beta-hCG Concentrations Research Articles

A rare primary thyroid mixed germ cell tumour: a case report

Germ cell tumours mostly occur in the gonads. Extragonadal site is rare and mainly located in the mediastinum, retroperitoneum and pineal gland. Germ cell tumour that occurs in the thyroid gland is extremely rare. We present our first description of a patient with a mixed germ cell tumour located primarily in the thyroid gland. A 35 years old gentleman presented with two months history of thyroid swelling associated with compressive symptoms. His neck ultrasound showed multinodular goiter with suspicious nodule (TR4) and FNAC revealed highly suggestive of a malignant lesion. Subsequently, the thyroid mass progressively enlarged in size causing acute upper airway obstruction that made him collapsed at Emergency Department. Core biopsy of TR4 thyroid nodule suggestive of malignant lesion which could be mixed germ cell tumour or poorly differentiated carcinoma. Abnormal laboratory tests showed a high concentration of LDH, Alpha fetoprotein and beta-HCG. He underwent emergency total thyroidectomy, debulking and tracheostomy. Histopathology reported the mass composed of mixed non-seminomatous germ cell tumour with area of necrosis (30%), primarily immature elements (80%), yolk sac tumour (15%) and embryonal carcinoma (5%). He was scheduled for chemotherapy post operatively however he succumbed to the illness due to advanced tumour and sepsis.

First-Trimester Biochemical Serum Markers in Female Kidney Transplant Recipients-The Impact of Graft Function.

Data on serum biochemistry markers as a component of the first-trimester screening test in pregnant kidney graft recipients are limited. In the absence of a separate validated algorithm, biochemical testing is commonly used in the first-trimester screening in kidney transplant recipients. Therefore, the study aimed to analyze first-trimester serum biochemical markers and the first trimester combined screening results in pregnant kidney graft recipients. A retrospective study was carried out in pregnant women who underwent the first-trimester combined screening test performed per the Fetal Medicine Foundation (FMF) protocol in 2009−2020. The study group included 27 pregnancies in kidney graft transplant recipients, and the control group was 110 patients with normal kidney function, matched according to age, body mass index (BMI), and gestational age. The biochemical serum markers (free beta-human chorionic gonadotropin [beta-hCG] and pregnancy-associated plasma protein A [PAPP-A]) were evaluated using the FMF-approved Roche Elecsys® assay and exhibited as multiples of the median (MoM) values. Data on first-trimester screening test results, perinatal outcomes, and graft function (assessed using serum creatinine concentrations) were analyzed. The analysis of first-trimester screening parameters revealed no difference in nuchal translucency (NT) measurements and uterine artery flow. However, free beta-hCG MoM and PAPP-A values were higher in posttransplant pregnancies than in controls: 3.47 ± 2.08 vs. 1.38 ± 0.85 (p = 0.035) and 1.46 ± 0.81 vs. 0.98 ± 0.57 (p = 0.007), respectively. The false positive rate of trisomy 21 (T21) screening in graft recipients was 25.9% vs. 3% in the controls. The free β-hCG MoM values positively correlated with serum creatinine levels before (r = 0.653; p < 0.001), during (r = 0.619; p = 0.001), and after pregnancy (r = 0.697; p < 0.001). There was a statistically significant negative correlation for PAPP-A MoM values for postpartum serum creatinine concentration (r = −0.424, p = 0.035). Our results show significantly higher serum concentrations of free beta-hCG and PAPP-A in posttransplant pregnancies than in healthy controls, confirmed when exhibited as MoM values and their association with graft function was assessed by serum creatinine concentration. Taking those changes into account would reduce the high number of false positive test results in this group. The validated first-trimester screening algorithm that considers altered kidney function in pregnant kidney graft recipients remains to be developed.

