Prenatal Evaluation Research Articles

Measurement of the Cobb angle by 3D ultrasound: a valuable additional method for the prenatal evaluation of congenital scoliosis.

This study aimed to measure the Cobb angle of the fetal spine using three-dimensional ultrasound (3D-US) and to assess the relationship between the Cobb angle and the prognosis of congenital scoliosis. From March 2015 to June 2019, 77 pregnant women whose fetuses had suspected spinal skeletal dysplasia consented to undergo 3D-US examinations, and 54 fetuses were selected for the analysis group. The study protocol was approved by the review board of the Institutional Ethics Committee for Fetal Medicine. 3D-US was used to show the structure of the fetal spine in 3 planes, and the Cobb angle was measured on the coronal plane. The diagnostic efficacy of 3D-US was compared to that of X-ray for 33 fetuses. In the diagnosis of congenital scoliosis, the sensitivity, specificity, accuracy, positive predictive value (PPV), and negative predictive value (NPV) of 3D-US were 91.7%, 90.0%, 90.7%, 88.0%, and 93.1%, respectively. The area under the receiver operating characteristic (ROC) curve with 3D-US was 0.908. The Spearman correlation coefficient between the Cobb angle measurement on an X-ray image and on the coronal plane image acquired by 3D-US was 0.84, which showed a significant correlation (P<0.05). 3D-US was successful in the diagnosis of congenital scoliosis. It is feasible to measure the Cobb angle on the coronal plane of the fetal spine by using 3D-US. The Cobb angle has the potential to become an auxiliary index for evaluating the prognosis of congenital scoliosis.

Determining gestational age in the early fetal period: A comparison of morphometrical parameters

Estimation of fetal age is an important component of prenatal evaluation. The measure of the Crown-Rump Length (CRL) by ultrasound is one of the most frequently used methods to determine it. However, in certain pathologies, this measure could lose accuracy, and other measures should be taken to evaluate fetal age and to determine the normal growth of the conceptus. The main objective of this research was to compare different morphometric parameters with CRL in normal human fetuses to determine which of them has a stronger correlation with gestational age to be a useful measure when CRL could not be appropriately evaluated. We measured 10 different morphometric parameters and the weight in 120 human fetuses product of abortion that had externally normal morphology, and a Pearson´s Correlation test was made with each of the parameters with the gestational age determined using the CRL. Each of the 10 parameters had a significantly strong correlation with CRL. However, some of them have a stronger correlation and should be preferred when CRL is not available. If available, fetal age should be estimated using an ultrasound technique and measuring the CRL. Nevertheless, if an alteration in one of the structures affects its measure, a different parameter should be used. The limitations of each parameter should be noticed before using them.

Feasibility study in assessment of congenital cardiovascular malformation by recent technique of fetal cardiac MR imaging

BackgroundAbnormalities of the cardiovascular system are the most common congenital diseases in the fetus and the first cause of infant mortality. Echocardiography is still the method of choice to visualize the fetal cardiac cardiovascular abnormalities, yet cardiovascular magnetic resonance (CMR) is relatively unaffected by maternal and fetal conditions such as maternal obesity, uterine myoma, twins, oligohydramnios, fetal position and rib calcification, which particularly impair sonographic visualization of the fetal heart. Fetal cardiac MR imaging is a novel MRI technique which can provide valuable information that could add to the prenatal diagnosis and evaluation of cardiac and most of extra-cardiac anomalies. In this work, we aimed to highlight the advantage of FCMRI over fetal echocardiography in assessment of fetal congenital cardiac anomalies.ResultsFifty-Two fetuses with suspected or diagnosed congenital cardiac anomalies. All cases underwent detailed history taking, underwent fetal echocardiography using suitable curvilinear probe and performed according to standard protocol, then fetal cardiac MR was done with Balanced fast field echo, Black blood single shot, white blood Cine, Real-time 3D dynamic sequences, images were acquired in the transverse, four-chamber, short-axis, coronal and oblique sagittal views. Findings of fetal echocardiography were compared with that of cardiac MRI and with standard post-natal echocardiography. Prenatal Echo and fetal cardiac MRI showed significant moderate agreement between the two modalities in the detection of different congenital cardiac anomalies, Kappa test: 0.500; p value 0.021. Fetal MRI had a significant role in detection of extra cardiac anomalies in most cases. Comparing to gold standard post-natal echo. Accuracy of fetal CMRI is 95.5% and of fetal Echo is 86.4% regarding overall cardiac anomalies:ConclusionFetal cardiac MR imaging as an adjunct to fetal echocardiography may provide valuable information that could add to the prenatal diagnosis and evaluation of cardiac and most of extra cardiac anomalies.

