Nasal bone assessment in fetuses with trisomy 21 at 16-24 weeks of gestation by three-dimensional ultrasound.

OBJECTIVE: This study aims to investigate the length and shape of the nasal bones in fetuses with trisomy 21 at 16-24 weeks' gestation. METHOD: We acquired three-dimensional volumes of the fetal profile from 41 fetuses with trisomy 21. The multiplanar mode was used to measure nasal bone length in the exact midsagittal plane and in parasagittal and oblique views of the fetal face and to examine the nasal bones in the coronal plane. RESULTS: There was bilateral absence of the nasal bones in 11 (26.8%) cases and unilateral absence in one (2.4%). In 29 (70.7%) cases with present nasal bones, there was progressive over-estimation of nasal bone length when measured in parasagittal and oblique views compared to measurements taken in the exact midsagittal plane. In the coronal plane, in 18 of 29 (62.1%) fetuses with trisomy 21, the nasal bones were divergent, whereas in 131 of 135 (97.0%) euploid fetuses, the bones were entirely fused in the midline. CONCLUSION: Parasagittal and oblique scanning planes may produce over-estimation of nasal bone length in trisomy 21 fetuses because they often have divergent nasal bones. Consequently, it is essential that measurement of nasal bone length is carried out in the exact midsagittal plane of the face.

Large fetal goiter due to placental passage of maternal antithyroperoxidase antibodies.

We report a case of fetal goiter in a pregnant woman with Graves-Basedow disease. It was diagnosed in the third trimester by a routine ultrasound, and the cordocentesis verified increased levels of thyroxine (T4) and increased autoantibodies (antithyroperoxidase antibodies) that were also increased in maternal blood. Fetal goiter got smaller on the follow-up scans, and the newborn presented hypothyroidism. Current notions on the diagnosis and management of fetal goiter are briefly discussed.

The potential of 4D sonography in the assessment of fetal neurobehavior--multicentric study in high-risk pregnancies.

OBJECTIVE: An evolving challenge for obstetrician is to better define normal and abnormal fetal neurological function in utero in order to better predict antenatally which fetuses are at risk for adverse neurological outcome. PATIENTS AND METHODS: Prenatal neurological assessment in high-risk fetuses using four-dimensional ultrasound applying the recently developed Kurjak antenatal neurodevelopmental test (KANET). Postnatal neurological assessment was performed using Amiel Tison's neurological assessment at term (ATNAT) for all live-borns and general movement (GM) assessment for those with borderline and abnormal ATNAT. RESULTS: Inclusion criteria were met by 288 pregnant women in four centers of whom 266 gave birth to a live-born baby. It was revealed that 234 fetuses were neurologically normal, 7 abnormal and 25 borderline. Out of 7 abnormal fetuses ATNAT was borderline in 5 and abnormal in 2, whereas GM assessment was abnormal in 5 and definitely abnormal in 2. Out of 25 KANET borderline fetuses, ATNAT was normal in 7, borderline in 17 and abnormal in 1, whereas the GM assessment was as follows: normal optimal in 4, normal suboptimal in 20, and abnormal in 1. In summary, out of 32 borderline and abnormal fetuses ATNAT was normal in 7, borderline in 22 and abnormal in 3; GM assessment was normal optimal in 4, normal suboptimal in 20, abnormal in 6 and definitely abnormal in 2. CONCLUSION: The sonographic test requires further studies before being recommended for wider clinical practice.

The assessment of fetal neurobehavior by three-dimensional and four-dimensional ultrasound.

The development of three-dimensional (3D) and four-dimensional ultrasound (4D) has provided new opportunities to study fetal and even embryonic behavior. These techniques enable simultaneous spatial imaging of the entire fetus and its movements. Recently, multicenter studies of fetal brain function have been carried out, the aim of which is to establish the standards of embryonic and fetal peripheral and body movements and facial expression as additional diagnostic criteria for prenatal brain development. Additional studies have been conducted in order to provide more information on specific movement patterns and quality of movement in the high-risk fetus. The purpose of this paper is to review and analyze the published literature on the use of 3D and 4D ultrasound in the assessment of fetal behavior.

New scoring system for fetal neurobehavior assessed by three- and four-dimensional sonography.

AIM: To produce a new scoring system for fetal neurobehavior based on prenatal assessment by 3D/4D sonography. We identified severely brain damaged infants and those with optimal neurological findings and compared fetal with neonatal findings. RESULTS: The new scoring system was retrospectively applied in a group of 100 low-risk pregnancies. After delivery, postnatal neurological assessment was performed, and all neonates assessed as normal reached a score between 14 and 20, which we assumed to be a score of optimal neurological development. Subsequently, the same scoring system was applied in the group of 120 high-risk pregnancies in which, based on postnatal neurological findings, three subgroups of newborns were found: normal, mildly or moderately abnormal, and abnormal. Normal neonates had a prenatal score between 14 and 20, mildly or moderately abnormal neonates had a prenatal score of 5-13, whereas those infants who were assigned as neurologically abnormal had a prenatal score from 0-5. CONCLUSION: A new scoring system for the assessment of neurological status for antenatal application is proposed, similar to the neonatal optimality test of Amiel-Tison. This preliminary work may help in detecting fetal brain and neurodevelopmental alterations due to in utero brain impairment.

