concerning confined placental mosaicism for trisomy 2. Methods Cytogenetic study of a late CVS referred for hyperechogenic bowel and raised AFP, and cytogenetic and molecular genetic study of a follow-up amniocentesis. Ultrasound monitoring at regular intervals following the CVS result. Results All cells examined from direct and cultured CVS showed a 47,XY,+2 karyotype. Amniocentesis showed a mosaic 47,XY,+2[8]/46,XY[81] karyotype. Uniparental disomy (UPD) studies on the amniotic fluid showed normal biparental inheritance. The pregnancy developed oligohydramnios and IUGR and resulted in a 26-week liveborn male infant with a 46,XY karyotype, which died after 3 days because of complications of severe prematurity. Placental villi post delivery showed only the 47,XY,+2 cell line. Conclusions This case represents a further example of confined placental mosaicism (CPM) for trisomy 2 associated with oligohydramnios, IUGR and poor pregnancy outcome. Copyright © 2003 John Wiley & Sons, Ltd. [source] Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restrictionPRENATAL DIAGNOSIS, Issue 1 2003Chih-Ping Chen Abstract Objectives To present the prenatal diagnosis and perinatal findings of mosaic ring chromosome 22. Case Amniocentesis was performed at 18 gestational weeks because of an advanced maternal age. Cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 22, 45,XX,-22[6]/46,XX,r(22)(p13q13.31)[15]. Abnormal fetal sonographic findings included small for gestational age, a ventricular septal defect, and truncus arteriosus. The pregnancy was terminated. Additional phenotypic findings included hypertelorism, epicanthal folds, and abnormal ears. Cytogenetic analysis of the cord blood lymphocytes revealed a complex mosaic karyotype, 45,XX,-22[7]/46,XX,r(22)(p13q13.31)[82]/46,XX,idic r(22)(p13q13.31;p13q13.31)[11]. Cytogenetic analysis of the hepatocytes also revealed mosaic r(22) with mosaicism for idic r(22) and monosomy 22. The deletion of distal 22q and the duplication of 22q11.2 on idic r(22), and the distal 22q deletion on r(22) were demonstrated by fluorescent in situ hybridization (FISH) analysis using 22q terminal probes at 22q13 and a DiGeorge syndrome critical region probe at 22q11.2. The breakpoint on distal 22q13 and the extent of the duplication of 22q on idic r(22) was determined by examining polymorphic markers specific for chromosome 22 using quantitative fluorescent polymerase chain reaction assays. The chromosomal aberration was of maternal origin. Conclusion Molecular and FISH studies allow a better delineation of some prenatally detected aneuploidy syndromes and help elucidate the genetic pathogenesis. Fetuses having mosaic r(22) with a low level mosaicism for r(22) duplication/deletion may present cardiovascular abnormalities and intrauterine growth restriction on prenatal ultrasound. Copyright © 2002 John Wiley & Sons, Ltd. [source] Prenatal diagnosis of the Dandy-Walker malformation and ventriculomegaly associated with partial trisomy 9p and distal 12p deletionPRENATAL DIAGNOSIS, Issue 12 2002Chih-Ping Chen Abstract Objectives To present the prenatal diagnosis and perinatal findings of partial trisomy 9p and distal 12p deletion. Methods and results Amniocentesis was performed at 17 gestational weeks due to a balanced reciprocal translocation t(9;12)(p11.2;p13.3) in the mother. The father's karyotype was normal. The family had a 5-year-old daughter with a Dandy-Walker malformation and a trisomy 9p syndrome. Cytogenetic analysis of the cultured amniotic fluid cells revealed a 46,XY,der(12)t(9;12)(p11.2;p13.3)mat karyotype with partial monosomy 12p(12pter,p13.3) and partial trisomy 9p(9pter,p11.2). Sonographic examination of the fetal brain and skull showed bilateral ventriculomegaly, brachycephaly and a Dandy-Walker malformation with an enlarged cisterna magna and absence of the cerebellar vermis. The pregnancy was terminated subsequently. At autopsy, the proband manifested agenesis of the cerebellar vermis and a typical trisomy 9p phenotype. Conclusion Fetuses with partial trisomy 9p(9pter,p11.2) may present a Dandy-Walker malformation and ventriculomegaly on prenatal ultrasound in the second trimester. A dosage effect of genes located on 9pter,p11.2 may be associated with the abnormal development of the central nervous system in patients with partial or complete trisomy 9. Copyright © 2002 John Wiley & Sons, Ltd. [source] Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restrictionPRENATAL