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Purpose: This study aimed to investigate the performance, cost-effectiveness and additional findings of combined detailed ultrasound and biochemical screening for risks of major fetal trisomies in the first-trimester. Methods: This is a retrospective analysis study, we estimated the risk of trisomies 21, 18 and 13 based on maternal age, fetal nuchal translucency thickness, nasal bone, ductus venosus pulsatility index velocity, tricuspid regurgitation, fetal heart rate, free beta-human chorionic gonadotropin, and pregnancy-associated plasma protein A in singleton pregnant women, and performed non-invasive prenatal testing for women with risks of trisomy 21 between 1:500 and 1:300. Invasive diagnostic testing was performed for women with positive or failed non-invasive prenatal testing result and in the high-risk group of this screening method. The direct costs were compared between this strategy and the non-invasive prenatal testing which alone used as first-line screening for all pregnant women. Results: Among 25,155 singleton pregnant women who underwent screening, 24,361 were available for analysis, of these, 194 cases underwent non-invasive prenatal testing. Among the 24,361 women, 39, 19, and 7 had trisomies 21, 18 and 13, respectively. The use of this strategy could potentially detect approximately 94.87% of trisomy 21 cases, 100% of trisomy 18 cases, and 100% of trisomy 13 cases, with false-positive rates of 2.49%, 0.41%, and 0.49%, respectively. The overall detection rate and overall false-positive rates were 96.92% and 2.52%, respectively. The detection rate was 100% in the advanced age group and 94.12% in the general age group. Additionally, structural abnormalities were detected in 137 fetuses, and 44 fetuses had other chromosomal abnormalities. The total cost of this strategy was $3,730,843.30, and the cost per person tested was $153.15. The total cost of using non-invasive prenatal testing as the first-line strategy would be $6,813,387.04 and the cost per person tested was $279.68. Conclusions: Our strategy is an efficient and cost-effective approach for detecting major trisomies and identifying more fetuses with a potential abnormality. Therefore, this strategy is a valuable screening method and highly feasible in the clinical setting. [ABSTRACT FROM AUTHOR]

Although several Latin American countries have 70% antenatal care coverage, the proportion of human immunodeficiency virus (HIV) testing of Peruvian pregnant women and the socioeconomic inequalities of this preventive measure are unknown. This study aimed to determine socioeconomic inequalities and quantify the contribution of contextual and compositional factors on HIV testing during prenatal care in Peru. A cross-sectional study of the 2021 Demographic and Family Health Survey data was conducted. The outcome variable was HIV testing of pregnant women during prenatal care. An analysis of inequalities was performed including the determination of concentration curves and a decomposition analysis of concentration indices. Of a total of 17521 women aged 15 to 49 years, 91.4% had been tested for HIV during prenatal care. The concentration curves showed that prenatal HIV testing was concentrated among richer women, while the decomposition analysis determined that the main contributors to inequality were having a higher education, residing in an urban area, and in the highlands, belonging to the wealthy quintile, and being exposed to television and newspapers. Strategies focused on improving access, promotion and restructuring of prevention of mother-to-child transmission measures should be prioritized. [ABSTRACT FROM AUTHOR]

