Ultrasound Screening For Fetal Anomalies Research Articles

Prenatal ultrasound screening and pregnancy outcomes in HIV-positive women in Germany: results from a retrospective single-center study at the Charité-Universitätsmedizin Berlin.

The aim of this study was to investigate the rate of Mother-to-child-transmission (MTCT) in women living with HIV (WLWH) in a tertiary care institution. Furthermore, we aimed to assess prenatal ultrasound screening for fetal anomalies and outcomes in high-risk pregnancies due to maternal HIV infection." In this single-center study, retrospective data related to pregnancy and childbirth were collected from 420 WLWH. All data were evaluated descriptively. From January 2014 to December 2020, a total number of 420 pregnant WLWH delivered 428 newborns. 415 (98.8%) were receiving antiretroviral therapy (ART) and 88.8% had a viral load of < 50 cop/ml prior delivery. 46 (11%) of the newborns were born prematurely. Low birth weight < 2500g occurred in 38 (9.1%) of the children. 219 (52.1%) caesarean sections (CS) were performed. The most frequent indication for an elective CS was a previous CS (70.2%). 8 severe malformations were detected using first and second trimester ultrasound. In one child, MTCT was detected postpartum, resulting in an HIV transmission rate of 0.2% in the presented cohort. The low rate of vertical HIV-transmission in our cohort of 0.2% is the result of interdisciplinary prenatal care and high experience of healthcare providers in treatment of WLWH. Despite high ART coverage and adherence, good maternal immune system and very low vertical HIV transmission rate, maternal HIV infection remains a challenge in obstetric care. First and second ultrasound screening should be a part of prenatal care for HIV-infected women and should also be offered to HIV-negative women. A reduction of the rate of unnecessary elective caesarean deliveries in WLWH is necessary to reduce complications in subsequent pregnancies.

Regulation and financing of prenatal screening and diagnostic tests for fetal anomalies in Europe

Abstract Background Pregnant women frequently use prenatal screening and diagnostic tests to detect fetal structural and chromosomal anomalies; however, the regulation and financing of these examinations differ substantially across countries. In this paper we focus on the provision, financing and setting of the following tests in selected European countries: First Trimester Screening (FTS)/Combined Test (CT), Non-invasive Prenatal Test (NIPT), second-trimester ultrasound screening for fetal anomalies, amniocentesis/chorionic villus sampling. Methods We chose 6 European countries that differ in various criteria (e.g., health/insurance system, geographical location) to illustrate the range of possible regulations and forms of funding: Germany, Switzerland, Netherlands, United Kingdom, Norway, Italy. We conducted a comprehensive hand search and consulted experts from the 6 countries using a questionnaire. Results The results are based on 11 completed expert questionnaires and 22 published sources. The heterogeneity of the provision, regulation and financing of the tests concerns in particular the choice of the first-line screening test for fetal trisomies (FTS/CT, NIPT or the identification of risk factors), the implementation of the NIPT, the reimbursement of the tests, the uptake of the examinations, but also the professional groups responsible for antenatal care (midwives, gynaecologists). There are some similarities between countries, e.g., concerning the provision and financing of invasive tests and of the ultrasound screening for fetal anomalies in the second trimester. Conclusions The results highlight the significant heterogeneity between European countries regarding prenatal screening and diagnostic testing for fetal anomalies. Due to the many ethical aspects of the topic, a broad societal discourse with the relevant interest groups and stakeholders seems to be necessary. Decision-makers should pay particular attention to high-quality and non-directive counselling. Key messages

Ultrasound screening for fetal anomalies in a single center: diagnostic performances twenty years after the Eurofetus Study