DIAGNOSIS, Issue 5 2001Dena R. Towner Abstract A case of confined placental mosaicism (CPM) and maternal uniparental isodisomy 14 identified after placental karyotype revealed trisomy 14 in a newborn with intrauterine growth restriction (IUGR) and minor dysmorphic features is reported. During the second trimester of the pregnancy, multiple marker screening revealed an increased risk for Down syndrome of >1 in 10. The maternal serum human chorionic gonadotrophin (MShCG) was markedly elevated at 4.19,MoM. Amniocentesis revealed a normal 46,XX karyotype. Fetal growth restriction has been associated with elevated MShCG and placental aneuploidy with CPM for chromosomes 2, 7, 9 and 16. The present case of CPM for chromosome 14 was also associated with fetal growth restriction and elevated second trimester MShCG, suggesting a common link. Further studies need to be done to determine if indeed elevation of second trimester MShCG is associated with increased risk of CPM. The present case again demonstrates the need to perform placental karyotype in unexplained fetal growth restriction. Copyright © 2001 John Wiley & Sons, Ltd. [source] Patterns of chromosomal deletions identified by a birth defects registry, Hawaii, 1986,2003CONGENITAL ANOMALIES, Issue 2 2007Mathias B. Forrester ABSTRACT The aim of the investigation was to describe the chromosomal deletions identified by a birth defects registry with respect to the chromosomes involved, pregnancy outcome, method of diagnosis, inheritance, sex, and the diagnosis of major structural birth defects. Cases were derived from a population-based birth defects registry in Hawaii and comprised all infants and fetuses with chromosomal deletions delivered during 1986,2003. A total of 71 cases were identified through a statewide birth defects registry in Hawaii during 1986,2003. The chromosomes involved in the greatest proportion of deletions were chromosomes 22 (14.1%), 4 (11.3%), and 5 (11.3%). Live births accounted for 58 (81.7%) of the cases. Diagnosis was made by amniocentesis or chorionic villus sampling in 19 (26.8%) of the cases. Of the 18 cases with known inheritance, the deletion was inherited in 5 (27.8%) and de novo in 13 (72.2%). Males accounted for 28 (39.4%) and females for 43 (60.6%) of the cases. Major structural birth defects were identified in 51 (71.8%) of the cases. Chromosomal deletions do not appear to affect all chromosomes equally. Most of the chromosomal deletions that were detected occurred among live births and were de novo conditions. Infants and fetuses with chromosomal deletions are more likely to be females and to be associated with major structural birth defects. [source] Timing of early amniocentesis as a function of membrane fusionJOURNAL OF CLINICAL ULTRASOUND, Issue 1 2004Michael G. Pinette MD Abstract Purpose The purpose of this prospective study was to evaluate sonographically the timing of membrane fusion and to determine its possible effect on the timing of amniocentesis. Methods Between May 18, 1998, and January 31, 2002, the status of amnion fusion in pregnant patients at 9,15 weeks' menstrual age was identified in women who were to undergo obstetric sonography. Amniocentesis was performed if even a small area of fused membranes that could be traversed was identified; if the membranes were completely unfused, amniocentesis was delayed. The effect of membrane fusion in terms of the need to reschedule amniocentesis was evaluated. Results We examined a total of 594 patients. Membrane fusion occurred progressively with increasing menstrual age. One hundred six early amniocenteses were scheduled, and 70 were performed; the others were delayed because the membranes were unfused. Our requirement that an area of membrane fusion be found before we would perform amniocentesis resulted in rescheduling the procedure 24,38% of the time. Conclusions Membrane fusion, as seen sonographically, is a function of menstrual age. Even by 15 weeks, a portion of the amnion may be unfused with the chorion. Amniocenteses scheduled for early in the pregnancy may need to be delayed until later, when the membranes are at least partially fused, allowing safe passage of a needle. Delaying the procedure may incur higher expense but may be important in terms of lessening the risk involved. © 2003 Wiley Periodicals, Inc. J Clin Ultrasound 32:8,11, 2004 [source] First-trimester Down syndrome screening in women