Showing papers on "Amniocentesis published in 2010"

A review of trisomy X (47,XXX)

Abstract: Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy X are actually diagnosed. The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF) can also be associated findings. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years. Psychological features including attention deficits, mood disorders (anxiety and depression), and other psychological disorders are also more common than in the general population. Trisomy X most commonly occurs as a result of nondisjunction during meiosis, although postzygotic nondisjunction occurs in approximately 20% of cases. The risk of trisomy X increases with advanced maternal age. The phenotype in trisomy X is hypothesized to result from overexpression of genes that escape X-inactivation, but genotype-phenotype relationships remain to be defined. Diagnosis during the prenatal period by amniocentesis or chorionic villi sampling is common. Indications for postnatal diagnoses most commonly include developmental delays or hypotonia, learning disabilities, emotional or behavioral difficulties, or POF. Differential diagnosis prior to definitive karyotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome mosaicism. Genetic counseling is recommended. Patients diagnosed in the prenatal period should be followed closely for developmental delays so that early intervention therapies can be implemented as needed. School-age children and adolescents benefit from a psychological evaluation with an emphasis on identifying and developing an intervention plan for problems in cognitive/academic skills, language, and/or social-emotional development. Adolescents and adult women presenting with late menarche, menstrual irregularities, or fertility problems should be evaluated for POF. Patients should be referred to support organizations to receive individual and family support. The prognosis is variable, depending on the severity of the manifestations and on the quality and timing of treatment.

Interrogating the dynamics between power, knowledge and pregnant bodies in amniocentesis decision making

Abstract: A common assumption is that women who decline prenatal testing distrust biomedicine and trust embodied/experiential knowledge sources, while women who accept testing trust biomedicine and distrust embodied/experiential sources. Another major assumption about prenatal testing utilisation is that women who are open to abortion will undergo prenatal testing while those who are opposed to abortion will decline testing. Yet, previous research has produced inconsistent findings as to what, if anything, distinguishes women who accept or decline the offer of prenatal diagnosis. Analysing interviews with 147 pregnant women, this paper questions these assumptions about the role of abortion views and pregnant women's relative trust in various knowledge sources on their decisions to accept or decline an amniocentesis offer after a positive result on an initial diagnostic screening. We found that pregnant women's attitudes toward different knowledge sources were equally, if not more, important factors than abortion views in affecting whether individual women accepted or declined amniocentesis. At the same time, our data reveal that the relationship between 'expert' and 'lay' knowledge sources is often complex and synergistic.

Proliferation of prenatal ultrasonography

Abstract: Background: The extent to which temporal increases in the use of prenatal ultrasonography reflect changes in maternal risk is unknown. In this population-based study, we examined the use of prenatal ultrasonography from 1996 to 2006 in Ontario. Methods: With fiscal year 1996/97 as the baseline, we evaluated the relative risk (RR) and 95% confidence interval (CI) for the change in rates of ultrasonography for each subsequent year. The RR was adjusted for maternal age, income, rural residence, maternal comorbidities, receipt of genetics consultation or amniocentesis — all in the index pregnancy — and history of complications in a prior pregnancy. Results: The study sample consisted of 1 399 389 singleton deliveries. The rate of prenatal ultrasonography increased from 2055 per 1000 pregnancies in 1996 to 3264 per 1000 in 2006 (adjusted RR 1.55, 95% CI 1.54–1.55). The rate increased among both women with low-risk pregnancies (adjusted RR 1.54, 95% CI 1.53–1.55) and those with high-risk pregnancies (adjusted RR 1.55, 95% CI 1.54–1.57). The proportion of pregnancies with at least four ultrasound examinations in the second or third trimesters rose from 6.4% in 1996 to 18.7% in 2006 (adjusted RR 2.68, 95% CI 2.61–2.74). Paradoxically, this increase was more pronounced among low-risk pregnancies (adjusted RR 2.92, 95% CI 2.83–3.01) than among high-risk pregnancies (adjusted RR 2.25, 95% CI 2.16–2.35). Interpretation: Substantial increases in the use of prenatal ultrasonography over the past decade do not appear to reflect changes in maternal risk. Nearly one in five women now undergo four or more ultrasound examinations during the second and third trimesters. Efforts to promote more appropriate use of prenatal ultrasonography for singleton pregnancies appear warranted.