How useful is 3D and 4D ultrasound in perinatal medicine?

AIM: The purpose of this paper is to review and analyze the published literature on the use of three-dimensional (3DUS) and four-dimensional (4DUS) ultrasound in perinatal medicine. METHODS: We systematically searched Medline through PubMED (January 2000-January 2006), including EMBASE/Excerpta Medica database as well as the Cochrane Database of Systematic Reviews. The search terms used to identify clinical application of 3DUS and 4DUS studies in perinatal medicine were technical development, special features, and recommendation for fetal imaging, research on 3DUS or 4DUS, and the usage of invasive 3DUS or 4DUS procedures. The reference bibliographies of relevant books were also manually searched for supplementary citations. Inclusion criteria were as follows: (1) studies related to the use of 3DUS or 4DUS in perinatal medicine; (2) full text were available in English; (3) publication format of original scientific articles, case reports, editorials or literature reviews and chapters in the books. RESULTS: Five hundred and seventy-five articles were identified, and among those, 438 were relevant to this review. CONCLUSIONS: 3DUS and 4DUS provided additional information for the diagnosis of facial anomalies, evaluation of neural tube defects, and skeletal malformations. Additional research is needed to determine the clinical utility of 3DUS and 4DUS for the diagnosis of congenital heart disease, central nervous system (CNS) anomalies and detection of fetal neurodevelopmental impairment assessed by abnormal behavior in high-risk fetuses.

Three- and four-dimensional ultrasonography for the structural and functional evaluation of the fetal face.

Ultrasonographic examination of the fetal face can provide information that may lead to the diagnosis of anomalies in other organs or systems. Thus, the fetal face represents a "diagnostic window" for fetal diseases and syndromes. Three-dimensional ultrasonography (3DUS) improves the evaluation of anatomic fetal facial anomalies over what is possible by 2-dimensional ultrasonography (2DUS). Four-dimensional ultrasonography (4DUS), by adding the temporal component to the examination, allows visualization of facial expressions that might be useful in the study of fetal behavior and maternal-fetal bonding. In this article, we evaluate the potential of 3D/4DUS for the study of structural and functional development of the fetal face.

Normal standards for fetal neurobehavioral developments--longitudinal quantification by four-dimensional sonography.

AIM: To construct normal standards for fetal neurobehavioral development using longitudinal observations through all trimesters by four-dimensional sonography. SUBJECT AND METHODS: A group of 100 healthy normal singleton pregnancies were recruited for longitudinal 4D US examinations to evaluate fetal neurodevelopmental parameters between 7 to 40 weeks' gestation. Variables of maternal and fetal characteristics including gestational age, eight fetal movements patterns in the first trimester and 14 parameters of fetal movement and fetal facial expression patterns recorded thereafter for the construction of fetal neurological charts. RESULTS: Measurement of 7 parameters in the first trimester and 11 parameters in the second and third trimesters correlated with gestational age (P<0.05). Those parameters have been followed longitudinally through all trimesters and showed increasing frequency of fetal movements during the first trimester. A tendency towards decreased frequency of facial expressions and movement patterns with increasing gestational age from second to third trimesters has been noticed. CONCLUSION: With 4D sonography, it is possible to quantitatively assess normal neurobehavioral development. There is urgent need for further multicentric studies until a sufficient degree of normative data is available and the predictive validity of the specific relationship between fetal neurobehavior and child developmental outcome is better established.

New data about embryonic and fetal neurodevelopment and behavior obtained by 3D and 4D sonography.

The development of the human central nervous system (CNS) begins in the early embryonic period and proceeds through a sequence of very complicated processes long after delivery. Although the neurodevelopmental processes are genetically determined, their complexity and intensity implicates the vulnerability of the CNS to number of environmental factors. There is substantial evidence to show that many neurological problems, from minor cerebral dysfunction to the cerebral palsy, originate form the prenatal, rather than perinatal or postnatal periods of life. A variety of neurological and neuropsychiatric diseases is nowadays considered to originate, at least partly, from the prenatal incidents. In most of these conditions, there is no reliable parameter for detection or prediction of cerebral lesions and there is an urgent need to develop strategies that would enable the early detection of cerebral lesions or indications that such lesions might occur. The new, advanced, imaging techniques such as 3-dimensional and 4-dimensional sonography, opened a new perspective for the investigation of structural and functional development of fetal CNS. The application of these techniques might improve our understanding of the prenatal neurodevelopmental events and possibly facilitate the development of diagnostic strategies for early detection or prevention of brain dysfunctions and damage.