Background: Only verbal pregnancy screening is recommended for post-menarcheal females undergoing pelvic radiographs. In contrast, usually, a urine/serum pregnancy test for pelvic computed tomographic (CT) exams is required out of concern for higher radiation exposure. Objective: To estimate patient-specific fetus absorbed dose to a potentially pregnant minor from an optimized dose CT of the pelvis for femoral version and surgical planning and provide evidence that such examinations of the pelvis can be performed with only verbal pregnancy screening. Methods and methods: A retrospective study was performed on 102 female patients between 12–18 years of age (15.4 ± 2.1 years) who underwent optimized dose CT of the pelvis for orthopedic evaluation of femoral version and surgical planning. Optimized CT exams were performed with weight-adjusted kVp and tube current modulation. Patient-specific dose from the optimized dose CT was calculated using the National Cancer Institute Dosimetry System for CT (NCICT) database by matching each patient to a phantom from the NCI non-reference phantom library based on patient sex, weight, and height. The calculated absorbed uterus dose was used as a surrogate for the fetus dose. Furthermore, patient-specific organ doses were used to estimate the effective dose. The strengths of the linear relationships between the dose metrics and patient characteristics were assessed using Pearson correlation coefficients through linear regression. Results: The mean patient-specific effective dose for an optimized dose CT of the pelvis was 0.54 ± 0.20 mSv (range: 0.15–1.22 mSv). The mean estimated absorbed uterine dose was 1.57 ± 0.67 mGy (range: 0.42–4.81 mGy). Both effective dose and estimated uterine dose correlated poorly with patient physical characteristics (R = -0.26; 95% CI: [-0.43, -0.007] for age, R = 0.03; 95% CI: [-0.17, 0.22] for weight) but correlated strongly (R = 0.79, 95% CI: [0.7, 0.85]) with CTDIvol. Conclusion: The estimated fetus dose in case of pregnancy was significantly lower than 20 mGy for urine/serum pregnancy screening, suggesting that the pregnancy screening protocols in minors undergoing optimized dose CT require reassessment and may be safely performed by verbal attestation only. [ABSTRACT FROM AUTHOR]

Purpose: Group B streptococcus (GBS) remains a leading cause of invasive disease, mainly sepsis and meningitis, in infants < 3 months of age and of mortality among neonates. This study, a major component of the European DEVANI project (Design of a Vaccine Against Neonatal Infections) describes clinical and important microbiological characteristics of neonatal GBS diseases. It quantifies the rate of antenatal screening and intrapartum antibiotic prophylaxis among cases and identifies risk factors associated with an adverse outcome. Methods: Clinical and microbiological data from 153 invasive neonatal cases (82 early-onset [EOD], 71 late-onset disease [LOD] cases) were collected in eight European countries from mid-2008 to end-2010. Results: Respiratory distress was the most frequent clinical sign at onset of EOD, while meningitis is found in > 30% of LOD. The study revealed that 59% of mothers of EOD cases had not received antenatal screening, whilst GBS was detected in 48.5% of screened cases. Meningitis was associated with an adverse outcome in LOD cases, while prematurity and the presence of cardiocirculatory symptoms were associated with an adverse outcome in EOD cases. Capsular-polysaccharide type III was the most frequent in both EOD and LOD cases with regional differences in the clonal complex distribution. Conclusions: Standardizing recommendations related to neonatal GBS disease and increasing compliance might improve clinical care and the prevention of GBS EOD. But even full adherence to antenatal screening would miss a relevant number of EOD cases, thus, the most promising prophylactic approach against GBS EOD and LOD would be a vaccine for maternal immunization. [ABSTRACT FROM AUTHOR]