Fetal central nervous system anomalies: When should we offer exome sequencing?

To investigate the detection of pathogenic variants using exome sequencing in an international cohort of fetuses with central nervous system (CNS) anomalies. We reviewed trio exome sequencing (ES) results for two previously reported unselected cohorts (Prenatal Assessment of Genomes and Exomes (PAGE) and CUIMC) to identify fetuses with CNS anomalies with unremarkable karyotypes and chromosomal microarrays. Variants were classified according to ACMG guidelines and association of pathogenic variants with specific types of CNS anomalies explored. ES was performed in 268 pregnancies with a CNS anomaly identified using prenatal ultrasound. Of those with an isolated, single, CNS anomaly, 7/97 (7.2%) had a likely pathogenic/pathogenic (LP/P) variant. This includes 3/23 (13%) fetuses with isolated mild ventriculomegaly and 3/10 (30%) fetuses with isolated agenesis of the corpus callosum. Where there were multiple anomalies within the CNS, 12/63 (19%) had LP/P variants. Of the 108 cases with CNS and other organ system anomalies, 18 (16.7%) had LP/P findings. ES is an important tool in the prenatal evaluation of fetuses with any CNS anomaly. The rate of LP/P variants tends to be highest in fetuses with multiple CNS anomalies and multisystem anomalies, however, ES may also be of benefit for isolated CNS anomalies.

Preliminary Study on Quantitative Assessment of the Fetal Brain Using MOLLI T1 Mapping Sequence.

Prenatal quantitative evaluation of myelin is important. However, few techniques are suitable for the quantitative evaluation of fetal myelination. To optimize a modified Look-Locker inversion recovery (MOLLI) T1 mapping sequence for fetal brain development study. Prospective observational preliminary cohort study. A total of 71 women with normal fetuses divided into mid-pregnancy (gestational age 24-28 weeks, N=25) and late pregnancy (gestational age > 28 weeks, N=46) groups. A 3 T/MOLLI sequence. T1 values were measured in pedunculus cerebri, basal ganglia, thalamus, posterior limb of the internal capsule, temporal white matter, occipital white matter, frontal white matter, and parietal white matter by two radiologists (11 and 16 years of experience, respectively). The Kruskal-Wallis test was used for reginal comparison. For each region of interest (ROI), differences in T1 values between the mid and late pregnancy groups were assessed by the Mann Whitney U test. Pearson correlation coefficients (r) were used to evaluate the correlations between T1 values and gestational age for each ROI. Intraobserver and interobserver agreement was determined by the intraclass correlation coefficient (ICC). A P value <0.05 was considered statistically significant. Interobserver and intraobserver agreements of T1 were good for all ROIs (all ICCs > 0.700). There were significant differences in T1 values between lobal white matter and deep regions, respectively. Significant T1 values differences were found between middle and late pregnancy groups in pedunculus cerebri, basal ganglion, thalamus, posterior limb of the internal capsule, temporal, and occipital white matter. The T1 values showed significantly negative correlations with gestational weeks in pedunculus cerebri (r=-0.80), basal ganglion (r=-0.60), thalamus (r=-0.68), and posterior limb of the internal capsule (r=-0.77). The T1 values of fetal brain may be assessed using the MOLLI sequence and may reflect the myelination. 3 TECHNICAL EFFICACY: Stage 2.

Preterm Infant with Respiratory Distress, Hypotonia, and Hypoglycemia.

Preterm Infant with Respiratory Distress, Hypotonia, and Hypoglycemia.

First trimester diagnosis of an unusual case of double aneuploidy with karyotype 48,XXY,+18 (Klinefelter-Edwards syndromes)

Objective: Double aneuploidy cases involving autosomal and sex chromosomes are very rare. Therefore, it is difficult to determine the clinical features and prognosis of these cases. In this case, a fetus with 48,XYY,+18 karyotype is presented. Case(s): Cystic hygroma, cleft lip and palate, and clubbed foot were detected in the prenatal ultrasonographic evaluation of a 31-year-old pregnant woman at 13 weeks of gestation. Chorionic villus sampling revealed double aneuploidy including Klinefelter and Edwards syndromes. The molecular result was consistent with the occurrence of nondisjunction error involving chromosome 18 in maternal meiosis I (mat MI) but the finding of the extra X chromosome could not be fully explained. Post-abortion fetal pathology specimen confirmed prenatal diagnosis. Conclusion: Double aneuploidy cases may rarely present with structural anomalies due to maternal meiosis error, without advanced maternal age, as in this case.

