Abnormal renal function as a cause of false-positive biochemical screening for Down's syndrome.
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Chorionic Gonadotropin, beta Subunit, Human↗
Biomedical subjects
A Fortuny
Publications and source records attributed to A Fortuny.
Brachycephaly is ineffective for detection of Down syndrome in early midtrimester fetuses.
The aim of this study was to assess the value of fetal brachycephaly in the detection of Down syndrome at 13-18 weeks of pregnancy. The cephalic index (CI) was determined in 555 consecutive chromosomally normal fetuses, and in 38 chromosomal abnormalities, prior to amniocentesis. A CI > 0.85 was observed in 14% (2/14) of the fetuses with Down syndrome and in 11% of the normal fetuses. In conclusion, our data show that brachycephaly is not a useful marker for Down syndrome in early midtrimester fetuses.
Adolescent↗
Umbilical Doppler velocimetry in fetuses with trisomy 18 at 10-18 weeks' gestation.
The aim of our study was to obtain measurements of the umbilical artery pulsatility index (PI) in pregnancies before invasive procedures for prenatal diagnosis, in order to investigate its potential prognostic value in predicting trisomy 18. We performed a prospective study including 1785 consecutive women from 10 to 18 weeks with singleton pregnancies undergoing chorionic villus sampling (n = 559) or genetic amniocentesis (n = 1226) in our unit. Doppler measurements were performed transvaginally (tenth to 13th week of gestation) or transabdominally (14th to 18th week of gestation) immediately before the invasive procedure. In 7 out of 10 fetuses subsequently diagnosed as trisomy 18, the PI was above the 95th centile, providing a detection rate of 70 per cent, a specificity of 95.1 per cent, a positive predictive value of 7.7 per cent, and a negative predictive value of 99.8 per cent. When the 90th percentile was assayed as a cut-off, the efficacy of PI as a marker of trisomy 18 yielded a sensitivity of 90 per cent and a specificity of 90.4 per cent, with a positive predictive value of 5.2 per cent and a negative predictive value of 99.9 per cent. We suggest that although the use of a single PI measurement for screening purposes needs to be confirmed by further investigation, trisomy 18 fetuses show an abnormal increase in umbilical PI in the first half of pregnancy, and its relation to the early onset of fetal growth retardation needs to be further explored.
Blood Flow Velocity↗
Gonadotropin-releasing hormone analog plus an oral contraceptive containing desogestrel in women with severe hirsutism: effects on hair, bone, and hormone profile after 1-year use.
To evaluate the usefulness of D-Trp-6-luteinizing hormone-releasing hormone (LHRH) (triptorelin), a gonadotropin-releasing hormone (GnRH) analog (GnRHa), plus an oral contraceptive (OC) in the treatment of severe hirsutism, a total of 48 women between 19 and 35 years of age suffering from polycystic ovary syndrome (PCOS) with severe hirsutism were studied. Hyperandrogenism of adrenal origin was excluded in all subjects. Twenty-three patients received 3.75 mg D-Trp-6-LHRH intramuscularly monthly for 1 year plus an OC containing 30 micrograms ethinyl-estradiol and 150 micrograms desogestrel. A second group of 25 subjects received an OC containing 35 micrograms ethinyl-estradiol and 2 mg cyproterone acetate (CPA). Immediately before and after months 6 and 12 of therapy, bone mineral density (BMD) and Ferriman-Gallwey scores were evaluated and follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E2), prolactin (PRL), testosterone (T), androstenedione (A), dehydroepiandrosterone sulfate (DHEAS), 17-OH-progesterone (17-OHP), and sex hormone-binding globulin (SHBG) were determined. After 1 year of follow-up study, the combination of a GnRHa plus OC resulted in a decrease of hirsutism similar to that observed in the CPA group (41.9% v 40.5%) and in a suppression of gonadotropins and ovarian steroids in all treated women, without significant changes in bone density. The GnRHa-OC combination can potentially be used in the treatment of hirsutism and hyperandrogenism.
Adult↗
Interobserver variability of midtrimester fetal nuchal thickness.