Purpose: To assess the value of routine mid-trimester fetal ultrasound scans in detecting FCs, as well as the related ultrasound and clinical follow-up outcomes.A retrospective analysis was conducted on 1064 fetuses who underwent standardized ultrasound screening during the mid-trimester. During the examination, high-frequency ultrasound was used to examine the fetal spine. Different frequency ultrasound probes were used to compare and analyze the detection rates of FCs. We conducted follow-up ultrasound observations on all FCs and conducted long-term follow-up observations in terms of the motor function of the children after birth.Among 1064 fetuses detected by ultrasound, a total of 910 fetuses were completely evaluated using high-frequency and low-frequency ultrasound, and 24 FCs were found. In all 24 cases of FCs, 7 cases were detected using low-frequency ultrasound, while high-frequency ultrasound detected all cases. There was a significant difference in the detection rates between the two groups (χ2 = 26.323, P = 0.000). Of all the 24 FCs, 21 cysts disappeared spontaneously (87.5%); one fetus was induced for abortion due to a concurrent cleft lip; after multiple ultrasound examinations, it was found that the cyst persisted in one fetus; one case was not followed up by ultrasound. There was no statistically significant difference in the start of sitting and crawling time between the control group and the FCs group.Routine mid-trimester fetal ultrasound scan detect FCs, particularly when high-frequency ultrasound probes were routinely applied. Most FCs detected by prenatal ultrasound spontaneously disappear and have no impact on the motor function of the fetus after birth (with the conus medullaris located at or above the L3 level). The shortest time interval from the detection to the disappearance of the cyst was 11 days.Methods: To assess the value of routine mid-trimester fetal ultrasound scans in detecting FCs, as well as the related ultrasound and clinical follow-up outcomes.A retrospective analysis was conducted on 1064 fetuses who underwent standardized ultrasound screening during the mid-trimester. During the examination, high-frequency ultrasound was used to examine the fetal spine. Different frequency ultrasound probes were used to compare and analyze the detection rates of FCs. We conducted follow-up ultrasound observations on all FCs and conducted long-term follow-up observations in terms of the motor function of the children after birth.Among 1064 fetuses detected by ultrasound, a total of 910 fetuses were completely evaluated using high-frequency and low-frequency ultrasound, and 24 FCs were found. In all 24 cases of FCs, 7 cases were detected using low-frequency ultrasound, while high-frequency ultrasound detected all cases. There was a significant difference in the detection rates between the two groups (χ2 = 26.323, P = 0.000). Of all the 24 FCs, 21 cysts disappeared spontaneously (87.5%); one fetus was induced for abortion due to a concurrent cleft lip; after multiple ultrasound examinations, it was found that the cyst persisted in one fetus; one case was not followed up by ultrasound. There was no statistically significant difference in the start of sitting and crawling time between the control group and the FCs group.Routine mid-trimester fetal ultrasound scan detect FCs, particularly when high-frequency ultrasound probes were routinely applied. Most FCs detected by prenatal ultrasound spontaneously disappear and have no impact on the motor function of the fetus after birth (with the conus medullaris located at or above the L3 level). The shortest time interval from the detection to the disappearance of the cyst was 11 days.Results: To assess the value of routine mid-trimester fetal ultrasound scans in detecting FCs, as well as the related ultrasound and clinical follow-up outcomes.A retrospective analysis was conducted on 1064 fetuses who underwent standardized ultrasound screening during the mid-trimester. During the examination, high-frequency ultrasound was used to examine the fetal spine. Different frequency ultrasound probes were used to compare and analyze the detection rates of FCs. We conducted follow-up ultrasound observations on all FCs and conducted long-term follow-up observations in terms of the motor function of the children after birth.Among 1064 fetuses detected by ultrasound, a total of 910 fetuses were completely evaluated using high-frequency and low-frequency ultrasound, and 24 FCs were found. In all 24 cases of FCs, 7 cases were detected using low-frequency ultrasound, while high-frequency ultrasound detected all cases. There was a significant difference in the detection rates between the two groups (χ2 = 26.323, P = 0.000). Of all the 24 FCs, 21 cysts disappeared spontaneously (87.5%); one fetus was induced for abortion due to a concurrent cleft lip; after multiple ultrasound examinations, it was found that the cyst persisted in one fetus; one case was not followed up by ultrasound. There was no statistically significant difference in the start of sitting and crawling time between the control group and the FCs group.Routine mid-trimester fetal ultrasound scan detect FCs, particularly when high-frequency ultrasound probes were routinely applied. Most FCs detected by prenatal ultrasound spontaneously disappear and have no impact on the motor function of the fetus after birth (with the conus medullaris located at or above the L3 level). The shortest time interval from the detection to the disappearance of the cyst was 11 days.Conclusion: To assess the value of routine mid-trimester fetal ultrasound scans in detecting FCs, as well as the related ultrasound and clinical follow-up outcomes.A retrospective analysis was conducted on 1064 fetuses who underwent standardized ultrasound screening during the mid-trimester. During the examination, high-frequency ultrasound was used to examine the fetal spine. Different frequency ultrasound probes were used to compare and analyze the detection rates of FCs. We conducted follow-up ultrasound observations on all FCs and conducted long-term follow-up observations in terms of the motor function of the children after birth.Among 1064 fetuses detected by ultrasound, a total of 910 fetuses were completely evaluated using high-frequency and low-frequency ultrasound, and 24 FCs were found. In all 24 cases of FCs, 7 cases were detected using low-frequency ultrasound, while high-frequency ultrasound detected all cases. There was a significant difference in the detection rates between the two groups (χ2 = 26.323, P = 0.000). Of all the 24 FCs, 21 cysts disappeared spontaneously (87.5%); one fetus was induced for abortion due to a concurrent cleft lip; after multiple ultrasound examinations, it was found that the cyst persisted in one fetus; one case was not followed up by ultrasound. There was no statistically significant difference in the start of sitting and crawling time between the control group and the FCs group.Routine mid-trimester fetal ultrasound scan detect FCs, particularly when high-frequency ultrasound probes were routinely applied. Most FCs detected by prenatal ultrasound spontaneously disappear and have no impact on the motor function of the fetus after birth (with the conus medullaris located at or above the L3 level). The shortest time interval from the detection to the disappearance of the cyst was 11 days. [ABSTRACT FROM AUTHOR]