Development and Validation of Prognostic Nomogram for Postpartum Hemorrhage After Vaginal Delivery: A Retrospective Cohort Study in China

BackgroundPostpartum hemorrhage (PPH) is a common complication following vaginal delivery and in severe cases can lead to maternal death. A straightforward predictive model is required to enable prenatal evaluations by obstetricians to prevent PPH complications.MethodsData of patients who delivered vaginally after 37 weeks of gestation were retrospectively collected from the medical database at Shengjing Hospital of China Medical University for the period 2016 to 2020. PPH was defined as blood loss of 500 mL or more within 24 h of delivery, and important independent prognostic factors were determined using univariate and multivariate logistic regression analyses to construct nomograms regarding PPH.ResultsA total of 24,833 patients who delivered vaginally were included in this study. The training cohort included 22,302 patients who delivered between 2016 and 2019 and the external validation cohort included 2,531 patients who delivered during 2020. Nomogram was created using data such as age, race, occupation, parity, gestational weeks, labor time, neonatal weight, analgesic delivery, gestational diabetes mellitus, premature rupture of membranes, anemia, hypertension, adenomyosis, and placental adhesion. The nomogram has good predictive power and clinical practicality through the analysis of the area under the curve and decision curve analysis. Internal verification was performed on the nomogram for PPH, demonstrating consistency between the nomogram's predicted probability and actual probability.ConclusionsThe developed and validatable nomogram is a good predictor of PPH in vaginal delivery and can be used in clinical practice to guide obstetricians to administer preventive therapies before delivery.

52. Prenatal evaluation of lethal and non-lethal congenital anomalies with new indices and multidisciplinary decision-making

Objective: Congenital anomalies (CA) which require urgent surgical correction in neonates (congenital diaphragmatic hernia, CDH; gastroschisis, GS) have various anatomical/clinical features and high mortality. We aimed to investigate role of standardized approach for prenatal evaluation and prognosis assessment. Study design: Retrospective and prospective hospital cohorts (2002–2007, 2008–2013, 2014–2019) with review of pregnant women and neonates’ medical records, prenatal ultrasound reports and cytogenetic analyses.

53 Impact of terms of patients’ primary referral to the tertiary center on perinatal management in cases of conditionally non-lethal congenital anomalies

Objective: Congenital diaphragmatic hernia (CDH), omphalocele and gastroschisis are conditionally non-lethal congenital anomalies, which have high rate of associated structural and chromosomal pathology, variable anatomical/clinical features. This results in variable perinatal outcomes. Early referral to the tertiary center of fetal medicine allows timely complex prenatal evaluation and more options of pregnancy management in severe cases. We aimed to analyze terms of primary referral of pregnant women to department of fetal medicine in cases of CDH, omphalocele and gastroschisis in the fetus, to establish perinatal management.

Pregnancy Complications Lead to Subclinical Maternal Heart Dysfunction—The Importance and Benefits of Follow-Up Using Speckle Tracking Echocardiography

Pregnancy complications such as gestational diabetes (GDM) and hypertensive disorders of pregnancy (HDP) are frequent and influence not only fetal outcomes but also the maternal cardiac function. GDM and HDP may act as a proxy for increased metabolic and cardiovascular risk later in life. Speckle tracking echocardiography (STE) is a relatively new imaging technique that provides more sensitive assessment than conventional echocardiography of the maternal cardiac function. Recent research suggests that STE can be used during pregnancy and postpartum as a useful method of early detection of subclinical maternal cardiac changes related to pregnancy complications, such as GDM and HDP, and as an indicator for future maternal cardiovascular disorders. The aim of this review was to underline the current value of STE in the follow-up protocol of high-risk pregnant women, as a mean for pre- and postpartum monitoring. A review of the literature was conducted in the PubMed database to select relevant articles regarding the association of STE changes and HDP or GDM in the prenatal and postpartum maternal evaluations. Both GDM and HDP are associated with subtle myocardial changes in shape, size and function; these preclinical cardiac changes, often missed by conventional evaluation, can be detected using STE. Left ventricular global circumferential strain might be an important predictor of maternal cardiovascular disorders and might help to define a high-risk group that requires regular monitoring later in life and timely intervention.