The predictive significance of serum cystatin C and free sub unit of β-Human chorionic gonadotropin in pregnant women with preeclampsia in Lagos

Background: Preeclampsia (PE) is a multi-systemic progressive disorder that is unique to human pregnancy, occurring usually after 20 weeks of gestation. Useful biochemical markers to be utilized for early prediction of preeclampsia continue to elude us. The search for biomarkers is aimed identifying women at increased risk of developing PE, so that medical interventions may be instituted very early in pregnancy to ameliorate its occurrence and improve maternal and fetal outcome. Aim: This study aimed to determine the association between serum levels of Cystatin C and/or free β-subunit of hCG measured in early pregnancy and the development of pre-eclampsia and its severity. Methods: This was a prospective cohort study of 290 pregnant women recruited during routine antenatal care, at the gestational age of between 13 and 19 weeks. After obtaining an informed consent from each participant, a structured questionnaire was used to collection relevant information followed by the collection of 5 mL of venous blood sample. Serum cystatin C and free sub unit of β-hCG levels were determined by standard enzyme-linked immunosorbent assay (ELISA) method. All participants were followed up till delivery and those who developed preeclampsia was classified as mild and severe preeclampsia. Data were entered and analyzed using STATA version 16 statistical software. Hypothesis testing was done using chi-square test for categorical variables, and the independent-samples t-test and ANOVA for numerical variables. Results: We found significantly elevated serum levels of cystatin C and free subunit of β-hCG in women who developed preeclampsia, (p &lt; 0.002 and 0.001) respectively. Conclusion: Our study has shown that in a healthy population of pregnant women that elevated serum levels of cystatin C and free beta hCG concentration measured in early second trimester were associated with an increased risk of developing preeclampsia and its severity. This suggests that the combination of these analytes may have a role as a marker of pre-eclampsia and its severity especially when used in combination.

Factors that may interfere in estradiol-progesterone plasmatic concentration in the mid-luteal phase of hyperstimulated cycles for IVF/ICSI

Research question: We have demonstrated that plasmatic estradiol in mid-luteal phasel has prognostic value for clinical and ongoing pregnancy rate. This study investigated the possible factors that could interfere in the value of estradiol-progesterone in the mid luteal phase of cycles of IVF/ICSI Design: Retrospective study, including patients ≤39years old and with dosage of estradiol-progesterone and beta hCG 6-7 days after fresh embryo transfer and the influence of several factors or variables upon these hormones. Results: Of 189 cycles of IVF/ICSI with complete hormonal evaluation in mid-luteal phase, we studied the probably influence of ten factors upon plasmatic concentration of estradiol-progesterone. Only four factors had significant influence. Of them, the most important variable was beta hCG concentration (consequence of trophoblastic mass and number of implanted embryos), followed for number collected oocytes, and of litlle importance, scheme of final maturation with luteal phase correction (did not reach statistical difference), and day of transfer. Conclusion: The estradiol-progesterone in the mid-luteal phase, in this research, were influenced by hCG, number of collected oocytes, scheme for final maturation, but the main influence factor was the beta hCG concentration, although not had been a good correlation coefficient between these hormones, due to a large difference in the their concentrations, as seen in the high values observed on the Standard Deviation. The high percentages of clinical and ongoing pregnancies in the ≥500g/ml group, were the result of higher beta hCG levels, due to the larger number of twin pregnancy in this group.

Beta-HCG Concentration in Vaginal Fluid: Used as a Diagnostic Biochemical Marker for Preterm Premature Rupture of Membrane in Suspected Cases and Its Correlation with Onset of Labour.

