Prediction of post-delivery hemoglobin levels with machine learning algorithms.

Predicting postpartum hemorrhage (PPH) before delivery is crucial for enhancing patient outcomes, enabling timely transfer and implementation of prophylactic therapies. We attempted to utilize machine learning (ML) using basic pre-labor clinical data and laboratory measurements to predict postpartum Hemoglobin (Hb) in non-complicated singleton pregnancies. The local databases of two academic care centers on patient delivery were incorporated into the current study. Patients with preexisting coagulopathy, traumatic cases, and allogenic blood transfusion were excluded from all analyses. The association of pre-delivery variables with 24-h post-delivery hemoglobin level was evaluated using feature selection with Elastic Net regression and Random Forest algorithms. A suite of ML algorithms was employed to predict post-delivery Hb levels. Out of 2051 pregnant women, 1974 were included in the final analysis. After data pre-processing and redundant variable removal, the top predictors selected via feature selection for predicting post-delivery Hb were parity (B: 0.09 [0.05-0.12]), gestational age, pre-delivery hemoglobin (B:0.83 [0.80-0.85]) and fibrinogen levels (B:0.01 [0.01-0.01]), and pre-labor platelet count (B*1000: 0.77 [0.30-1.23]). Among the trained algorithms, artificial neural network provided the most accurate model (Root mean squared error: 0.62), which was subsequently deployed as a web-based calculator: https://predictivecalculators.shinyapps.io/ANN-HB . The current study shows that ML models could be utilized as accurate predictors of indirect measures of PPH and can be readily incorporated into healthcare systems. Further studies with heterogenous population-based samples may further improve the generalizability of these models.

Remdesivir in pregnant women with moderate to severe coronavirus disease 2019 (COVID-19): a retrospective cohort study.

Data on the efficacy of remdesivir in Coronavirus Disease 2019 (COVID-19) are limited in pregnant patients since they have been excluded from clinical trials. We aimed to investigate some clinical outcomes following remdesivir administration in pregnancy. This was a retrospective cohort study conducted on pregnant women with moderate to severe COVID-19. The enrolled patients were divided into two groups with and without remdesivir treatment. The primary outcomes of this study were the length of hospital and intensive care unit stay; respiratory parameters of hospital day 7 including respiratory rate, oxygen saturation, and mode of oxygen support; discharge until days 7 and 14, and need for home oxygen therapy. Secondary outcomes included some maternal and neonatal consequences. Eighty-one pregnant women (57 in the remdesivir group and 24 in the non-remdesivir group) were included. The two study groups were comparable according to the baseline demographic and clinical characteristics. Of the respiratory outcomes, remdesivir was significantly associated with a reduced length of hospital stay (p = 0.021) and also with a lower level of oxygen requirement in patients on low-flow oxygen [odds ratio (OR) 3.669]. Among the maternal consequences, no patients in the remdesivir group developed preeclampsia but three patients (12.5%) experienced this complication in the non-remdesivir group (p = 0.024). Furthermore, in patients with moderate COVID-19, the percentage of emergency termination was significantly lower in remdesivir group (OR 2.46). Our results demonstrated some probable benefits of remdesivir in respiratory and also maternal outcomes. Further investigations with a larger sample size should confirm these results.

25-Hydroxy Vitamin D Level and Its Correlation with Mean Platelet Volume in Preeclampsia.

Background: Preeclampsia is one of the challenging complications of pregnancy, of which little is known about its etiology and pathogenesis. Many studies have shown higher mean platelet volume (MPV) in preeclamptic patients. Vitamin D deficiency is in association with larger-size platelets. Thus, we aimed to determine the correlation of vitamin D with MPV in preeclamptic patients. Methods: This prospective case-control study was conducted in two tertiary hospitals in Tehran, Iran. Overall, 85 preeclamptic pregnant women and 85 normotensive pregnant women were entered between 2017 and 2018. Serum vitamin D concentration (ng/ml) and MPV (femtoliter) were measured for all patients. Results: MPV was significantly higher in the cases compared to controls (10.59±1.08 vs 8.10±0.95, P=0.0001). In addition, serum vitamin D level in the preeclamptic group was significantly lower in compare to the control group (17.79±11.03 vs 30.24±12.49; P=0.0001). In multivariate logistic regression analysis, high age of mother (OR: 1.13; 95% CI: 1.01-1.27; P=0.03), low level of serum vitamin D (OR: 0.93; 95% CI: 0.87-0.99; P=0.02) and high MPV (OR: 8.83; 95% CI: 4.17-18.67; P=0.0001) were independent predictors of preeclampsia. Moreover, a correlation analysis revealed that vitamin D levels correlated negatively with MPV (r= -0.41, P<0.0001). Conclusion: Low levels of vitamin D in preeclamptic pregnancy are associated with higher platelet activity and thrombosis. In fact, the increment of MPV level might be a potential pathway for adverse outcomes of pregnancy including preeclampsia in the context of vitamin D deficiency.