younger than 35 years old and cost-effectiveness analysis in Taiwan populationJOURNAL OF EVALUATION IN CLINICAL PRACTICE, Issue 5 2009Ching-Yu Chou MD Summary Objectives, Outcome of the first-trimester Down syndrome screening in younger population was less reported before. We present the outcome of this screening in Taiwanese women younger than 35 years old. We also test whether or not the first-trimester Down syndrome screening of women <35 years of age and women >35 years old routinely receiving amniocentesis is cost-effective compared with all pregnant women screened with this test in the setting of increased maternal age. Methods, From 1999 to 2007, the first-trimester Down syndrome screening including nuchal thickness, pregnancy-associated plasma protein A and free ,-hCG are provided to 10 811 singleton women <35 years of age with the cut-off of 1/270. A cost-effectiveness analysis of young women receiving this screening and older women undergo amniocentesis versus all women undergo this screening was performed in Taiwan population from 1987 to 2006, in which advanced age pregnancies increased from 2.8% to 11.6% of total pregnancies. Results, Detection rates of trisomy 21, trisomy 18, Turner syndrome and other chromosome anormalies in women <35 years of age are 87.5% (14/16), 50% (2/4), 80% (8/10) and 63% (12/19), respectively, with a false-positive rate of 5.5% (590/10 811). As advanced age pregnancies reached 11.6%, the average cost per one case averted for all women screened ranged from $77 204 to $98 421, while the cost ranged from $99 647 to $116 433 for only women <35 years of age receiving this screening. Conclusions, In an aging population, the first-trimester Down syndrome screening should be implemented for all pregnant women when it is available. [source] Cost-effectiveness analysis of triple test in second-trimester maternal serum screening for Down's syndrome: an experience from Taiwan with decreasing birth rate but increasing population of old pregnant womenJOURNAL OF EVALUATION IN CLINICAL PRACTICE, Issue 2 2008Hsiao-Lin Hwa PhD Objectives, We intended to assess the cost-effectiveness of adding unconjugated oestriol (uE3) in maternal serum screening for Down's syndrome in Taiwan, where there is a decreasing birth rate but an increasing trend of old women having pregnancies. Methods, We used logistic regressions to estimate the risk of Down's syndrome with maternal age and different combinations of biomarkers. Cost-effectiveness analysis was presented in terms of the average and incremental cost-effectiveness ratios. Sensitivity analyses with different parameters were performed. Results, Given a cut-off point of 1:270 for the confirmation of Down's syndrome with amniocentesis, the average cost per case averted for maternal age above 35 years only, double test [alpha-fetoprotein (AFP) and human chorionic gonadotrophin (hCG)] and triple test (AFP, hCG and uE3) were estimated as $14 561, $42 367 and $37 424. The additional costs per case averted for double test and triple test (compared with maternal age above 35 years) were $135 950 and $77 394, respectively. The additional cost per case averted for triple test was $15 199 compared with double test. Conclusions, The performance of triple test is not only more effective in detecting Down's syndrome cases but also more cost-effective than double test in this study. [source] Literature Review and suggested protocol for managing ultrasound soft markers for Down syndrome: Thickened nuchal fold, echogenic bowel, shortened femur, shortened humerus, pyelectasis and absent or hypoplastic nasal boneJOURNAL OF MEDICAL IMAGING AND RADIATION ONCOLOGY, Issue 3 2007Article first published online: 10 MAY 200, M Bethune Summary Mid-trimester soft markers have been linked with Down syndrome and other aneuploidies. There are many other prenatal screening tests available with better detection rates for Down syndrome than the mid-trimester ultrasound. Many patients confronted with the diagnosis of a soft marker become anxious and may request a diagnostic test (amniocentesis) despite the associated risk of miscarriage. This is also despite the fact that most fetuses with an isolated soft marker are chromosomally normal. The management of a pregnancy with a soft marker must therefore be planned in a manner designed to minimize patient anxiety. Likelihood ratios can be used to modify a patient's ,prior risk' (based on age or prior