Non-Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal DNA (cff-DNA), is successfully implemented for an increasing number of monogenic diseases. However, technical issues related to cff-DNA characteristics remain, and not all mutations can be screened with this method, particularly triplet expansion mutations that frequently concern prenatal diagnosis requests. The objective of this study was to develop an approach to isolate and analyze Circulating Trophoblastic Fetal Cells (CFTCs) for NIPD of monogenic diseases caused by triplet repeat expansion or point mutations. We developed a method for CFTC isolation based on DEPArray sorting and used Huntington's disease as the clinical model for CFTC-based NIPD. Then, we investigated whether CFTC isolation and Whole Genome Amplification (WGA) could be used for NIPD in couples at risk of transmitting different monogenic diseases. Our data show that the allele drop-out rate was 3-fold higher in CFTCs than in maternal cells processed in the same way. Moreover, we give new insights into CFTCs by compiling data obtained by extensive molecular testing by microsatellite multiplex PCR genotyping and by WGA followed by mini-exome sequencing. CFTCs appear to be often characterized by a random state of genomic degradation. [ABSTRACT FROM AUTHOR]

To discuss combinations of traditional screening and noninvasive prenatal screening (NIPS) and to compare which traditional screening is the most suitable first-line screening approach to NIPS, pregnant women were recruited in this retrospective observational study. Pregnant women underwent one of four traditional screening tests. The 9 contingent models were combined by high risk cut-offs of 1:50, 1:100, 1:270 and intermediate risk cut-offs of 1:1000, 1:1500, 1:2000. We analyzed cost and performance of various screening models with contingent screening of different risk cut-offs. Compared with other screening tests, combined first-trimester screening (CFTS) had the lowest proportion of high risk (≥1:270) with the highest detection rate (DR) (78.79%) and the lowest proportion of intermediate risk (1:271~1:1000). When intermediate risk was 1:51 ~1:1500, CFTS as first-line screening had the lowest cost with DR of 93.94%. Other screening tests as the first-line screening with intermediate risk of 1:51~1:1000 had the lowest cost, there DR were 90.91%, 84.62%, 91.67%, respectively. Our study demonstrated if only one traditional screening was allowed to screen pregnant women, CFTS was recommended as the first choice. According to local health and economic conditions, adopting appropriate traditional screening with suitable cut-offs as first-line screening will contributed to a cost-effective screening model. [ABSTRACT FROM AUTHOR]

International guidelines recommend that prenatal screening for fetal abnormalities should only be offered within a non-directive framework aimed at enabling women in making meaningful reproductive choices. Whilst this position is widely endorsed, developments in cell-free fetal DNA based Non-Invasive Prenatal Testing are now raising questions about its continued suitability for guiding screening policy and practice. This issue is most apparent within debates on the scope of the screening offer. Implied by the aim of enabling meaningful reproductive choices is the idea that screening services should support women in accessing prenatal tests that best enable them to realize the types of reproductive choice that they find important. However, beyond whatever options meet the quality standards required for facilitating an informed decision, the remaining criteria of facilitating autonomous choice is strictly non-directive. As a result, policy makers receive little indication prior to consultation with each individual woman, about what conditions should be prioritized during the offer of screening. In this paper we try to address this issue by using the capabilities approach to further specify the non-directive aim of enabling meaningful reproductive choice. The resulting framework is then used to assess the relative importance of offering prenatal screening where concerning different types of genetic condition. We conclude that greater priority may be ascribed to offering prenatal screening for conditions that more significantly diminish a woman's central capabilities. It follows that serious congenital and earlier-onset conditions are more likely to fulfill these criteria. [ABSTRACT FROM AUTHOR]

