Risk Of Down Research Articles

Clinicopathological characteristics of placental chorioangioma: A clinicopathological study of 30 cases.

The objective is to explore clinicopathological characteristics, diagnosis, differential diagnoses, treatment, and prognoses of placental chorioangioma (PCA). The pathological data of 30 cases of PCA were collected; the color Doppler ultrasound, Down's screening, fetal survival, and pathological characteristics were observed; and the literature was reviewed. Of the 30 patients, the ages ranged from 20 to 38 years, with an average of 29.6 years. Pregnancy comorbidity occurred in 14 patients; intrauterine fetal death occurred in 4; the gross appearance of the tumor: a reddish-brown nodule, slightly round, 0.5-8 cm in diameter, can be seen on the cut surface of the placenta Pregnancy comorbidity occurred in 14 patients and intrauterine fetal death in 4. On sectioning the placenta, tumors grossly appeared as reddish-brown nodules, slightly round and ranging in diameter from 0.5 to 8 cm. Microscopically, the tumor has small, densely packed capillaries with fibrous connective tissue in the stroma. There were 10 cases with high risk of Down's syndrome screening, and the immunophenotype CD34 (+) and Ki-67 proliferation index were less than 10%. PCA is rare and may be misdiagnosed as malignant tumor, which may be related to pregnancy comorbidity and high risk of Down's screening, so improving the understanding of PCA can provide the basis for clinical diagnosis and intervention. PCA is a rare tumor which may be misdiagnosed as a malignancy. It may be related to pregnancy comorbidity and high risk of Down's screening. Improving the understanding of PCA could provide the basis for clinical diagnosis and intervention.

Biochemical Screening and Pregnancy Outcome after Assisted Reproduction

Women conceived using Artificial Reproduction Technology (ART) are more likely to have a high risk of Down’s Syndrome (DS) compared with the women who conceived naturally. On comparison with naturally conceived pregnancies

Prenatal diagnosis of 15q11.2 microdeletion fetuses in Eastern China: 21 case series and literature review

Objective 15q11.2 microdeletion can lead to syndromes affecting the nervous system. However, 15q11.2 microdeletion has large phenotypic differences and incomplete penetrance, which brings challenges to prenatal diagnosis. We reported 21 cases of 15q11.2 microdeletion fetuses in Eastern China and reviewed literature on the prenatal clinical characteristics related to the deletion variants to provide a basis for prenatal genetic counseling. Methods The clinical data of 21 cases of 15q11.2 microdeletion fetuses collected from June 2018 to September 2021 were retrospectively analyzed, and chromosomal microarray analysis was performed. The reported prenatal clinical features of 15q11.2 microdeletion fetuses were reviewed and summarized. A meta-analysis of 20 studies was performed to test heterogeneity, data integration, and sensitivity on the correlation between 15q11.2 microdeletion and neuropsychiatric diseases. Results The median age of the women was 29.5 years. The median gestational age at interventional examination was 24 weeks. All fetuses showed deletion variants of the 15q11.2 fragment, and the median deletion range was approximately 0.48 MB. Ultrasound of five cases showed no abnormalities; however, four of them showed a high risk of Down’s syndrome (risk values were 1/184, 1/128, 1/47, and 1/54, respectively). The remaining 16 fetuses showed congenital heart disease (7/16), elevated nuchal translucency (5/16), abnormal brain structure (2/16) and renal disease (2/16). In a literature review of 82 prenatal cases, 44% (36/82) had abnormal ultrasound features, 31% (11/36) showed abnormal nuchal translucency, approximately 28% (10/36) showed abnormal cardiac structure, and 14% (5/36) had brain structural abnormalities. The meta-analysis revealed that the frequency of the 15q11.2 microdeletion mutation in patients with schizophrenia and epilepsy was significantly higher (odds ratio 2.04, 95% confidence interval: 1.78–2.33, p < 0.00001; odds ratio 5.23, 95% confidence interval: 2.83–9.67, p < 0.00001) than that in normal individuals. Conclusion More than half of the 15q11.2 microdeletion cases presented no abnormalities in prenatal ultrasound examination. The cases with ultrasound features mainly showed isolated malformations such as elevated nuchal translucency, congenital heart disease, and brain structural abnormalities. Postpartum 15q11.2 microdeletion patients are at an increased risk of suffering from schizophrenia, epilepsy, and other neurological and mental diseases from 15q11.2 microdeletion. Therefore, prenatal diagnosis of 15q11.2 microdeletion not only depends on molecular diagnostic techniques but also requires cautious genetic counseling.