To evaluate β-hCG concentration in vaginal fluid as a biochemical marker for PPROM in suspected cases and its correlation with onset of labour. This is a prospective case-control study carried out in tertiary care centre in 1year. Total 150 pregnant women of gestational age 28-36week + 6days were included and were divided into two groups: control (Group 1) (n = 50) normal antenatal patients. Group 2 cases with history of leaking per vaginum subdivided into two groups-Group 2A-(n = 50) with no detectable leakage of amniotic fluid present on per speculum examination and Group 2B-(n = 50) with minimal leaking per vaginum present upon per speculum examination (frank leaking were excluded). β-hCG level was measured by chemiluminescent microparticle assay, and all women were followed till onset of labour. Mean β-hCG level in vaginal fluid was measured as 6.10 ± 8.52 mIU/mL, 57.10 ± 30.86 mIU/mL and 111.35 ± 36.01 mIU/mL in Group 1, Group 2A and Group 2B, respectively. By taking 21.5 mIU/ml as cut-off, receiver operating characteristic curve shows sensitivity 100%, specificity 92.0%, positive predictive value 92.6%, negative predictive value 100% and diagnostic accuracy 96%. Regarding the correlation of β-hCG level with onset of labour if the β-hCG level is < 21.5 mIU/ml, 100% pregnancy continued beyond 4weeks and 56% women delivered within 4weeks when β-hCG level is > 75 mIU/ml. β-hCG in vaginal fluid is a reliable biochemical marker for diagnosing suspected cases of PPROM and is well correlated with onset of labour.

Physical resolution of tubal ectopic pregnancy on ultrasound imaging following successful expectant management.

What is the time required for complete physical resolution of tubal ectopic pregnancies diagnosed on ultrasound imaging in women undergoing successful expectant management? A prospective observational cohort study of 177 women who had successful expectant management of tubal ectopic pregnancy, who attended a single Early Pregnancy Unit between January 2014 and December 2018. All participants were monitored until their serum beta-human chorionic gonadotrophin (beta-HCG) dropped to non-pregnant concentrations and with 2-weekly follow-up ultrasound scans until resolution of the pregnancy. A total of 112/177 (63.3%, 95% confidence interval [CI] 55.7-70.4) of tubal ectopic pregnancies were indiscernible on ultrasound 2 weeks after serum beta-HCG had returned to non-pregnant concentrations. In 8/177 (4.5%, 95% CI 2.0-8.7), physical resolution took longer than 78 days. There was a positive correlation between biochemical and physical resolution of tubal ectopic pregnancy (r = 0.21, P = 0.006). Physical resolution of tubal ectopic pregnancy is often prolonged and is positively correlated with initial and maximum beta-HCG concentrations. Results of this study indicate that beta-HCG resolution cannot be used as the end-point of expectant management of tubal ectopic pregnancy, which should be considered when counselling women and planning for future pregnancies.

Multivariate analysis of laparoscopic conservative surgery for persistent ectopic pregnancy after tubal pregnancy

Objective To investigate the influencing factors of persistent ectopic pregnancy (PEP) after laparoscopic conservative surgery for tubal pregnancy. Methods Three hundred and one cases of tubal pregnancy treated by laparoscopic conservative surgery in Jizhong energy Fengfeng Group Hospital from October 2007 to October 2017 were divided into PEP group (21 cases) and non PEP group (280 cases) according to whether PEP occurred after operation.The age, menopause time and preoperative serum of the two groups were analyzed.The levels of beta-human chorionic gonadotropin (beta-hCG), surgical methods, corpus luteum exfoliation, methotrexate and mass diameter were analyzed.Logistic regression was used to analyze the multiple factors. Results There was no significant difference in age between the two groups.There were significant differences in the time of menopause, preoperative serum beta-hCG level, operative methods, corpus luteum exfoliation, methotrexate application and mass diameter between the two groups (P<0.05 or P<0.01). Multivariate logistic regression analysis showed that short menopause time, high preoperative serum beta-hCG concentration, sac extrusion at the umbrella end of fallopian tube, no corpus luteum exfoliation, no intraoperative methotrexate and small mass diameter were risk factors for persistent ectopic pregnancy (OR(95%CI) were 1.476 (1.035~3.961), 1.513 (1.391~3.017), 5.301 (1.304~19.570), 1.104 (1.015~2.769), 1.180 (1.020~2.543), 1.540 (1.181~5.120), respectively, all P<0.05). Conclusion PEP is prone to occur in patients with tubal pregnancy treated by laparoscopic conservative surgery, such as short menopause time, small size of mass, high preoperative serum beta-hCG concentration, no corpus luteum exfoliation, no local methotrexate and umbrella sac extrusion.Therefore, the key measures to reduce the occurrence of PEP in clinic are to choose the right operation time, appropriate operation method, corpus luteum exfoliation and local injection of methotrexate. Key words: Persistent ectopic pregnancy; Tubal pregnancy; Laparoscopy; Conservative surgery; Beta-human chorionic gonadotropin; Corpus luteum removal; Methotrexate

