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Forty‐seven of the 203 countries with abortion laws detailed by the Center for Reproductive Rights have a health exception (HE) clause, inconsistent in both wording and implementation, even within countries. This narrative review sought to determine the understanding and implementation of the legally permissible HE in different countries, or states, to provide clarification and guidance for strategies that will maximize permitted access to safe abortion within the law and avoid undue delays that harm the lives and health of women and their families. A multimethod approach was used. The literature search for countries with HE laws, including physical, mental, and social health, and exceptions for threat to life, rape, incest, and fetal anomaly, returned sparse results. The review of emblematic cases that had reached regional courts on the grounds of human rights violation for failure to obtain legal abortion under the country's HE clause included some examples qualifying on multiple grounds. We interviewed 15 physician advocates from 14 countries about use of the HE in their countries. Informants from Latin America interpreted the HE to refer to physical, psychological, and social health. HE laws are common but confusing, with significant opportunities to improve access through clarification and implementation. Where multiple grounds permit ending a pregnancy, the least onerous exception for the patient is the most ethical. Examples of progress in Colombia and Ghana demonstrate successful approaches to broader HE implementation. Synopsis: Poor understanding and implementation of health exception abortion laws cause harm to women. Emblematic cases and country examples of success provide direction for progress. [ABSTRACT FROM AUTHOR]

Introduction: Saving Babies' Lives Care Bundle Version 2 highlights the importance of correct identification and reporting of echogenic bowel to improve maternal and newborn outcomes. Yet there is no national consensus to guide sonographers in identifying and reporting fetal echogenic bowel. This two-phase study aims to develop a national consensus to guide sonographers on the identification, classification and reporting of fetal echogenic bowel during the Fetal Anomaly Screening Programme (FASP) second trimester anomaly scan. Phase 1 results are presented capturing the national current practice of sonographers in its identification. Methods: An online questionnaire survey was deployed to capture numerical and free text data. Data analysis was by descriptive statistics. Participants were recruited via social media and through professional networks and organisations. Results: A total of 95 participants completed the questionnaire during an 11-week period. Common practice across England included sonographers using a subjective method for identifying fetal echogenic bowel and making comparisons to fetal bone. However, there was wide variance in the fetal bone used and the transducer frequency typically used to assess bowel echogenicity. Confirmation of echogenic bowel was made at the 20-week scan in 58% of cases, 32% following fetal medicine department review with the remaining 10% unsure when confirmation occurred. Conclusion: While there is common practice in identifying and report echogenic fetal bowel in some areas, there remains disparity within sonographer practice in England's national screening service. This study allowed baseline data to be collated, providing the first steps towards development of guidance for sonographers in identifying and reporting this appearance. [ABSTRACT FROM AUTHOR]

AIM: The study aims to examine the effective factors influencing the decision of families to whom medical abortion was recommended due to fetal anomalies. METHODS: The cross-sectional study was conducted at İstanbul University Hospital, Department of Gynecology and Obstetrics, High-Risk Pregnancies and Maternity Ward. The sample consisted of 233 pregnant women, to whom medical abortion was recommended due to the diagnosis of foetal anomaly collected inover a 1-year period. RESULTS: While 122 of the families decided to have medical abortions, 111 decided to give birth. The rate of deciding on medical abortion was the highest in families whose fetuses had a high expectation rate of lethal anomalies (p < .001). The most effective factor for the families who decided to give birth was their religious beliefs. The most effective factor for the families who decided to have a medical abortion was the information they received from health professionals. CONCLUSION: While the religious beliefs of the parents were effective in the decision to give birth, the information they received from the health professionals was effective in the decision to have a medical abortion. [ABSTRACT FROM AUTHOR]

Few existing reports have investigated the copy number variants (CNVs) in fetuses with central nervous system (CNS) anomalies. To gain further insights into the genotype–phenotype relationship, we conducted chromosomal microarray analysis (CMA) to reveal the pathogenic CNVs (pCNVs) that were associated with fetal CNS anomalies. We enrolled 5,460 pregnant women with different high-risk factors who had undergone CMA. Among them, 57 subjects with fetal CNS anomalies were recruited. Of the subjects with fetal CNS anomalies, 23 were given amniocentesis, which involved karyotype analysis and CMA to detect chromosomal abnormalities. The other 34 cases only underwent CMA detection using fetal abortive tissue. In this study, we identified five cases of chromosome aneuploid and nine cases of pCNVs in the fetuses, with a chromosomal aberration detection rate of 24.56% (14/57). In the 23 cases that were given both karyotype and CMA analysis, one case with trisomy 18 was detected by karyotyping. Moreover, CMA revealed a further three cases of pCNVs, including the 1p36.33p36.31, 7q11.23, and 1q21.1q21.2 microdeletions, with a 13.04% (3/23) increase in CMA yield over the karyotype analysis. Additionally, three cases of trisomy 13, one case of trisomy 21, and six cases of pCNVs were detected in the other 34 fetuses where only CMA was performed. Furthermore, a higher chromosomal aberration detection rate was observed in the extra CNS anomaly group than in the isolated CNS anomaly group (40.91% vs 14.29%). In conclude, several pathogenic CNVs were identified in the fetuses with CNS anomalies using CMA. Among the detected CNVs, ZIC2, GNB1, and NSUN5 may be the candidate genes that responsible for fetal CNS anomalies. Our findings provides an additional reference for genetic counseling regarding fetal CNS anomalies and offers further insight into the genotype–phenotype relationship. [ABSTRACT FROM AUTHOR]