Purpose To establish the accuracy of ultrasound in detecting fetal anomalies looking at the concordance between prenatal and postnatal diagnosis. Materials and methods Retrospective analysis of concordance between prenatal and postnatal/autoptic diagnosis of fetuses with congenital abnormalities. Data are from a single center (Policlinico di Modena); all fetuses included were born between 2017 and 2018 and with a follow-up of at least 6 months. We included all deliveries (including perinatal deaths) and termination of pregnancy (TOP) for fetal indication. We calculated sensibility, sensitivity, Positive and Negative Likelihood Ratio, positive and negative predictive value of ultrasound. Results During the study period 5920 deliveries, including perinatal deaths, and 28 TOP for fetal indication were registered at our center. The prevalence of congenital malformations was 2.6% (153/5920). At least one ultrasound was performed in our center in 1250 women delivering in our unit. All 28 TOP had the anomaly scan performed in our center. Among the total 1278 women scanned in our unit, there were 128 (10%) suspicious scans. In 5/128 (3.9%) cases we diagnosed a false alarm; in 8/128 (6.2%) cases an evolutive malformation with in-utero regression. The prenatal diagnosis was confirmed in 77 (60.2%) cases at birth and in 28/128 (21.9%) at postmortem analysis while there were 10/128 false positive (7.8%). Among the 153 congenital malformations diagnosed at birth, the anomaly scan was performed in our Prenatal Medicine Unit in 92 (60.1%) fetuses. Among these, there were 15 false negatives (9.8%) while in 77/92 (83.7%) the malformation at birth agreed with the sonographic diagnosis. Sensitivity and specificity of ultrasound were 87.5% (IC95 80.2–92.8%) and 99.1% (IC95 98.4–99.6%) respectively with a Positive Likelihood Ratio and Negative Likelihood Ratio of 101.3 (IC95 54.5–188.5) and 0.13 (IC95 0.08–0.2); Positive Predictive Value and Negative Predictive Value were 91.3% (IC95 85–95.1%) and 98.7(IC95 98–99.2%). Conclusion Anomaly scan in pregnancy allows the diagnosis of congenital malformations with a sensibility of 87.5% and specificity of 99.1%. The main limitations of this study are its retrospective design and that it was conducted in a single referral center.

Pattern and outcome of prenatally diagnosed major congenital anomalies at a Nigerian Tertiary Hospital.

The prevalence of major congenital anomalies (CAs) shows wide variations depending on geographical location and may range from <1% to 8% and it causes between 20% and 30% of perinatal deaths. In Nigeria, the prevalence of CAs may be underestimated with the general reliance on mostly livebirths ranging between 0.5% and 2.8% exempting cases of miscarriage and abortions. The purpose of this study was to determine the epidemiologic pattern and outcome of major CAs detected prenatally at the University College Hospital, Ibadan, Nigeria, over a 4-year period. This hospital-based descriptive study highlights the prevalence and pattern of prenatally diagnosed fetal anomalies among the pregnant women who presented for routine prenatal ultrasound screening within the study period. Demographic details, associated risk factors, and fetal anomaly type in the fetuses were recorded using a prepared pro forma and were analyzed. Prenatal ultrasound screening for fetal anomalies was performed on 989 fetuses (including 15 sets of twins and 1 set of triplets) during the study period, out of which 62 (6.3%) had CAs. Of the 62 with CAs, 37 (59.7%) were major and 25 (40.3%) were minor. Majority of the fetuses with major anomalies were found among women aged 30-34 years and most were detected during the routine 18-22 weeks' anomaly scan. The major anomalies were most common in central nervous system. Nine (14.5%) pregnancies were terminated before term and 8 (29.6%) babies had different postnatal surgical interventions. Eleven (17.7%) of the fetuses with anomalies died in the perinatal period. CAs remain a major contributor to perinatal morbidity and mortality in Nigeria. Since most are idiopathic, early prenatal detection with ultrasound may facilitate improved diagnosis and the reduction of overall perinatal morbidity and mortality in the Nigerian setting.

Prenatal Ultrasound Screening for Fetal Anomalies and Outcomes in High-Risk Pregnancies due to Maternal HIV Infection: A Retrospective Study

Objective. To assess the prevalence of prenatal screening and of adverse outcome in high-risk pregnancies due to maternal HIV infection. Study Design. The prevalence of prenatal screening in 330 pregnancies of HIV-positive women attending the department for prenatal screening and/or during labour between January 1, 2002 and December 31, 2012, was recorded. Screening results were compared with the postnatal outcome and maternal morbidity, and mother-to-child transmission (MTCT) was evaluated. Results. One hundred of 330 women (30.5%) had an early anomaly scan, 252 (74.5%) had a detailed scan at 20–22 weeks, 18 (5.5%) had a detailed scan prior to birth, and three (0.9%) had an amniocentesis. In seven cases (2.12%), a fetal anomaly was detected prenatally and confirmed postnatally, while in eight (2.42%) an anomaly was only detected postnatally, even though a prenatal scan was performed. There were no anomalies in the unscreened group. MTCT occurred in three cases (0.9%) and seven fetal and neonatal deaths (2.1%) were reported. Conclusion. The overall prevalence of prenatal ultrasound screening in our cohort is 74.5%, but often the opportunity for prenatal ultrasonography in the first trimester is missed. In general, the aim should be to offer prenatal ultrasonography in the first trimester in all pregnancies. This allows early reassurance or if fetal disease is suspected, further steps can be taken.