Investigation of maternal and perinatal outcome in a population of Iranian pregnant women infected with COVID-19.

Infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in pregnant women might affect both maternal and neonatal outcomes. Based on the inconsistency between the results of the previous studies and the lack of data about the possible vertical transmission of SARS-CoV-2, we designed the present study to investigate the maternal and perinatal outcomes in 182 Iranian pregnant women infected with COVID-19. Among 40 PCR tests conducted on neonatal throat samples, 11 tests were positive. Among the assessed women, 22 women needed ICU admission and 30 premature labors occurred. There were significant associations between ICU admission and many parameters such as the presence of dyspnea (P < 0.001), COVID-19-related CT scan findings (P = 0.003), need for a ventilator (P < 0.001), and low O2 saturation (P < 0.001), all of which indicate the critical situation of patients. Notably, the cause of delivery was significantly different in both groups, with labor pain and fetal distress being the most frequent causes of delivery in non-ICU and ICU-admitted patients, respectively. Moreover, delivery route (P = 0.003), frequencies of IUGR (P = 0.042), neonatal death (P = 0.008) and asphyxia (P = 0.016), Apgar score (P = 0.003), and gestational age at delivery (P = 0.009) have been associated with ICU admission. The present investigation exhibits association between the critical situation of pregnant women affected with COVID-19 and some adverse neonatal outcomes.

Ultrasound and magnetic resonance imaging features of fetal intracranial cystic lesions: A pictorial essay.

This pictorial essay focuses on ultrasound (US) and magnetic resonance imaging (MRI) features of fetal intracranial cysts. Intracranial cysts are common findings in prenatal imaging, and if great attention is paid to their size, location, and imaging features, they can be diagnosed accurately. They are usually detected by fetal ultrasound exams. However, when ultrasound data on cystic lesion characteristics is insufficient, MRI and fetal neurosonogram are the best options for detecting other associated anomalies. The prognosis is highly dependent on their location and whether they are associated with other fetal anomalies.

Ultrasound-guided induced fetal death, an alternative method for induction of abortion in the bitch.

This study was performed to achieve abortion in a short time and with minimum side effects in a bitch, as an alternative method for termination of unwanted pregnancy. The experimentation was performed on 10 privately owned crossbred pregnant bitches, in their late second trimester of pregnancy, having a variable number of fetuses (3 to 9). Fetal death was induced by transabdominal intracardiac injection of potassium chloride (KCl) into the fetal heart under ultrasonographic guidance. Pregnancy was terminated within 36 to 72 hr (51.60 ± 16.04 hr) and none of the patients experienced any side effects or clinical complications. Data presented in this report provided evidence for the possible use of this technique to selectively reduce the number of canine fetuses without terminating the whole pregnancy. Ultrasound-guided induced fetal death is a safe procedure and a viable method for the induction of abortion in a short time and with no apparent side effects.

Non-invasive prenatal test to screen common trisomies in twin pregnancies.

OBJECTIVES: Recent years have witnessed a shift from invasive methods of prenatal screening to non-invasive strategies. Accordingly, non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma has gained a considerable deal of interest from both geneticists and obstetricians. Efficacy of this method in identification of common aneuploidies has been extensively assessed in singleton pregnancies. However, a limited number of studies have addressed the twin pregnancies. In this context, the present study is aimed at identification of the efficacy of NIPT in twin pregnancies. METHODS: NIPT was performed on twin pregnancies to screen trisomies 13, 18 and 21. Pregnant women referring to Nilou Clinical Laboratory between March 2016 and December 2018 were included in this research. RESULTS: In the current study, a total 356 twin pregnancies were screened in search for trisomies 13, 18 and 21. 6 cases exhibited positive NIPT results in which the presence of trisomies 13, 18 and 21 was confirmed by fetal karyotype in 1, 2 and 2 cases, respectively. One twin pregnancy showed normal karyotype. The combined false-positive rate for these trisomies was 0.28%. No false negative case was observed. The combined sensitivity and specificity of NIPT in twin pregnancies were 100 and 99.7%, respectively. CONCLUSION: The results of the current study verify the feasibility, sensitivity and specificity of NIPT in twin pregnancies.

