Transvaginal sonographic detection of embryonic-fetal abnormalities in early pregnancy

OBJECTIVE: To estimate the detection rate of abnormalities by transvaginal ultrasound in early pregnancy. METHODS: We prospectively analyzed records of 3592 sequential pregnant women at 10-16 weeks' (singleton) gestation (mean 13 weeks and 2 days). After exclusion of 114 women, there were 3478 women in the study. Each woman underwent a transvaginal sonographic survey for fetal anomalies as well as biometric measurements. Fetuses diagnosed with malformations were followed to delivery, and those without underwent transabdominal sonography at 18-24 weeks' gestation.Results: The anomaly detection rate by transvaginal ultrasound was 51.6% (33 of 64; 95% confidence interval [CI] 38.7, 64.2) in early pregnancy, and the detection rate by transvaginal ultrasound combined with second-trimester transabdominal ultrasound was 84.4% (54 of 64; 95% CI 73.1, 92.2). Cystic hygroma and fetal hydrops were the anomalies detected most frequently by transvaginal ultrasound. Low detection rates for abnormalities of the face and of the cardiac, skeletal, and urinary systems were found even when both methods were used. CONCLUSION: Transvaginal sonography appears to be an effective way to identify many congenital fetal anomalies in early pregnancy. There is a good probability of diagnosing cystic hygroma and fetal hydrops, although other abnormalities, particularly heart defects, are associated with lower detection rates.     

Prenatal diagnosis of fetal heart failure in twin reversed arterial perfusion syndrome

Diagnosis of twin reversed arterial perfusion (TRAP) syndrome is a rare fetal anomaly that can be misdiagnosed on prenatal ultrasound. We confirmed the use of colour-flow Doppler for prenatal diagnosis of TRAP syndrome and used serial fetal echocardiography for non-invasive evaluation of the fetus. A patient with twin intrauterine pregnancy was referred to our centre with suspected intrauterine fetal demise following a 16 week ultrasound. Serial colour-flow Doppler ultrasonography demonstrated retrograde arterial flow in an acardiac twin. Following diagnosis of TRAP syndrome, serial fetal echocardiography was employed to follow the normal twin for signs of heart failure, including right atrial dilation, tricuspid regurgitation and pericardial effusion. When early signs of fetal heart failure were suspected a viable female infant was delivered at 32 weeks' gestation. We suggest that serial fetal echocardiography represents a non-invasive approach that can be used to follow fetal cardiac function of the normal twin in TRAP syndrome.     

Congenital heart disease: a retrospective study of their frequency

AIM: An early diagnosis of congenital heart disease (CHD) is necessary for the obstetrical management. METHODS: One thousand five hundred and fifty-six pregnant women underwent a fetal 2-D echocardiography from 1991 to 2002. We assessed patients who had the most common risk factor (RF): family history of CHD, diabetes mellitus, teratogen drugs, polyhydramnios, abnormal fetal growth, fetal arrhythmia, maternal age over 40 years, maternal autoimmune disease, maternal disease contracted during pregnancy, oligohydramnios, only umbilical artery, uncorrected visualization in the first level 2-D fetal echocardiography. RESULTS: In 110 morphological anomalies found 54 were complex. The malformations are not equally distributed among the different RF. The most common RF is the family history of CHD where 24 patients showed complex malformations. Another high percentage of complex malformations was found in patients with no apparent presence of RF: the diagnosis was done after an uncorrected cardiac visualization in the first level 2-D echocardiography. In the minor cardiomyopathies we did not find the prevalence of any RF. After diagnosis of complex malformations we had 15% of termination of pregnancies, 37% of the newborns are alive and in good health. CONCLUSIONS: The first RF is the family history of CHD, but a correct first level fetal 2-D echocardiography is necessary because a very high percentage of complex malformations is seen in infant whose mother did not have any RF. Ninety percent of cardiac malformations where seen in a 4 chamber view, and it is of the utmost importance also for a correct diagnosis of minor cardiomyopathies where we did not find a predominant RF.     

Sonography at the time of genetic amniocentesis to screen for fetal malformations

Obstetric ultrasound performed in conjunction with genetic amniocentesis at 14-18 weeks' gestation identified 16 fetuses with structural malformations among 4781 examinations. The outcomes for these 16 fetuses included 12 terminations, two fetal deaths, one related death six months after birth, and one transient abnormality with no apparent significant sequelae. The ultrasound examination failed to detect at least nine other fetuses with structural malformations. The relatively small size and early stage of development of the fetuses at the time of genetic amniocentesis appears to have contributed to the failure of ultrasound to detect these malformations. A brief search for fetal malformations during obstetric ultrasound performed at early genetic amniocentesis appears productive enough to be worthwhile. However, if there is a special indication to search for fetal malformations, the ultrasound examination should probably be repeated later.     