Informed decision‐making about the fetal anomaly scan: what knowledge is relevant?

This study had two objectives. The first was to determine the contents of relevant knowledge needed for informed decision-making (IDM) in second-trimester ultrasound screening for fetal anomalies, with the goal of developing a knowledge measure for use in large-scale program evaluations. The second was to compare the contents of decision-relevant knowledge for second-trimester ultrasound screening with those for first-trimester screening for Down syndrome using the combined test. A generic list of content domains for knowledge about screening was extracted from the literature. Items reflecting specific knowledge domains for second-trimester ultrasound screening were constructed. An expert group of professionals and pregnant women expressed whether domains and items represented decision-relevant knowledge. Regarding second-trimester ultrasound screening, the experts scored all knowledge domains as (very) important. The meaning of an abnormal test result, the disorders being screened for, and the purpose of the screening were rated as very important for IDM, along with the voluntary nature of the test. All knowledge domains were included in the final measure. Importance ratings of knowledge domains for first-trimester Down syndrome screening and for second-trimester ultrasound screening were highly correlated (Pearson's r = 0.71). The domain 'consequences of a positive test result' was considered more important in first-trimester Down syndrome screening than in second-trimester ultrasound screening. We have developed a knowledge measure for second-trimester ultrasound screening for fetal anomalies for use in routine, large-scale program evaluations.

Comparison of first and second trimester ultrasound screening for fetal anomalies in the southeast region of Sweden

To assess and compare the sensitivity for detecting fetal anomalies and chromosomal aberrations by routine ultrasound examination performed in the second trimester with results from an examination performed at 11-14 weeks gestation. Observational study. Five centers in the southeast region of Sweden. A total of 21,189 unselected pregnant women. The scan was performed at one center in the first trimester and at the remaining four centers in the second trimester. Outcome measures resulting from first trimester scanning were compared with those from the second trimester scanning. Detection rates of fetal structural anomalies and chromosomal aberrations. Results. At the first trimester scan 13% of all anomalies were detected, and at the second trimester scan 29% were detected. Lethal anomalies were detected at a high level at both times: 88% in the first, 92% in the second. The percentage of chromosomal aberrations discovered at the early scan was 71%, in the later 42%. The percentage of heart malformations detected was surprisingly low. The results showed the advantages of the later scan in discovering anomalies of the heart, urinary tract and CNS, and of the early scan in discovering chromosomal aberrations. Lethal malformations were detected at a high level in both groups, but detection of heart malformations needs improvement.

Ultrasound screening for fetal anomalies in Southern Sweden: a population-based study

Ultrasound screening for fetal anomalies in Southern Sweden: a population-based study

Ultrasound screening for fetal anomalies in Southern Sweden: a population‐based study

The accuracy of ultrasound in the diagnosis of congenital malformations has been the subject of many studies. Most of these are hospital-based studies over a limited period of years presenting high detection rates and also relatively high incidence of major malformations. We present here a large population-based study over a long period of years. The prenatal diagnoses are compared with the diagnoses of the newborns and aborted fetuses, including autopsy results. The detection rate of some common structural malformations is studied. The overall detection rate of malformations in our study was 28.4%. We noticed an improved detection rate of heart defects and cleft lip during the study period. The prevalence of malformations in the population was 2.6%. The false positive diagnoses were few, 54 cases, and mainly of a mild nature. Ultrasound screening of fetal malformations in our population has a low false positive rate and even though the overall sensitivity is low, 28.4%, the detection rate for many common structural malformations is relatively good.

Antenatal ultrasound screening for fetal abnormalities: a systematic review of studies of cost and cost effectiveness.

To review systematically and critically evidence to derive estimates of costs and cost effectiveness of routine ultrasound screening for fetal abnormalities. A systematic review of the literature using explicit criteria for inclusion of primary research studies, a stated electronic strategy to identify relevant material, and an explanation of why apparently relevant studies have not been included. All countries of origin were included. The results of this review are important to obstetricians and to health service managers in the allocation of resources, and others who are considering conducting further research in this area. Formal economic evaluations and cost studies of routine ultrasound screening. Costs of routine anomaly scans and costs of other procedures carried out as part of antenatal screening by ultrasound. One hundred and ninety-nine studies were identified in total, 24 reaching the final stage of the review. Nine studies were formal economic evaluations and 15 reported costs studies or clinical effectiveness studies with some assessment of cost. The studies were carried out mainly in Europe and in the United States. After quality criteria were applied, data were extracted from six of the economic evaluations and six of the costs studies. One economic evaluation conducted alongside a randomised trial concluded that screening for fetal abnormalities by ultrasound in the second trimester was cost effective, compared with routine antenatal care. The costs of routine scans ranged from Pound Sterling 18 to Pound Sterling 204 and for non-routine ranged from Pound Sterling 32 to Pound Sterling 113. There is a lack of good quality primary studies of the costs of ultrasound screening in pregnancy. Typically, economic evaluations of ultrasound screening have been based on poor quality evidence of clinical effectiveness. There is a need for more published data on the costs and cost effectiveness of routine ultrasound screening for fetal anomalies, and of the longer term consequences of screening for anomalies.