Cytomegalovirus infection in pregnancy.

Abstract: Objectives To review the principles of prenatal diagnosis of congenital cytomegalovirus (CMV) infection and to describe the outcomes of the affected pregnancies. Outcomes Effective management of fetal infection following primary and secondary maternal CMV infection during pregnancy. Neonatal signs include intrauterine growth restriction (IUGR), microcephaly, hepatosplenomegaly, petechiae, jaundice, chorioretinitis, thrombocytopenia and anemia, and long-term sequelae consist of sensorineural hearing loss, mental retardation, delay of psychomotor development, and visual impairment. These guidelines provide a framework for diagnosis and management of suspected CMV infections. Evidence Medline was searched for articles published in English from 1966 to 2009, using appropriate controlled vocabulary (congenital CMV infection) and key words (intrauterine growth restriction, microcephaly). Results were restricted to systematic reviews, randomized controlled trials/controlled clinical trials, and observational studies. Searches were updated on a regular basis and incorporated into the guideline. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies. Recommendations The quality of evidence reported in this document has been assessed using the evaluation of evidence criteria in the Report of the Canadian Task Force on Preventive Health Care (Table 1). 1.Diagnosis of primary maternal cytomegalovirus (CMV) infection in pregnancy should be based on de-novo appearance of virus-specific IgG in the serum of a pregnant woman who was previously seronegative, or on detection of specific IgM antibody associated with low IgG avidity. (II-2A) 2.In case of primary maternal infection, parents should be informed about a 30% to 40% risk for intrauterine transmission and fetal infection, and a risk of 20% to 25% for development of sequelae postnatally if the fetus is infected. (II-2A) 3.The prenatal diagnosis of fetal CMV infection should be based on amniocentesis, which should be done at least 7 weeks after presumed time of maternal infection and after 21 weeks of gestation. This interval is important because it takes 5 to 7 weeks following fetal infection and subsequent replication of the virus in the kidney for a detectable quantity of the virus to be secreted to the amniotic fluid. (II-2A) 4.The diagnosis of secondary infection should be based on a significant rise of IgG antibody titre with or without the presence of IgM and high IgG avidity. In cases of proven secondary infection, amniocentesis may be considered, but the risk–benefit ratio is different because of the low transmission rate. (III-C) 5.Following a diagnosis of fetal CMV infection, serial ultrasound examinations should be performed every 2 to 4 weeks to detect sonographic abnormalities, which may aid in determining the prognosis of the fetus, although it is important to be aware that the absence of sonographic findings does not guarantee a normal outcome. (II-2B) 6.Quantitative determination of CMV DNA in the amniotic fluid may assist in predicting the fetal outcome. (II-3B) 7.Routine screening of pregnant women for CMV by serology testing is currently not recommended. (III-B) 8.Serologic testing for CMV may be considered for women who develop influenza-like illness during pregnancy or following detection of sonographic findings suggestive of CMV infection. (III-B) 9.Seronegative health care and child care workers may be offered serologic monitoring during pregnancy. Monitoring may also be considered for seronegative pregnant women who have a young child in day care. (III-B)

Trends in prenatal screening and diagnostic testing among women referred for advanced maternal age

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.

Pregnancy outcomes in women with familial Mediterranean fever receiving colchicine: is amniocentesis justified?