Amniotic fluid alpha-fetoprotein and acetylcholinesterase in early genetic amniocentesis

Early identification of fetal abnormalities is possible as a result of improved ultrasound resolution, chorionic villus sampling, and early genetic amniocentesis. A potential advantage of early genetic amniocentesis over chorionic villus sampling is its ability to detect neural tube defects. We obtained 476 amniotic fluid samples between ten and 15 weeks' gestation and analyzed them for karyotype and alpha-fetoprotein (AFP); 142 were also tested for acetylcholinesterase. Amniotic fluid AFP levels rose to a peak at 12-13 weeks' gestation and then gradually declined, closely approximating the pattern in fetal blood. The rate of inconclusive acetylcholinesterase results (a faint but true band) was four times higher than that later in pregnancy (10.6 versus 2.46%, respectively). However, the rate of associated fetal congenital anomalies was lower than that later in pregnancy. Chromosomal abnormalities were detected in the study group, and the association with low amniotic fluid AFP in early genetic amniocentesis levels was identical to that further along in pregnancy. These data help establish normal values for AFP in early pregnancy. With AFP and cautious interpretation of acetylcholinesterase, early genetic amniocentesis can be used for neural tube defect detection.     

Familial occurrence of isolated nonseptated nuchal cystic hygromata in midtrimester of pregnancy

OBJECTIVE: Nonseptated cystic hygromata of the fetal neck in midtrimester of pregnancy have been associated with chromosomal and structural malformations. Consequently, fetal karyotyping is frequently offered. We describe 18 families in which 18 pairs of siblings were affected by transient nonseptated cystic hygromata in utero. METHODS: Over a seven-year period, 18 families came to our attention, with a recurrent diagnosis of fetal nonseptated cystic hygromata in two subsequent pregnancies. Detailed anatomic surveys by transvaginal ultrasound were performed between 14 to 16 weeks' gestation on the basis of self-referral. Sonographic markers for fetal aneuploidy were specifically looked for. Nonseptated cystic hygroma was diagnosed when unilateral or bilateral cystic dilations in the anterolateral aspect of the fetal neck were present, as described by Bronshtein et al. (1989). All patients underwent amniocentesis, fetal echocardiography, and transabdominal follow-up ultrasound scan at 22 to 24 weeks' gestation. RESULTS: Thirty-six sibling fetuses with isolated nonseptated hygromata (unilateral n = 5; bilateral n = 31) were identified. Amniocentesis revealed normal karyotypes in all 36 fetuses, including 20 males and 16 females. Fetal echocardiograms and neonatal pediatric examinations were normal. Sonographic resolution of the cystic hygromata was noted in all cases at the 22 to 24 weeks' follow-up scan. One pregnancy, producing a female newborn, was conceived by a remarried mother. All others were reportedly conceived by the same partners. Probability calculations suggest that if our findings were explained by chance alone, a population base of 367,000 pregnancies would have to be scanned in order to find 18 pairs of siblings with nonseptated cystic hygromata. CONCLUSION: The familial occurrence and identical natural history of the cystic lesions in utero suggest the presence of an inheritable developmental syndrome affecting the lymphatic system in utero, but without long-term sequelae.     

Evaluation of fetal heart anatomy at the end of the first trimester and the beginning of the mid-trimester

OBJECTIVE: To evaluate fetal heart anatomy in the late first and in the early second trimester. MATERIALS AND METHODS: The study included 75 fetuses between 11 and 19 weeks' gestation. Exams were performed using transabdominal or transvaginal probes. RESULTS: The proportion of cases successfully visualized to all cases in particular week of pregnancy was following: 11 week--0/1 (0%), 12--1/1 (100%), 13 week--1/1 (100%), 14--18/23 (79%), 15--6/9 (67%), 16--23/27 (86%), 17--4/5 (80%), 18--6/6 (100%), 19--2/2 (100%). In 11 weeks' gestation two ventricles and two atrias could be imaged. Anatomy was seen from 12 weeks' gestation with transvaginal and from 13 weeks' gestation with transabdominal transducers. Two tricuspid regurgitations were detected. The interventricular septum was the most difficult structure to visualize in all cases. The grey scale alone was not sufficient for accurate examination of the heart and it was necessary to use colour Doppler to confirm normal forward flow to both ventricles and to identify outflow tracts. CONCLUSIONS: 1. Successful visualization of the heart in early pregnancy is possible from 12 weeks' gestation with transvaginal and from 13 weeks' gestation with transabdominal probe. 2. Fetal echocardiography between first and second trimester should lead to better understanding of fetal hemodynamics in normal and abnormal fetuses and help to introduce new therapeutic treatment in some cases.     