Preterm Infant of Diabetic Mother with a Retrorectal Mass: A Troubling Tail Tale.

Preterm Infant of Diabetic Mother with a Retrorectal Mass: A Troubling Tail Tale.

Standards for the interpretation of constitutional copy number gain: Recommendation from the American College of Medical Genetics and Genomics (ACMG) and Clinical Genome Resource (ClinGen)

Copy number variants (CNVs) are common causes of human genetic diseases. CNVs detection has become a routine component of genetic testing, especially for pediatric neurodevelopmental disorders, multiple congenital abnormalities, prenatal evaluation of fetuses with structural anomalies detected by ultrasound. Although the technologies for CNVs detection are continuously improving, the interpretation is still challenging, with significant discordance across different laboratories. In 2020, the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) developed a guideline for the interpreting and reporting of constitutional copy number variants, which introduced a quantitative, evidence-based scoring framework. Here, we detailed the key points of interpreting the copy number gain based on the guideline, used six examples of different categories to illuminate the scoring process and principles. We encourage a professional understanding and application of this guideline for the detected copy number gains in China in order to further improve the clinical evaluation accuracy and consistency across different laboratories.

Prenatal evaluation for the diagnosis of X-Linked myotubular myopathy in a known affected sibling: A case report

X-linked myotubular myopathy, a rare disorder is part of a group of congenital myopathies that present in the neonatal period. While the clinical presentation in the antenatal period may be varied, the postnatal presentation is of a delayed cry, hypotonia and weakness resembling fetal hypoxia and acidosis. The presence of such features without any factors predisposing towards hypoxia, or a recurring phenotype should prompt a detailed evaluation of the neonate, including genetic evaluation in selected cases. A genetic diagnosis will also aid in evaluation of family members, including an early prenatal diagnosis in future siblings. Keywords: X-linked myotubular myopathy; MTM1; prenatal diagnosis.

Prenatal diagnosis and postnatal outcomes of right aortic arch anomalies

To give a report on the experience of our tertiary perinatology clinic on the pre- and postnatal management of the right aortic arch (RAA) by evaluating the patients as isolated and non-isolated RAA. Patients referred to our perinatology clinic for fetal echocardiography were evaluated retrospectively. They were assessed in two groups: isolated RAA and non-isolated RAA. The isolated RAA group consisted of patients without any additional cardiac or extracardiac anomalies. According to our routine practice, all patients received detailed prenatal ultrasonography following fetal echocardiography and genetic counseling. A total of 60 patients were evaluated. 38 patients (63.3%) presented with additional cardiac anomalies. 21.7% had extracardiac anomalies, including 16.7% who also had cardiac anomalies. In 2 patients (3.7%) 22q11.2 microdeletion, in 2 patients (3.7%) trisomy 21, in 1 patient (1.9%) trisomy 13 and in 1 patient (1.9%) 20p12.1p11.23 (a deletion of 2880 kbp) were reported. The most common cardiac anomaly associated with RAA was Tetralogy of Fallot (25%). Fetal growth restriction was reported in 8.3% of the cases. 18 patients had isolated RAA. 16 out of the 18 patients had normal genetic analysis. 2 of them (11.11%) presented with a 22q11.2 microdeletion. A single-center experience on the diagnosis and management of RAA has been reported in this study. The results indicate that a prenatal cardiac evaluation in 3VV is of utmost importance in all pregnancies to detect RAA and refer these patients to the appropriate perinatology clinics for further evaluation and care.

Supernumerary Ovary Characterized by Cystic Changes in the Omentum: A Rare Pathology

Supernumerary ovary is a rarest gynecologic condition in children. The presence of cystic changes within the supernumerary ovary is extremely rare. We report a case of neonate with supernumerary ovary. The patient was 3-month-old girl with a right-side cyst diagnosed by a prenatal ultrasonographic evaluation. Ultrasonography performed right after birth, and a magnetic resonance imaging examination had revealed that the abdominal cystic mass contained patchy semisolid components within a hemorrhagic or mucinous fluid. Laparotomy revealed a cystic mass which has no connection with the normal reproductive organs. Two normal ovaries were identified in the abdominal cavity. After excision, histopathologic study revealed that cystic mass was supernumerary ovary on the omentum. The baby had no postoperative complications. Prenatal differential diagnosis of abdominal cystic masses in infants with supernumerary ovary will be useful to keep in mind.