Abstract: Objective To evaluate the outcome of pregnancies in women with familial Mediterranean fever (FMF) who are taking colchicine, and to reconsider the justification for amniocentesis in these women. Methods The outcome of 179 pregnancies in a group of women with FMF taking colchicine was compared with the outcome of 197 pregnancies in women with FMF who did not take colchicine during pregnancy and with 312 pregnancies in another cohort of healthy pregnant women of similar age and ethnicity. Results There was no difference in the 3 groups regarding early abortions, late abortions, or congenital malformations. There was a mild trend towards a better outcome for the colchicine-treated group but these results did not reach statistical significance. Conclusion Treatment with colchicine during pregnancy in patients with FMF is beneficial in controlling the disease while not affecting the outcome of the pregnancy; therefore there is no justification for recommending amniocentesis in women taking colchicine solely because of this treatment.

The frequency and clinical significance of intra-amniotic infection and/or inflammation in women with placenta previa and vaginal bleeding: an unexpected observation

Abstract: OBJECTIVE Idiopathic vaginal bleeding, a common complication of pregnancy, increases the risk of small-for-gestational age (SGA) neonate, preeclampsia and preterm delivery and can be the only clinical manifestation of intra-amniotic infection and/or inflammation (IAI). Placenta previa is thought to be protective against ascending intrauterine infection, yet an excess of histologic chorioamnionitis has been reported in this condition. The aim of this study was to determine the frequency and clinical significance of IAI in women with placenta previa and vaginal bleeding in the absence of preterm labor. STUDY DESIGN A retrospective cohort study including 35 women with placenta previa and vaginal bleeding <37 weeks of gestation who underwent amniocentesis was undertaken. Patients with multiple gestations were excluded. Intra-amniotic infection was defined as a positive culture for microorganisms, and intra-amniotic inflammation as an elevated amniotic fluid interleukin (IL)-6 concentration. IL-6 concentrations were determined by ELISA in 28 amniotic fluid samples available. Non-parametric statistics were used for analysis. RESULTS 1) The prevalence of intra-amniotic infection was 5.7% (2/35), and that of IAI was 17.9% (5/28); 2) the gestational age at delivery was lower in patients with IAI than in those without IAI [29.4 weeks, interquartile range (IQR): 23.1-34.7 vs. 35.4 weeks, IQR: 33.9-36.9; P=0.028]; and 3) patients with placenta previa and IAI had a higher rate of delivery within 48 h (80% (4/5) vs. 19% (4/21); P=0.008) than those without IAI. CONCLUSIONS Patients with placenta previa presenting with vaginal bleeding have intra-amniotic infection in 5.7% of the cases, and IAI in 17.9%. IAI in patients with placenta previa and vaginal bleeding is a risk factor for preterm delivery within 48 h.

Chronic Viral Infections and Invasive Procedures: Risk of Vertical Transmission and Current Recommendations

Abstract: The risk of transmission of human immunodeficiency virus (HIV), hepatitis B (HBV) and hepatitis C virus (HCV) during invasive procedures may not be negligible, although it has been poorly assessed. The risk of hepatitis B transmission during amniocentesis seems to be low, but it may be increased in women with a positive HBeAg. HCV transmission risk cannot be established because evidence is lacking. No information exists about other invasive procedures in such infections. An increased risk of vertical transmission following an invasive procedure was suggested in HIV infection, but amniocentesis seems to be safe when performed under highly active antiretroviral treatment, with a low viral load and when avoiding placental passage. International guidelines do not clearly define policies to screen for maternal blood-borne virus infection during invasive procedures. Nevertheless, serological status should be assessed in all cases and parents should be aware of the existing evidence for transmission risk. Transplacental amniocentesis should always be avoided.

Approach to the patient with resistance to thyroid hormone and pregnancy.