Prenatal diagnosis of congenital fetal arrhythmias by simultaneous pulsed Doppler velocimetry of the fetal abdominal aorta and inferior vena cava

Various methods have been used for the diagnosis of congenital fetal arrhythmias. Currently, M-mode echocardiography is the most widely used method. However, good tracings are often difficult to obtain because of unfavorable fetal positions, resulting in long durations of examination. In early gestation, the fetal heart is often too small for clear M-mode echocardiography. Doppler velocity waveforms of the fetal inferior vena cava represent the right atrial activity, whereas those of the aorta reflect ventricular contraction. Because of the proximity of the vessels, it is easy to obtain simultaneous recording in opposite channels of Doppler waveforms from both vessels. A visual relationship between the atrial and ventricular contractions may be clearly established and a diagnosis may be made. The findings of simultaneous pulsed Doppler velocimetry of the fetal aorta and inferior vena cava were assessed in different types of congenital fetal arrhythmia: congenital heart block, premature atrial ectopic contractions, premature ventricular ectopic contractions, and supraventricular tachycardia. The correct diagnosis was made as early as 13 weeks' gestation, showing the application of this method in early pregnancy.     

Screening for congenital heart disease: a move toward earlier echocardiography

Fetal echocardiography remains the mainstay for diagnosis in those pregnancies identified to be at risk for congenital heart disease (CHD). Prenatal diagnosis of CHD remains essential to provide families with thorough pregnancy options as well as allow for transfer to facilities experienced in the management of pediatric cardiac disease in cases of ongoing pregnancy. First-trimester and early second-trimester fetal echocardiography is now feasible and will be increasingly in demand as enlarged nuchal translucency and first-trimester cystic hygroma are becoming common indications for early fetal echocardiography. Although the reported performance characteristics of early fetal echocardiography are good, the technique should be viewed as an adjunct to mid-trimester echocardiography, with its biggest benefit likely to be the ability to provide earlier reassurance to couples at risk for CHD. Early fetal echocardiograms should be reserved for patients at risk for CHD and be performed in centers experienced in this technique.     

Congenital diaphragmatic hernia. Two cases with early prenatal diagnosis and increased nuchal translucency

The early ultrasound prenatal diagnosis of congenital diaphragmatic hernia is uncommon and suggests a poor outcome. We report 2 cases diagnosed at 10 and 12 weeks' gestation, with increased fetal nuchal translucency thickness (4 and 11 mm) and associated abnormalities (complex heart defect in one and many malformations in the other, including duodenal atresia and asplenia). In 1 case, the baby was delivered vaginally at 36 weeks, but neonatal death occurred; the pregnancy was terminated at 15 weeks in the second case.     

Prenatal diagnosis of Apert syndrome: report of two cases

Two de novo cases with Apert Syndrome detected prenatally are presented herein. In the first, fetal ultrasound findings of syndactyly of the hands, craniosynostosis and proptosis resulted in a prenatal diagnosis in the nineteenth week of gestation. This is the earliest prenatal diagnosis of this syndrome in a not-at-risk case. Following counseling, this pregnancy was terminated and subsequent pathological examination and DNA analysis confirmed the diagnosis of Apert Syndrome and coarctation of the aorta. In the second case, fetal ultrasound at 21 weeks' gestation revealed a hypoplastic left heart and clover-leaf skull. Following counseling, this pregnancy was also terminated. Further examination of the fetus and DNA analysis led to a diagnosis of Apert Syndrome. These cases emphasize the need to complete a thorough fetal ultrasound in cases with potentially lethal cardiac abnormality and the importance of incorporating a fetal pathologist, as well as a medical geneticist, in the investigations performed after delivery or pregnancy termination when a fetal abnormality is detected on ultrasound.     

