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Showing papers on "Amniocentesis published in 2006"


Journal ArticleDOI
TL;DR: Intravenous treatment with CMV-specific hyperimmune globulin is safe and may be effective both in preventing congenital infection and treating established infection.
Abstract: Approximately 1 % of all newborn infants reportedly have congenital cytomegalovirus (CMV) infection. The disorder is symptomatic in approximately one in 10 infants, and clinically significant neurologic sequelae develop in nearly half of them. Neurologic defects eventually develop in as many as 13% of newborn infants who lack symptoms. This prospective study evaluated hyperimmune globulin for treating or preventing fetal CMV infection. Participants were pregnant women with primary CMV infection. Women with primary infection for longer than 6 weeks were offered amniocentesis and treatment with 200 U/kg of intravenous hyperimmune globulin if CMV DNA was identified in amniotic fluid. If necessary, subsequent doses of 400 U/kg were given intravenously or into the umbilical cord or amniotic fluid. Women who declined amniocentesis were offered preventive treatment (100 U/kg of hyperimmune globulin per month). Untreated women served as control subjects. Of women with documented fetal infection, only one of 31 given hyperimmune globulin delivered an infant with CMV disease compared with 7 of 14 untreated women. On logistic regression analysis, treatment significantly lowered the risk of congenital disease. For prevention of fetal infection, 37 women received monthly infusions of hyperimmune globulin 2 to 11 weeks after presumed maternal seroconversion. Of these, 6 (16%) delivered an infected infant compared with 19 of 47 (40%) of untreated women. Treatment was the only factor that predicted a significant reduction in the risk of congenital infection. Treatment, whether therapeutic or preventive, correlated significantly with increased titers of CMV-specific immunoglobulin G. The percentage of total natural killer cells was significantly less in women receiving hyperimmune globulin. No adverse events were observed. Intravenous treatment with CMV-specific hyperimmune globulin is safe and may be effective both in preventing congenital infection and treating established infection.

297 citations


Journal ArticleDOI
TL;DR: Doppler measurement of the peak velocity of systolic blood flow in the middle cerebral artery can safely replace invasive testing in the management of Rh-alloimmunized pregnancies.
Abstract: Background Pregnancies complicated by Rh alloimmunization have been evaluated with the use of serial invasive amniocentesis to determine bilirubin levels by measuring in the amniotic fluid the change in optical density at a wavelength of 450 nm (ΔOD450); however, this procedure carries risks. Noninvasive Doppler ultrasonographic measurement of the peak velocity of systolic blood flow in the middle cerebral artery also predicts severe fetal anemia, but this test has not been rigorously evaluated in comparison with amniotic-fluid ΔOD450. Methods We performed a prospective, international, multicenter study including women with RhD-, Rhc-, RhE-, or Fya-alloimmunized pregnancies with indirect antiglobulin titers of at least 1:64 and antigen-positive fetuses to assess whether Doppler ultrasonographic measurement of the peak systolic velocity of blood flow in the middle cerebral artery was at least as sensitive and accurate as measurement of amniotic-fluid ΔOD450 for diagnosing severe fetal anemia. The results o...

228 citations


Journal ArticleDOI
TL;DR: The loss rates for both amniocentesis and CVS at the authors' institution have decreased over time and because the decrease in loss rate for CVS has been greater, there is no longer a statistically significant difference between the two.

