Ultrasound fetal medicine

BACKGROUND: The clinical manifestations of trisomy 7 mosaicism are diverse and nonspecific, so prenatal diagnosis is very difficult. CASE SUMMARY: Two pregnant women with abnormal prenatal screening results were included. One was a 22-year-old woman (G1P0). At 31st week of gestation, ultrasound revealed that the posterior horn of the left lateral ventricle was 10 mm and the right renal pelvis had a separation of 7 mm. The other pregnant woman was 33 years old (G2P1L1A0), and her fetus was found to have a cardiac malformation at the 24th week of gestation...

Background: Copy number variation sequencing (CNV-seq) is a powerful tool to discover structural genomic variation, but limitations associated with its retrospective study design and inadequate diversity of participants can be impractical for clinical application. Aim: This study aims to use CNV-seq to assess chromosomal aberrations in pregnant Vietnamese women. Materials & methods: A large-scale study was conducted on 3776 pregnant Vietnamese women with abnormal ultrasound findings. Results: Chromosomal aberrations were found in 448 (11...

OBJECTIVES: The aim of the study was to compare left ventricle stroke volume in healthy, eutrophic fetuses in the 2nd and 3rd trimesters evaluated using the velocity time integral and aortic annulus area with left ventricular stroke volume measured using Simpson's single-plane rule and to determine the discrepancy equation. METHODS: The study included 354 fetuses. In each fetus, during the same examination, simultaneous assessment of stroke volume was performed by pulsed-wave Doppler using the product of the velocity time integral and aortic annulus area and by the fetalHQ® software using Simpson's single-plane rule...

OBJECTIVE: To evaluate corpus callosum (CC) size in fetuses with malformations of cortical development (MCD) and to explore the diagnostic value of three CC length (CCL) ratios in identifying cortical abnormalities. METHODS: This is a single-center retrospective study in singleton fetuses at 20-37 weeks of gestation between April 2017 and August 2022. The midsagittal plane of the fetal brain was obtained and evaluated for the following variables: length, height, area of the corpus callosum, and relevant markers, including the ratios of corpus callosum length to internal cranial occipitofrontal dimension (CCL/ICOFD), corpus callosum length to femur length (CCL/FL), and corpus callosum length to cerebellar vermian diameter (CCL/VD)...

OBJECTIVE: Many fetal anomalies can already be diagnosed by ultrasound in the first trimester of pregnancy. Unfortunately, in clinical practice, detection rates for anomalies in early pregnancy remain low. Our aim was to use an automated image segmentation algorithm to detect one of the most common fetal anomalies: a thickened nuchal translucency (NT), which is a marker for genetic and structural anomalies. METHODS: Standardized mid-sagittal ultrasound images of the fetal head and chest were collected for 560 fetuses between 11 and 13 weeks and 6 days of gestation, 88 (15...

Jeune syndrome, or asphyxiating thoracic dystrophy (JATD), is a rare autosomal recessive skeletal dysplasia with heterogeneous genetic and clinical phenotypes, which primarily affects cartilage and bone development. Herein, we report a patient with a lethal form of SRTD3 without polydactyly (JATD), which led to severe restrictive lung disease and fatal respiratory failure. A full-term boy was born to a 30-year-old mother who was known to have hypothyroidism and was on thyroxine. The parents were first-degree cousins and had one healthy older son...

OBJECTIVE:  Our objective was to evaluate the quality of obstetrical ultrasound images obtained with coconut oil compared with commercial ultrasound gel and to assess patient acceptability. STUDY DESIGN:  This was a randomized two-period crossover study in which 40 pregnant patients had standard biometry images obtained with both coconut oil and commercial ultrasound gel during their growth or anatomy ultrasound. All images were then rated by two blinded maternal-fetal medicine physicians on quality, resolution, and detail using a 0 to 100 scale...

BACKGROUND: Screening for trisomy 21 provides pregnant women with accurate risk information. Different algorithms are used to screen for trisomy 21 in South Africa (SA). The Fetal Medicine Foundation (FMF) provides software to screen for trisomy 21 in the first trimester by ultrasound or a combination of ultrasound and biochemistry (combined screening), and requires regular and stringent quality control. With αlpha software, first trimester combined screening and screening with biochemistry alone in the first or second trimester are possible...

This case series explores three instances of a successful fetal reduction in early second-trimester pregnancies conceived through infertility treatments. The patients, all admitted to a central Indian tertiary care hospital, underwent assisted reproductive technologies such as in vitro fertilization (IVF) or intrauterine insemination (IUI). Faced with triplet pregnancies, fetal reduction was made to mitigate risks and enhance maternal and fetal well-being. The reduction procedures, conducted either transvaginally or transabdominally under continuous ultrasound guidance, resulted in the cessation of targeted fetal heart activity and motility...

OBJECTIVES: A recent randomized controlled trial of first-trimester anatomy ultrasound in obese women found some advantages to using this technique in this population, but some aspects of feasibility were not clear, such as whether first-trimester ultrasound can be brought outside of a research setting. The learning curve for first-trimester anatomy has been described in the general population, but a learning curve has not been described for this technique in obese patients. This study sought to describe a learning curve for first-trimester anatomy ultrasounds in obese patients in an operator familiar with the basics of first-trimester imaging...