Abstract: Resistance to thyroid hormone (RTH), a syndrome of reduced end-organ responsiveness to thyroid hormone (TH), is mostly caused by mutations in the TH receptor (TR) β gene. Diagnosis is based on persistent elevations of serum free T4 and often T3 levels in the absence of TSH suppression, and confirmation in most cases is by way of genetic testing. The mainstay in the management of RTH patients who are asymptomatic is to recognize the correct diagnosis and avoid antithyroid treatment. Deciding whether to manage these patients with TH replacement is made even more challenging when an affected individual is pregnant. How one approaches such a patient with pregnancy and RTH would depend on the genotype of the fetus. This requires obtaining prenatal information on the genotype of the fetus and a thorough history of the outcome of previous pregnancies as well as a history of the course and outcome of other family members with RTH. If the TRβ mutation is known in the mother, the fetus can be rapidly genotyped from DNA from amniocentesis for the same mutation, and then management decisions could be made regarding thyroid or antithyroid hormone treatment.

Mosaic Trisomy 7 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses

Abstract: SUMMARY Objective: To present prenatal diagnosis and molecular genetic analyses of mosaic trisomy 7. Materials, Methods and Results: A 38-year-old primigravid woman underwent amniocentesis at 19 weeks of gestation because of her advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+7[26]/46, XY[16]. Repeated amniocentesis at 21 weeks of gestation revealed a karyotype of 47,XY,+7[20]/46,XY[17]. Simultaneous cordocentesis revealed a karyotype of 46,XY in 100/100 cultured lymphocytes. Polymorphic DNA marker analyses of uncultured amniocytes and cord blood revealed a diallelic pattern with seemingly equal biparental inheritance of chromosome 7. Repeated cordocentesis and chorionic villus sampling at 23 weeks of gestation revealed a karyotype of 47,XY,+7[2]/46,XY[66] in cord blood and a karyotype of 47,XY,+7 in 24/24 cultured chorionic villi cells. Level II ultrasonography was normal. At 40 weeks of gestation, a 2,708 g normal male baby was delivered. The peripheral blood had a karyotype of 46,XY in 100/100 lymphocytes. Molecular analyses of placenta, urine, buccal swab, and peripheral blood revealed a diallelic pattern and seemingly equal biparental inheritance of chromosome 7 in all tissues. At 3 months of age, he manifested hypopigmented skin and inguinal hernia, but showed normal growth and mental development. Fluorescence in situ hybridization analysis of inguinal hernia sac tissue revealed that 19/100 (19%) of nuclei had three chromosome 7 signals. Conclusion: Mosaic trisomy 7 at amniocentesis may be derived from a cell culture artifact from an undetected low level of trisomy 7 mosaicism in uncultured amniocytes, and can be associated with favorable fetal outcome if the blood has a normal karyotype or a very low level of mosaicism and if uniparental disomy for chromosome 7 is excluded. [Taiwan J Obstet Gynecol 2010;49(3):333–340]

Non-Invasive Prenatal Detection of Trisomy 21 Using Tandem Single Nucleotide Polymorphisms

Abstract: Background: Screening tests for Trisomy 21 (T21), also known as Down syndrome, are routinely performed for the majority of pregnant women. However, current tests rely on either evaluating non-specific markers, which lead to false negative and false positive results, or on invasive tests, which while highly accurate, are expensive and carry a risk of fetal loss. We outline a novel, rapid, highly sensitive, and targeted approach to non-invasively detect fetal T21 using maternal plasma DNA. Methods and Findings: Highly heterozygous tandem Single Nucleotide Polymorphism (SNP) sequences on chromosome 21 were analyzed using High-Fidelity PCR and Cycling Temperature Capillary Electrophoresis (CTCE). This approach was used to blindly analyze plasma DNA obtained from peripheral blood from 40 high risk pregnant women, in adherence to a Medical College of Wisconsin Institutional Review Board approved protocol. Tandem SNP sequences were informative when the mother was heterozygous and a third paternal haplotype was present, permitting a quantitative comparison between the maternally inherited haplotype and the paternally inherited haplotype to infer fetal chromosomal dosage by calculating a Haplotype Ratio (HR). 27 subjects were assessable; 13 subjects were not informative due to either low DNA yield or were not informative at the tandem SNP sequences examined. All results were confirmed by a procedure (amniocentesis/CVS) or at postnatal follow-up. Twenty subjects were identified as carrying a disomy 21 fetus (with two copies of chromosome 21) and seven subjects were identified as carrying a T21 fetus. The sensitivity and the specificity of the assay was 100% when HR values lying between 3/5 and 5/3 were used as a threshold for normal subjects. Conclusions: In summary, a targeted approach, based on calculation of Haplotype Ratios from tandem SNP sequences combined with a sensitive and quantitative DNA measurement technology can be used to accurately detect fetal T21 in maternal plasma when sufficient fetal DNA is present in maternal plasma.