How to correct the impact of ethnicity on effectiveness of the second trimester maternal serum screen of fetal Down syndrome?

Objectives: To compare the performance of second trimester maternal serum screen (MSS) for fetal Down syndrome in Thai population between the conventional method using Caucasian reference ranges with ethnic factor correction (CRR-EC) and the method using specific Thai reference ranges (TRRs).Methods: A prospective database of the MSS project was accessed. The concentrations of alpha fetoprotein (AFP), beta-hCG, and uE3 were converted to their multiple of medians (MoMs) by two methods; CRR-EC for Asian women and TRR. The detection rate and false positive rate derived from the two methods were compared.Results: Of 20,229 cases, 35 women had fetal Down syndrome. The detection rates of both methods were comparable, whereas the false-positive rate of TRR was significantly lower (8.8 versus 11.7%; p < .001). The improvement was mainly caused by more accuracy of the MoMs of beta-hCG, not AFP/uE3, based on TRR.Conclusions: The effectiveness of MSS could be improved by using our own reference ranges instead of using ethnic factor correction. With TRR, the false-positive rate or the number of invasive diagnoses could be significantly decreased without compromise of the detection rate. To improve MSS performance, each population should use its own reference ranges.

Influence of Weight of Pregnant Women on First Trimester Biochemical Markers Values

Values of first trimester biochemical markers (PAPP-A and free b-hCG) concentration are included in aneuploidies risk evaluation algorithm. Since both markers are produced by the fetus and placenta their concentration depends on the volume in which they are dissolved, respectively the weight of the pregnant women. Our study aimed to analyze the influence of maternal weight on first trimester biochemical markers concentration and the ability of the risk calculation software to correct this influence. Pregnancy-associated protein A (PAPP-A) and free � chorionic gonadotropin hormone (free � hCG) first trimester sera concentration respectively weight were measured in 1629 pregnant women. First trimester PAPP-A and free beta hCG concentrations inverse correlate with weight of pregnant women rho=-0.33, p[0.0001, respectively rho=-0.18, p[0.0001. Weight of pregnant women inversely correlates with multiple of median (MoM) values of first trimester markers too: rho=-0.38, p[0.0001 (PAPP-A), respectively rho=-0.17, p[0.0001 (free-b-hCG). The software counterbalances the influence of weight on biochemical markers values. PAPP-A corrected MoM (MoMc) values don�t inversely correlate with the weight (rho=-0.03, p=0.12), whereas free � hCG MoMc values showed an extremely weak inverse correlation (rho=-0.08, p=0.0008). The software counterbalances the influence of weight on PAPP-A values, whereas an extremely weak but insignificant inverse correlation between weight and free-beta hCG values persists after correction.

High oestradiol concentration after ovarian stimulation is associated with lower maternal serum beta-HCG concentration and neonatal birth weight