Transcription Levels of nicotinamide nucleotide transhydrogenase and Its Antisense in Breast Cancer Samples.

OBJECTIVE: To evaluate association of patients' clinicopathological data with expression of nicotinamide nucleotide transhydrogenase (NNT) and naturally occurring antisense RNA of the same gene locus (NNT-AS1) in breast cancer samples. MATERIALS AND METHODS: In the current case-control study, mean expressions of NNT and NNT-AS1 were assessed in 108 breast tissue samples including 54 invasive ductal carcinoma samples and 54 adjacent non-cancerous tissues (ANCTs) by quantitative reverse transcription-polymerase chain reaction (qRT-PCR). RESULTS: NNT expression was not significantly different between tumor tissues and ANCTs. However, NNT-AS1 expression was significantly down-regulated in tumor tissues compared to ANCTs (expression ratio=0.51, P=0.01). NNT-AS1 expression was significantly higher in estrogen receptor (ER) negative samples, in comparison with ER positives (P=0.01). No considerable difference was found in the gene expressions between other subcategories of patients. Considerable correlations were detected between expression levels of these two genetic loci in both tumor tissues and ANCTs. CONCLUSION: In the current study, for the first time we simultaneously assessed expression of NNT and NNT-AS1 in breast cancer tissues. This study highlights association of ER status with dysregulation of NNT-AS1 in breast cancer tissues. Future researches are necessary to explore the function of this long non-coding RNA (lncRNA) in the pathogenesis of breast cancer.

Auditing the appropriateness of cesarean delivery using the Robson classification among women experiencing a maternal near miss.

OBJECTIVE: To evaluate appropriateness of cesarean delivery and cesarean delivery-related morbidity among maternal near misses (MNMs) using the Robson ten-group classification system. METHODS: In the present audit study, medical records were assessed for women who experienced MNM and underwent cesarean delivery at three university hospitals in Tehran, Iran, between March 1, 2012, and May 1, 2014. Local auditors assessed cesarean delivery indications and morbidity experienced. All records were re-assessed using Swedish obstetric guidelines. Findings were reported using the Robson ten-group classification system. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. RESULTS: Of the 61 women included, cesarean deliveries were more likely to be considered appropriate by local auditors compared with Swedish ones (OR 2.7, 95% CI 1.3-5.7). Cesarean delivery-related morbidity was attributed to near-miss events for 10 (16%) MNMs and was found to have aggravated 25 (41%). Of 16 women classified as Robson group 1-4, cesarean delivery-related MNM was identified in 15 (94%), compared with 13 (43%) of 30 women in group 10. Cesarean delivery with appropriate indication was associated with very low likelihood of cesarean delivery-related MNM (OR 0.2, 95% CI 0.1-0.6). CONCLUSION: Cesarean delivery in the absence of appropriate indication could be an unsafe delivery choice. Audits using the Robson classification system facilitate understanding inappropriate cesarean delivery and its impact on maternal health.

Factors related to unwanted pregnancies and abortion in the northern district of the city of Tehran, Iran.

The aim of this study was to investigate the levels and determinants of unwanted pregnancies and therapeutic and elective induced abortions in an Iranian sample of women. This study was conducted from the beginning of 2013 to the end of July 2013, using data from 950 women aged 15-45 years. To evaluate the relationship of independent variables to the number of unwanted pregnancies, a negative binomial regression model was used. A multinomial logistic model was used to investigate the relationship of the history of at least one unwanted pregnancy to therapeutic and elective induced abortion. The prevalence of unwanted pregnancy among participants was 19.2 percent (n = 182). Among those with a history of unwanted pregnancy, eighteen had had at least one induced abortion (14.5 percent of the total abortions reported). Having enough knowledge about the intrauterine device during unprotected intercourse on average was associated with a 57 percent reduction in unwanted pregnancies (mean odds ratio = 0.43, 95 percent Confidence Interval (CI): 0.11-0.93). Given the high rates of complications following unwanted pregnancies and associated maternal health threats, timely identification and training of women at risk, as well as the development of appropriate attitudes regarding reproductive health, may help avoid such pregnancies and their complications.

