Normal and abnormal fetal cardiac anatomy

The heart is often perceived as a difficult organ to understand by ultrasound during fetal life. This is undoubtedly reflected in the low detection rate of cardiac abnormalities as compared to those of most other organ systems in the fetus. In this article we start by updating classical concepts of cardiac embryology, many of which were previously difficult to understand since they were overly simplistic or purely observational. We then lead on to the structure and growth of the fully formed fetal heart where we review the anatomy and ultrasound appearances in detail and provide comparisons with major abnormalities. We emphasise the fact that a solid understanding of cardiac anatomy can enable those involved in fetal medicine to make full use of the views of the heart that are obtained by ultrasound and which are often only transient. Copyright © 2004 John Wiley & Sons, Ltd.     

Unusual case of a fetus with congenital cystic adenomatoid malformation of the lung associated with trisomy 13

Congenital cystic adenomatoid malformation of the lung can be detected with antenatal ultrasound as hyperechogenic areas in the fetal chest. Associated extrapulmonary malformations as well as chromosomal aberrations are described as very rare. We present a case report of a fetus in the 23rd week of gestation who showed in the course of a routine ultrasound screening a large number of malformations: holoprosencephaly, arrhinencephaly, cleft palate, CCAM type III of the right inferior pulmonary lobe, ventricular septal defect and bilateral clubfeet. Chromosome analysis confirmed the suspicion of trisomy 13. The present case shows how important it is—even with malformations that are rarely accompanied by associated anomalies and which have a very good prognosis—to carry out a directed diagnosis including a fetal karyotyping. Copyright © 2003 John Wiley & Sons, Ltd.     

The prognostic factors in the prenatal diagnosis of the echogenic fetal lung

The prenatal diagnosis of an echogenic fetal lung (EFL) is now often made in the early second trimester using high-resolution ultrasound. This ultrasound appearance is usually caused by a congenital cystic adenomatoid lung malformation (CCAM), an intrapulmonary lung sequestration or obstruction of a major airway. In order to provide prognostic guidelines to parents who may be considering termination of a fetus with these findings, we have analysed a series of 11 cases diagnosed in our centre over the past 2 years in conjunction with 60 cases from major published series. The data suggest that in the absence of non-immune hydrops fetalis (NIHF) or other anomalies, the outcome for the fetuses is excellent, with over 90 per cent survival. Neither early diagnosis (24 weeks) nor the presence of mediastinal shift is a poor prognostic indicator. In addition, it appears that if NIHF is absent at diagnosis, the chance that it will develop as the pregnancy continues is small (6 per cent). Furthermore, there is a significant (up to 30 per cent) chance that this ultrasound finding will resolve in utero. The development of in utero fetal surgical techniques may be the only hope for those hydropic fetuses who appear to have a dismal prognosis.     

Prenatal diagnosis and management of fetal ovarian cysts

Congenital ovarian cysts are a pathological condition which can be diagnosed in utero by ultrasound. We report 14 consecutive diagnoses of fetal ovarian cysts, obtained in the second and third trimesters of pregnancy. Congenital ovarian cysts have almost invariably a good prognosis, and no change in the standard obstetrical management is required. However, the evolution of the disease in utero is extremely variable. The cyst may increase in size, decrease or even disappear, or undergo complications such as torsion and rupture, which may carry some risks to the fetus. When a fetal ovarian cyst is detected, serial ultrasound examinations should be performed. If one of the above complications is suspected, the option of prompt caesarean section should be considered.     

Fetal toxoplasmosis and negative amniocentesis: necessity of an ultrasound follow-up

Prenatal diagnosis of congenital toxoplasmosis relies on the PCR test on amniotic fluid and ultrasound follow-up of the fetus. We report two cases of toxoplasma infection during the first trimester of gestation with a discrepant diagnosis of fetal infection. PCR performed more than four weeks after the estimated date of contamination was negative. Ultrasound follow-up was normal up to the third trimester when major hydrocephalus was detected, leading to pregnancy termination. In both cases, post-mortem examination revealed a diffuse infection with severe brain lesions. These observations confirm the necessity to continue a monthly ultrasound follow-up, even if amniocentesis is negative, in case of fetal toxoplasma infection in pregnancy. Copyright © 2003 John Wiley & Sons, Ltd.     