OBJECTIVE: To assess the interobserver variability of ultrasound measured fetal nuchal thickness (NT). STUDY DESIGN: NT was measured in 103 consecutive early midtrimester pregnancies (13-18 weeks) by three ultrasonographists with different levels of expertise, in our Prenatal Unit. Measurements were obtained prior to amniocentesis, blindly in relation to other examiners' values. The Lin's concordance correlation coefficient and the Kappa statistics were used to assess concordance between observed values. RESULTS: Mean differences between pairs of observers ranged from 0.44 to 0.57 mm. A higher concordance correlation between measurements was obtained between the more experienced observers (r = 0.77 versus r = 0.51). When assigning cases with a NT > or = 5 mm to a group at risk for Down's syndrome, a high concordance between experienced ultrasonographists was observed (98% agreement; kappa = 0.90). CONCLUSIONS: Interobserver variability in NT was acceptable between experienced ultrasonographists.
Adult↗
Prenatal diagnosis: a plea for multidisciplinarity, education and training.
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Education, Medical↗
Combining nuchal translucency with umbilical Doppler velocimetry for detecting fetal trisomies in the first trimester of pregnancy.
OBJECTIVE: The aim of our study was to evaluate whether the combined use of umbilical artery pulsatility index (UAPI) and nuchal translucency (NT) measurements would be useful in the prediction of fetal chromosomal abnormalities at 10 to 13 weeks of gestation. DESIGN: A prospective study. POPULATION AND METHODS: Five hundred and fifty-three consecutive women with singleton pregnancies between 10 and 13 weeks of gestation, who underwent chorionic villus sampling at our institution. UAPI and fetal NT thickness were measured immediately before the invasive procedure. Pregnancies in which structural malformations had been detected by ultrasound were excluded. RESULTS: Using the 95th centile and 3 mm as the cutoffs for UAPI and NT, respectively, the detection rate for all chromosomal anomalies was 84.2%, with a false positive rate (1-specificity) of 6.6%, a positive predictive value of 31.3%, and a negative predictive value of 99.4%. Out of the 553 tested pregnancies 502 had both parameters within the normal range and only three of them (0.6%) were chromosomally abnormal; in six of the eight cases (75%) in which both parameters were abnormal a chromosome anomaly was present. Of the 43 cases in which only one parameter was abnormal, 10 were chromosomally abnormal (23.2%). CONCLUSIONS: Our results suggest that the presence of chromosomal anomalies may be strongly suspected when an increased NT thickness (NT > or = 3 mm) is associated with an abnormally high UAPI at 10 to 13 weeks of gestation. The number of cases studied is small, however, and these conclusions are tentative and preliminary. The value of a single measurement of NT and UAPI for screening purposes needs to be substantiated by further investigation.
Adult↗
Criteria for fetal nuchal thickness cut-off: a re-evaluation.
An attempt has been made to establish a more effective cut-off criterion for nuchal thickness (NT) and to assess the optimal gestational period for the prediction of trisomies 21 and 18. Reference intervals were established for NT from the tenth to the 18th week, using either gestation-specific centiles or the parametric method. The measurements in 47 consecutive trisomy 21 and 18 trisomy 18 cases were plotted against these intervals. Assaying different cut-off criteria for both the centile and the parametric methods, sensitivities and false-positive rates for each gestational week were calculated and then compared with the commonly applied 'two-stepped' cut-off method (3 mm early, 6 mm later). The parametric method, based on a progressive rise, with +2.5 SD for the corresponding gestational week as a cut-off value, showed the best performance (likelihood ratio 38) in the prediction for trisomy 21. The optimal gestational age was the 12-18 week period, with an overall sensitivity of 62 per cent (23/37) for an average false-positive rate of 0.7 per cent. For trisomy 18, the most effective cut-off was also +2.5 SD, and 10-13 gestational weeks as the optimal period, achieving 86 per cent (6/7) sensitivity for a 1.9 per cent false-positive rate.
Chromosome Aberrations↗
Doppler assessment of umbilical flow after genetic amniocentesis.