Purpose: To assess fetal central nervous system (CNS) abnormalities presenting as major findings leading to late termination of pregnancy (late TOP) performed ≥ 24 weeks' gestation.Method: The study population included 2789 pregnant women that underwent late TOP in our institute between the years 1998 and 2015.Results: Fifty-seven cases (2.0%) underwent late TOP because of fetal CNS indications and are the subjects of the current study. Those cases were subdivided into four categories (1) no routine prenatal screening with an incidental finding discovered ≥ 24 weeks' gestation (25 patients, 43.8%); (2) developmental or acquired findings detected during late second and third trimester (22 patients, 38.6%); (3) apparently normal routine screening with abnormal findings that could have been detected earlier (six patients, 10.6%); (4) routine prenatal care raised suspicion of abnormalities, and the final diagnosis was established only following additional tests (four patients, 7.0%).Conclusions: Combining the two categories of CNS abnormalities, i.e., pregnant women who did not undergo any fetal evaluation (group 1) and those that could have been detected earlier (group 3) consists 54% from our cohort in which late TOP could have been avoided. On contrary, 39% fetuses from our study population had CNS developmental findings which could be detected only at advanced stage of gestation. [ABSTRACT FROM AUTHOR]

The objective of this study was to assess the ability of different parameters to identify fetuses requiring neonatal care for coarctation of the aorta (CoA). Between January 2003 and December 2012, 175 fetuses referred for great vessel disproportion were divided into two groups: group A ( n = 51) with high risk of CoA and delivery planned in tertiary care referral center and group B ( n = 124) with no increased risk of CoA. In group A, diagnosis of CoA was confirmed in 38/51 (74 %). In group B, 2/124 had CoA. Multiple logistic regression analysis identified the best combination as diffusely hypoplastic and/or angular aortic arches, ventricular septal defect and aortic valve diameter <5 mm at 36-week gestational age (GA). Positive predictive value was 75 % when vessel disproportion was noted before 28-week GA and 73 % in the third trimester. Postnatal diagnosis involved 38 cases of CoA which had not been referred. One case of CoA diagnosed after birth was referred prenatally for difficulty of screening without any defect. The results of our prospective study are in agreement with those of previous series, but our false positive rate was lower especially when the diagnosis of vascular disproportion was made at third trimester. The performance of fetal cardiac screening does not seem to be very good, but prenatal diagnosis is probably not always possible: Among our three false negative cases, two had isolated vascular disproportion and the third no risk factors. [ABSTRACT FROM AUTHOR]

Widespread antenatal screening has resulted in increased detection of anomalies of the kidneys and urinary tract. The present guidelines update the recommendations published in 2000. Antenatal hydronephrosis (ANH) is transient and resolves by the third trimester in almost one-half cases. The presence of oligohydramnios and additional renal or extrarenal anomalies suggests significant pathology. All patients with ANH should undergo postnatal ultrasonography; the intensity of subsequent evaluation depends on anteroposterior diameter (APD) of the renal pelvis and/or Society for Fetal Urology (SFU) grading. Patients with postnatal APD exceeding 10 mm and/or SFU grade 3-4 should be screened for upper or lower urinary tract obstruction and vesicoureteric reflux. Infants with vesicoureteric reflux should receive antibiotic prophylaxis through the first year of life, and their parents counseled regarding the risk of urinary tract infections. The management of patients with pelviureteric junction or vesicoureteric junction obstruction depends on clinical features and results of sequential ultrasonography and radionuclide renography. Surgery is considered in patients with increasing renal pelvic APD and/or an obstructed renogram with differential renal function <35-40% or its subsequent decline. Further studies are necessary to clarify the role of prenatal intervention, frequency of follow up investigations and indications for surgery in these patients. [ABSTRACT FROM AUTHOR]