Prenatal diagnosis of congenital cytomegalovirus infection in 189 pregnancies with known outcome

An Erratum has been published for this article in Prenatal Diagnosis 21(7) 2001, 605. Prenatal diagnosis (PD) of fetal cytomegalovirus (CMV) infection was performed in 242 pregnancies, with known outcome in 189 cases. In 141/189 pregnancies, PD was carried out on account of suspicious maternal CMV serology up to gestational week (WG) 23, and in 48 cases on account of abnormal ultrasonic findings detected between WG 18 and 39. Chorionic villus samples (n=6), amniotic fluid (AF, n=176) and/or fetal blood specimens (n=80) were investigated for detection of virus by cell culture, shell vial assay, PCR and/or CMV-specific IgM antibodies. Of 189 fetuses correctly evaluated by CMV detection either in fetal tissue following therapeutic abortion/stillbirth (n=24) or in urine of neonates within the first 2 weeks of life (n=33), 57 were congenitally infected. In women with proven or suspected primary infection, the intrauterine transmission rates were 20.6% (7/34) and 24.4% (10/41), respectively. Of the congenitally infected live-born infants, 57.6% (19/33) had symptoms of varying degree. The overall sensitivity of PD in the serologic and ultrasound risk groups was 89.5% (51/57). A sensitivity of 100% was achieved by combining detection of CMV-DNA and CMV-specific IgM in fetal blood or by combined testing of AF and fetal blood for CMV-DNA or IgM antibodies. There was no instance of intrauterine death following the invasive procedure. The predictive value of PD for fetal infection was 95.7% (132/138) for negative results and 100% (51/51) for positive results. Correct results for congenital CMV infection by testing AF samples can be expected with samples obtained after WG 21 and after a time interval of at least 6 weeks between first diagnosis of maternal infection and PD. In case of negative findings in AF or fetal blood and the absence of ultrasound abnormalities at WG 22–23, fetal infection and neonatal disease could be excluded with high confidence. Positive findings for CMV infection in AF and/or fetal blood in combination with CMV suspicious ultrasound abnormalities predicted a high risk of cytomegalic inclusion disease (CID). Furthermore, detection of specific IgM antibodies in fetal blood was significantly correlated with severe outcome for the fetus or the newborn (p=0.0224). However, normal ultrasound of infected fetuses at WG 22–23 can neither completely exclude an abnormal ultrasound at a later WG and the birth of a severely damaged child nor the birth of neonates which are afflicted by single manifestations at birth or later and of the kind which are not detectable by currently available ultrasonographic techniques. Copyright © 2001 John Wiley & Sons, Ltd.     

The 18-week fetal examination and detection of anomalies

From its beginning in the fifties the use of ultrasound in gynaecology and obstetrics has expanded extensively. Ultrasound technology has taken us from a time when the mother was our prime focus to the present where it is the unborn baby. Ultrasound assessments may have significant consequences for pregnancy care by optimizing the time, the mode and the location of the delivery as well as preparing the postnatal staff for a prenatally defined fetal problem. A major factor in the development was the groundbreaking work of an obstetrician, Ian Donald, and an engineer, Tom Brown, at Queen Mother's Hospital in Glasgow, who produced an ultrasound instrument called the Diasonograph. The first screening program offering a systematic ultrasound examination to a large pregnant population began in Malmoe, in 1973 and aimed to detect twins. Since then the examination has evolved over the years to include a systematic evaluation of the intrauterine contents. A number of randomized controlled trials have been reported and several large studies have reported the efficiency of routine fetal examinations for the detection of anomalies. Detection rates for the various subsets are presented. The learning curve regarding the ability to detect anomalies and the importance of proper training has also been shown. The procedure ‘routine fetal examination’ has been significant in supporting the continuous development of fetal medicine. The consequences of the improved dating of every pregnancy and the in utero transport of a sick fetus rather than an emergency transportation of a sick neonate, have an established evidence base. Ultrasound technology has had a remarkable ability to trigger great technical minds to move the technology forward year after year. Through a continuous cooperation between technicians and clinicians, this impressive technology of ultrasound will continue to support our work for the unborn child. Copyright © 2010 John Wiley & Sons, Ltd.     