Performance and Predictive Value of First Trimester Screening Markers for Down Syndrome in Iranian Pregnancies.

Objective: To investigate the performance of first trimester Down syndrome (DS) screening markers in Iranian pregnancies.Although sonographic and serum markers are currently recommended for the first trimester screening of Down syndrome, the screening performance of the markers depends on the race and ethnicity. Materials and methods: A retrospective case-control study using first trimester screening results recorded with the prenatal diagnostic multi-centers in Iran. A total of 6,384 pregnant women were examined from March 2012 to February 2017. Totally 100 Down syndrome cases and 266 matched controls were selected and the maternal characteristics, sonographic and biochemical screening data were collected. Statistical analysis was performed using logistic regression and descriptive statistics. A decision tree model was designed using the chi-squared automatic interaction detection method based on serum markers. Results: For screening of DS pregnancies, PAPP-A (cut-off 0.795 MoM) yielded the highest sensitivity (86%) and NB marker presented highest specificity (96.24%). combination of the biochemical markers PAPP-A and ß-hCG (cut-off: 1.55 MoM) showed the highest sensitivity over other combined markers. The decision-tree model based on serum markers improved (91% DR For a 5% FPR) first trimester screening performance. Conclusion: The novel decision-tree model base on serum markers revealed a better predictive value to achieve high sensitivity and specificity of first trimester Down syndrome screening in Iranian population.

Normalized Weight of Iranian Newborns According to Gestational Age: A Nationwide Study.

BACKGROUND: By organizing birth weights according to gestational age at birth, reference weight values for different sex-gestational ages are provided. METHODS: Data of 1,090,779 mothers and their neonates were gathered from 30 provinces of Iran. Pregnancy complications, maternal risk factors, type of delivery, maternal outcome, neonatal sex and APGAR score were determined. Birth weights were quantified into 3rd, 50th and 97th centile. Regression analysis was used to estimate birth weight of neonates. RESULTS: Birth weight showed an enhancing trend with age; boys weighed more, multiparous women had higher neonatal birth weight, mothers with cardiovascular disease and diabetes mellitus had heavier infants, and mothers aged below 20 years had lower estimated infant birth weight. Gestational age (beta = 147.3) and male sex (beta = 114.9) were the most important independent variables, respectively for predicting birth weight (R-square = 0.512 and P < 0.001). In other words, with each unit increase in gestational age, birth weight would increase by 147.3 grams. Male fetuses were also 114.9 grams heavier than females of the same gestational age. Value of R-square shows relatively acceptable goodness of this statistical model. CONCLUSION: A national reference for fetal growth patterns and related factors was determined in this study.

Evaluation of Placental mir-155-5p and Long Non-coding RNA sONE Expression in Patients with Severe Pre-eclampsia.

It has been well documented that preeclampsia (PE) has a common etiological background, but little is known about its linkage at the molecular level.Non- coding RNAs are critical posttranscriptional regulators ofgene expression. This study was performed to determine whether PE is associated with alterations in placental non-coding RNAs expression. MicroRNA (miR)-155-5p and long non-coding RNA (lnc)sONE expression, in placentas collected sequentially from 59 patients with PE and 40 normotensive pregnancies were measured using real-time PCR.The relationship between miR-155-5p and lncsONE expressions was analyzed statistically. miR-155-5p expression was increased (fold change =1.6, P=0.04), while lncsONE expression was not significantly changed (fold change =1.1, P=0.68), in placentas from patients compared with control group.miR-155-5p was upregulated in placentas from patients with PE and may have influenced eNOS expression. These findings indicate that miRNA-155-5p may be involved in PE pathogenesis and could be a potential biomarker for this disease.

Afghan migrants face more suboptimal care than natives: a maternal near-miss audit study at university hospitals in Tehran, Iran.