screening tests) and create a new risk. This calculation may help identify a subset of patients suitable for further investigation. It has been proposed that ,negative' likelihood ratios can be used to reduce a patient's risk if no soft marker is found at a mid-trimester ultrasound. There remain concerns about this approach and further research is required before this approach enters common practice. The published work surrounding the management of thickened nuchal fold, echogenic bowel, shortened femur, shortened humerus, pyelectasis (renal pelvis dilatation) and hypoplastic nasal bone is reviewed. Each soft marker has different associations and individual management plans for each of these soft markers are presented. Although isolated single umbilical artery is not usually considered a soft marker of aneuploidy, a management plan for this common finding is also included. [source] Human herpesvirus-8 infection in pregnancy and labor: Lack of evidence of vertical transmissionJOURNAL OF MEDICAL VIROLOGY, Issue 3 2004Loredana Sarmati Abstract To investigate whether vertical transmission of the human herpesvirus 8 (HHV-8) may occur during pregnancy or at delivery, we enrolled 295 women recruited attending the Division of Obstetrics and Gynecology of a University Teaching of Rome Tor Vergata, S. Eugenio Hospital. The study population was divided in two groups: 245 pregnant women who underwent amniocentesis for genetic screening at 16,18 weeks gestation (group 1) and 50 women at the childbirth (group 2). Maternal blood was obtained from all women. Amniotic fluid (group 1) and cord blood (group 2) were obtained at midtrimester and at delivery, respectively. The presence of anti-HHV-8 antibodies in serum samples was investigated by an immunfluorescence assay. All amniotic fluids, maternal blood, and cord blood samples from HHV-8 seropositive women were tested for the presence of HHV-8 DNA sequences by the polymerase chain reaction. Thirty women, 27 of the group 1 and three of the group 2, were found to have anti-HHV-8 antibodies. Two neonates of the three seropositive mothers of the group 2 had anti-HHV-8 antibodies in cord blood. HHV-8 DNA sequences were detected in the blood of one woman of the group 2. None of the amniotic fluid and cord blood samples had detectable HHV-8 DNA sequences. This study suggests that vertical transmission of HHV-8 is unlikely or, at least, very rare. J. Med. Virol. 72:462,466, 2004. © 2004 Wiley-Liss, Inc. [source] Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissuesJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 5 2010Vincenzo Mazza Abstract We report on the case of a patient with mosaic trisomy 22, who was diagnosed prenatally by amniocentesis during the 16th week of pregnancy. In the foetus, three trisomic clones were found out of the nine that were analyzed (the other six clones had a 46,XY karyotype). Cytogenetic analysis of cord blood during the 20th week of pregnancy showed a normal male karyotype; however, a placental biopsy that was performed at the same time showed 100% and 95% trisomic cells in the chromosomal analysis of direct and long-term cultures, respectively. A follow-up ultrasonographic examination excluded major congenital malformations and the abdominal and cranial circumferences were normal until the 24th week of pregnancy. At this point, a deflection of the growth curve occurred and the values were persistently below the 3rd centile until birth. After birth, karyotypic and fluorescent in situ hybridisation analyses performed on the fibroblasts of the neonate showed that 3,4% of the cell lines were trisomic, and studies using microsatellite markers showed normal allelic segregation, which excluded uniparental disomy. The period of postnatal follow-up was characterised by a significant growth deficit (height and head circumference were less than the 3rd centile) and by mental retardation. The present case is compatible with other earlier reports that showed that the levels of trisomy 22 are tissue-specific and are of little help in establishing the prognosis of the chromosomal abnormality. [source] Fetal nasal bone length and Down syndrome during the second trimester in a Chinese populationJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 4 2008Jeng-Hsiu Hung Abstract Objective:, The purpose of the present study was to build a database of reference ranges of fetal nasal bone length (NBL) in a Chinese population. The