Short communication the natural history of fetal cytomegalovirus infection as assessed by serial ultrasound and fetal blood sampling: A case report

A patient in whom intrauterine fetal cytomegalovirus (CMV) infection was diagnosed at approximately 25 weeks' gestation is presented. The fetus was evaluated by serial fetal blood samplings and ultrasound examinations. The fetus manifested evidence of severe thrombocytopenia and hepatic inflammation, with recovery over a period of approximately 8 weeks. The initial sonographic findings of marked fetal ascites and cardiomegaly gradually resolved; ventriculomegaly developed during the third trimester. At delivery, the baby was morphologically normal with the exception of mild ventriculomegaly. Cord blood was negative for CMV IgM but urine was culture-positive for CMV. At age 3, the child has a severe but stable unilateral hearing deficit and is otherwise developmentally normal. This case demonstrates the utility of serial ultrasound and fetal blood sampling in the prenatal diagnosis and management of fetal CMV infection.     

Noninvasive detection of fetal sex: the laboratory diagnostician's view

Toward the end of the twentieth century it was discovered that cell-free fetal DNA sequences could be detected in maternal blood plasma. Initially, Y-chromosome sequences originating from male fetuses were targeted in cell-free DNA extracted from maternal plasma in order to demonstrate proof of this concept towards the development of noninvasive prenatal diagnosis methods. Clinical application of this approach is now possible. Fetal sex can be detected through a procedure that is noninvasive with respect to the fetus. Specifically, the presence of Y-chromosome sequences in maternal blood plasma indicates that the fetus is male, whereas lack of a signal will indicate that the fetus is female. Fetal sex can be detected very early, from at least the 7th week of pregnancy (and even earlier, according to several studies), about two months before this information is available through ultrasound scanning. Although the controversial issue of fetal sexing is not new, it is expected that with the availability of an accurate noninvasive test, public interest will rise. It is therefore imperative that an authorized committee of experts in each country generates an official policy regarding application of the test. Copyright © 2006 John Wiley & Sons, Ltd.     

The history of the second-trimester sonographic markers for detecting fetal Down syndrome,and their current role in obstetric practice

This review summarizes the development, history and use of second-trimester sonographic markers for the detection of fetal Down syndrome over three decades. Starting with the nuchal fold thickening in 1985 and culminating in the genetic sonogram in the 1990s. The combination of second-trimester serum screening with the ultrasound markers improved the detection rate of affected fetuses but also allowed patients to decrease their risk of carrying a fetus with Down syndrome if the genetic sonogram was normal. More recently the role of the genetic sonogram and its markers have changed with the wide spread use of first-trimester screening. This prior screening ultimately decreases the prevalence of fetal Down syndrome in the second trimester to less than 85% of what it was in the first-trimester as most fetuses with Down syndrome are now identified early. Current interpretation of the second-trimester Down syndrome markers must be based on the result of the first trimester and combined screening to achieve the most accurate risk estimate of an affected fetus. Copyright © 2010 John Wiley & Sons, Ltd.     

Diagnosis,surveillance, and treatment of the anemic fetus using middle cerebral artery peak systolic velocity measurement

The in utero course of the anemic fetus has improved dramatically, owing to early diagnosis and cordocentesis transfusion. In utero invasive procedures such as amnio- and cordocentesis have become important modalities in the evaluation and treatment of anemic fetuses. However, they carry risks for both the mother and fetus. A valid and sensitive noninvasive means of following the anemic fetus is the evaluation of changes in the middle cerebral artery peak systolic flow velocity (MCA-PSV). This is a sensitive tool for both the evaluation of fetal anemia and response to treatment. Intracerebral vessels respond earliest to the fetal anemic state, and are readily accessible for ultrasound examination. We describe the methodology and evolving clinical applications of MCA-PSV measurement in the fetus, through an overview of the literature describing the development and application of MCA-PSV measurement in fetuses at risk of fetal anemia of various immune and nonimmune etiologies, illustrated by index cases from our center. MCA-PSV measurement is essential in the diagnosis, evaluation, and management of cases of fetal anemia. The use of this modality lessens the need for invasive procedures. The method is readily accessible and should be integrated into the repertoire of all obstetric ultrasound centers. Copyright © 2006 John Wiley & Sons, Ltd.     