In this retrospective study, the relationship between maternal serum oestradiol and progesterone levels after fresh embryo transfer or frozen embryo transfer (FET), and serum beta-HCG levels in early pregnancy and neonatal birth weight was examined. Included for analysis were 5643 conceived singletons: 2610 after FET and 3033 after fresh embryo transfer. Outcome measures included maternal serum oestradiol, progesterone, beta-HCG levels during the peri-implantation period, birth weight and small-for-gestational-age (SGA). Results at 4, 5 and 6 weeks' gestation were as follows: serum oestradiol and progesterone levels were significantly higher in women who underwent fresh embryo transfer compared with FET (all P < 0.0001 except progesterone at 6 weeks; P = 0.009); for fresh embryo transfers, serum beta-HCG levels were significantly lower than in women who underwent FET (P < 0.0001); beta-HCG levels were negatively correlated with serum oestradiol; and birth weight was negatively correlated with serum oestradiol. Incidence of SGA in fresh embryo transfer was increased significantly compared with FET (P < 0.001). Higher maternal oestradiol levels after fresh embryo transfer was correlated with lower beta-HCG in early pregnancy, lower birth weight and higher incidence of SGA.

First trimester erythropoietin (EPO) serum concentration as a potential marker for abnormal placentation disorders. Reference values for erythropoietin (EPO) concentration at 11-13⁺⁶ weeks of gestation.

To investigate the possible effect of abnormal placentation disorders such as preeclampsia (PE), pregnancy induced hypertension (PIH) and intrauterine growth restriction (IUGR) on erythropoietin (EPO) serum concentration in women in the first trimester of pregnancy. A prospective study was performed in a group of pregnant women between 11 and 13⁺⁶ weeks' gestation. Serum concentration of EPO, beta HCG, PAPP-A and PlGF was measured. Mean arterial pressure (MAP) and uterine artery pulsatility index was calculated. A group of 198 analyzed patients was divided into three groups depending on pregnancy outcome: abnormal placentation group (n=30), macrosomia (n=13) and control group (n=155). EPO concentrations between the three groups of patients revealed that they differ significantly (F=15.172, P<0.001). EPO concentration is significantly higher in abnormal placentation patients compared to the control group (P<0.001) and macrosomia group (P=0.004). The most significant increase in EPO concentration was detected within patients with PIH. Also the uterine artery pulsatility index was positively correlated with EPO concentration (P<0.01). First-trimester maternal EPO concentration might be considered as a possible marker of abnormal placentation disorders and should be given more attention in future prospective studies.

Biochemical markers in screening for preeclampsia and intrauterine growth restriction.

The aim of the study was to evaluate the relationship between the concentrations of substances released by the placenta: placental growth factor (PIGF), pregnancy-associated plasma protein A (PAPP-A) and free beta-human chorionic gonadotropin (beta-hCG) and the risk of early and late preeclampsia (PE) and intrauterine fetal growth restriction (IUGR). A total of 180 pregnant women between 11+0 and 13+6 weeks gestation were recruited for a case-control study Twenty-two patients suffered from early PE, 29 patients from late PE. Data analyzed during the study included maternal histoty and concentrations of PAPP-A, PlGF beta-hCG. The multiple of the median (MoM) value of the PAPP-A concentrations was 1.01 in the control group (interquartile range (1QR), 0.65-1.55), 0.67 (1QR, 0.382-0.82) in the group of patients with early preeclampsia and 0.74 (IQ, 0.33-1.09) in the group of patients suffering from late preeclampsia. MoM value of the PIGF concentrations was 1.21 in the control group (IQR, 0.93-1.57), 0.62 (IQR, 0.51-0.96) in the group of patients with early preeclampsia and 0.92 (lQR, 0.63-1.09) in the group of patients suffering from late preeclampsia. MoM value of beta-hCG concentrations was 1.14 in the control group (IQR, 0.75-1.49), 1.08(IQR, 0.74-1.23) in the group of patients with early preeclampsia and 1,25(IQR, 1,05-1,49) in the group of patients suffering from late preeclampsia. The performance of screening was determined by the areas under the curve and detection rates, with a fixed false-positive rate of 10%. Decreased levels of PAPP-A and PIGF are related to an increased risk of preeclampsia and its complications.