Objective:In 2009, the California Genetic Disease Branch introduced an aneuploidy screening program allowing Medi-Cal (state insured) patients access to state-sponsored first-trimester screening. The objective of this study was to assess the effect of greater access to prenatal screening on available resources at a single center.Study Design:Data of prenatal screening and diagnostic procedures performed 4 months before the introduction of the program were compared with those of 12 months following the introduction.Result:Between December 2008 and March 2010, 7689 women underwent first trimester screening, 1286 underwent amniocentesis and 398 underwent chorionic villus sampling. When a comparison was made between the 4 months before and the 12 months after the program's introduction, a greater number of nuchal translucency (NT) examinations was seen to have been performed (384 per month vs 513 per month, P=0.001). Prenatal diagnostic procedures did not increase, but a greater proportion was performed for positive screen results.Conclusion:Introduction of the California screening program was associated with increased NT procedures and fewer invasive procedures for advanced maternal age. [ABSTRACT FROM AUTHOR]

Pulse oximetry screening (POS) has been proposed as an effective, noninvasive, inexpensive tool allowing earlier diagnosis of critical congenital heart disease (cCHD). Our aim was to test the hypothesis that POS can reduce the diagnostic gap in cCHD in daily clinical routine in the setting of tertiary, secondary and primary care centres. We conducted a prospective multicenter trial in Saxony, Germany. POS was performed in healthy term and post-term newborns at the age of 24-72 h. If an oxygen saturation (SpO(2)) of

A national carrier screening program targeted at communities in which severe genetic diseases are present with a frequency higher than 1/1000 live births, has been in existence in Israel since 2002. Within the communities at risk, carrier screening is voluntary whereas genetic counseling and testing is provided free of charge. During the first 5 years of the program more than 13 000 tests were performed, and at the end of 2007 it was offered in 35 different localities/communities for a total of 36 diseases. Many of the couples identified to be at risk opted for prenatal diagnosis and in two cases an affected pregnancy was terminated. In some cases the couples declined prenatal diagnosis and two of those families gave birth to an affected child. Based on the experience learnt from this targeted screening program it appears that a knowledge-based, voluntary screening program operated within the community is an effective way to provide genetic services and test referrals. The community program directed toward couples in their reproductive period does not seem to have led to stigmatization at either the individual or the community level.European Journal of Human Genetics (2009) 17, 591–597; doi:10.1038/ejhg.2008.241; published online 24 December 2008 [ABSTRACT FROM AUTHOR]

In comparison with other Canadian provinces and most Western countries, the province of Manitoba maintains a different vaccination policy for hepatitis B. This policy provides selective antenatal screening for hepatitis B in women and an inoculation program for hepatitis B vaccination for fourth-grade pupils. There has been increasing concern for this policy with regard to its influence on secular trends of acute hepatitis B incidence in Manitoba. This created a need to summarise the epidemiological characteristics of hepatitis B virus (HBV) infection in Manitoba and to allocate finances and human resources for future prevention programs. The Cadham Provincial Laboratory in Winnipeg, a Canadian Public Health Laboratory, is responsible for testing all specimens for diagnosis of various common infectious diseases in Manitoba. During the period from 1 January 1992 to 31 December 2003, a total of 285,946 clinical specimens were submitted to this laboratory, which confirmed 310 cases of acute HBV and 7,556 cases of chronic HBV infection. A total of 18,168 individuals were identified as having vaccine-induced immune status. The incidence rate of acute HBV infection has significantly decreased from 6.52/100,000 person-years in 1996 to 0.86/100,000 person-years in 2003. Annual prevalence rates of chronic HBV infection in Manitoba increased slightly from 42.96 cases/100,000 population in 1992 to 71.47 cases/100,000 population in 2003. Incidence rates were generally higher in men than in women at all age groups, with values of 2.65 and 1.65 per 100,000 population, respectively (chi-square=15.768, p value <0.001). The highest incidence rate for both males and females was observed in the age group 30–34 years. The North Eastman and Winnipeg Regional Health Authorities showed significantly higher incidence rates of acute hepatitis B compared with the other nine Regional Health Authorities. Selective hepatitis B vaccination programs for children in Manitoba had achieved the greatest success in the prevention of vertical and horizontal transmission. There is an urgent need to develop cost-effective harm-reduction strategies for hepatitis B prevention among adults (aged 30–34) and groups at risk in Manitoba. [ABSTRACT FROM AUTHOR]