Incidence of Down Syndrome by maternal age in Chinese population.

Objective: This study aims to estimate the maternal age-related risk of Down syndrome in an Asian population. Methods: We performed a retrospective data analysis including a total of 206,295 pregnant women who presented for second-trimester maternal serum screening for Down syndrome at Hubei Maternal and Child Health Hospital for the years 2008–2017. Cases were assigned to three groups: ≤26 years of age, 27–33 years of age, and ≥34 years of age. The incidence of Down Syndrome was calculated for each age group. The differences between groups were tested using the chi-square (χ2) test. Results: The incidence of Down syndrome in women ≤26 years of age, 27–33 years of age, and ≥34 years of age was 0.67‰, 0.29‰, and 2.07‰ respectively. Statistically significant difference was found between the three age groups (χ2 = 79.748, p < 0.05). Conclusion: Down syndrome rate was significantly higher in women ≥34 years of age. Younger women (≤26 years of age) had a significantly higher risk for Down’s syndrome, compared to women aged 27–33.

Association between MTHFR C677T and A1298C gene polymorphisms and maternal risk for Down syndrome: A protocol for systematic review and/or meta-analysis.

Background:Down syndrome (DS) is one of the most common chromosomal abnormalities among live-born babies and one of the best-known intellectual disability disorders in humans. Errors leading to trisomy 21 are primarily arising from defects in chromosomal segregation during maternal meiosis (about 88% of cases), and the focus of many investigations has been to identify maternal risk factors favoring chromosome 21 malsegregation during oogenesis. Maternal polymorphisms of genes required for folate metabolism are the most investigated risk factors for the birth of children with DS. Through this review, we sought to investigate the association of the polymorphisms “C677T” and “A1298C” of the MTHFR gene with maternal risk for DS.Methods:We will use the databases PubMed, Embase, Scopus and Web of Science to search for case-control studies published from 1999 up to September 2021 without language restriction. Results will be presented as relative risks and 95% confidence intervals for dichotomous outcomes and mean differences, or standardized mean differences along with 95% confidence intervals, for continuous outcomes. The all data synthesis will be analyzed on the Review Manager 5.2 version software.Results:This study will be able to clarify all the doubts we seek and that it will be able to provide accurate data that will be able to describe how these polymorphisms can act to increase the predisposition for the birth of children with DS in different populations and under different dietary conditions.Conclusions:This study will clarify the relationship between C677T and A1298C polymorphisms MTHFR gene with increased the maternal risk for Down syndrome.Registration:This systematic review and meta-analysis protocol has been registered on the Prospective Registry of International Systematic Review and Meta-analyses: CRD42021269338.

Immunoassay-Amplified Responses Using a Functionalized MoS2-Based SPR Biosensor to Detect PAPP-A2 in Maternal Serum Samples to Screen for Fetal Down's Syndrome.