Detection of fetal structural abnormalities at the 11–14 week ultrasound scan

The aim of this study was to evaluate the detection of fetal structural abnormalities by the 11–14 week scan. 2853 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week and the fetal skull, brain, spine, abdominal wall, limbs, stomach and bladder were examined. Following the scans the patientes were examined in the second or third trimester of pregnancy. An isolated increased nuchal translucency was not considered an abnormality. However, these patients had an early echocardiography assessment. Fetal structural abnormalities were classified as major or minor and of early or late onset. A total of 130 (4.6%) defects were identified and 29 (22.3%) of these were diagnosed at the 11–14 week scan, including nine cardiac defects associated with increased nuchal translucency. The antenatal ultrasound detection rate was 71.5%, and 31.2% were detected in the first-trimester assessment. 78.8% of the major defects were diagnosed by the prenatal scan and 37.8% by the 11–14 week scan. Fetal structural abnormalities at the 11–14 week scan were detected in approximately 22.3% of the cases, therefore, a second-trimester anomaly scan is important in routine antenatal care to increase the prenatal detection of fetal defects. Copyright © 2002 John Wiley & Sons, Ltd.     

The time of appearance and disappearance of fetal DNA from the maternal circulation

A single copy Y-chromosome DNA sequence was amplified using the polymerase chain reaction (PCR) from the peripheral blood of 30 women who had achieved a pregnancy through an in vitro fertilization (IVF) programme. The time of conception was known precisely and was confirmed by serial ultrasound scans. Conceptions were dated as the number of weeks after fertilization plus 2, to give a time equivalent to the obstetric menstrual dating of the pregnancy (LMP). Y-chromosome-specific DNA was detected in all pregnancies with a male fetus (18/30). The earliest detection was at 4 weeks and 5 days, and the latest at 7 weeks and 1 day. Y-chromosome-specific sequences were no longer detected in any of the male pregnancies 8 weeks after delivery. No Y-chromosome sequences were detected in any of the pregnancies where only female babies were delivered. This demonstrates that fetal DNA appears in the maternal circulation early in the first trimester, that it can be identified in all pregnancies tested by 7 weeks, that it continues to be present throughout pregnancy, and that it has been cleared from the maternal circulation 2 months after parturition. Early non-invasive prenatal diagnosis for aneuploidies and inherited disorders will be possible in all pregnancies if fetal cells can be isolated free from maternal contamination (or identified accurately in the presence of maternal cells) without problems of contamination from previous pregnancies.     

Prenatal diagnosis of fetal glioblastoma multiforme

Intracerebral tumours of the fetus are very rare conditions, most often presenting clinically as polyhydramnios and hydrocephalus. These conditions can be diagnosed with ultrasound and clearly differentiated from hydrocephalus and other intracranial lesions. The following report is of a case of an intracerebral tumour (glioblastoma multiforme) diagnosed at 33 weeks in utero using ultrasound. The prognosis for this condition is universally poor.     

Tertiary centre referral of small-for-gestational age pregnancies: A 10-year retrospective analysis

Between 1981 and 1991, 461 pregnant women between 15 and 40 weeks of gestation (mean 30 weeks) with completed follow-up were referred to our centre for prenatal diagnosis because of a small-for-gestational age (SGA) fetus or combined SGA and structural abnormality. The referral diagnosis was based either on biparietal diameter measurements or on measurement of the upper-abdominal circumference. SGA in our centre was defined as a fetal upper-abdominal circumference below the tenth centile. SGA was confirmed by ultrasound in 75 per cent of the fetuses, whilst combined SGA and fetal structural abnormality was substantiated in only 16 per cent of the fetuses. However, in our centre structural abnormality was detected in 34 fetuses who were referred because of SGA alone. Nearly half of the structurally normal SGA fetuses displayed a normal head-to-abdomen (H/A), ratio, whereas an increased H/A ratio was found in 13/15 fetuses with an abnormal karyotype. An abnormal karyotype was present in 20 fetuses, which is 7 per cent of the total SGA population. Nearly 50 per cent represented triploidy associated with oligohydramnios. SGA was confirmed by a birth weight below the tenth centile in 89 per cent, below the fifth centile in 77 per cent, and below the 2·3rd centile in 55 per cent of infants. Structural abnormality was confirmed in 65 per cent of infants, whereas in 19 per cent of infants the abnormality was missed or a misclassification was made. Perinatal mortality was 31 per cent for all SGA fetuses, 27 per cent for SGA fetuses without anomalies, and 64 per cent for SGA fetuses with structural abnormality.     