203 citations


Journal ArticleDOI
TL;DR: Sub-clinical MIAC was detected in 9% of patients with a sonographically short cervix and maternal parenteral treatment with antibiotics can eradicate MIAC caused by Ureaplasma urealyticum, and this was associated with delivery at term in three patients whose successful treatment was documented by microbiologic studies.
Abstract: OBJECTIVE— A sonographically short cervix is a powerful predictor of spontaneous preterm delivery. However, the etiology and optimal management of a patient with a short cervix in the midtrimester of pregnancy remain uncertain. Microbial invasion of the amniotic cavity (MIAC) and intraamniotic inflammation are frequently present in patients with spontaneous preterm labor or acute cervical insufficiency. This study was conducted to determine the rate of MIAC and intra-amniotic inflammation in patients with a cervical length <25 mm in the mid-trimester. STUDY DESIGN—A retrospective cohort study was conducted of patients referred to our high risk clinic because of a sonographic short cervix or a history of a previous preterm birth. Amniocenteses were performed for the evaluation of MIAC and for karyotype analysis in patients with a short cervix. Fluid was cultured for aerobic and anaerobic bacteria, as well as genital mycoplasmas. Patients with MIAC were treated with antibiotics selected by their physician. RESULTS—Of 152 patients with a short cervix at 14–24 weeks, 57 had amniotic fluid analysis. The prevalence of MIAC was 9% (5/57). Among these patients, the rate of preterm delivery (<32 weeks) was 40% (2/5). Microorganisms isolated from amniotic fluid included Ureaplasma urealyticum (n=4) and Fusobacterium nucleatum (n=1). Patients with a positive culture for Ureaplasma urealyticum received intravenous Azithromycin. Three patients with Ureaplasma urealyticum had a sterile amniotic fluid culture after treatment, and subsequently delivered at term. The patient with Fusobacterium nucleatum developed clinical chorioamnionitis and was induced. CONCLUSION—1) Sub-clinical MIAC was detected in 9% of patients with a sonographically short cervix (<25 mm); and 2) maternal parenteral treatment with antibiotics can eradicate MIAC caused by Ureaplasma urealyticum. This was associated with delivery at term in the three patients whose successful treatment was documented by microbiologic studies.

176 citations


Journal ArticleDOI
TL;DR: The contribution of prenatal investigation and the prognosis of isolated mild ventriculomegaly (IMV) are defined and the status of these patients is evaluated.

133 citations


Journal ArticleDOI
TL;DR: To investigate the rate of pregnancy termination for various fetal aneuploidies, and to evaluate predictors of this choice.
Abstract: Objective To investigate the rate of pregnancy termination for various fetal aneuploidies, and to evaluate predictors of this choice. Methods A retrospective cohort study identified all patients with any of seven common fetal aneuploidies (trisomies 21, 18, and 13; 45,X, 47,XXX, 47,XXY, and 47,XYY) at a referral prenatal diagnosis unit from 1983 to 2003. We abstracted type of aneuploidy, time and type of diagnostic procedure, maternal age, and ethnicity as predictors of the decision to terminate. Statistical comparisons were made using the chi-square test. Potential confounding variables were controlled for using multivariate logistic regression. Results Overall, there were 833 patients who had fetuses with aneuploidy. In our study population, the overall rate of termination was 81%: 86% in cases of autosomal trisomy and 60% in cases of sex chromosome aneuploidy (SCA) (p < 0.001). Rates were lowest in cases with the least severe prognosis, 47,XYY (57%) and 47,XXX (40%) compared with 45,X (65%) and 47,XXY (70%) (p = 0.05). Patients with SCA detected by chorionic villus sampling (CVS) had a higher termination rate than those who had undergone amniocentesis (77% vs 55%, p = 0.015). Increased maternal age was associated with higher termination rates in autosomal trisomy (88% vs 76% p < 0.001) and a trend toward decreased rates in those with SCA (55% vs 71%, p = 0.06). Hispanic women were less likely to terminate pregnancy (69%, p = 0.01) than those from other racial/ethnic groups. Conclusion Type and severity of aneuploidy, type of diagnostic procedure, maternal age, and ethnicity contribute to patients' decision-making in the setting of fetal aneuploidy. Copyright © 2006 John Wiley & Sons, Ltd.

106 citations


Journal ArticleDOI
TL;DR: Fetal thymus involution in preterm labor patients is strongly associated with funisitis, which is the histologic manifestation of the fetal inflammatory response syndrome.