Screening performance of first trimester nuchal translucency, ductus venosus blood flow and tricuspid regurgitation for cardiac defects

The present article summarises current knowledge on the risk of fetal cardiac malformations in fetuses with increased nuchal translucency (NT), abnormal ductus venosus blood flow pattern and tricuspid regurgitation. The risk of congenital heart disease (CHD) increases with increasing NT. However, nuchal translucency screening is only modestly efficient in the detection of congenital heart disease in low-risk pregnancies. If the nuchal translucency is normal, abnormal ductus venosus blood flow and tricuspid regurgitation show low sensitivities as single screening parameters. The combination of all 3 markers might increase the detection rates. Fetal echocardiography at 20 weeks of gestation is recommended in foetuses with an NT ≥95th percentile, as the incidence of CHD increases 2.5-fold. When the NT measurement is ≥99th percentile, the risk of CHD increases 10-fold. In this high-risk group and in fetuses with tricuspid regurgitation and/or an abnormal DV flow pattern along with an increased NT, first or early second trimester echocardiography performed by experts is warranted. The early examination of the fetal heart should be completed by a detailed echocardiogram at around 20 weeks of gestation.     

First- and second-trimester diagnosis of fetal ocular defects and associated anomalies: report of eight cases

Ocular cataract, hypertelorism, hypotelorism, anophthalmos, and microphthalmos are rare malformations commonly associated with other fetal anomalies. Previously, ocular malformations were detected only after mid-gestation. Transvaginal sonography allows the detection of many structural fetal anomalies. We describe the case reports of eight ocular anomalies among 1600 fetal screenings by transvaginal sonography at 12-18 weeks' gestation. Severe cataract was correctly diagnosed by transvaginal sonography. However, transvaginal sonography failed to detect moderate cataract in a case of repeat cataract in a subsequent gestation. Anophthalmia may sometimes be secondary to a degenerative process in middle and late pregnancy. In five of the eight described cases, the eye malformations were associated with defects of the central nervous system.     

Spontaneous fetal loss after demonstration of a live fetus in the first trimester

Chorionic villus sampling is being considered as an alternative to amniocentesis for genetic evaluation. The risk of subsequent spontaneous abortion from this invasive procedure, however, remains unclear. A prospective analysis of pregnancy outcome after ultrasound documentation of fetal viability at eight to 12 weeks' gestation was carried out in an uninstrumented population of patients to establish a background loss rate against which to evaluate the safety of chorionic villus sampling. All patients presenting to the authors' private practice from December 1983 to January 1986 were enrolled in the study. An ultrasound examination was performed at the first visit to confirm intrauterine pregnancy and assess gestational age; in gestations less than eight weeks, the sonogram was repeated four weeks later. Four hundred eighty-nine delivered patients are the subject of this study. We evaluated the differences between this group and those patients presenting either with a blighted ovum or beyond the first trimester, as well as the outcome of those patients with spotting early in gestation. This study suggests that if a live fetus is documented by ultrasonography at eight to 12 weeks' gestation, the risk of spontaneous abortion before 20 weeks' gestation in an uninstrumented population is 2.0%.     

Endovaginal sonographic diagnosis of the fetal urinary tract anomalies in early pregnancy

Transvaginal sonography has enhanced the ability to follow fetal development and detect pathologies in early gestation. Examination of the fetal urinary tract is an integral part of routine sonographic examinations in the second trimester of pregnancy and one of the major benefits of prenatal sonography is to allow early diagnosis of relatively common urinary tract malformations. Detailed evaluation of the fetal urinary tract and identification of anomalies were considered to be difficult before the 18th week of gestation prior to the use of transvaginal sonography. Using the transvaginal route, a detailed evaluation of the kidneys is possible around 12 weeks and structural anomalies of the urinary tract are being detected at an ever-increasing rate. Transvaginal sonography, owing to its proximity to the maternal pelvic organs, allows an earlier determination of the normal fetal urinary system and more accurate diagnosis and identification of fetal urinary anomalies as compared with transabdominal ultrasound. Received: 22 May 2000 / Accepted: 21 August 2000     

Changing trends in pregnancy outcome among HIV-infected women between 1985 and 1997 in two southern French university hospitals