BackgroundDue to educational, social and economic reasons, more and more women are delaying childbirth. However, advanced maternal age is associated with several adverse pregnancy outcomes, and in particular a high risk of Down’s syndrome (DS). Hence, it is increasingly important to be able to detect fetal Down’s syndrome (FDS).MethodsWe developed an effective, highly sensitive, surface plasmon resonance (SPR) biosensor with biochemically amplified responses using carboxyl-molybdenum disulfide (MoS2) film. The use of carboxylic acid as a surface modifier of MoS2 promoted dispersion and formed specific three-dimensional coordination sites. The carboxylic acid immobilized unmodified antibodies in a way that enhanced the bioaffinity of MoS2 and preserved biorecognition properties of the SPR sensor surface. Complete antigen pregnancy-associated plasma protein-A2 (PAPP-A2) conjugated with the carboxyl-MoS2-modified gold chip to amplify the signal and improve detection sensitivity. This heterostructure interface had a high work function, and thus improved the efficiency of the electric field energy of the surface plasmon. These results provide evidence that the interface electric field improved performance of the SPR biosensor.ResultsThe carboxyl-MoS2-based SPR biosensor was used successfully to evaluate PAPP-A2 level for fetal Down’s syndrome screening in maternal serum samples. The detection limit was 0.05 pg/mL, and the linear working range was 0.1 to 1100 pg/mL. The women with an SPR angle >46.57 m° were more closely associated with fetal Down’s syndrome. Once optimized for serum Down’s syndrome screening, an average recovery of 95.2% and relative standard deviation of 8.5% were obtained. Our findings suggest that carboxyl-MoS2-based SPR technology may have advantages over conventional ELISA in certain situations.ConclusionCarboxyl-MoS2-based SPR biosensors can be used as a new diagnostic technology to respond to the increasing need for fetal Down’s syndrome screening in maternal serum samples. Our results demonstrated that the carboxyl-MoS2-based SPR biosensor was capable of determining PAPP-A2 levels with acceptable accuracy and recovery. We hope that this technology will be investigated in diverse clinical trials and in real case applications for screening and early diagnosis in the future.

Prenatal diagnosis of 913 fetuses samples using copy number variation sequencing.

BackgroundThe present study aimed to explore the etiological relationship between fetal abnormalities and copy number variations (CNVs) with the aim of intervening and preventing the birth of children with birth defects in time.MethodsSamples of 913 fetuses with puncture indications were collected from January 2017 to December 2019. Karyotype analysis and CNV sequencing (CNV‐seq) testing was performed for fetuses with ultrasonic abnormalities, a high risk of Down’s syndrome and an adverse birth history. All cases were followed up.ResultsIn total, 123 cases (13.47%) had abnormal karyotypes, including 109 cases with chromosome number abnormalities and 14 cases of chromosomal structural abnormalities. Thirty‐seven (4.05%) cases with pathogenic CNVs were detected. The detection rate of pathogenicity CNVs was 12.82% for mixed indications, followed by 7.5% for an adverse birth history, 5.88% at high risk of non‐invasive prenatal testing, 5.00% with an abnormal ultrasonic marker, 1.89% at high risk of screening for Down's syndrome and 1.45% with advanced maternal age. There were 12 (1.31%) cases with microduplications and 25 (2.74%) cases with microdeletions. Trisomy 21 (39.02%), trisomy 18 (13.82%) and Turner syndrome (9.76%) were the top three chromosome abnormalities. There were 104, 746 and 63 cases in the 11–13 weeks, 14–27 weeks 28–38 weeks gestational ages, respectively. The abnormal rates of fetal chromosome aneuploidy and the rate of pathogenic CNVs were decreased and increased with the increase of gestational age (p < 0.05), respectively.ConclusionsCompared with karyotype analysis, CNV‐seq can improve the detection rate of chromosomal abnormalities. CNV‐seq combined karyotype analysis should be performed simultaneously in fetuses with puncture indications.

The Population Prevalence, Associations of Congenital Heart Defect and Mortality Risk for Down's Syndrome in South Korea Based on National Health Insurance Service (NHIS) Data.