105 citations


Journal ArticleDOI
TL;DR: The relationship between maternal age and the risk of spontaneous fetal loss in DS pregnancies is investigated and it is found that older women are more likely to be at risk of miscarriage.
Abstract: Objectives Pregnancies affected by Down syndrome (DS) have a greater risk of spontaneous fetal loss than those that are unaffected. In this article, we investigate the relationship between maternal age and the risk of spontaneous fetal loss in DS pregnancies. Methods Fetal loss at different maternal ages were estimated by survival analysis using follow-up of 5177 prenatally diagnosed cases. The maternal age effect on loss rate was subsequently confirmed by a re-analysis of published comparisons of the maternal age-specific prevalence of DS at different gestational ages. Results The average fetal loss rate between the time of chorionic villus sampling (CVS) and term was 32% (95% CI: 26–38), increasing from 23% (95% CI: 16–31) for women aged 25 to 44% (33–56) for women aged 45. The average fetal loss rate between the time of amniocentesis and term was 25% (21–31), increasing from 19% (14–27) to 33% (26–45) across the same age range. Conclusion The fetal loss rate in DS pregnancies increases with maternal age, and this has consequences when estimating the live birth prevalence of DS in the presence of prenatal diagnosis and termination, and when assessing the performance of prenatal screening techniques. Copyright © 2006 John Wiley & Sons, Ltd.

89 citations


14 Oct 2006
TL;DR: It is suggested that one pragmatic interventional two-step approach using first-trimester combined screening followed by second trimester detailed ultrasound examination is a suitable and acceptable option for Down syndrome screening in pregnancy.
Abstract: Screening for Down syndrome using first-trimester combined screening followed by second-trimester ultrasound examination in an unselected population. American Journal of Obstetrics and Gynecology, 2006;195:1379–87.

88 citations


Journal ArticleDOI
TL;DR: Although the significance of amniotic fluid exposure remains to be determined, these results demonstrate that maternally administered antidepressants are accessible to the fetus in a manner not previously appreciated.
Abstract: Objective: The authors’ goal was to determine the concentration of antidepressants in amniotic fluid during maternal treatment of depression. Method: Women treated with antidepressants undergoing amniocentesis for obstetrical reasons were enrolled. Antidepressant concentrations in amniotic fluid and maternal serum were determined with high-performance liquid chromatography. Results: Amniotic fluid was obtained from 27 women, and the amniotic fluid’s antidepressant concentrations were highly variable. For the parent compounds, the amniotic fluid concentrations of selective serotonin uptake inhibitors averaged 11.6% (SD=9.9%) of maternal serum concentrations (N=22). Amniotic fluid to maternal serum ratios were higher for venlafaxine: 172% (SD=91%) (N=3). Of interest, the amniotic fluid to maternal serum ratios for the metabolites (N=19) did not demonstrate a consistent pattern compared to the parent compound ratios. In 10 subjects, the amniotic fluid to maternal serum ratio for the metabolites was higher than the parent compound and lower in the remaining nine subjects. Conclusions: The pattern of antidepressant concentrations in amniotic fluid is similar to recent data for placental passage. Although the significance of amniotic fluid exposure remains to be determined, these results demonstrate that maternally administered antidepressants are accessible to the fetus in a manner not previously appreciated.

83 citations


Journal ArticleDOI
TL;DR: Funisitis is present in 4% of women at term and is associated with microbial invasion of the amniotic cavity (MIAC) and inflammation as reflected by increased AF WBC count.
Abstract: Objective. Funisitis is the histologic counterpart of the fetal inflammatory response syndrome, which is a multisystemic disorder associated with impending preterm delivery and adverse neonatal outcome. The purpose of this study was to examine the relationship between funisitis and the microbiologic status of amniotic fluid (AF) and AF white blood cell (WBC) count in patients at term.Methods. The relationship between the presence of funisitis, AF culture, and AF WBC count was examined in 832 consecutive patients who delivered a term neonate within 72 hours of amniocentesis. AF was cultured for aerobic and anaerobic bacteria, as well as for mycoplasmas. Funisitis was diagnosed in the presence of neutrophil infiltration into the umbilical vessel walls or Wharton's jelly. AF WBC count was analyzed in a hemocytometer chamber. Nonparametric statistics were used for data analysis.Results. Funisitis was present in 4% (30/832) of cases. A positive AF culture was more common in cases with funisitis than in those w...