accuracy rate of detecting Down syndrome was also analyzed using fetal NBL as a marker. Methods:, The control group of fetuses included 342 normal singleton pregnancies with no chromosomal or congenital anomalies. The present study was a cross-section study and the control group was used to construct percentile values of NBL from 13 to 29 gestational weeks of age. Two-dimensional ultrasonography was used for the nasal bone studies. Measurements of NBL were collected and each fetus contributed a single value to the reference sample. During the study period, 14 fetuses with Down syndrome were examined. Measurement of fetal NBL was made during amniocentesis, with gestational age ranging from 13 to 19 weeks. Results:, From 342 normal fetuses with gestational age ranging from 13 to 29 weeks, reference ranges of NBL were constructed. The reference ranges were constructed from the 100(1 , p)% reference range: , where , = 25 , exp(3.58 , 0.044 × t + 0.0006 × t2), with , being the fitted mean of regression model and t being gestational age (weeks). Using fetal NBL, the regression model was Pr(Down syndrome) = exp(W)/[1 + exp(W)], where W = 0.62,4.80 × NBL (multiples of the median) in predicting Down syndrome. Fetal NBL was found to have a sensitivity and specificity of 0.78 and 0.78, respectively, in predicting Down syndrome in the second trimester of pregnancy. Conclusions:, Fetal NBL measurement can provide a simple and useful algorithm to predict Down syndrome during the second trimester of pregnancy. [source] Recent advances in non-invasive prenatal DNA diagnosis through analysis of maternal bloodJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 6 2007Akihiko Sekizawa Abstract Prenatal diagnosis of aneuploidy and single-gene disorders is usually performed by collecting fetal samples through amniocentesis or chorionic villus sampling. However, these invasive procedures are associated with some degree of risk to the fetus and/or mother. Therefore, in recent years, considerable effort has been made to develop non-invasive prenatal diagnostic procedures. One potential non-invasive approach involves analysis of cell-free fetal DNA in maternal plasma or serum. Another approach utilizes fetal cells within the maternal circulation as a source of fetal DNA. At the present time, fetal gender and fetal RhD blood type within RhD-negative pregnant women can be reliably determined through analysis of maternal plasma. Furthermore, genetic alterations can be diagnosed in the maternal plasma when the mother does not have the alterations. However, the diagnosis of maternally inherited genetic disease and aneuploidy is limited using this approach. Non-invasive prenatal diagnosis through examination of intact fetal cells circulating within maternal blood can be used to diagnose a full range of genetic disorders. Since only a limited number of fetal cells circulate within maternal blood, procedures to enrich the cells and enable single cell analysis with high sensitivity are required. Recently, separation methods, including a lectin-based method and autoimage analyzing, have been developed, which have improved the sensitivity of genetic analysis. This progress has supported the possibility of non-invasive prenatal diagnosis of genetic disorders. In the present article, we discuss recent advances in the field of non-invasive prenatal diagnosis. [source] Hemangioma in the newborn: increased incidence after chorionic villus samplingPRENATAL DIAGNOSIS, Issue 10 2010Constantijn G. Bauland Abstract Objectives This study was designed to compare the effects of transcervical chorionic villus sampling (CVS) and amniocentesis on the prevalence of hemangiomas of infancy. Methods This is a cohort study of 250 consecutive assessable transabdominal amniocentesis procedures and 250 consecutive assessable transcervical CVS procedures performed between January and September 2002. Parents were asked to fill out a questionnaire regarding the presence of any type of skin lesions. Based on the responses to the questionnaire, children were invited to undergo a physical examination to confirm hemangiomas. Results Questionnaires were returned in 78% of the CVS group (195/250) and in 72% of the amniocentesis group (180/250). Based on the responses in the questionnaire, 78 children in the CVS group and 42 in the amniocentesis group underwent a physical examination. One or more hemangiomas were present in 53 of 195 (27.2%) children in the CVS group versus 17 of 180 (9.4%) children in the amniocentesis group (odds ratio 3.6, 95% CI: 2.0,6.5). There was no difference in congenital abnormalities between the two groups. Conclusion Transcervical CVS is associated with a significantly increased prevalence of hemangiomas compared with amniocentesis. The clinical features of these hemangiomas do not differ from natural hemangiomas and complications of these hemangiomas are very rare. Copyright © 2010 John Wiley & Sons, Ltd. [source] Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalancesPRENATAL DIAGNOSIS, Issue 10 2010S. Kjaergaard Abstract Objective The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader,Willi/Angelman, Miller,Dieker, Smith,Magenis, 1p-, Williams), the reciprocal microduplication syndromes and imbalance at the subtelomere regions of chromosomes in a routine prenatal setting. Method A total of 530 prenatal samples were analysed by commercial MLPA kits (SALSA P064, P036 and P069) in addition to rapid aneuploidy testing and G-band karyotyping. Results Among the prenatal samples with a normal metaphase karyotype, nine submicroscopic imbalances were detected: seven 22q11 deletions (Velocardiofacial/DiGeorge syndrome), one 15q11deletion (Prader,Willi syndrome) and one terminal deletion of the short arm of chromosome 4 (Wolf,Hirschhorn syndrome). All imbalances were found in amniocentesis (AC) taken due to fetal structural malformation and/or other ultrasound scan (US) detected abnormality. The diagnostic yield was 4.1% in the subgroup with structural malformation and 1.6% in the subgroup with other US abnormality. Conclusion The data set substantiates that additional MLPA analyses for selected microdeletions and subtelomere imbalances are valuable in routine prenatal diagnostics, when a malformation(s) and/or other abnormalities are detected by US. In contrast, the additional MLPA analyses gave no diagnostic yield in case of increased nuchal translucency (NT). Copyright © 2010 John Wiley & Sons, Ltd. [source] Management of red cell alloimmunisation in pregnancy: the non-invasive monitoring of the diseasePRENATAL DIAGNOSIS, Issue 7 2010Sebastian Illanes Abstract Haemolytic disease of the fetus and newborn (HDFN) due to red cell alloimmunization was a significant cause of fetal and neonatal morbidity and mortality until the introduction of anti-D immunoglobulin, which has dramatically changed the incidence of the disease. However, it is still a major problem in affected pregnancies. The emphasis of current clinical management has shifted from an invasive approach to non-invasive monitoring of the disease. The key elements of the modern management are determining which fetuses are at risk of HDFN with the use of cell-free fetal DNA in maternal plasma (fetal RHD genotype) and the follow-up of antigen positive fetuses by Doppler ultrasonography to detect anaemia severe enough to need treatment. When anaemia is suspected, an invasive approach is still required in a timely manner for confirmation of the degree of anaemia and to administer blood transfusions. This non-invasive approach prevents unnecessary administration of human-derived blood products, with the consequent ethical and cost implications and most importantly avoids iatrogenic conversion of mild to severe disease by avoiding need for techniques such as amniocentesis. The potential problem of the non-invasive approach is the reduction in the total number of invasive procedures, with the subsequent difficulty of maintaining the skills required to perform them. Copyright © 2010 John Wiley & Sons, Ltd. [source] MFM/geneticist view on prenatal management of twins,AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 2 2009Barbara M. O'Brien Abstract Twin pregnancies are associated with an increase in both fetal and maternal morbidity and mortality. Health care supervision is complex, increasingly requiring care from maternal-fetal medicine specialists. This review discusses optimal twin prenatal management, which includes recognizing increased twin pregnancy risks specific to twin-types; counseling families regarding fetal complications, ranging from prematurity to cerebral palsy; screening for aneuploidy and open neural tube defects; specific twin guidelines for diagnostic testing, including chorionic villus sampling and amniocentesis; and monitoring for maternal complications. © 2009 Wiley-Liss, Inc. [source] Trends in