Pregnancy rates with intrauterine insemination: comparing 1999 and 2010 World Health Organization semen analysis norms

Over the past 30 years, The World Health Organization has serially measured norms for human sperm. In this study, 1999 and 2010 semen analysis norms as predictors of pregnancy were compared during intrauterine insemination (IUI). A retrospective cohort study was conducted using data collected from the Stanford Fertility Center, between 2005 and 2007, with 981 couples undergoing 2231 IUI cycles. Collected semen was categorized according to total motile sperm counts (TMSC): ‘normal (N.) 1999 TMSC’, ‘abnormal (AbN.) 1999/N. 2010 TMSC’, or ‘AbN. 2010 TMSC’. Sample comparison was also based on individual semen parameters: ‘N. 1999 WHO’, ‘AbN. 1999/N. 2010 WHO’, or ‘AbN. 2010 WHO’. Pregnancy (defined by beta-HCG concentration) rates were calculated. Data were compared using correlation coefficients, t-tests and chi-squared tests, with and without adjusting for confounders. Pregnancy rate comparison based on TMSC (‘N. 1999 TMSC’, ‘AbN. 1999/N. 2010 TMSC’ and ‘AbN. 2010 TMSC’) showed a negative correlation (r = −0.41, P = 0.05). Pregnancy rate did not differ when comparisons were based on the presence of abnormal parameters, even when controlling for confounders. Therefore, TMSC based on the 1999 parameters shows best correlation with pregnancy rate for IUI; updating these norms in 2010 has little clinical implication in infertile populations.

Expressions of candidate molecules in the human fallopian tube and chorionic villi of tubal pregnancy exposed to levonorgestrel emergency contraception

BackgroundCases of ectopic pregnancy (EP) following levonorgestrel (LNG) emergency contraception (EC) failure were reported, however, the effects of LNG on tubal microenvironment or chorionic villi in EP have not yet been documented.MethodsFifty-five women with tubal pregnancy were divided into two groups according to whether LNG-EC was administrated during the cycle of conception. The serum concentrations of beta-hCG, E2 and P were measured. The mRNA and protein expressions of estrogen and progesterone receptors, leukemia inhibitory factor, vascular endothelial growth factor, inducible nitric oxide synthase, and endocannabinoid receptor - CB1 in the ectopic implantation site and chorionic villi were examined.ResultsCompared to those unexposed to LNG-EC, women with tubal pregnancy exposed to LNG-EC during the cycle of conception had no statistically significances in the serum concentrations of beta-hCG, E2 P, nor in the pathological types of tubal pregnancy or the expressions of ER-alpha, PR, LIF, VEGF, iNOS and CB1.ConclusionsThe expressions of candidate molecules in the fallopian tube and chorionic villi were not altered by exposure to LNG-EC. A routine therapy with no additional intervention might thus be applied to tubal pregnancy exposed to LNG-EC.

Endokrine Veränderungen bei einem jungen Patienten mit metastasiertem Tumorleiden - Fall 3/2013

We report on a 24-year-old male patient who presented with worsening of the general condition and abdominal pain. On physical examination, gynecomastia was noted. Laboratory tests showed manifest hyperthyroidism. The beta-hCG levels were markedly increased. By ultrasound, the thyroid gland was hyperperfused without thyroid nodules. Several large echo mixed lesions were found in the liver. The testes appeared normal. In light of the typical laboratory findings, a non-seminomatous extragonadal germ cell tumor was diagnosed. Hyperthyroidism was most probably HCG induced. Initially the patient was treated with thyreostatic drugs. After initiation of chemotherapy and a marked decrease in beta-hCG, thyreostatic therapy could be terminated. Germ cell tumors may cause an increase in beta-hCG concentration. By cross-reacting with the TSH-receptor this could induce hyperthyroidism. Germ cell tumors are therefore a rare differential diagnosis of hyperthyreoidism.