BackgroundIn the present study, we estimated the population prevalence, associations of congenital heart defect (CHD) and mortality risk for DS using data from National Health Insurance Service (NHIS) and Rare Diseases Registry (RDR).MethodsWe collected data on subjects with DS who were registered in the RDR between 2010 and 2015. To estimate associations of CHD and mortality risk of DS, the data of DS subjects were compared with 1:5 age- and sex-matched controls.ResultsIn 2015, 2077 individuals with DS were identified out of the total population of 51,574,044 South Koreans and the prevalence was 4.03 per 100,000 persons. The trend of DS population prevalence across 10-year-old intervals showed a peak in the group under the age of 10 years (26.0 per 100,000 persons) and then declined sharply after the age of 20 years (0.98 per 100,000 persons at 30–39 years of age). In subjects with DS, the frequencies of atrial septal defect [odds ratios (OR) =65.9; 95% CI, 84.1–99.1], ventricular septal defect (OR = 88.1, 95% CI, 57.9–134.1), patent ductus arteriosus (OR = 56.9, 95% CI, 40.1–80.8), tetralogy of fallot (OR = 42.1, 95% CI, 19.3–92.3), or atrioventricular septal defect (OR = 510.0, 95% CI, 126.7–999.0) were higher than those of age- and sex-matched controls. The risk of death in patients with DS was significantly higher than that of age- and sex-matched controls [hazard ratio (HR) =41.7, 95% CI 20.0–87.0].ConclusionIn South Korea, the DS population prevalence was 4.03 per 100,000 persons in 2015. The subjects with DS were more likely to accompany CHD and have higher mortality risk than healthy controls.

Second tier non-invasive prenatal testing in a regional prenatal diagnosis service unit: a retrospective analysis and literature review.

The Hong Kong Hospital Authority has newly introduced a new Down's syndrome screening algorithm that offers free-of-charge non-invasive prenatal testing (NIPT) to women who screen as high risk. In preparation for this public-funded second tier NIPT service, the present study was conducted to retrospectively analyse women eligible for NIPT and to review the local literature. Our retrospective study included women screened as high risk for Down's syndrome (adjusted term risk ≥1:250) during the period of 1 January 2015 to 31 December 2016. We performed descriptive statistics and multivariable logistic regression to examine the factors associated with women's choice between NIPT and invasive testing. We also reviewed existing local literature about second tier NIPT. The study included 525 women who screened positive: 67% chose NIPT; 31% chose invasive diagnostic tests; and 2% declined further testing. Our literature review showed that in non-research (self-financed NIPT) settings, NIPT uptake rates have been increasing since 2011. Nulliparity, first trimester status, higher education, maternal employment, and conception by assisted reproductive technology are common factors associated with self-financed NIPT after positive screening. Among women choosing NIPT, the rates of abnormal results have typically been around 8% in studies performed in Hong Kong. Implementation of second tier NIPT in the public setting is believed to be able to improve quality of care. We expect that the public in Hong Kong will welcome the new policy.

5-Year review on amniocentesis and its maternal fetal complications.

Background Amniocentesis is a well-known invasive procedure which is commonly carried out in the second trimester. The indication for amniocentesis varies throughout countries and centers. Despite providing significant prenatal diagnosis; many maternal and fetal complications have been reported from previous studies. Materials and methods This retrospective study aimed to determine the maternal and fetal complications following amniocentesis. This study involved all patients who underwent amniocentesis from January 2012 until June 2017 in a tertiary centre. Maternal age, parity, premorbid medical conditions, amniocentesis indications, gestational age during amniocentesis, karyotyping results, complications during and post procedure and the fetal outcomes were reviewed and analyzed. Results One hundred and fourteen patients' medical records were reviewed and the majority of patients (50.9%) ranged in age from age 30 to 39 years old with mean age of 34.29 years. Amniocentesis was performed during the second trimester in the majority of patients (71.1%). The indications for amniocentesis in this study were polyhydramnios (7.9%), advanced maternal age (9.6%), risk of Down's syndrome (31.6%), increased risk of Patau syndrome (6.1%), increased risk of Edward's syndrome (4.4%) and abnormal fetal ultrasonography (70.2%). Cytogenetics results of amniocentesis were normal in 82 patients (71.9%). The majority of patients (86.0%) had no complications. Two patients (12.5%) had intrauterine death presumed to be procedural related. Conclusion This 5-year retrospective study on amniocentesis procedure showed that the majority of amniocentesis were safe as 86.0% of the patients were free from any complications. Anticipating its complication is important as there is always a risk even though it is a safe procedure in general.