Cavum veli interpositi: prenatal diagnosis and postnatal outcome

We describe the finding of cavum veli interpositi (CVI) on fetal ultrasound and MRI and the postnatal MRI and developmental follow-up in two cases. The first case was diagnosed on fetal ultrasound at 33 weeks' gestation and confirmed on fetal MRI. No abnormalities were detected on postnatal examinations and the brain MRI at 1 year of age showed no changes. At 4 years of age, his growth and development were normal. The second case was diagnosed with CVI on fetal ultrasound and MRI at 33.5 weeks' gestation. Postnatal examination showed no abnormalities, and brain MRI at 8 months of age revealed that the CVI was unchanged, but there was a dilated cavum septum pellucidum and cavum vergae. Her growth and development during the first 4 years of life were normal. CVI is a rare fetal ultrasound finding, which seems to be benign. However, further neurodevelopmental follow-up is needed to confirm this observation. Copyright © 2005 John Wiley & Sons, Ltd.     

Fetal cardiac scanning today

The ability to examine the structure of the fetal heart in real-time started over 30 years ago now. The field has seen very great advances since then, both in terms of technical improvements in ultrasound equipment and in dissemination of operator skills. A great deal has been learnt about normal cardiac function in the human fetus throughout gestation and how it is affected by pathologies of pregnancy. There is increasing recognition of abnormal heart structure during routine obstetric scanning, allowing referral for specialist diagnosis and counselling. It is now possible to make accurate diagnosis of cardiac malformations as early as 12 weeks of gestation. Early diagnosis of a major cardiac malformation in the fetus can provide the parents with a comprehensive prognosis, enabling them to make the most informed choice about the management of the pregnancy. Copyright © 2010 John Wiley & Sons, Ltd.     

The influence of prenatal diagnosis on postnatal outcome in patients with structural congenital heart disease

Examination of the fetal heart has become an established part of mid-trimester anomaly scanning. Along side this has emerged the ability to diagnose congenital heart disease in the fetus with accuracy. Despite this, the development of screening programmes to look for fetal cardiac disease has only been partially successful. Furthermore, when detected, there seems to be little survival advantage associated with prenatal diagnosis. Demonstrating such an advantage is complicated by the nature of fetal cardiac disease, which tends to be severe and is often associated with extra-cardiac abnormalities. More selective studies, mostly involving small numbers of cases, are now beginning to demonstrate both improved survival and reduced morbidity in prenatally diagnosed infants presenting to cardiac intensive care units compared to those with a postnatal diagnosis. Copyright © 2004 John Wiley & Sons, Ltd.     

Artificial intelligence in obstetric ultrasound: A scoping review

The objective is to summarize the current use of artificial intelligence (AI) in obstetric ultrasound. PubMed, Cochrane Library, and ClinicalTrials.gov databases were searched using the following keywords “neural networks”, OR “artificial intelligence”, OR “machine learning”, OR “deep learning”, AND “obstetrics”, OR “obstetrical”, OR “fetus”, OR “foetus”, OR “fetal”, OR “foetal”, OR “pregnancy”, or “pregnant”, AND “ultrasound” from inception through May 2022. The search was limited to the English language. Studies were eligible for inclusion if they described the use of AI in obstetric ultrasound. Obstetric ultrasound was defined as the process of obtaining ultrasound images of a fetus, amniotic fluid, or placenta. AI was defined as the use of neural networks, machine learning, or deep learning methods. The authors’ search identified a total of 127 papers that fulfilled our inclusion criteria. The current uses of AI in obstetric ultrasound include first trimester pregnancy ultrasound, assessment of placenta, fetal biometry, fetal echocardiography, fetal neurosonography, assessment of fetal anatomy, and other uses including assessment of fetal lung maturity and screening for risk of adverse pregnancy outcomes. AI holds the potential to improve the ultrasound efficiency, pregnancy outcomes in low resource settings, detection of congenital malformations and prediction of adverse pregnancy outcomes.     

Accuracy of ultrasound diagnoses in pregnancies complicated by suspected fetal anomalies

Referral of pregnancies complicated by suspected fetal anomalies to level III perinatal centres for further evaluation and management is increasing as use of real-time ultrasound spreads, but the sensitivity and specificity of the prenatal diagnoses made in this population are unknown. We undertook a prospective study that followed pregnancies referred to a designated programme dealing with suspected fetal abnormalities. Follow-up of 257 pregnancies revealed that 282 separate anomalies were accurately diagnosed in 212 cases. Normal anatomy was correctly predicted in 42 cases, 16 per cent of the referred population. False-positive and false-negative rates were 1·5 per cent (4/257) and 2 per cent (1/46), respectively. However, 37 per cent of those infants born with anomalies had additional problems not prenatally detected by ultrasound. These results indicate that prenatal ultrasound diagnoses are remarkably accurate overall but that they may be insensitive to associated anomalies in individual cases.