Confined placental mosaicism and pregnancy outcome: a distinction needs to be made between types 2 and 3

Abstract: Objective To study the influence of types 2 and 3 confined placental mosaicism (CPM) on pregnancy outcome. Method From 13 809 chorionic villus samplings (CVSs), karyotype after long-term cultured villi (LTC-villi) was systematically performed. Next, in case of suspicion of CPM, karyotype after short-term cultured villi (STC-villi) was established to define type 2 CPM (chromosomal abnormality limited to the mesenchymal core) or type 3 CPM (chromosomal abnormality found both in the cytotrophoblast and the mesenchymal core). Confirmatory amniocentesis was performed to exclude fetal mosaicism. Uniparental disomy (UPD) testing was carried out when the abnormal cell line involved chromosomes 5, 6, 7, 15 or 16. Results Fifty-seven CPM cases were observed (57/13 809 = 0.41%) and of these, 37 were type 2 and 20 were type 3 CPM. Incidence of preterm infants, neonatal hypotrophy and adverse pregnancy outcome were comparable between patients in whom type 2 CPM was demonstrated and the control population. In contrast, for the type 3 CPM the incidence of these factors was higher than for the control population. Conclusion When a CPM is suspected, it appears essential to determine type, since type 2 has no effect on fetal development and type 3 is associated with preterm infants, low birth weight and adverse pregnancy outcome. Copyright  2010 John Wiley & Sons, Ltd.

Hemangioma in the newborn: increased incidence after chorionic villus sampling.

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.

Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes.

Abstract: During the past 20 years non-invasive screening tests have been increasingly utilized in prenatal diagnosis (PD) practice. Considerable effort has been exerted by multicenter consortia to evaluate the reliability of non-invasive screening tests in detecting those women with an increased risk of having a pregnancy affected by trisomies 21, 18, and 13, monosomy X, and triploidies. To what extent this group of abnormal karyotypes accounts for the total number of phenotypically relevant fetal chromosome abnormalities has, however, never been investigated. The present report is an attempt aimed to quantify this proportion. A retrospective analysis of a homogeneous survey of 115,128 consecutive invasive prenatal tests was undertaken. All cases were classified in accordance with the indication given for the invasive testing. Cytogenetic results regarding 96,416 karyotype analyses performed because of advanced maternal age (≥35 years) or gestational anxiety ( 50% in women ≥35 years (65.1% and 61.8%, respectively). To conclude, approximately 50% of the phenotypically relevant abnormal karyotypes cannot be detected by non-invasive prenatal screening tests. © 2010 Wiley-Liss, Inc.

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A paradigm for prenatal diagnosis and treatment

Abstract: 21-Hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), an inherited disorder of steroidogenesis. In its severe form, CAH causes genital ambiguity in females. Molecular genetic analysis of fetal DNA obtained by amniocentesis or chorionic villus sampling is used to diagnose steroid 21-OHD deficiency in utero. Large ongoing studies show that appropriate prenatal treatment of pregnant mothers with dexamethasone is effective and safe for both the fetus and the mother. It reduces ambiguous genitalia in the female affected fetus and thus avoids unnecessary genitoplasty in the newborn female.