Fetal behavior assessed in all three trimesters of normal pregnancy by four-dimensional ultrasonography.

AIM: To assess fetal behavior in all three trimesters of normal pregnancy and to investigate the continuation of behavior from fetal to neonatal period. METHODS: One hundred out of 130 pregnant women in all trimesters with singleton pregnancy were assigned for the investigation. All recordings were performed in the morning, after two hours of fasting. Video recordings of newborns were made while the newborns were in bed, separated from other infants in the nursery, dressed, and lying on their backs in a supine position with unrestrained hands. Recording was not performed during prolonged episodes of fussing and crying, during drowsiness, and episodes of hiccupping. All observed facial expressions and movement patterns were presented collectively with maximum, minimum, and median frequencies during 30-minute observation period. RESULTS: We noted a tendency towards decreased frequency of facial expressions and movement patterns with increasing gestational age. In the first trimester, we observed the highest incidence of general movements ranging between 5 and 147, and with a median value of 47. In the second trimester, the number of head and hand movements decreased gradually, compared with the first trimester. The highest range was registered for head retroflexion pattern, ranging from 15 to 42 with a median of 25. The most frequent facial pattern in the second trimester was sucking (3 and 30 movements per infant with a median value of 9). Wilcoxon rank-sum test showed statistically significant differences between the fetuses in the third trimester and the newborns (P<0.05) in hand to head, hand to mouth, hand to eye, hand to ear movement), tongue expulsion, and smiling, whereas the differences between the rest of the movements were not statistically significant. Spearman rank order correlation reached statistical significance (P<0.05) in isolated eye blinking, smiling, grimacing, hand to head, hand to mouth, hand to eye, hand to face, and in hand to ear movement, whereas the differences between the rest of the facial expressions were not statistically significant. CONCLUSION: Fetal behavioral patterns directly reflect the developmental and maturational processes of the central nervous system. 4D observation of fetal and early neonatal period may add to better understanding of the neurological development of the fetus.

The potential of four-dimensional (4D) ultrasonography in the assessment of fetal awareness.

AIM: The aim of the study was to observe different expressions and movements of a fetal face during investigation of fetal behavior in the second and the third trimester of normal pregnancies, as a probable manifestation of fetal awareness. SUBJECTS AND METHODS: Over a 6-month period a study was conducted in three centers in Zagreb, Croatia and in Barcelona and Malaga, Spain. Women with singleton pregnancies (16-33 weeks) who were referred for ultrasound check-up for determination of gestational age, suspicious fetal malformations, polyhydramnios, and/or the assessment of biophysical profile or other possible pathology, were assigned to the study. After regular two-dimensional (2D) ultrasound assessment at an antenatal clinic, pregnant women were offered the possibility of undergoing 4D ultrasound examination if the fetus and the mother were considered "normal", i.e., if ultrasound and clinical assessment were uneventful. If the newborn delivered at term had 1- and 5-min Apgar scores of 7 and 10, respectively, and if the newborn was considered "term and normal" (normal spontaneous activity, normal posture and tone, and presence of some primitive reflexes) at the first and subsequent regular check-ups, the inclusion criteria were deemed to have been met. Out of 119 patients, 99 fulfilled the inclusion criteria, 40 of whom were in the second, and 59 in the third trimester of pregnancy. A Voluson 730 Expert system with a transabdominal 5-MHz transducer was used for 4D ultrasonography. After regular 2D scanning, the 4D mode was switched on, and a live 3D image was reconstructed by selecting ideal 2D mid-sagittal images of the face (the region of interest). The volume was automatically scanned every 2 s while the surface-rendered mode was switched on, and 4D images were displayed on the screen and recorded on videotape during a 30-min observation period. Movements of the following fetal face structures were analyzed: forehead, brows, nasal soft tissue and nasolabial folds, upper lip, oral cavity and tongue, lower lip and chin, eyelids and eyes, mouth and mouth angles, and facial expression. 4D ultrasonography allowed in utero observations of fetal facial expressions such as smiling, yawning, and swallowing. RESULTS: The quality of 4D depiction of fetal facial expressions increased with gestational age. The frequency of fetal facial expressions such as yawning ranged from 1 and 6 with a median of 1.5 per 30-min observation period; smiling ranged from 2 and 8 with the median of 2; tongue expulsion ranged from 2 to 6, median 3; mouth and eye squeezing ranged from 5 to 10, median 6; scowling ranged from 1 to 3, median 0.5; and isolated eye blinking ranged from 4 to 12 with a median of 5. CONCLUSIONS: Our study shows the ability of 4D sonography to depict different facial expressions and movements, which might represent fetal awareness. Nevertheless, long, precise and thorough observation of fetal faces by 4D sonography was hampered as the images were only near real-time. Thus, we were only able to study the quality and not the quantity of facial movement patterns.