BACKGROUND: Women from low-income settings have higher risk of maternal near miss (MNM) and suboptimal care than natives in high-income countries. Iran is the second largest host country for Afghan refugees in the world. Our aim was to investigate whether care quality for MNM differed between Iranians and Afghans and identify potential preventable attributes of MNM. METHODS: An MNM audit study was conducted from 2012 to 2014 at three university hospitals in Tehran. Auditors evaluated the quality of care by reviewing the hospital records of 76 MNM cases (54 Iranians, 22 Afghans) and considering additional input from interviews with patients and professionals. Main outcomes were frequency of suboptimal care and the preventable attributes of MNM. Crude and adjusted odds ratios with confidence intervals for the independent predictors were examined. RESULTS: Afghan MNM faced suboptimal care more frequently than Iranians after adjusting for educational level, family income, and insurance status. Above two-thirds (71%, 54/76) of MNM cases were potentially avoidable. Preventable factors were mostly provider-related (85%, 46/54), but patient- (31%, 17/54) and health system-related factors (26%, 14/54) were also important. Delayed recognition, misdiagnosis, inappropriate care plan, delays in care-seeking, and costly care services were the main potentially preventable attributes of MNM. CONCLUSIONS: Afghan mothers faced inequality in obstetric care. Suboptimal care was provided in a majority of preventable near-miss events. Improving obstetric practice and targeting migrants' specific needs during pregnancy may avert near-miss outcomes.

Risk Factors and Consequent Outcomes of Placenta Previa: Report From a Referral Center.

 Because of an unknown factor, the frequency of complicated pregnancy with placenta previa has been raised during past decade. This study was designed to deepen our understanding of risk factors and outcomes of placenta previa in our country. This study investigated 694 cases of placenta previa comparing with 600 healthy pregnant women with not overlie placenta in two referral and tertiary Obstetrics and Gynecological Hospital in Iran on the basis of the clinical and para-clinical analysis, in order to find the probable risk factors for occurrence of placenta previa and its effect on maternal and neonatal complications. The most important risk factor for the occurrence of placenta previa was advanced maternal age (P<0.001) and history of stillbirth (OR=117.2, CI=58.3-236.0). In the other hand, the most substantial outcome of this disorder was a reduction of gestational age (P<0.001) and low birth weight neonatally (P<0.001). The conservative follow-up should be programmed for women with placenta previa based on the type of risk factors which can provide the best possible management to decrease the morbidity and mortality of their related complications.

Maternal near-miss at university hospitals with cesarean overuse: an incident case-control study.

INTRODUCTION: Cesarean section carries a substantial risk of maternal near-miss morbidity. The aim of this study was to determine the frequency, causes, risk factors, and perinatal outcomes of maternal near-miss at three university hospitals with a high rate of cesarean section in Tehran, Iran. MATERIAL AND METHODS: An incident case-control study was conducted from March 2012 to May 2014. The modified WHO near-miss criteria were used to identify cases. A control sample of 1024 women delivering at the study hospitals was recruited to represent the source population. Near-miss ratio, crude and adjusted odds ratios with confidence intervals were assessed. RESULTS: Among 12 965 live births, 82 mothers developed near-miss morbidities and 12 died. The maternal near-miss ratio was 6.3/1000 live births. Severe postpartum hemorrhage (35%, 29/82), severe preeclampsia (32%, 26/82), and placenta previa/abnormally invasive placenta (10%, 8/82) were the most frequent causes of maternal near-miss. Women with antepartum cesarean section (adjusted odds ratio 7.4, 95% confidence interval 3.7-15.1) and co-morbidity (adjusted odds ratio 2.3, 95% confidence interval 1.4-3.8), uninsured Iranians (adjusted odds ratio 3.4, 95% confidence interval 1.7-7.1) and uninsured Afghans (adjusted odds ratio 4.7, 95% confidence interval 2.4-9.2) had increased risks of near-miss morbidity. Stillbirth and extremely preterm birth were the most prominent adverse perinatal outcomes associated with maternal near-miss. CONCLUSIONS: Overutilization of cesarean section clearly influenced the causes of maternal near-miss. A lack of health insurance had a measurable impact on near-miss morbidity. Tailored interventions for reducing unnecessary cesarean section and unrestricted insurance cover for emergency obstetric care can potentially improve maternal and perinatal outcomes.

Perinatal complications associated with preterm deliveries at 24 to 33 weeks and 6 days gestation (2011- 2012): A hospital-based retrospective study.