Establishment of medians for maternal serum markers in Down's syndrome screening during the second trimester of pregnancy in north-central region of Jiangxi Province

To establish the median databases of serum markers for Down's syndrome screening during the second trimester of pregnancy women in the north-central area of Jiangxi Province. Methods: Time-resolved fluorometry was used to detect the serum contents of AFP free β-hCG and uE3 in 57 548 pregnant women during 15-20 gestational weeks. Risk evaluation was conducted by LifeCycle 4.0. SAS 9.2 software was used to establish a model of the median fitted equation. The newly constructed median system was used to reassess the risk of Down's syndrome development in pregnant women. Results: The medianand built in medianof north-central region in Jiangxi Province are significantly different (Z=2.201, P=0.028). The relationship between the median of the triple index and the gestational age was analyzed by the weight regression model. The relationship between the MoM value and the weight was used to calculate the reciprocal model. The median of the new system was more efficiency than the built in median. In the median of the new system than the reference, the detection rate improved from 62.75% to 72.55%, false positive rate reduced by 5.84% to 4.94%. Conclusion: The newly constructed median system is suitable for Down's syndrome screening in the north-central region of Jiangxi Province.

Duo test and aneuploidy detection in women under 35 years of age with high-risk pregnancy at the Hospital General de México

Non-invasive procedures for prenatal diagnosis are the most frequently used methods in the first trimester of pregnancy in pregnant women under 35 years of age because they do not involve risk of pregnancy loss; however, they are not considered to be a definitive diagnosis method. During the first trimester the duo test (PAPP-A and free βhGC), cell-free fetal DNA in maternal blood and structural ultrasound scans are the principal tools used; the quadruple marker test (αFP, E3, β-hCG, inhibin A) is used in the second trimester. However, the definitive diagnosis is performed by cytogenetic analysis through amniocentesis. MethodsThirty women, under 35 years of age with high-risk pregnancy, were studied with duo test and structural ultrasound in the first trimester and amniocentesis in weeks 15–18. ResultsOnly five duo tests were positive: three showed risk of trisomy 18 and one of Turner syndrome, they all corroborated with the cytogenetic study; the fifth showed a risk of Down's syndrome, however it was a chromosomally normal product. Three patients with a negative duo test cytogenetically detected with karyotypes with structural abnormalities, which were: deletion of the short arm of chromosome 18 [46,XY, del(18)(p11)], Robertsonian translocation between chromosome 13 and 14 [45,XY, rob(13:14)] and a chromosome derived from X [46,X, der(X)]. The duo test is a very useful tool for the diagnosis of numerical chromosome abnormalities, but not for detecting structural chromosome aberrations. However, it is essential to perform amniocentesis to definitively rule out chromosomal aberrations in products of conception.

Maternal MTHFR polymorphism (677 C-T) and risk of Down's syndrome child: meta-analysis.

Methylenetetrahydrofolate reductase (MTHFR) is the most important gene that participates in folate metabolism. Presence of valine instead of alanine at position 677 and elevated levels of homocystein causes DNA hypomethylation which in turn favours nondisjunction. In this study, we conducted a meta-analysis to establish link between maternal single-nucleotide polymorphism (SNP) and birth of Down's syndrome (DS) child. A total of 37 case-control studies were selected for analysis including our own, in which we investigated 110 cases and 111 control mothers. Overall, the result of meta-analysis showed significant risk of DS affected by the presence of maternal SNP (MTHFR 677 C-T OR = 0.816, 95% CI = 0.741-0.900, P <0.0001). Heterogeneity of high magnitude was observed among the studies. The chi-square value suggested a highly significant association between homozygous mutant TT genotype and birth of DS child (χ² = 23.63, P = 0.000). Genetic models suggested that 'T' allele possesses high risk for DS whether present in dominant (OR = 1.23, 95% CI = 1.13-1.34); codominant (OR = 1.17, 95% CI = 1.10-1.25) or recessive (OR = 1.21, 95% CI = 1.05-1.38) form. The analysis from all 37 studies combined together suggested that MTHFR 677 C-T is a major risk factor for DS birth.