Journal ArticleDOI
TL;DR: The objective of this study was to determine the institutional pregnancy loss rate following second‐trimester genetic amniocentesis and to ascertain whether factors exist which would identify pregnancies at increased risk of having a procedure‐related fetal loss.
Abstract: Background The objective of this study was to determine the institutional pregnancy loss rate following second-trimester genetic amniocentesis and to ascertain whether factors exist which would identify pregnancies at increased risk of having a procedure-related fetal loss. Setting University Teaching Hospital Methods Details of the procedure and pregnancy outcome of all patients who had amniocentesis planned or performed between 15–22 gestational weeks between January 1997 and June 2004 were extracted from our clinical audit database. The procedure-related fetal loss rate, defined as all unintended abortions, stillbirths and neonatal deaths without major fetal abnormalities or obvious obstetric causes, was determined and compared to a presumed background fetal loss rate of 0.8% based on a cohort of women who did not undergo the procedure. Results A total of 3468 consecutive amniocentesis were performed in 3440 patients with 3498 fetuses. The mean gestational age at amniocentesis was 17.6 ± 1.2 weeks. The majority (98.6%) required only one puncture and a transplacental procedure was required in 2.7% cases. A total of 3465 chromosomal studies were performed. Sixty six cases (1.9%) of major chromosomal abnormalities were detected. Pregnancy outcome was ascertained in all except 26 singleton pregnancies (0.74%). There were 3285 (93.9%) livebirths, 103 (2.9%) termination of pregnancies (TOP), 6 (0.17%) fetal demises before the procedure, and 20 (0.61%) unintended fetal losses due to significant fetal abnormalities or obstetric complications. The remaining 58 fetal losses (1.66%) were classified as potentially procedure-related, which could be either background fetal losses or procedure-related. The procedure-related fetal loss rate after correcting for the background loss rate was 0.86%. Potentially procedure-related fetal losses were found to be significantly associated with a procedure at 18 weeks or beyond (odds ratio OR = 1.97), a procedure performed for abnormal second-trimester biochemical screening test (OR = 3.08), a bloody tap (OR = 6.48), and a female fetus (OR = 2.39); but not to the number of punctures (p = 0.66) nor transplacental amniocentesis (p = 0.104). Conclusions Mid-trimester amniocentesis is associated with a small but significant risk of fetal loss of 0.86%. Copyright © 2006 John Wiley & Sons, Ltd.

Journal ArticleDOI
TL;DR: The prevalence of major cardiac defects increases exponentially with fetal NT thickness and in fetuses with NT of 3.5 mm or more it is higher than in pregnancies with a family history of cardiac defects.
Abstract: Measuring the thickness of the fetal nuchal translucency (NT) at 11 to 13 + 6 weeks is an effective way to screen for chromosomal defects. Increased NT has also been associated with major cardiac defects as well as numerous fetal malformations and genetic syndromes. In this study, the prevalence of major cardiac defects was determined by fetal echocardiography in 6921 fetuses with a normalor presumably normal-karyotype. The study was done at a median gestational age of 20 weeks. The most common indications were increased NT thickness on the 11 to 13 + 6 scan, a perceived need to estimate the risk of chromosomal abnormality, and a history or family history of fetal defects. Most often, the echo study was done transabdominally. Either chorionic villus sampling or amniocentesis demonstrated a normal fetal karyotype, or a phenotypically normal infant was born alive. Cases with other than cardiac fetal abnormalities were excluded. Major cardiac defects were found in 132 fetuses, a prevalence of 19.1 per 1000. The prevalence increased with fetal NT thickness. It was 4.9 per 1000 when NT thickness was below the median; 8.7 per 1000 with an NT thickness between the median and less than the 95th percentile; 18.2 per 1000 for an NT thickness between the 95th and 99th centiles; and then exponentially to 35.2, 64.4, and 126.7 mm, respectfully, for NT measurements of 3.5-4.4 mm, 4.5-5.4 mm, and 5.5 mm or greater. There was no apparent difference in the distribution of NT thickness values for different types of cardiac defects. The authors believe that combining a first-trimester NT thickness measurement with a second-trimester four-chamber echocardiographic view will promote the antenatal detection of major cardiac defects in fetuses with a normal karyotype.