The aim of our study was to evaluate the immediate changes on the fetal heart rate (FHR) and the fetal umbilical artery pulsatility index (UPI) after performing genetic amniocentesis. This was a prospective study including 431 consecutive singleton pregnancies between 14 and 18 weeks undergoing genetic amniocentesis in our institution. Doppler measurements were obtained transabdominally before and immediately after the procedure. Structural malformations detected by ultrasound were excluded. Student's t-test was performed for comparisons among different groups and observed mean changes. The results showed a significant decrease in FHR post-amniocentesis (mean 1.5 beats, t = 3.47, P < 0.01) and a non-significant elevation in UPI (mean -0.01, t = -0.29, P = 0.77) after the procedure. Differences in FHR could be found when analyzed by each gestational week. These preliminary data suggest that although acute fetal hemodynamic changes are detected after genetic amniocentesis, such changes are unlikely to have clinical relevance. However, it is reasonable to propose the use of Doppler as a method of assessing hemodynamic effects caused by prenatal invasive procedures in order to provide more accurate in vivo research on this issue.
Adult↗
Immediate changes in umbilical blood flow after transcervical chorionic villus sampling performed by biopsy forceps.
Transvaginal ultrasonography with colour Doppler was used to evaluate the immediate changes on the fetal heart rate (FHR) and the fetal umbilical artery pulsatility index (PI) after chorionic villus sampling (CVS). This prospective study included 279 consecutive singleton pregnancies, between 10 and 13 weeks, of women who underwent transcervical CVS in our institution. All Doppler measurements were obtained transvaginally before and immediately after CVS. Structural malformations detected by ultrasound were excluded. Student's t- and Wilcoxon texts were performed for statistical analysis. The results showed no significant decrease in FHR (mean 1.04 beats, t = 1.68, P = 0.94) and a significant elevation of umbilical artery PI (mean 0.12, t = - 6.51, P < 0.001) post-CVS. This difference was only significant in procedures performed at less than 11 weeks' gestation, since there was no significant change for those procedures performed thereafter. These preliminary data suggest that acute fetal haemodynamic changes are induced by CVS and may have clinical effects. Hypotheses on possible vascular mechanisms are discussed. Colour Doppler could widen the possibilities for more accurate in vivo assessment and research on CVS-related placental injury.
Abortion, Spontaneous↗
First-trimester biochemical screening for Down syndrome with the use of PAPP-A, AFP, and beta-hCG.
Biochemical screening for Down syndrome (DS) is well established in the second trimester of pregnancy, but there is little information available on its value in the first trimester. This study describes our preliminary results with biochemical screening for DS in the first trimester of pregnancy in order to evaluate its efficacy at this time. Our study population, including 19 DS pregnancies, was evaluated using maternal serum levels of alpha-fetoprotein (AFP), beta-human chorionic gonadotropin (beta-hCG), and pregnancy-associated plasma protein A (PAPP-A). At a false positive rate (FPR) of 5 per cent, the detection rate (DR) for DS is 9 per cent for beta-hCG, 18 per cent for AFP, and 66 per cent for PAPP-A when considering these parameters individually. With different combinations of the analytes, the best detection rates are obtained with the association of PAPP-A and AFP (85 and 82 per cent DR for a 10 and 5 per cent FPR, respectively). Our data support the value of first-trimester biochemical screening for DS and that of PAPP-A as a single marker.
Adult↗
Ultrasound dating in first-trimester biochemical screening for Down syndrome.
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Aneuploidy↗
Fetal heart rate patterns in pregnancies with chromosomal disorders or subsequent fetal loss.
OBJECTIVE: To evaluate whether an abnormal fetal heart rate (FHR) is associated with chromosomal abnormalities in pregnant women undergoing an invasive procedure for prenatal diagnosis, and to investigate an abnormal FHR's potential value in predicting fetal loss in chromosomally normal pregnancies after the procedure. METHODS: This was a prospective study including 867 women, all consecutive singleton pregnancies at 10-18 weeks' gestation, who underwent chorionic villus sampling (n = 371) or genetic amniocentesis (n = 496) at our institution. Fetal heart rate, expressed as beats per minute, was measured before the invasive procedure. Structural malformations detected by ultrasound were excluded. RESULTS: Chromosomal abnormalities were diagnosed in 25 fetuses, including 11 with trisomy 21. In ten of 25 fetuses with chromosomal abnormalities, the FHR was between the fifth and 95th percentiles established before the procedure for the chromosomally normal group with normal outcome. Using the fifth percentile as a cutoff for trisomy 21, the detection rate was 63.6%, with a specificity of 96.2% and a positive predictive value of 17.9% (one in 5.5) in our population. Moreover, in six of the ten chromosomally normal miscarriages occurring within 4 weeks after the procedure, the FHR was above the 95th percentile. CONCLUSION: Although the value of a single measurement for screening purposes needs to be confirmed by further investigation, our preliminary data suggest that chromosomal anomalies, especially trisomy 21, may be suspected in fetuses with an abnormally low FHR in early pregnancy. In chromosomally normal fetuses, the detection of an abnormally high FHR in some degree may be predictive of fetal loss after the invasive procedure.