Unlabelled: The aim of this study was to assess the effectivity of the identification of patients with congenital adrenal hyperplasia (CAH) in Hungary in the absence of systematic neonatal screening and to estimate the incidence. Dried blood-spot samples of patients clinically suspected at any age to have CAH were collected between 1978 and 1998 throughout the whole country. 17-Hydroxyprogesterone (17-OHP) was measured by radioimmunoassay. Age-specific cut-offs were used. The effectivity of the system was retrospectively assessed. Additional cases were sought to assess the overall incidence of CAH in Hungary. Among the 1,837 patients investigated, 185 cases of CAH were identified. The overall effectivity was 94.7%. The sensitivity and the specificity were 98.9% and 94.2%, respectively. Salt-wasting (SW) boys were, on average, diagnosed 2 weeks later than SW girls, while both boys and girls with the simple virilising (SV) form were diagnosed at similar ages (2 versus 2.5 years). An additional 19 cases were diagnosed during the study period using other methods (plasma and urinary steroid profiles without blood-spot 17-OHP measurements). The incidence of classical CAH in Hungary was 1:14,300 (CI 95% between 1:12,450 and 1:16,795). Presuming that the incidence of CAH is the same among boys and girls, one can calculate that the diagnosis was missed in 24 boys (2 SW, 22 SV).Conclusion: it is possible to identify the vast majority of classical cases of congenital adrenal hyperplasia without a neonatal mass screening programme. However, a significant number of boys with the simple virilising form missed whereas both salt-wasting boys and girls are diagnosed safely. [ABSTRACT FROM AUTHOR]

Clinical breast examination (CBE) provides an important screening tool for the earlier detection of breast cancer among women in populations such as ours where mammography is not widely available as a screening tool. There is a paucity of data on the level of practice of antenatal CBE by health-care providers at Aba, South Eastern Nigeria. To determine the level of practice of antenatal CBE by health-care providers as a method of early detection of breast cancer. A descriptive study involving 100 consecutive and consenting patients at the antenatal clinic of Abia State University Teaching Hospital, Aba, South Eastern Nigeria over the period 1 June–15 June 2007 was carried out. Using a structured questionnaire, the respondents’ socio-demographic data were obtained, as well as their knowledge of breast cancer and of what breast cancer examination screens for, and self-reported data on their having ever received CBE during the current antenatal period. The knowledge of breast cancer was poor. Although 99% of the women had heard of breast cancer, only 34% of them knew what breast examination screened for, whilst only 1 and 2% had received CBE by doctors and nurses, respectively, during the current antenatal period. No breast abnormalities or suspicious nodes were detected during the antenatal CBEs. The level of practice of routine antenatal CBE by health-care providers is very low in our setting. Health-care providers should perform a thorough breast examination at the first prenatal visit and maintain a high index of suspicion for breast cancer throughout pregnancy. [ABSTRACT FROM AUTHOR]

The author comments on how the use of non-invasive prenatal tests prompted to incidental findings about the pregnant mother's own health. Topics discussed include the need for test providers to rethink their consent forms to prevent unwarranted confusion and anxiety, the role of professional societies in providing education and clinical guidance, and the possible effects of incidental findings emerging from prenatal tests.

The article offers information on the expansion of newborn screening in pursuit of the reproductive benefits in the U.S., Denmark, and Canada. Reproductive benefit has been considered secondary to identifying treatable condition in newborn screening within the consent or mandatory systems to receive information. Moreover, the author argues that pursuing health benefit through newborn screening program is not appropriate and may be best achieved through traditional antenatal screening programs.

The article discusses a study on the prevalence of autism spectrum disorders in ex-preterm infants. A developmental outcome testing on 91 ex-preterm infants revealed that 23 of the infants had positive scores on the Modified Checklist for Autism in Toddlers (M-CHAT), and 28 of 85 infants who underwent magnetic resonance imaging (MRI) showed abnormalities. The authors suggest early screening in ex-preterm infants in order to identify and prevent autism.

The article looks into the possible ethical implications from the clinical implementation of non-invasive prenatal diagnosis (NIPD) as of August 2009. It notes that NIPD might replace current prenatal screening tests or be added to them. In addition, NIPD might be interposed between non-invasive risk screening (NIRS) and invasive prenatal diagnosis (PND) or NIPD might replace invasive PND.