Journal ArticleDOI
TL;DR: In this article, the authors reported the first three cases of maternal-fetal transmission of the Chikungunya virus (CHIKV) before 16 weeks' gestational age.
Abstract: Summary Introduction Since the onset of the Chikungunya outbreak in Reunion Island, vertical maternal-fetal transmission of the virus has been observed in newborns, but no such transmission has been demonstrated early during pregnancy. We report here the first three cases of maternal-fetal transmission of the Chikungunya virus (CHIKV) before 16 weeks' gestational age. Cases Maternal infections occurred at terms of 12 weeks and 4 days, 15 weeks and 5 days, and 15 weeks and were confirmed by positive findings for specific anti-CHIKV IgM. Fetal deaths were subsequently observed, and at that point, CHIKV RT-PCR was negative for all three maternal blood samples. Amniocentesis preceded rupture of membranes in all three cases. RT-PCR showed viral genome in the amniotic fluid of the three fetuses, in the placentas of two, and in the brains of two. Autopsy found no malformations, and all other bacterial and viral test results were negative. Discussion These findings demonstrate early maternal-fetal transmission of CHIKV, which is suspected to be directly linked to the fetal deaths. This vertical transmission, probably abortifacient, should be considered in the light of human and animal responses to other arboviruses.

Journal ArticleDOI
TL;DR: An increased risk of karyotypic abnormality identified at the time of prenatal diagnosis is demonstrated in patients with an increasing number of spontaneous abortions, and information is provided regarding this risk among women presenting for prenatal diagnosis.

Journal ArticleDOI
TL;DR: Amniocentesis in women with twin pregnancies increased the risk of fetal losses prior to 20 to 24 weeks' gestation with an additional risk of one adverse outcome (1 or 2 fetal losses) for every 64 amniocenteses.
Abstract: Objective To assess the rate of fetal losses in twin pregnancies undergoing genetic mid-trimester amniocentesis.

Journal ArticleDOI
TL;DR: To assess whether anticipation of amniocentesis is linked with maternal anxiety, and whether this anxiety is associated with increased maternal plasma cortisol, a large number of women were randomly assigned to either the menopause or postpartum depression.
Abstract: Objectives To assess whether anticipation of amniocentesis is linked with maternal anxiety, and whether this anxiety is associated with increased maternal plasma cortisol.

Journal ArticleDOI
TL;DR: For daily practice, the 10-year experience of prenatal diagnosis of fetal chromosome aberrations by second-trimester amniocentesis could offer a database for proper genetic counseling, such as termination issues and future pregnancies.
Abstract: Summary Objective To retrospectively investigate the 10-year experience of prenatal diagnosis of fetal chromosome aberrations by second-trimester amniocentesis. Methods Data were collected at Taichung Veterans General Hospital between 1995 and 2004 from cytogenetic analyses of cultured amniocytes from second-trimester amniocentesis. The main indications for amniocentesis included advanced maternal age, abnormal maternal serum screening results, and abnormal ultrasound findings. Chromosome aberrations included autosomal aneuploidies, sex chromosome aneuploidies, polyploidies, and rearrangements. Variant chromosomes were considered to be normal and excluded. Results A total of 7,028 amniocenteses were performed and analyzed for chromosome aberrations. Among these, 4,026 (57.29%) were for advanced maternal age, 1,500 (21.34%) for abnormal maternal serum screening results, 553 (7.87%) for abnormal ultrasound findings, and 949 (13.50%) for other reasons. The highest detection rate of chromosome aberrations was in cases undergoing amniocentesis for abnormal ultrasound findings (8.86%), followed by other reasons (2.74%), abnormal maternal serum screening results (2.60%), and advanced maternal age (2.31%). Chromosome aberrations were detected in 207 cases (2.90%), including fetuses of 93 older mothers, 39 mothers with abnormal serum screening results, 49 mothers with abnormal ultrasound findings, and 26 mothers with other reasons for amniocentesis. Of fetuses with chromosome aberrations, 144 (69.56%) had trisomy 13, trisomy 18, trisomy 21, or sex chromosome disorder. The other 63 cases (30.44%) included balanced translocation, unbalanced abnormality, inversion, and marker chromosome. Conclusion For daily practice, our data could offer a database for proper genetic counseling, such as termination issues and future pregnancies.