The chorionic bump associated with acrania – case report

The chorionic bump is a rare abnormality of the gestational sac, presenting as a convex bulge from the choriodecidual surface into the sac, correlated with poor prognosis for the pregnancy We report a case of a 36-year-old pregnant woman, with a history of spontaneous abortion, who presented for an early scan a 6 weeks and 4 days of gestation. The pregnancy was spontaneous and unplanned. The patient conceived in less than 3 months after discontinuing oral contraceptives. No folic acid was taken before or in the pregnancy An ultrasound scan revealed a chorionic bump with a hypoechoic center and echogenic border, measuring 18.3 x 14.7 x 21.9 mm. No motion within the chorionic bump was detected upon color and power Doppler examination. The second scan was performed a week later at 7+4 wks. The chorionic bump had not changed in terms of size and sonographic appearance. An acranial fetus of CRL 45.5 mm was diagnosed at 11 + 2 wks. The concentration of free beta-hCG was 17.2 IU/L, corresponding to 0.37 MoM and PAPP-A levels were 1.31 IU/L, corresponding to 0.82 MoM. After counseling the patient opted for termination of pregnancy Very few cases of chorionic bumps have been described so far and, to the best of our knowledge, its coexistence with neural tube defects has been reported for the first time. We postulate a possibility of an underlying pathological mechanism for such coexistence. The chorionic bump is a focal convex bulge with irregular borders, protruding from the choriodecidual surface into the gestational sac and with different degrees of echogenicity usually a hypoechoic middle and echogenic border The chorionic bump might represent the following: a hematoma, an area of hemorrhage, a non-embryonic gestation, or a demise of an embryo in a twin pregnancy The presence of the bump is associated with a four-fold increase in the spontaneous abortion rate as compared with the general population. Decreased folate levels increase the incidence of neural tube defects. Oxidative stress resulting from folic acid deficiency may be responsible for neural tube defects through impairment of factors inhibiting apoptosis in the neuroepithelium. Fetuses with neural tube defects are at an increased risk of being aborted spontaneously Furthermore, women who deliver children with neural tube defects frequently have a history of miscarriage. Our patient did not take any folic acid and also had a history of spontaneous miscarriage. In the case we herein presented, the coexistence of acrania and placental pathology could be attributed to folate deficiency Such coexistence is described for the first time and could be accidental, but there is possible theoretical association between these two pathologies.

Prenatal diagnosis of Down syndrome in dizygotic twin pregnancy

We present a case of a 33-year-old pregnant woman who had a transvaginal ultrasound performed at week 9 of gestation. A dichorionic diamniotic twin pregnancy with symmetrically developing fetuses, was confirmed. Chromosomal defect markers (NT NB, DV TV) were analyzed in the first genetic test, performed according to the Fetal Medicine Foundation (FMF) criteria, and the double marker test was performed (PAPP-A protein and free beta-hCG concentrations in patient serum were determined). In the subsequent diagnostic procedures, the patient was offered and consented to amniopuncture after week 15 of gestation. The material obtained in the course of that invasive procedure allowed to identify a normal male karyotype - 46, XY in the first fetus (Fetus I). Cytogenetic analysis of the material from the second fetus (Fetus II) resulted in the diagnosis of an abnormal female karyotype - 47, XX, +21. Based on the analyzed clinical case, we present the difficulties of performing prenatal diagnosis in a dizygotic twin pregnancy The results prove the applicability and efficacy of prenatal diagnostics tests based on the FMF criteria also in twin pregnancies.

A highly sensitive electrochemiluminescence immunoassay for detecting human embryonic human chorionic gonadotropin in spent embryo culture media during IVF-ET cycle