OBJECTIVE: To determine the utility of the first-trimester fetal nuchal translucency (NT) thickness in the prediction of fetal cardiac malformations. DESIGN: Retrospective study. SETTING: Department of Obstetrics and Gynecology and Medical Genetics, University of Szeged. METHODS: The pre- and postnatal course and outcome, and the relationship between the first-trimester fetal NT thickness and fetal congenital heart defects (CHDs) in 4309 pregnancies ended up with birth or therapeutic abortion between January 1998 and June 2000 were registered. Prenatal care included first- and second-trimester fetal sonography at weeks 10-13 and 18-20, respectively. RESULTS: 4251 births and 58 first- and second-trimester therapeutic abortions due to lethal congenital malformations or chromosomal abnormalities were recorded. Altogether 209 (4.9%) congenital malformations were detected, 39 (18.7%) of which were heart defects with normal karyotype. At birth, 151 congenital malformations were diagnosed, 34 of them were known prenatally. The prevalence of CHDs was 9 per 1000 pregnancies. The measurement of fetal NT thickness was available in 35 of the 39 fetuses with heart defects: it was > or = 3 mm in 18 (51.4%) and <3 mm in 17 (48.6%). A sensitivity of 51.4% was found at a cutoff of 3mm. CONCLUSIONS: An increased NT thickness in chromosomally normal fetuses was found to be highly associated with CHDs and identified in more than half of the affected cases. Furthermore, an increased NT of > or = 3 mm can be regarded a selection criterion for early second-trimester targeted fetal echocardiography and for increased fetal and neonatal surveillance.     

Trisomy 10: ultrasound features and natural history after first trimester diagnosis

We report on the ultrasound features and natural history of trisomy 10. At 12 weeks' gestation in a routine scan examination, the fetus presented with increased nuchal translucency thickness, mild skin oedema, bilateral pleural effusion, marked micrognathia, cardiomegaly, unilateral talipes and reversed A-wave in the ductus venosus blood flow. Karyotyping on chorionic villus sampling (CVS) led to the diagnosis of trisomy 10, which was confirmed by fetal blood sampling at 22 weeks' gestation. As the parents opted to continue with the pregnancy, the natural history and following ultrasound features are described. This is the third case of trisomy 10 in the literature reporting on the physical features. The most frequent ultrasound findings presented in trisomy 10 are increased nuchal translucency, micrognathia, renal agenesis, facial cleft, limbabnormalities, cardiac defects and early severe growth retardation.     

First and early second trimester fetal heart screening

PURPOSE OF REVIEW: This review describes the recent advances in timing and effectiveness of first and early second trimester fetal echocardiography screening. RECENT FINDINGS: Fetal echocardiography can now be reliably performed from 11 weeks' gestation owing to improvements in ultrasound transducers and processors. Three-dimensional and four-dimensional ultrasound modalities in image acquisition and postprocessing analysis, including spatio-temporal image correlation, rendering three-dimensional power Doppler and high definition power flow Doppler, and B-flow have further improved our capabilities in this area. Fetal nuchal translucency measurement screening programs create a new population of at-risk pregnancies that will be referred for early fetal echocardiography. The majority of congenital heart defects, however, still occur in low-risk patients. Improved technology has lowered the gestational age at which fetal cardiac anatomy scanning can be reliably performed by properly trained and experienced examiners. SUMMARY: Early fetal echocardiography can be offered as a screening examination to at-risk and low-risk patients, with the proviso that it be repeated following screen-negative scans at mid-gestation to exclude later developing lesions.     

Syndrome of camptodactyly, ankyloses, facial anomalies, and pulmonary hypoplasia (Pena-Shokeir syndrome): obstetric and ultrasound aspects

Two siblings with Pena-Shokeir syndrome are described. This syndrome consists of polyhydramnios, intrauterine growth retardation, short umbilical cord, perinatal death, facial abnormalities, limb abnormalities including arthrogryposis, and lethal pulmonary hypoplasia. The mode of inheritance is most likely autosomal recessive. Prenatal diagnosis was made in the second pregnancy with ultrasound performed at 26 weeks' gestation. The roles of fetal akinesia and fetal apnea in the production of the various manifestations of the syndrome are detailed, and the possibility of early prenatal diagnosis is considered.     

Transvaginal sonography at 5 to 14 weeks' gestation: fetal stomach, abnormal cord insertion, and yolk sac.

Transvaginal ultrasound evaluation of the fetal digestive system was performed on 1000 fetuses at 5 to 14 weeks' gestation. The normal physiologic process of the midgut herniation into the cord as well as the embryonal connection between the yolk sac and fetus were detected. Peristalsis of the stomach was noted as early as 14 weeks' gestation. Because gastric emptying is probably improper at this age, gastric pseudomasses were visualized in some cases.