Journal ArticleDOI
TL;DR: To evaluate whether cell‐free fetal DNA in maternal plasma during the second trimester is a marker for developing pregnancy‐associated complications, two PCR techniques for the detection and quantitation of fetal DNA were compared.
Abstract: Objectives To evaluate whether cell-free fetal (cff) DNA in maternal plasma during the second trimester is a marker for developing pregnancy-associated complications. Two PCR techniques for the detection and quantitation of fetal DNA were compared. Methods Plasma samples were prospectively collected from 84 pregnant women carrying male fetuses before amniocentesis (14–29 weeks). We later recorded 26 pregnancies with complicated outcomes, including five cases of fetal chromosomal abnormalities. For statistical analysis, two overlapping subgroups A and B were made. Each group was separately compared for total and fetal DNA with a corresponding group considered normal using Wilcoxon rank sum test. Male fetal DNA concentration in maternal plasma was quantified using real-time quantitative polymerase chain reaction (PCR) of SRY sequences. The samples were also analyzed by quantitative fluorescent PCR (QF-PCR) using highly polymorphic short tandem repeat DNA sequences (STRs), and the percentage of relative fetal allele concentration in maternal alleles was calculated and compared to the fetal/total DNA ratio obtained by real-time PCR. Results Quantities of total and fetal circulating DNA were significantly correlated (r2 = 0.44, P < 0.0001) with a median total DNA concentration of 522 GE/mL (range 51–3047) and a median fetal DNA concentration of 8 GE/mL (range 0–879). Neither level was correlated with gestational age in pregnancies with normal (r2 = −0.05; P = 0.66, and r2 = 0.02; P = 0.88, respectively) and abnormal (r2 = 0.45; P = 0.17, and r2 = 0.11; P = 0.76, respectively) outcomes. Although both total and fetal DNA levels were always higher in women carrying pregnancies with chromosomal aberrations or having other pregnancy complications (P-values range from 0.028 to 0.267), these differences reached statistical significance only for total DNA levels between the group A and corresponding normal pregnancies (P = 0.028). The correlation between the fetal/total DNA ratio obtained by real-time PCR and the percentage of relative fetal allele concentration in maternal alleles obtained by QF-PCR was not found to be statistically significant (r2 = 0.04; P = 0.76). Conclusion Our results confirm the clinical value of fetal DNA measurement in maternal plasma during the second trimester as a supplement for the diagnosis of aneuploidies. Its use as a screening instrument for complications that develop later in pregnancy seems to be limited but needs further investigation. Although the QF-PCR assay has the advantage of being applicable to both female and male fetuses, this approach cannot be used for quantitation of cff DNA in maternal plasma samples. Copyright © 2006 John Wiley & Sons, Ltd.

Journal ArticleDOI
TL;DR: If cervical length measured by transvaginal sonography could assist in the identification of women at high risk for intra‐amniotic inflammation is evaluated.
Abstract: Objective Intra-amniotic infection, diagnosed by microbial invasion of the amniotic cavity (MIAC) and/or the presence of intra-amniotic inflammation (IAI), is related to adverse perinatal outcome in women with preterm labor. Due to the subclinical nature of IAI, a correct diagnosis depends on amniocentesis, which is an invasive method not performed as a clinical routine. The aim of this study was to evaluate if cervical length measured by transvaginal sonography could assist in the identification of women at high risk for IAI. Methods Cervical length was assessed by transvaginal sonography in 87 women with singleton pregnancies in preterm labor (< 34 weeks of gestation). Cervical (n = 87) and amniotic (n = 55) fluids were collected. Polymerase chain reactions for Ureaplasma urealyticum and Mycoplasma hominis, and culture for aerobic and anaerobic bacteria, were performed. Interleukin (IL)-6 and IL-8 were analyzed by enzyme-linked immunosorbent assay. Results IAI was present in 25/55 (45%) of the patients presenting with preterm labor who underwent amniocentesis. Women with IAI had a significantly shorter cervical length (median, 10 (range, 0–34) mm) than had those without IAI (median, 21 (range, 11–43) mm) (P < 0.0001). Receiver–operating characteristics curve analysis showed that a cervical length (cut-off of 15 mm) predicted IAI (relative risk, 3.6; CI, 1.9–10.0) with a sensitivity of 72%, specificity of 83%, positive predictive value of 78% and negative predictive value of 78%. Cervical length was also significantly associated with preterm birth up to 7 days from sampling and at ≤ 34 weeks. Conclusion Cervical length assessed by transvaginal sonography predicts IAI as well as preterm birth and could thereby be a useful clinical tool in the management of patients in preterm labor. Copyright © 2006 ISUOG. Published by John Wiley & Sons, Ltd.

