Ritsuko K Pooh

Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing

Objective: To develop a new bioinformatic method in the noninvasive prenatal identification of common fetal aneuploidies using massively parallel sequencing on maternal plasma. Methods: Massively parallel sequencing was performed on plasma DNA samples from 108 pregnant women (median gestation: 12+5 week) immediately before chorionic villus sampling (CVS) or amniocentesis. Data were analysed using a novel z-score method with internal reference chromosome. The diagnostic accuracies of the fetal karyotyping status were compared against two previously reported z-score methods – one without adjustment and the other with GC correction. Results: A total of 32 cases with fetal aneuploidy were confirmed by conventional karyotyping, including 11 cases of Trisomy 21, 10 cases of Trisomy 18, 2 cases of Trisomy 13, 8 cases of Turner syndrome (45, XO) and one case of Klinefelter syndrome (47, XXY). Using the z-score method without reference adjustment, the detection rate for Trisomy 21, Trisomy 18, Trisomy 13, Turner syndrome, and Klinefelter’s syndrome is 100%, 40%, 0%, 88% and 0% respectively. Using the z-score method with GC correction, the detection rate increased to 100% for Trisomy 21, 90% for Trisomy 18, 100% for Trisomy 13. By using the z-score method with internal reference, the detection rate increased to 100% for all aneuploidies. The false positive rate was 0% for all three methods. Conclusion: This massively parallel sequencing-based approach, combined with the improved z-score test methodology, enables the prenatal diagnosis of most common aneuploidies with a high degree of accuracy, even in the first trimester of pregnancy.

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

Abstract 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 Tisons 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.

Clinical utility of noninvasive fetal trisomy (NIFTY) test – early experience

Objective: To report the initial experience of noninvasive prenatal diagnosis of fetal Down syndrome (The NIFTY test) in a clinical setting. Methods: The NIFTY test was offered as a screening test for fetal Down syndrome to pregnant women with a singleton pregnancy at 12 weeks of gestation or beyond. A satisfaction questionnaire was sent to the first 400 patients. Results: During a 6-month period, 567 NIFTY tests were performed. Over 90% of those studied were ethnic Chinese, and the mean age of the women studied was 36 years. The test was performed at 12–13 weeks of gestation in 49.21%. The median reporting time was 9 days. The test was positive for trisomy 21 in eight cases, and for trisomy 18 in 1 case; all were confirmed by fetal karyotyping. There was no false-positive result. Of the questionnaires, 182 completed responses were received. Over 95% had complete or almost complete resolution of anxiety. Except for one, all were satisfied with the NIFTY test, and all indicated that they would recommend the test to their friends. Conclusion: The NIFTY test was a highly specific test. Unnecessary invasive tests and associated fetal losses could be avoided in almost all women who have a normal fetus.

Imaging of the human embryo with magnetic resonance imaging microscopy and high-resolution transvaginal 3-dimensional sonography: human embryology in the 21st century

OBJECTIVE This article illustrates early human development, demonstrated by magnetic resonance (MR) microscopy and computer graphics on human embryo specimens, and advanced 3-dimensional (3D) sonography in clinical obstetrics. STUDY DESIGN Fixed human embryo specimens were imaged by MR microscopy coupled with computer graphics technology. Transvaginal 3D sonography was used to examine embryos in ongoing gestations and compare embryological findings. RESULTS Advances in MR microscopy allowed detailed visualization of embryo specimens. Computational techniques allowed reconstruction of tomographic images to render them as 3D structures. High-resolution transvaginal 3D sonography produced images that demonstrated the neural tube from week 6; brain anatomy and vasculature from week 8; and craniofacial morphology and other structures from week 11. CONCLUSION MR microscopy is a novel technique that enables nondestructive, high-resolution imaging of embryo specimens. On the other hand, 3D sonoembryology allows detailed anatomical visualization in vivo and is the basis for the assessment of anomalies as well as human development.

The assessment of fetal brain morphology and circulation by transvaginal 3D sonography and power Doppler.

Abstract Objective: The objective of this article is to describe the use of transvaginal 3D ultrasound in prenatal neuroimaging and to investigate its clinical usefulness. Methods: Firstly, 18 fetuses with hydrocephalus, ventriculomegaly and/or space occupying lesion were examined by transvaginal 3D sonography, and fetal CNS abnormalities were evaluated. Multiplanar image analysis and volumetric assessment were performed off-line. Longitudinal volume changes of target structure were evaluated, and usefulness of transvaginal 3D ultrasound was evaluated. Secondly, in 56 normal cephalic fetuses of between 18 and 32 weeks, 3D Doppler volume acquisition and reconstruction of the intracranial vascular structure were performed. Results: Longitudinal changing appearance in the same cutting section of the enlarged ventricle or cystic lesion could be demonstrated in all cases and volumetric assessment was also successful in all cases. Longitudinal objective data were useful in the brain assessment, consultation and counselling. 3D Doppler acquisition time was 5.6–26 seconds and symmetrical 3D-reconstruction was successful in 51.8 %. Conclusion: Transvaginal 3D imaging technology provides us with not only comprehensive intracranial images in exactly the right sections, but also with objective volume data. Prenatal information with objective data analyses is useful in consultation for both specialists and parents, and leads to proper management of CNS diseases.