Behavioral pattern continuity from prenatal to postnatal life--a study by four-dimensional (4D) ultrasonography.

AIM: To investigate whether the same behavioral patterns were present pre- and postnatally, and whether there were any differences in the frequency of movements observed in fetal and in early neonatal life. SUBJECTS AND METHODS: Ten out of 37 pregnant women in the third trimester of pregnancy (median gestational age 34 weeks, range 33 to 35 weeks) in the two-month period (from November 1st to December 31st, 2003) were enrolled in the investigation. Ten term, appropriate for gestational age newborns (seven born vaginally, three by elective SC, six girls, six first-born) and were enrolled in the study. All 4D examinations were performed on Voluson 730 (Kretztechnik, Zipt, Austria) and Acuvix (Medison, Korea) with transabdominal 5 MHz transducer. After standard assessment in 2D B-mode ultrasound, a 4D mode was switched on and live 3D image was reconstructed by selecting the ideal representative 2D image placed in the region of interest (ROI). The recordings of neonatal behavior were made on the Sony P-612 OHMPL videotape by video camera (Sony Camcoder CC DTRV 318 Hv8) and reviewed on the videocassette recorder (Sony VHS SLV-N 900). The median of newborns' age at the moment of recording was 49 hours (range 4 to 112). During the examination, newborns were lying in the bed, separated from other infants in the nursery, dressed, and lying on their backs in a supine position with unrestrained hands. The temperature in the room was 22 to 24 degrees C. The video recording was performed mainly while the children were actively awake or during alert inactivity. RESULTS: There were no movements observed in fetal life that were not present in neonatal life, while the Moro reflex was present only in neonates. The most frequent fetal and neonatal movements were scowling, eye and mouth opening, and hand to face, hand to eye and hand to head movements. Isolated blinking, mouth to eyelid movement, yawning, tongue expulsion and scowling were more frequent in neonates than in fetuses, although the difference was not statistically significant. Hand to mouth movements were more frequent in neonatal than in fetal life while all other hand movements were less frequent in neonates than in fetuses, although the differences did not reach statistical significance. Spearman rank order correlation reached statistical significance in smiling (R=0.71; t=2.91; P=0.02) and in hand to ear movement (R = 0.80; t= 3.86; P = 0.005), and was almost statistically significant in isolated eye blinking (R=0.61; t=2.17; P =0.06), while the correlations between the rest of the movements were not statistically significant. CONCLUSIONS: 4D ultrasonography is a powerful tool in the assessment of fetal behavior, and our study showed that there is a continuity from fetal to neonatal behavior, especially in terms of isolated eye blinking movements, mouth and eyelid opening, yawning, tongue expulsion, smiling, scowling and hand movements directed to other parts of the face.

Fetal hand movements and facial expression in normal pregnancy studied by four-dimensional sonography.

AIM: To evaluate the developmental pattern of fetal hand movements and facial activity and expression during the second and third trimester of pregnancy by four-dimensional ultrasound (4D-US). SUBJECTS AND METHODS: A total of 25 fetuses in uncomplicated pregnancies were analyzed; 15 fetuses at 13 to 16 weeks and 10 fetuses at 30 to 33 weeks of gestation were studied with abdominal 4D-US. After standard assessment in two dimensional (2D) real-time B mode, a 4D mode was switched on. Further examination lasted a maximum of 15 minutes. RESULTS: Isolated hand movement and subtypes of hand movements were easily recognized by 4D-US. The sub-types of hand to head movement are: hand to head, hand to mouth, hand near mouth, hand to face, hand near face, hand to eye and hand to ear. All subtypes of hand to head movement can be seen from 13 weeks of gestation, with fluctuating incidence. Facial activities and different forms of expression are easily recognized by 4D-US. Among these, two types can be easily differentiated: smiling and scowling. CONCLUSIONS: 4D-US is superior over real-time two-dimensional ultrasound (2D-US) for qualitative, but inferior for quantitative analysis of hand movements. Thus 4D-US makes it possible to determine exactly the direction of the fetal hand, but the exact number of each type of hand movements can still not be determined. 4D-US is superior over two- and three-dimensional sonography in the evaluation of complex facial activity and expression. Among facial activities observed by 4D-US, simultaneous eyelid and mouthing movements dominate between 30 and 33 weeks of gestation. Pure mouth movements such as mouth opening, tongue expulsion, yawning and pouting are present, but at a significantly lower incidence. Facial expressions such as smiling and scowling can be precisely observed using 4D-US.