Journal ArticleDOI
TL;DR: Although Down syndrome males have been reported to be infertile, it may not always be true and it is important to advise postpubertal Down Syndrome males on contraceptive measures.

Journal ArticleDOI
TL;DR: Six consecutive heterokaryotypic monochorionic twins were evaluated and all pregnancies ended with a phenotypically normal liveborn and all children are developing normally at 1–7 years of age.
Abstract: The diagnosis, management, and outcome of six consecutive heterokaryotypic monochorionic twins were evaluated. All suspected cases, based on discordant ultrasound findings, underwent amniocentesis of both sacs. Two cases also had chorionic villous sampling (CVS). Dual amniocentesis was superior to CVS in diagnosing heterokaryotypic monochorionic twins. In four cases, the X-chromosome was involved and autosomal aneuploidy was noted in the others. In five cases, the anomalous twin was selectively reduced by cord coagulation. All pregnancies ended with a phenotypically normal liveborn and all children are developing normally at 1-7 years of age.

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TL;DR: The objective was to study the outcome of 20 twin pregnancies with evidence of primary or recurrent cytomegalovirus infection during pregnancy.

Journal ArticleDOI
TL;DR: To determine the long‐term outcome of pregnancies prenatally diagnosed with trisomy 16 and identify variables associated with the outcome, a large number of variables are identified.
Abstract: Objective To determine the long-term outcome of pregnancies prenatally diagnosed with trisomy 16 and identify variables associated with the outcome. Methods We reviewed all published and our unpublished data from trisomy 16 pregnancies for which outcomes were available for children of greater than 1 year of age. Results Nineteen cases were diagnosed with trisomy 16 on chorionic villus sampling (CVS) and 17 cases at amniocentesis. Age at last follow-up ranges from 1 to13 years. Among the CVS group, four out of five patients, with a birth weight and/or length below −2 SD and postnatal growth information, showed catch-up growth (80%). Among the amniotic fluid (AF) group, the birth weight was available in 13 cases. Eleven of the 13 cases had a birth weight less than −2 SD. In eight cases, the length was also below −2 SD (length data unavailable in one case). Nine out of ten cases (90%) and seven out of eight (87.5%) showed catch-up growth for weight and length, respectively. In terms of development, no cases of CVS mosaicism had global developmental delay. One child had a history of delay in speech development. Among the AF-detected cases, 4/17 cases had global developmental delay. All four children with global developmental delay had more than one major malformation compared to 6 out of 32 children in the group with normal development (p = 0.004). The finding of uniparental disomy (UPD) was not associated with developmental delay. Conclusions The majority of prenatally diagnosed trisomy 16 mosaic cases have a good postnatal outcome. However, the finding of mosaicism on AF and the presence of major congenital anomalies are associated with an increased risk of developmental delay. Copyright © 2006 John Wiley & Sons, Ltd.

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TL;DR: A large study of 1.1 million Indian households to examine the causes of missing girls at birth and a second public consultation the Human Fertilisation and Embryology Authority reaffirmed its position opposing sex selection for nonmedical reasons.