Second trimester maternal serum triple screening marker levels in normal twin and singleton pregnancies.

The aim of the present study was to evaluate the serum levels of α-fetoprotein (AFP), free-β-human chorionic gonadotropin (free-β-hCG) and unconjugated estriol (uE3) in second trimester maternal serum and comparative analysis of serum markers levels in normal twin and singleton pregnancies, and to evaluate the feasible methods for the screening performances of triple markers in twin pregnancy. The levels of maternal serum markers were measured by magnetic microparticle chemiluminescence immunoassay in the second trimester. TCSoft was used for calculating the risk of Down's syndrome (DS). The marker levels were compared between the twin and singleton pregnancies, along with gestational age, and the weight or age of the pregnant women. The concentrations of the maternal serum markers were higher on average in twin compared to in singleton pregnancies in the second trimester of the gestation. The levels of AFP were 2-fold higher in twin compared to those in singleton pregnancies in weeks 16, 17 and total gestational weeks. For free-β-hCG, the levels were higher in 15 and 18 gestational weeks. However, significant differences were found in all the gestational weeks for uE3. There was no correlation between the levels of markers and weight or age in the twin pregnancies. The serum marker levels of AFP, free-β-hCG and uE3 in normal twins were not all 2-fold higher compared to singleton pregnancies. The current singleton gestational age-specific model for DS screening requires further correction so that it is feasible for screening in twin pregnancies.

Maternal serum alpha-fetoprotein and free beta-human chorionic gonadotropin in the second trimester: implication for high risk of down’s syndrome in the ghanaian population

Maternal serum screening during pregnancy for adverse changes in levels of alpha-fetoprotein (AFP) and free beta- Human Chorionic Gonadotropin (free β-HCG) in the second trimester to assess risk of Down’s syndrome (DS) is a rare obstetric practice in Ghana. The aim of this study was to determine changes in the levels of these markers, and assess for risk of DS and adverse pregnancy outcomes in the Ghanaian population. Levels of AFP and free β-HCG were determined in maternal serum samples from eighty one women with singleton pregnancy collected at recruitment (12-13 gestational weeks), and in the second trimester (16 gestational weeks). AFP and free β-HCG markers were expressed in multiples of the normal median (MoM) for gestation. Delivery outcomes and features of the new born at delivery were also noted. The mean age of subjects at recruitment was 33.9±3.2 years. AFP levels at recruitment and in the second trimester were 18.8 ± 7.5 ng/ml (mean ± SD) and 30.9 ± 9.8 ng/ml (mean ± SD) respectively. Similarly, free β-HCG at recruitment and in the second trimester were 47.2 ± 12.2 ng/ml (mean ± SD) and 29.8 ± 11.3 ng/ml (mean ± SD) respectively. The differences in the serum levels of AFP and free β-HCG between the first and second trimesters were significant (p<0.0001: 95% CI -14.9-(-9.3) and p<0.0001: 95% CI 13.6-21.2). Whilst the AFP level did not correlate with weight, free β-HCG weakly correlated with maternal weight (p=0.29 and r 2 =0.017; p=0.08 and r 2 =0.055 respectively), but not age in the second trimester. There were no cases of DS observed in the study population. The mean concentrations of free β-HCG in adverse pregnancies were higher than in normal pregnancies (38.4 ± 6.6; 29.3 ± 10.6) but not for AFP (p=0.059, and p=0.477 respectively). Although no DS was seen for comparison, free b-HCG appears to be a useful marker for risk assessments of poor pregnancy outcomes in the population.