Adult↗
The effect of hormone replacement therapy on bone mass in patients with ovarian failure due to bone marrow transplantation.
BACKGROUND: Long permanent remissions in malignant hematopoietic disorders can often be achieved by autologous bone marrow transplantation (ABMT) or by allogenic bone marrow transplantation (BMT). Previous studies have shown that such therapies may induce osteoporosis due to iatrogenic ovarian failure. The administration of hormone replacement therapy (HRT) in these women could prevent the adverse effects of long-term ovarian failure without remarkable side effects. The aim of this study was to evaluate how the bone mass is affected by HRT in patients undergoing ABMT or BMT adjusting the results for age, weight, and height. SUBJECTS AND METHODS: Thirteen women with previous ABMT/BMT were treated with a standard dose (0.625 mg/day) of conjugated equine estrogen (CEE) or with 50 micrograms/day of 17-beta-estradiol in transdermal therapeutic systems (TTS) plus 5 mg/day of medroxyprogesterone acetate sequentially added to the last 12 days of estrogen therapy. Bone mass was measured prior to and 12 months following HRT. Blood samples were collected before therapy and during the 6th and 12th treatment months. RESULTS: The mean time elapsed between bone transplantation and HRT initiation was 13.0 months (range 3-26 months). Before treatment nine patients were osteopenic and after HRT bone mass increased in all cases. Following ABMT/BMT, hepatic hyperenzymemia was detected in three patients. After 6 and 12 months of treatment no significant changes were observed in hepatic enzymes. CONCLUSION: Although hepatic hyperenzymemia is commonly considered as a contraindication for HRT, our results suggest that HRT is safe for these patients and that such therapy should be initiated after transplantation in women to prevent adverse effects of long-term ovarian failure.
Administration, Cutaneous↗
Early midtrimester fetal nuchal thickness: effectiveness as a marker of Down syndrome.
OBJECTIVE: Our purpose was to assess the validity of nuchal thickness in the prediction of Down syndrome in early midtrimester fetuses. STUDY DESIGN: In 1543 consecutive pregnancies undergoing amniocentesis, primarily for advanced maternal age, nuchal thickness was prospectively measured between 13 and 18 weeks and then correlated with the karyotype obtained from amniotic fluid. RESULTS: With the cutoff value suggested in the literature (> or = 6 mm), 33.3% (6/18) of the cases of Down syndrome would be detected for a 0.1% (2/1424) false-positive rate, with a positive predictive value adjusted to a prevalence of Down syndrome in the general population of 1:3. To increase the sensitivity of the method, the threshold was lowered to 5 mm, achieving a sensitivity of 77.8% (14/18) for a 2.1% (30/1424) false-positive rate and an adjusted positive value of 1:19. CONCLUSIONS: In early midtrimester fetuses decreasing the nuchal thickness threshold to 5 mm substantially enhances the detection of Down syndrome with a reasonable false-positive rate.
Down Syndrome↗
Effects of a long-acting gonadotropin-releasing hormone analog on the pituitary-ovarian-adrenal axis in women with severe hirsutism.