prenatal screening and diagnostic testing among women referred for advanced maternal agePRENATAL DIAGNOSIS, Issue 3 2010Naomi Nakata Abstract Objective We evaluated the trends in uptake of amniocentesis and chorionic villi sampling (CVS) for prenatal diagnosis compared with uptake of first and second trimester prenatal serum screening for Down syndrome among patients referred for genetic counseling for advanced maternal age (AMA). Methods Patients referred for AMA genetic counseling from 2001 through 2008 were informed of both prenatal serum screening and invasive diagnostic testing options. Testing offered and testing decisions were entered in a computer database and uptake rates calculated for each year with trends compared using logistic regression analysis. Results From 2001 through 2007, we observed a decline in amniocentesis and CVS uptake (p = 0.0001). This trend reversed in 2008 for both invasive procedures (p = 0.0001). Uptake of prenatal serum screening increased over the study period with uptake of first trimester screening increasing 1.7 fold in 2008. Conclusion Improved prenatal screening tests and increased availability of screening for AMA patients has led to a steady decline in uptake of invasive testing from 2001 through 2007. This trend reversed from 2007 through 2008. Possible reasons for this reversal are discussed. Copyright © 2010 John Wiley & Sons, Ltd. [source] Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospectsPRENATAL DIAGNOSIS, Issue 2 2009Geoff Daniels Abstract Fetuses of women with alloantibodies to RhD (D) are at risk from hemolytic disease of the fetus and newborn, but only if the fetal red cells are D-positive. In such pregnancies, it is beneficial to determine fetal D type, as this will affect the management of the pregnancy. It is possible to predict, with a high level of accuracy, fetal blood group phenotypes from genotyping tests on fetal DNA. The best source is the small quantity of fetal DNA in the blood of pregnant women, as this avoids the requirement for invasive procedures of amniocentesis or chorionic villus sampling (CVS). Many laboratories worldwide now provide noninvasive fetal D genotyping as a routine service for alloimmunized women, and some also test for c, E, C and K. In many countries, anti-D immunoglobulin injections are offered to D-negative pregnant women, to reduce the chances of prenatal immunization, even though up to 40% of these women will have a D-negative fetus. High-throughput, noninvasive fetal D genotyping technologies are being developed so that unnecessary treatment of pregnant women can be avoided. Trials suggest that fetal D typing of all D-negative pregnant women is feasible and should become common practice in the near future. Copyright © 2008 John Wiley & Sons, Ltd. [source] Second trimester amniotic fluid annexin A5 levels and subsequent development of intrauterine growth restrictionPRENATAL DIAGNOSIS, Issue 10 2008Ozgur Dundar Abstract Objective The purpose of this study was to investigate the levels of annexin A5 in second trimester amniotic fluid, and evaluate its correlation with subsequent development of intrauterine growth restriction (IUGR). Method A total of 264 women undergoing mid-trimester amniocentesis between January 2007 and December 2007 were enrolled for the study. Amniocentesis was performed for routine indications. After delivery, outcome data were obtained. Results Maternal age, frequency of nulliparity, fetal sex and gestational week at amniocentesis were similar between groups. As expected, prevalence of smoking was higher in IUGR developing mothers. Significant positive correlations were present between annexin A5 levels and gestational age at amniocentesis (P = 0.02) and maternal age (P = 0.01). Linear regression analysis revealed that annexin A5 levels were positively correlated with patient's age. Smoking women had significantly lower annexin A5 levels in the mid-trimester amniotic fluid (9.9 ± 2.3 and 10.7 ± 1.3 ng/mL, P = 0.01). Logistic regression analysis demonstrated that after controlling for gestational age at amniocentesis, smoking, maternal age, and maternal hypertension, annexin A5 was not significantly associated with IUGR (P = 0.07). Conclusion Amniotic fluid annexin A5 levels in the mid-trimester are not associated with IUGR at birth after controlling for maternal smoking and other confounders. Copyright © 2008 John Wiley & Sons, Ltd. [source] | |||||||||||||