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Introduction to Drugs and Pregnancy
Published in “Bert” Bertis Britt Little, Drugs and Pregnancy, 2022
Prenatal diagnosis is used to screen for congenital anomalies and other fetal complications following use of drugs during pregnancy. Prenatal diagnosis procedures commonly available include (1) high-resolution ultrasound, (2) maternal serum alpha-fetoprotein (MSAFP), and (3) fetal echocardiography. Ultrasound studies can assess fetal growth and possible detection of specific structural anomalies of major organs. MSAFP is important for screening pregnancies for open neural tube or other open defects (e.g., gastroschisis). Amniocentesis may be performed to assess an abnormal alpha-fetoprotein level, but a karyotype study is not indicated by drug or alcohol exposure per se, except for colchicine. Fetal echocardiography is used to screen for cardiovascular defects that cannot be detected with the basic ultrasound four-chamber heart view (e.g., valvular defects, vascular stenosis).
Nonimmune Hydrops Fetalis
Published in Vincenzo Berghella, Maternal-Fetal Evidence Based Guidelines, 2022
Chelsea DeBolt, Katherine Connolly, Mary E. Norton, Joanne Stone
Fetal echocardiography aims first to examine position, size, function, and rhythm of the heart. The systematic observation of a four chamber view, outflow tracts, great arteries, and arches can rule out the majority of CHD associated with hydrops. The addition of color and pulse wave Doppler allows a more complete evaluation of heart function and flow across atrioventricular valves and arterial valves, while M-mode allows a more accurate study of cardiac contractility, wall thickness, and rhythm. Color Doppler investigation can demonstrate atrioventricular valve regurgitation, and insonation of peripheral vessels can show abnormal venous pulsatility in the ductus venosus or hepatic veins as signs of cardiac failure or provide information on right atrium pressure and heart function.
Ultrasound
Published in Vincenzo Berghella, Obstetric Evidence Based Guidelines, 2022
L. M. Porche, S. P. Chauhan, A. Abuhamad
The incidence of moderate to severe congenital heart disease (CHD) has been reported at 6–13 per 1000 live births [74, 75], with most affected infants born to pregnancies without identifiable risk factors [76]. Fetal cardiac evaluation is an important part of the prenatal ultrasound examination. Basic cardiac screening to be completed during the midtrimester ultrasound during every pregnancy includes the four-chamber view and evaluation of the right and left outflow tracts [5, 10]. An in-depth evaluation of fetal cardiac structures should be performed if the screening exam is abnormal or incomplete or when there are maternal or fetal indications (Table 4.9) [77, 78]. Fetal echocardiography is usually performed between 18 and 22 weeks. Main areas of evaluation include visceral situs, atrial and ventricular anatomy, valvular structure and function, and orientation and morphology of the great vessels. Grayscale, color, and spectral Doppler imaging are required, while spectral Doppler and M-mode should be used as needed to evaluate suspected anomalies [79]. These structures are usually best seen in the second trimester, but experienced technicians and sonologists may be able to detect cardiac anomalies in the first trimester. One prospective observational study showed a sensitivity and specificity of 88% and 100%, respectively, for detection of cardiac anomalies when using the four-chamber view, three-vessel view, and three-vessel trachea view to screen an unselected patient population in the first trimester [80].
Trisomy 21 and hydrops fetalis: parvovirus B19 or transient abnormal myelopoiesis?
Published in Journal of Obstetrics and Gynaecology, 2019
Lee Na Tan, Ka Wang Cheung, Mark David Kilby
A 25-year-old, multiparous woman was referred at 13 weeks and 6 days of gestation with an enlarged nuchal translucency (4.8 millimetres). First trimester anatomy scan demonstrated no anomaly and prenatal chromosomal testing was declined. A fetal echocardiography at 20 weeks was normal. At 24 weeks, NIFH was diagnosed with an echogenic bowel, ventriculomegaly (ventricular height of atrium measuring 10 millimetres) and cardiomegaly. The middle cerebral artery peak systolic velocimetry (MCA PSV) was elevated at 49 – 50 centimetres/second (cm/s) (>1.5 multiples of median (MoM)) and there was a high clinical suspicion of fetal anaemia. Intrauterine transfusion (IUT) was performed by an intrahepatic vein puncture, with foetal blood sampling demonstrating a haemoglobin of 55 gram/litre (g/L). An uneventful IUT with packed cells to a haemoglobin of 100 g/L was done.
Cardiac Findings in Fetal and Pediatric Autopsies: A 15-Year Retrospective Review
Published in Fetal and Pediatric Pathology, 2019
Our study also provides the opportunity to assess the results of fetal echocardiography. While the accuracy of the fetal echocardiogram for prenatal diagnosis of congenital heart defects has improved, detection of congenital heart defects in early gestation remains difficult [9,10,12]. The accuracy of fetal echocardiography has been evaluated by comparison to the postnatal findings, whether by follow-up after birth or at autopsy examination [3,4,9,10,12]. In our study, the correlation between prenatal echocardiogram and autopsy findings regarding cardiac defects demonstrated 85% correlation. Despite the difference in study methods, our observations are consistent with other reports, which report a correlation between 72% and 93.7% [3–5,9]. Persistent left superior vena cava was the cardiac defect most often missed by echocardiogram in our series. As an isolated finding, persistent left superior vena cava is not difficult to diagnose using fetal ultrasound and echocardiography [20]. However, in cases with more complex defects, this diagnosis can be missed. For example, with cardiac isomerism, the dilated coronary sinuses that connect to the left superior vena cava are unroofed and therefore do not appear dilated, leading to missing a persistent left superior vena cava on echocardiography [20]. Most missed lesions do not have a major impact on the overall patient outcome [4,5,9–12]. This was also true in our study.
Efficacy of Prenatal Ultrasound in Craniospinal Malformations According to Fetopathological and Postnatal Neonatological, Pathological Results
Published in Fetal and Pediatric Pathology, 2018
Fanni Rebeka Eros, Atene Simonyi, Zsolt Tidrenczel, Istvan Szabo, Janos Rigo, Artur Beke
The 1st Department of Obstetrics and Gynaecology operates as a prenatal diagnostic center, pregnant women are referred to our clinic from many parts of the country to be examined and consulted in progressive patient care. In the course of our work, besides other counseling situations, genetic counseling is often encountered with ultrasonic deviation detected in the intrauterine fetus. These deviations may include: 1 – Abnormalities detected in ultrasound examinations performed at other institutes, and confirmed by our genetic counseling's ultrasound examination, performed at our clinic. 2 – Abnormalities detected by ultrasonography during routine pregnancy care at our clinic, and these cases referred to the Genetic Counseling. 3 – Due to other reasons (eg. due to differences in biochemical parameters), cases referred to our Genetic Counseling, and the abnormalities were detected by our ultrasound examination. 4 – Differences detected during fetal echocardiography for other maternal and fetal reasons.