Identifying women with a history of cesarean delivery and at real risk for uterine rupture is an important aim in obstetric care. It is with this objective that different authors have evaluated the interest of ultrasound for predicting the risk of a cesarean scar defect by measuring the thickness of the lower uterine segment. The literature is sparse and subject to numerous biases because they are mainly prospective cohort studies with small numbers. However, the results are concordant: Ultrasound measurements of lower uterine segment thickness are strongly correlated with the operative findings observed during cesarean delivery...

IMPORTANCE: The first-trimester anomaly scan (FTAS) has the potential to detect major congenital anomalies in an early stage of pregnancy. Due to this potential early detection, there is a trend to introduce FTAS in regular care. Data regarding the impact of FTAS on the patient's perspective are limited. OBJECTIVE: To provide an overview of the literature assessing the impact of the FTAS on health-related quality of life (HRQoL) and healthcare costs. EVIDENCE ACQUISITION: Literature search was performed in Embase, PubMed, Medline Ovid, Cochrane Library database, Web-of-Science, and Google Scholar were searched...

OBJECTIVE: To evaluate the maternal-fetal hemodynamic effects after osteopathic manipulative treatment by measuring vital signs and Doppler velocimetry in third-trimester pregnant women. MATERIALS AND METHODS: This is a prospective study with pregnant women undergoing outpatient follow-up and hospitalized in a ward at Instituto Fernandes Figueira/Fiocruz, between August 2021 to August 2022, during the SARS-CoV-2 pandemic. This study was registered in REBEC under Register Number RBR-9q7kvg and approved by the ethics committee under number 32216620...

This article reviews the existing literature on diagnostic and medical imaging of pregnant women, the risks and safety measures of different medical imaging modalities, and alternative modalities for imaging pregnant patients. Different medical imaging modalities such as MRI, CT scan, ultrasound, nuclear medicine, and X-ray imaging help to evaluate women with recognized or unrecognized pregnancies and identify any underlying complications among pregnant patients. Fetuses are more sensitive to radiation and the effects of medical imaging as compared to adults since they have a rapidly developing cell system...

Congenital diaphragmatic hernia (CDH) can be diagnosed prenatally and its severity assessed by fetal imaging. The prognosis of a fetus with CDH is based on whether or not the hernia is isolated, the measurement of lung volume on ultrasound and MRI, and the position of the liver. The birth of a child with CDH should take place in a center adapted to the care of such children, and in accordance with the recommendations defined by the French National Diagnosis and Care Protocol. It has recently been demonstrated that for moderate and severe forms of CDH, tracheal occlusion using a balloon placed in utero by fetoscopy (FETO) increases survival until discharge from the neonatal unit, but at the cost of an increased risk of prematurity...

RATIONALE: Uterine rupture is an obstetrical emergency associated with severe maternal and fetal mortality. It is rare in the unscarred uterus of a primipara. PATIENT CONCERNS: A 25-year-old woman in her 38th week of gestation presented with slight abdominal pain of sudden onset 10 hours before. An emergency cesarean section was done. After surgery, the patient and the infant survived. DIAGNOSES: With slight abdominal pain of clinical signs, ultrasound examination showed that the amniotic sac was found in the peritoneal cavity with a rupture of the uterine fundus...

The objective of this study is to investigate the value of early pregnancy ultrasound combined with ultrasound score (USS) for the evaluation of placenta accreta (PA) in scar uteri. Thirty cases of PA in scar uteri diagnosed by ultrasound at our hospital between June 2021 and June 2022 were selected retrospectively (observation group). In addition, 30 patients had placenta attached to the anterior wall of the uterus and covered the internal orifice of the cervix; however, no PA was selected in the same period (control group)...

OBJECTIVE: To determine the live born prenatal detection rate of significant congenital heart disease (CHD) in a large, integrated, multi-center community-based health system using a strategy of referral only of patients with significant cardiac abnormalities on obstetrical screening ultrasound for fetal echocardiography. Detection rates were assessed for screening in both radiology and maternal fetal medicine (MFM). The impact on fetal echocardiography utilization was also assessed. METHODS: This was a retrospective cohort study using an electronic health record, outside claims databases and chart review to determine all live births between 2016 and 2020 with postnatally confirmed sCHD that were prenatally detectable and resulted in cardiac surgery, intervention, or death within 1 year...

IMPORTANCE: In pregnancy, cell-free DNA (cfDNA) represents short fragments of placental DNA released into the maternal blood stream through natural cell death. Noninvasive prenatal screening with cfDNA is commonly used in pregnancy to screen for common aneuploidies. This technology continues to evolve, and laboratories now offer cfDNA screening for single-gene disorders. OBJECTIVE: This article aims to review cfDNA screening for single-gene disorders including the technology, current syndromes for which screening may be offered, limitations, and current recommendations...

Purpose: This review aims to overview the use of echocardiography in diagnosing neonatal pulmonary hypertension, assessing cardiac function, and understanding the significance and limitations of various parameters in clinical practice. Materials and methods: Advancements in echocardiography for diagnosing and assessing neonatal pulmonary hypertension, evaluating cardiac function, monitoring treatment effectiveness, and predicting prognosis are discussed. Results: Echocardiography is a pivotal tool for diagnosing and managing neonatal pulmonary hypertension...