Ultrasound markers of chromosome aberrations on routine second trimester screening

Second trimester ultrasound examination for risk assessment of chromosomal abnormalities remains an important component of prenatal evaluation. We have conducted a retrospective study to evaluate the efficiency of ultrasonographic screening for the markers of chromosomal aberrations and to classify ultrasonographic markers according to the aberration they were found with. Over a 10 year period we performed 620 karyotype analyses of fetal blood taken by cordocentesis after detection of fetal anomalies in a second trimester scan in unselected population and 216 samples of peripheral blood of neonates having phenotypic features suspected for chromosomopathies. Ultrasound examination and cytogenetic data were obtained from the laboratory database. Chromosomal abnormalities were found in 36 (5,8%) fetuses with anomalies. Most frequently chromosomal aberrations were detected in fetuses with multiple anomalies (13,3%), heart anomalies (11,5%), short femurs (12,5%) and polyhydramnios (7,7%). The success rate of sonographic examination in detection of Down syndrome was 85%, and in detection of sex chromosome trisomies 80%. Trisomy 18, trisomy 13 and polyploidy were found prenatally in 100% each. Nearly 42% of trisomy 21 fetuses had heart anomaly, 35,3% polyhydramnios and 17,7% short femurs. Trisomy 18 fetuses had polyhydramnios in 87,5%, CNS anomalies in 62,5% and symmetrical IUGR in 50% of cases. All of the fetuses with monosomy X had short femurs. Ultrasonographic evaluation is the most sensitive screening method for the identification of fetuses having a high risk rate for chromosomal abnormalities in a low risk population.

Стан провізорних органів у плодів при вітальних та летальних аномаліях (огляд літератури)

Provisional organs (placenta, umbilical cord, amniotic membranes, amniotic fluid) play a significant role during pregnancy. Their normal morpho3functional state is an important condition for normal development and well3being of the fetus, as well as for uncomplicated course of pregnancy. Congenital malformations (CM) and chromosomal abnormalities are major causes of perinatal morbidity and mortality. For fetuses with malformations, dysfunction of the provisional organs (PO) can become critical and affect survival. Expert correct examination of PO during a comprehensive prenatal examination can become a diagnostic and prognostic tool for specialized management of fetuses as patients, and newborns to optimize the system of prenatal dispensary evaluation. Literature review has shown that there are certain patterns of the PO pathology in cases of fetal abnormal development, which require changes in the tactics of prenatal observation and delivery. The variability of morphological/ultrasound changes and clinical outcomes makes it difficult to reach definite diagnosis and make correct decisions about the management of patients in specific cases. Further research is needed to optimize the protocols of ultrasound examinations and prediction of perinatal complications in the pathology of the PO in fetuses with normal and abnormal development. No conflict of interests were declared by the authors. Key words: prenatal diagnosis, provisional organs, placenta, umbilical cord, amniotic membrane, amniotic fluid, vital and lethal congenital malformations, perinatal consequences, fetus.

Imaging of fetal precordial venous system by four-dimensional ultrasound with spatiotemporal image correlation technology.

Despite the use of two- and three- dimensional color Doppler ultrasonography, the prenatal sonographic evaluation of precordial venous system remains difficult. Spatiotemporal image correlation (STIC) technology has been well described for the assessment of the fetal heart, but not of precordial venous system. As demonstrated in this report, it is feasible to use four-dimensional ultrasound with STIC rendered volume in glass-body mode and tomographic ultrasound imaging to image this system including the connection and drainage of the ductus venosus, hepatic veins and inferior vena cava to the fetal heart. This novel approach can increase the understanding of this venous system.

Antenatal Diagnosis of Parapagus Conjoined Twins: 3D Virtual and 3D Physical Models.

Conjoined twins (CTs) are a rare complication from monochorionic and monoamniotic twin pregnancies. We describe the use of 3D technologies, including 3D virtual and 3D physical models on prenatal evaluation of one parapagus CT. A 16-year-old G1P0 woman was referred for fetal magnetic resonance imaging (MRI) anatomical evaluation of a CT at 28 weeks of gestation. 3D images of the fetal surface were generated by the software during the examination for spatial comprehension of the relationship between the fetal parts. The pair of CTs died at the 32nd week of gestation, a few hours after cesarean section. 3D technologies are an important tool for parental counseling and preparation of the multidisciplinary care team for delivery and neonatal assistance and possible surgical planning for postnatal separation in CTs cases.