OP35.10: What do pregnant couples want? The preferences of pregnant couples at increased risk for Down's syndrome who are offered a choice in prenatal diagnosis between the clinical outcomes of 5 Mb and 0,5 Mb whole genome SNP array analysis

<scp>OP</scp>35.10: What do pregnant couples want? The preferences of pregnant couples at increased risk for Down's syndrome who are offered a choice in prenatal diagnosis between the clinical outcomes of 5 Mb and 0,5 Mb whole genome <scp>SNP</scp> array analysis

Young maternal age and old paternal age induce similar risk of mental disorders in offspring

There is robust evidence of an increased risk for autism, schizophrenia and learning disabilities in children born to older fathers, and an increased risk for Down's syndrome in children born...

PFM.19 Trisomy 18 and 13 screening changes in Scotland

All women in Scotland are offered first trimester screening combining ultrasound nuchal translucency measurement and free ßhCG and PAPPA-A levels to calculate their risk for Down’s syndrome. Second trimester screening...

Second trimester maternal serum inhibin-A in fetal anemia secondary to hemoglobin Bart’s disease

Objective: To compare the levels of inhibin-A between pregnancies with fetal anemia secondary to Hb Bart’s disease and pregnancies with normal non-anemic fetuses.Methods: Sixty-five pregnancies at risk of fetal Hb Bart’s disease scheduled for cordocentesis at 18–22 weeks were prospectively recruited into the study. Inhibin-A levels were measured from maternal blood drawn before cordocentesis. Fetal blood samples were collected for fetal Hb typing and hemoglobin (Hb) levels.Results: Maternal serum inhibin-A was significantly higher in women with fetal Hb Bart’s disease than those with unaffected fetuses (1.03 MoM (multiple of median) and 0.75 MoM, respectively, p = 0.001). The relationship between maternal serum inhibin-A and fetal Hb level was a quadratic equation; inhibin-A = 5.248 – 9.415(Hb) + 4.919(Hb)2 (r2 = 0.274, p < 0.001). Maternal serum inhibin-A did not correlate with cardiomegaly but was significantly associated with placental thickness; inhibin-A = 1.372 – 0.751(Pl) + 0.214(Pl)2 (r2 = 0.237, p = 0.007).Conclusions: Maternal serum inhibin-A levels were significantly higher in pregnancies with fetal Hb Bart’s disease. The elevation of inhibin-A was likely to be a consequence of fetal anemia and placentomegaly. Since inhibin-A is commonly used as a component of quadruple test; the calculated risk of Down’s syndrome may be unreliable in pregnancies with fetal Hb Bart’s disease or possible fetal anemia.

Estudio sobre las concentraciones sèricas de vitamina B12 y ácido fólico en el primer trimestrede embarazo en el Complejo Hospitalario de Jaén

IntroductionAdequate levels of vitamin B12 and folic acid during the first trimester of pregnancy is very important for the proper development of the foetus. A deficiency of these vitamins causes neural tube defects in the foetus, as well as having other effects. Therefore, these vitamins are supplemented during the first trimester of pregnancy due to increasing needs. MethodsAccording to the Integrated Care Process of pregnancy and childbirth of Andalusian Health Service, chemoprophylaxis of 0.4mg/day of folic acid is indicated until the 12th week of pregnancy to prevent neural tube defects. Are more studies needed to determine if this dose should now be modified? Does age of the mother have an effect on the dose of folate to take?Furthermore, in the tenth week of pregnancy Jaen Hospital tests for the prenatal risk of Down's syndrome, including chromosomal abnormalities, on all pregnant women in its catchment area. Do we know how the levels of folate and B12 in early pregnancy in our area? Are there differences regarding the age of the pregnant woman? ResultsAccording to our results the majority of pregnant women in our study have vitamin B12 and folic acid levels in the blood below that recommended, 82 and 70%, respectively. There are no differences in the ages of the pregnant women.