Does Hepatitis B Virus Prenatal Transmission Result in Postnatal Immunoprophylaxis Failure

Abstract: The objective of this work was to evaluate whether postnatal hepatitis B immunization failure in children is caused by prenatal infections. A prospective study was conducted from October 2006 to September 2008. Fetal samples from HBsAg-positive mothers were retrieved by either amniocentesis or cordocentesis (percutaneous umbilical blood sampling [PUBS]). Hepatitis B virus (HBV) serologic markers (HBVM) and quantitative HBV DNA assays were performed to assess prenatal infection. All neonates were given combined HBV immunoprophylaxis after delivery. The newborns were followed up with HBV serologic testing at 1 year old. For the 252 pregnant women recruited, 16 fetuses were found to be HBV DNA positive, with all HBV DNA levels under 10(4) copies/ml. HBsAg and HBV DNA detected in the uterus were uncommon and were expressed at low levels. In contract to the case with prenatal statuses, neonatal serologies were more similar to their mothers'. The response rate of vaccination was 95%. Six children for whom immunoprophylaxis failed were born to HBeAg-positive mothers with high HBV DNA levels (>10(8) copies/ml), but only one of them was found to be positive for intrauterine HBV DNA (8.5 × 10(2) copies/ml). The presence of intrauterine hepatitis B antigen and DNA does not indicate postnatal HBV infection and vaccination failure.

Information and decision support needs of parents considering amniocentesis: interviews with pregnant women and health professionals.

Abstract: Objective Our aim was to clarify and categorize information and decision support needs of pregnant women deciding about amniocentesis. Background Prenatal screening for Down’s syndrome (implemented in routine practice) generates a quantifiable risk of chromosome abnormality. To increase certainty, chromosomal material needs to be obtained through amniocentesis or other diagnostic test. Amniocentesis carries risks of pregnancy loss. Methods Semi-structured interviews were conducted with health professionals and pregnant women who had considered amniocentesis. The data were qualitatively analysed using a two-step thematic content analysis. Results A sample of 17 health professionals and 17 pregnant women were interviewed. Professionals demonstrated little consensus regarding the miscarriage rate, the potential consequences of amniocentesis testing and the uncertainty associated with the tests. Furthermore, methods employed to communicate risks varied between professionals. Pregnant women reported heightened stress and anxiety. Twelve out of 17 women described the decision as complex and difficult to make while five participants were satisfied with the information and support provided. Women would have liked more information about the risks involved, the results, the consequences of an amniocentesis and associated emotional difficulties. Women highlighted the need for personalized information, presented in multiple ways, while remaining simple and unbiased. Conclusions There is variation in the provision of information related to amniocentesis testing. The majority of pregnant women reported difficulties making a decision and identified dimensions of information and decision support where improvements were needed.

Maternal antimullerian hormone levels do not predict fetal aneuploidy

Abstract: To determine if diminished ovarian reserve (measured by maternal antimullerian hormone (AMH) levels), is associated with fetal aneuploidy (determined by prenatal karyotype). This case-control study included 213 women with singleton pregnancies who underwent both serum aneuploidy screening and invasive prenatal diagnosis. 18 patients carrying an aneuploid fetus served as cases and the remaining 195 women with a euploid fetus were controls. Serum AMH was measured using two assays: AMHbc (Beckman-Coulter) and AMHdsl (Diagnostic Systems Laboratories). Karyotypes were determined by chorionic villus sampling or amniocentesis. AMHbc levels did not differ between women with an aneuploid fetus and women with a euploid fetus (p = 0.46) and did not predict aneuploidy (ROC Area = 0.57). Additionally, AMHbc values declined significantly with advancing gestational age. Maternal AMH does not appear to be a marker of fetal aneuploidy in ongoing pregnancies. Contrary to previous reports, we found a significant decline in maternal AMH levels with advancing gestational age.