We evaluated modifications in the pituitary-ovarian-adrenal axis in severely hirsute women after administration of the gonadotropin-releasing hormone analog (GnRHa), D-Trp-6-luteinizing hormone-releasing hormone (LHRH) (Triptorelin) in a prospective study at a tertiary hospital. A total of 20 hirsute women aged 19 to 38 years were included. Hyperandrogenism of adrenal origin was excluded in all subjects. Patients received 3.75 mg D-Trp-6-LHRH intramuscularly (Decapeptyl 3.75; Lasa-Ipsen, Barcelona, Spain). Serum levels of follicle-stimulating hormone (FSH), LH, estradiol (E2), prolactin (PRL), testosterone (T), androstenedione (delta 4 An), dehydroepiandrosterone sulfate (DHEAS), 17-OH-progesterone (17-OHP), and sex hormone-binding globulin (SHBG) were determined before GnRHa administration, 24 and 48 hours after, and on days 7, 15, 30, and 45. GnRHa suppresses FSH, LH, and E2 in all women. Unexpectedly, adrenal steroids showed a flare-up phenomenon in the first days and subsequent decrease to lower values than before GnRHa administration. SHBG showed slight changes. After GnRHa, patients showed a significant decrease in T and delta 4 An: these hormones were reduced to half the basal levels. We conclude that GnRHa can potentially be used in the treatment of hyperandrogenism to reduce androgen levels in hirsute women.
Adolescent↗
Menstrual history as a determinant of current bone density in young hirsute women.
There is evidence that bone mass is influenced by estrogen, declining in situations characterized by a decrease in the production of this hormone. Usually, amenorrhea and oligomenorrhea are associated with a state of hypoestrogenism, and both situations are frequent in hirsute patients. The aim of the present study was to analyze the relationship between bone mass and menstrual cyclicity in hirsute women. A total of 52 nulliparous women complaining of hirsutism in various degrees with associated oligomenorrhea/amenorrhea (OA) in 27 cases and eumenorrhea in 25 were included in this study. Basal serum levels of follicle-stimulating hormone (FSH), luteinzing hormone (LH), estradiol-17beta (E2), prolactin (PRL), testosterone (T), androstenedione (A4) dehydroepiandrosterone sulfate (DHEAS), 17-hydroxyprogesterone (OHP), and SHBG were determined, and the area under the curve (AUC) for E2 was plotted. Bone mineral density (BMD) was assessed by dual-energy x-ray absorptiometry (DEXA). The mean age for eumenorrheic patients was 26 years (range, 17 to 31), and for OA patients, 24 (range, 16 to 29). Both groups had similar Ferriman-Gallwey scores. Basal levels of PRL, LH, FSH, E2, T, A4, OHP, and DHEAS were similar for eumenorrheic and OA patients. The AUC for E2 was significantly higher for eumenorrheic patients, and DEXA at the lumbar spine demonstrated a significant difference between eumenorrheic (1.222 +/- 0.240 g/cm2) and OA (1.016 +/- 0.108 g/cm2) hirsute women (P < .01). In conclusion, OA, due to a relative hypoestrogenism, may be correlated with osteopenia in young hirsute women.
Absorptiometry, Photon↗
Transcervical chorionic villus sampling beyond 12 weeks of gestation.
The aim of this study was to evaluate the feasibility of transcervical chorionic villus sampling (CVS) after 12 completed weeks of pregnancy. The transcervical route for CVS, using thin biopsy forceps, was accomplished in 335 procedures in the study group, between 12 + 1 and 15 + 0 weeks. Cases were subdivided into two subgroups, the late (13 + 0 to 15 + 0 weeks) and intermediate (12 + 1 and 12 + 6 weeks) subgroups, and the results were compared with a previous series of 1202 early (8 + 0-12 + 0 weeks) transcervical CVS. A successful diagnosis was made in 97.3% of the cases. No differences were found in diagnostic success between the study subgroups, in comparison to the early transcervical CVS series. However, success rates in the study group increased from 90% in the first 60 procedures to 98.9% in the remaining cases (p < 0.001). Amniocentesis was eventually performed in nine cases (2.7%). All cases were rescanned 2 weeks after the procedure, and fetal demise was detected in five cases (1.5%). The spontaneous fetal loss rate up to 28 weeks was 3.1% (2.7% for intermediate and 4.0% for late subgroups). No cases of transverse limb reduction defects were observed. The results of our study suggest that the transcervical route for CVS beyond the 12th week of pregnancy has a satisfactory diagnostic success rate, and an acceptable pregnancy loss rate.
Adult↗