Antenatal ultrasound screening for fetal abnormalities: a systematic review of studies of cost and cost effectiveness

Objective To review systematically and critically evidence to derive estimates of costs and cost effectiveness of routine ultrasound screening for fetal abnormalities. Design A systematic review of the literature using explicit criteria for inclusion of primary research studies, a stated electronic strategy to identify relevant material, and an explanation of why apparently relevant studies have not been included. Setting All countries of origin were included. The results of this review are important to obstetricians and to health service managers in the allocation of resources, and others who are considering conducting further research in this area. Main outcome measure Formal economic evaluations and cost studies of routine ultrasound screening. Costs of routine anomaly scans and costs of other procedures carried out as part of antenatal screening by ultrasound. Results One hundred and ninety-nine studies were identified in total, 24 reaching the final stage of the review. Nine studies were formal economic evaluations and 15 reported costs studies or clinical effectiveness studies with some assessment of cost. The studies were carried out mainly in Europe and in the United States. After quality criteria were applied, data were extracted from six of the economic evaluations and six of the costs studies. One economic evaluation conducted alongside a randomised trial concluded that screening for fetal abnormalities by ultrasound in the second trimester was cost effective, compared with routine antenatal care. The costs of routine scans ranged from £18 to £204 and for non-routine ranged from £32 to £113. Conclusions There is a lack of good quality primary studies of the costs of ultrasound screening in pregnancy. Typically, economic evaluations of ultrasound screening have been based on poor quality evidence of clinical effectiveness. There is a need for more published data on the costs and cost effectiveness of routine ultrasound screening for fetal anomalies, and of the longer term consequences of screening for anomalies.

Reduced costs of congenital anomalies from fetal ultrasound: are they sufficient to justify routine screening in the United States?

No comprehensive benefit-to-cost analysis has been performed to date on a policy of routine ultrasound screening for fetal anomalies in the United States. We performed a preliminary benefit-to-cost analysis drawing upon our previous research on the cost or birth defects in the United States and upon the literature regarding (1) the sensitivity of ultrasound in detecting congenital anomalies, (2) the rate at which pregnancies are terminated upon detection of fetal anomalies, (3) the number of ultrasounds performed per pregnancy under a routine screening policy, and (4) the average cost of an ultrasound. We assumed a 100% subsequent replacement rate of terminated pregnancies with a normal child, an assumption most favorable to routine screening. The benefit-to-cost ratio ranged from .33 to 3, suggesting that a routine screening policy for fetal anomalies is of uncertain net societal benefit. Routine screening may be justified, however, based on standards that elude the methods for establishing societal benefits adopted in this analysis.

Ethical dimensions of ultrasound screening for fetal anomalies.

The ethical dimensions of the debate on routine ultrasound are analyzed. The central role of the informed consent process, based on a respect for the autonomy of the pregnant woman, is presented. Failure to offer quality ultrasound in clinical settings where it is available restricts access to pregnant women to the diagnosis of fetal anomalies and therefore restricts access to the options of abortion and fetal therapy. We show that beneficence- and justice-based considerations do not supersede respect for autonomy.

Ultrasound screening for fetal anomalies in developing countries: wish or reality?

The main problems related to the screening of fetal anomalies in developing countries do include general ones of limited resources for health care and specific ones related to ultrasonographic practice, education, and instrumentation. The strategy to improve the detection of fetal anomalies is reliable, but has to be targeted to the following cornerstones: maintenance of obligate minimum of quality in perinatal care, establishment of three ultrasonographic examinations as a basic prerequisite of antenatal care, enhanced importance of first trimester screening, and a uniform program of education of sonographers, emphasizing the standardization of basic examination. Because of limited resources for perinatal care, we have to be highly responsible in selection of echographic instrumentation and appropriate education, subject to rigorous cost-benefit analysis.