3D/4D sonography moved prenatal diagnosis of fetal anomalies from the second to the first trimester of pregnancy

The introduction of 3D/4D sonography with high frequency transvaginal transducer has resulted in remarkable progress in ultrasonographic visualization of early embryos and fetuses and development of new fields of 3D sonoembryology. With the proper use of this new diagnostic modality and with experienced examiner, both structural and functional development in the first trimester of gestation can be assessed more objectively and reliable. Indeed new technology moved embryology from postmortem studies to the in vivo environment. Furthermore, there are good reasons to believe that 3D/4D sonography moved prenatal diagnosis of fetal abnormalities from the second to the first trimester of pregnancy. We will try to illustrate it with the number of convincing slides.

An Atlas of Fetal Central Nervous System Disease: Diagnosis and Management

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Non-invasive prenatal screening of fetal sex chromosomal abnormalities: perspective of pregnant women.

Objective: To study whether pregnant women would like to be informed if sex chromosomal abnormalities (SCA) were suspected with the non-invasive prenatal diagnosis of fetal Down syndrome (the NIFTY) test. Methods: Two hundred and one patients carried a singleton pregnancy requesting the NIFTY test were invited to give their preferences if there was suspicion of SCA by the NIFTY test. Results: Over 93.5% were ethnic Chinese, with a mean age of 36. Prior Down screening was positive in 66 (32.8%). Over 50% of subjects considered SCA to be better in terms of disability compared to Down syndrome, and only 5.2% considered SCA to be worse. Yet, the majority (198, 98.5%) indicated that they wanted to be informed if there was suspicion of SCA. Of whom 34.8% would have an amniocentesis for confirmation, while 57.1% were not certain, indicating the possibility of accepting these conditions. Conclusion: Besides screening Down syndrome by NIFTY, most pregnant women would also like to be informed if there was suspicion of SCA. Those screened positive should be counseled by those with experience in genetics to avoid unnecessary pregnancy termination.

Fetal behavior analyzed by ultrasonic actocardiogram in cases with central nervous system lesions

Abstract Aims: This study examined whether analysis of fetal behavioral states by monitoring fetal heart rate and movement using an actocardiogram (ACG), could provide prognostic information related to fetal central nervous system (CNS) lesions. Methods: The ACG simultaneously records fetal heart rate (FHR) and fetal movement bursts composed of spikes of ultrasonic Doppler signals. Durations of FHR accelerations and fetal movement bursts were measured manually. Five actocardiographic indices were studied in 12 fetuses with CNS lesions and in 14 normal pregnancies of 28–38 weeks. Results: Severity of the fetal CNS lesions was estimated from the acceleration/burst (A/B) duration ratio, which correlated with the rank of the sonographic fetal functional test in cases with CNS lesions. Severity of a fetal lesion may also be estimated by the regression equation of the A/B duration ratio and behavioral ranking. Conclusion: The severity of fetal CNS lesions may be estimated by quantitative analysis of ACG usings the measurement of A/B duration ratio to provide a prognosis. An ACG may demonstrate a loss of CNS control in cases with severe brain damage.

3D and 4D sonography and magnetic resonance in the assessment of normal and abnormal CNS development: alternative or complementary

Abstract Advanced transvaginal neurosonography has revealed normal and abnormal intracranial morphology. Transvaginal three-dimensional (3D) sonography demonstrates bony structure, multiplanar analysis of inside detailed morphology, tomographic ultrasound imaging in any cutting sections, 3D sonoangiography and volume calculation of ventricles and/or intracranial lesions. Longitudinal assessment of normal and abnormal central nervous system (CNS) development is done by serial scanning. However, the transvaginal high-frequency approach has several limitations due to lack of penetration and cranial bone ossification with advanced gestational age. Magnetic resonance neuroimaging enabled observation of the whole intracranial cavity, brainstem and cortical gyral/sulcal development. On the other hand, neuro-sonography has advantages in detecting intracranial calcification, vascular abnormalities, intratumoral vascularity and bone dysplasia. Moreover, 3D ultrasound demonstrates extra CNS abnormalities, strongly associated with CNS abnormalities. Any less-invasive modalities can be used for a CNS anomaly screening scan and ultrasound is no doubt the first choice. Once CNS abnormality is suspected, it is suggested to use the different technologies according to what is looked for in each abnormal CNS case. Of course, MR and 3D ultrasound imaging should be complementary as well as alternative.