BACKGROUND: Morbidity and mortality of preterm babies are important issues in perinatal medicine. In developed countries, preterm delivery is the cause of about 70% of mortality and 75% of morbidity in the neonatal period, respectively. OBJECTIVE: The aim of this study was to determine the risk factors for preterm labor and the outcomes, in terms of perinatal mortality and morbidity at the time of discharge home, among preterm infants at less than 34 weeks gestation. MATERIALS AND METHODS: A retrospective study was conducted and all infants with a gestational age of 24 to 33 weeks and 6 days who were born from November 1(st), 2011 to March 31, 2012 were enrolled in this study. RESULTS: From 1185 preterm infants were born during this period, 475 (40.08%) infants with less than 34 weeks gestational age were included in the study. Our study showed the major obstetrical risk factors for preterm labor were as follows: preeclampsia (21%), premature rupture of membranes (20.3%), abruption of placenta (10%), and idiopathic cases (48.7%). The neonatal mortality rate in less than 34 weeks was 9.05%. Significant perinatal morbidity causesd in less than 34 weeks were as follows: sepsis (46.94%), respiratory distress syndrome (41.47%), patent ductus arteriosus (21.47%), retinopathy of prematurity (3.57%), necrotizing entrocolitis (1.68%), intra-ventricular hemorrhage (9%), and broncho-pulmonary dysplasia (0.84%). CONCLUSION: Preterm birth is associated with adverse perinatal outcome. This situation needs to be improved by directing appropriately increased resources for improving prenatal health services and providing advanced neonatal care.

Does magnesium sulfate delay the active phase of labor in women with premature rupture of membranes? A randomized controlled trial.

OBJECTIVE: Administration of many drugs including magnesium sulfate (MS) has considerable influences on pregnancy outcomes. The present study investigates the effects of MS administration on reaching the active phase of labor in women with premature rupture of membrane (PROM) and subsequent fetal complications. MATERIALS AND METHODS: A double blind, randomized, placebo-controlled trial was performed among primipara women referred to the PROM center in Tehran, Iran between March 2010 and August 2012. Patients were equally allocated into two groups; the intervention group who received MS (n = 46) and the control (placebo) group (n = 46). Both groups received a corticosteroid, 1g oral azithromycin (oral) and 2 g ampicillin (IV) every 6 hours for 48 hours, followed by amoxicillin (500 mg orally 3 times daily) for an additional 5 days. None of the research staff were aware of the treatment allocation of patients in order for blinding purposes. RESULTS: Administration of MS in intervention group increases this period 2.7 times compared to the control group. In women whose gestational age was <30 weeks, MS administration increased the active phase of labor up to 77%. Administration of magnesium sulfate reduced the risk of respiratory distress syndrome significantly (p = 0 .002), without producing any adverse pregnancy outcomes. CONCLUSION: Magnesium sulfate increases delay in reaching the active phase of labor in mothers with PROM, without producing adverse birth outcomes. (Registration ID in IRCT; IRCT2012091810876N1).

Can we rely on the multiplex ligation-dependent probe amplification method (MLPA) for prenatal diagnosis?

BACKGROUND: The major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, X and Y. Because multiplex ligation-dependent probe amplification (MLPA) is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries. OBJECTIVE: To evaluate the sensitivity and specificity of MLPA in a cross-sectional descriptive study for the detection of chromosomal aneuploidies in comparison to other methods. MATERIALS AND METHODS: Genomic DNA was extracted from the peripheral blood samples of 10 normal controls and the amniotic fluid of 55 patients. Aneuploidies screening of chromosomes 13, 18, 21, X and Y were carried out using specific MLPA probe mixes (P095-A2). For comparison purposes, samples were also tested by Quantitative Fluorescent-PCR (QF-PCR) and routine chromosomal culture method. RESULTS: Using this specific MLPA technique and data-analyzing software (Genemarker v1.85), one case was diagnosed with 45, X (e.g. Monosomy X or Turner's Syndrome), and the remaining 54 cases revealed normal karyotypes. These results were concordant with routine chromosomal culture and QF-PCR findings. CONCLUSION: The experiment demonstrates that MLPA can provide a rapid and accurate clinical method for prenatal identification of common chromosomal aneuploidies with 100% sensitivity and 100% specificity.

Complex translocation among chromosomes 2, 3, 9, 15, 18, 20 in a patient with 3p-syndrome.

A 3-month old girl with monosomy for distal part of the short arm of chromosome 3 is described. Physical examination showed growth retardation, microcephaly, ptosis, micrognathia, low set ears, broad nasal bridge, Simian crease, long philtrum, thin lips and hypertelorism. The patient's clinical phenotype largely resembled that of 3p- syndrome but her karyotype was more complicated than just losing the telomeric portion (3p-25.3) of the short arm of one of her chromosomes 3. Her karyotype was 46, XX, t(2;18) (p12;q12.1), del(3) (p23p26), t(3;9;15; 20) (q13;p23;q12; p12). Her parents showed a normal karyotype pattern.