To investigate the stability and repeatability of electrochemiluminescence immunoassay (ECLIA) for beta-hCG detection in embryo spent culture media. To evaluate the correlation between the viability of preimplantation embryo and beta-hCG profile by the new assay. In a retrospective study, a total of 357 spent culture media from day1 to day5 were individually collected and quantified by ECLIA. The blank controls and reliability test were performed with normal saline/pure culture media. 1) There was no detectable amount of beta-hCG in blank controls. A high degree of linearity (R(2) = 0.995) was found in this study; intra-assay and inter-assay coefficient of variation were 4.87% and 6.25%. 2) A significantly higher concentration of beta-hCG was found at day5 group than it at day3 group, both in total samples (1.47 ± 0.68mIU/ml vs 0.55 ± 0.32mIU/ml) and in homologous embryo samples (1.43 ± 0.91mIU/ml vs 0.52 ± 0.23mIU/ml). 3) There was a positive correlation between beta-hCG concentration and implantation rate (r = 0.559 at day3 and 0.535 at day5) or blastocyst morphological grading (r = 0.411). ECLIA may be an optimal choice for detecting beta-hCG in spent culture media to assess embryo viability, indicating secreted beta-hCG as a useful biomarker for embryo selection in IVF-ET procedure.

Effect of temperature on free β‐human chorionic gonadotropin and pregnancy‐associated plasma protein‐A concentration

To examine the effect of the duration of storage of serum and whole blood at different controlled temperatures on the concentrations of both serum free-beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) in first-trimester screening for aneuploidies. The concentrations of free beta-hCG and PAPP-A were measured in samples collected from 10 pregnant women and stored as whole blood or serum for 1-8 days at 4, 20 or 40 degrees C. The concentrations measured were adjusted to take day-to-day variations into account and were expressed as a percentage of the values on day 0. In a second study involving 10 pregnant women, free beta-hCG was measured at 10 min and at 2, 4, 8 and 12 h after collection and storage at 30 or 40 degrees C, either as separated serum or as whole blood. The change in the levels of PAPP-A in the separated serum at all three temperatures and in whole blood at 4 degrees C was always less than 10% throughout the 8 days of storage. In whole blood stored at 20 and 40 degrees C, the percentage variation was less than 10% only if the storage period was shorter than 4 days. The concentration of free beta-hCG was not altered by storage of either whole blood or separated serum at 4 degrees C throughout the 8 days of storage. At 20 degrees C, reliable results were obtained only if the maximum storage time was 2 days for separated serum and 1 day for whole blood. At 30 degrees C, reliable results were obtained only if the samples were analyzed within 2 h of collection, and at 40 degrees C the concentrations increased by more than 50% within 2 h and by about 500% after 1 day of storage. In first-trimester screening for aneuploidies, analysis of blood samples should be undertaken within a few minutes of collection, otherwise the samples should be refrigerated at 4 degrees C throughout the interval between collection and analysis.

The significance of fetal maxillary length in the first trimester screening for trisomy 21

The present study aims to specify the significance of fetal maxillary length by establishing a nomogram for a Turkish population and by investigating its relationship with the ultrasonographic and biochemical parameters which are commonly used to screen trisomy 21 in the first trimester of pregnancy. The present observational study investigates 1,308 Turkish women who had 11- to 14-week-old singleton healthy pregnancies. Fetal crown-rump length (CRL), nuchal translucency (NT), nasal bone length (NBL) and maxillary length are measured by ultrasonography and maternal serum concentrations of pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotropin (HCG) are determined. A positive and significant correlation was detected between the fetal maxillary length and gestational age (r = 0.309, P < 0.001) as was the case with fetal CRL (r = 0.357, P < 0.001) and NBL (r = 0.487, P < 0.001). Although there was a significant and positive correlation between fetal maxillary length and maternal serum PAPP-A levels (r = 0.201, P < 0.001), a significant and negative correlation was found between fetal maxillary length and the maternal serum concentrations of free beta-HCG (r = -0.238, P < 0.001). Fetal maxillary length increased in accordance with the advancing gestational age and increasing CRL. Maternal serum PAPP-A concentrations and fetal CRL and NBL were addressed as independent predictors of fetal maxillary length. The length of fetal maxillary bone is a promising biometrical parameter which can be reliably and efficiently used to screen trisomy 21 in first trimester. Fetal maxillary length is also found to correlate with gestational age, CRL, NBL and PAPP-A significantly. It would be rational to use a combination of nasal and maxillary bone length measurements in case serum concentrations of PAPP-A or beta-HCG cannot be assessed.