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TL;DR: Prenatal diagnostic accuracy of conotruncal malformations is excellent; the arterial spatial relationship of DORV remains problematic.
Abstract: The purpose of this study was to determine whether continuing experience in prenatal diagnosis of conotruncal malformations (CTMs) has resulted in improved diagnostic accuracy and outcome. Previous reports have demonstrated particular difficulty with ascertainment of the spatial relationship of the great arteries in patients with CTM. The prognosis for fetuses with CTM was poor. Medical records of 113 consecutive fetuses in whom a CTM (tetralogy of Fallot [TOF], double-outlet right ventricle [DORV], type B aortic arch interruption, transposition of the great arteries [TGA], and persistent truncus arteriosus [TA]) was diagnosed antenatally between 1994 and 2003 were reviewed. The diagnosis of the 91 fetuses with CTM included TOF (n = 32), TGA (n = 29), DORV (n = 22), and TA (n = 8). The great arterial spatial relationship was diagnosed accurately in 84 of the 91 (92%) live-born infants. In the other seven infants with DORV, the great arterial spatial relationship was identified inaccurately. The overall survival to 30 days was 85 of 91 (93%). Twenty-three of 91 (25%) patients had extracardiac anomalies. Genetic diagnosis (amniocentesis) was obtained in 63 of 94 patients; 11 (17%) had chromosomal abnormalities. Maternal glucose tolerance results were obtained in 65 of the 91 patients and were abnormal in 25 of 65 (38%). Prenatal diagnostic accuracy of conotruncal malformations is excellent; the arterial spatial relationship of DORV remains problematic. The populations of fetuses with CTMs who continue to develop to term have an excellent prognosis.

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TL;DR: Elevated midtrimester amniotic fluid levels of ITAC and ADAM‐8 could predict occult infections/inflammations, possibly resulting in preterm birth.
Abstract: Interferon-gamma-inducible T cell-alpha chemoattractant (ITAC) is a chemokine, directing activated T lymphocytes toward sites of inflammation ADAM-8 (A disintegrin and metalloprotease-8) is a glycoprotein expressed in cells promoting inflammation Elastase, a protease targeting at the degradation of intra- or extracellular proteins, is inhibited by secretory leukocyte proteinase inhibitor (SLPI), which protects against microbial invasion Adhesion molecules (soluble intercellular adhesion molecule--sICAM-1 and soluble vascular cell adhesion molecule-sVCAM--1) serve as markers of inflammation or tissue damage We hypothesized that elevated midtrimester amniotic fluid concentrations of above substances, and decreased levels of SLPI could possibly be useful predictors of asymptomatic intra-amniotic inflammation and/or infection, eventually resulting in preterm labor and delivery The study involved 312 women undergoing midtrimester amniocentesis Thirteen cases, progressing to preterm delivery ( 37 weeks) for age, parity, and gestational age at amniocentesis Amniotic fluid levels of the above substances were measured by enzyme-linked immunosorbent assay (ELISA) Only amniotic fluid ITAC and ADAM-8 levels were significantly higher (P=0005 and P 37 weeks SLPI concentrations significantly increased in women going into labor without ruptured membranes irrespective of pre- or term delivery (P < 0007, P < 0001, respectively) and correlated with elastase (r=0508, P < 0002) In conclusion, elevated midtrimester amniotic fluid levels of ITAC and ADAM-8 could predict occult infections/inflammations, possibly resulting in preterm birth

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TL;DR: Pregnant women in Brazil should be screened for the rubella antibody and the susceptible group should be vaccinated after giving birth and all services related to the health care of children, adolescents and women have become aware of the significance of the problem.

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TL;DR: The results suggest that MSS may disrupt the developmental trajectory of the maternal-fetal bond even after favorable results are known, due in part to the fact that the probabilistic nature of MSS results creates feelings of confusion rather than reassurance for many women following receipt of favorable results.

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TL;DR: A large number of markers have been reported to predict histologic CAM before birth, but it is unknown whether the levels of neutrophil elastase and lactate dehydrogenase in amniotic fluid are associated with Histologic CAM.
Abstract: Background. Chorioamnionitis (CAM) is considered to be one of the main causes of preterm labor and has been associated with an adverse perinatal outcome in preterm infants. The diagnosis of acute histologic CAM requires delivery and examination of the placenta. Although numbers of markers have been reported to predict histologic CAM before birth, it is unknown whether the levels of neutrophil elastase and lactate dehydrogenase (LDH) in amniotic fluid are associated with histologic CAM.Methods. Sixty women at gestational age of 16–35 weeks underwent transabdominal amniocentesis within 48 hr before delivery. Amniotic fluid was analyzed for white blood cell count, glucose level, LDH level, and neutrophil elastase level. The levels of neutrophil elastase were measured by latex immunoassay. Following delivery, tissue samples were obtained from umbilical cord, chorionic plate, and placental membranes. Histologic CAM was diagnosed based on Blanc's criteria.Results. Receiver-operator characteristic curve analysis...