We performed an arboviral survey in mosquitoes from four endemic Ecuadorian cities (Huaquillas, Machala, Portovelo and Zaruma) during the epidemic period 2016–2018. Collections were performed during the pre-rainy season (2016), peak transmission season (2017) and post-rainy season (2018). Ae. aegypti mosquitoes were pooled by date, location and sex. Pools were screened by RT-PCR for the presence of ZIKV RNA, and infection rates (IRs) per 1,000 specimens were calculated. A total of 2,592 pools (comprising 6,197 mosquitoes) were screened. Our results reveal high IRs in all cities and periods sampled. Overall IRs among female mosquitoes were highest in Machala (89.2), followed by Portovelo (66.4), Zaruma (47.4) and Huaquillas (41.9). Among male mosquitoes, overall IRs were highest in Machala (35.6), followed by Portovelo (33.1), Huaquillas (31.9) and Zaruma (27.9), suggesting that alternative transmission routes (vertical/venereal) can play important roles for ZIKV maintenance in the vector population of these areas. Additionally, we propose that the stabilization of ZIKV vertical transmission in the vector population could help explain the presence of high IRs in field-caught mosquitoes during inter-epidemic periods. Author summary: Zika virus (ZIKV) is a mosquito-borne virus native to Africa that can cause a wide range of symptoms in humans, including neurological complications and fetal abnormalities. ZIKV arrived to South America in 2015, and quickly spread through the continent. In Ecuador, this virus caused several thousand infections during 2016 and 2017, but its incidence dropped suddenly thereafter, with just 11 cases reported between 2018 and 2022. The reasons behind this abrupt decrease are not well understood. In this work, we performed an arboviral survey in mosquitoes from four endemic Ecuadorian cities during the period 2016–2018. We screened 2,592 pools (comprising 6,197 specimens) for the presence of ZIKV, and estimated infection rates in female and male mosquitoes. We found high infection rates in all cities and periods sampled. Considering the low incidence of human cases during 2018, our results suggest that in our study areas the virus could be maintained by mechanisms that either do not depend on human infection, or cause low rates of symptomatic infections. High rates of ZIKV infection in male mosquitoes found during our study suggest that vertical and/or venereal transmission routes could play important roles in the inter-epidemic maintenance of this pathogen in our study area. [ABSTRACT FROM AUTHOR]

Objective: To examine the association of placental and fetal DNA copy number variants (CNVs) with fetal structural malformations (FSMs) in stillborn fetuses. Design: A secondary analysis of stillbirth cases in the Stillbirth Collaborative Research Network (SCRN) study. Setting: Multicenter, 59 hospitals in five geographic regions in the USA. Population: 388 stillbirth cases of the SCRN study (2006–2008). Methods: Fetal structural malformations were grouped by anatomic system and specific malformation type (e.g. central nervous system, thoracic, cardiac, gastrointestinal, skeletal, umbilical cord and craniofacial defects). Single‐nucleotide polymorphism array detected CNVs of at least 500 kb. CNVs were classified into two groups: normal, defined as no CNVs >500 kb or benign CNVs, and abnormal, defined as pathogenic or variants of unknown clinical significance. Main outcome measures: The proportions of abnormal CNVs and normal CNVs were compared between stillbirth cases with and without FSMs using the Wald Chi‐square test. Results: The proportion of stillbirth cases with any FSMs was higher among those with abnormal CNVs than among those with normal CNVs (47.5 versus 19.1%; P‐value <0.001). The most common organ system‐specific FSMs associated with abnormal CNVs were cardiac defects, followed by hydrops, craniofacial defects and skeletal defects. A pathogenic deletion of 1q21.1 involving 46 genes (e.g. CHD1L) and a duplication of 21q22.13 involving four genes (SIM2, CLDN14, CHAF1B, HLCS) were associated with a skeletal and cardiac defect, respectively. Conclusion: Specific CNVs involving several genes were associated with FSMs in stillborn fetuses. The findings warrant further investigation and may inform counselling and care surrounding pregnancies affected by FSMs at risk for stillbirth. [ABSTRACT FROM AUTHOR]

Introduction: Some congenital defects can be prevented in the pregestational stage. However, many health professionals are not prepared to provide counselling to couples regarding the same. Aims: To assess the awareness of health care professionals about congenital anomalies and pre-conception car. Materials and Methods: It is a crosssectional study that was conducted online for a duration of 6 months. Data was collected using a pretested and structured questionnaire on basics of congenital anomalies & preconception care, which was shared through google forms in social media. Purposive sampling was adopted. Results: Our studied group included 246 participants. The mean score for awareness of congenital anomalies was 9.7±1.6, with median score of 10 (9-11). The mean score for awareness score of pre-conception care was 8.3±1.6, with median of 9 (7-10). About 90% knew exactly what constitutes congenital anomalies but only 22.3% knew that >70% of these congenital anomalies are preventable. Only 50% of participants knew that causes are not known, only risk factors are identified. 90% believe that consanguineous marriages are one of the causes of congenital anomalies which is false. 50% knew the timing of different screening tests done during pregnancy to detect congenital/fetal anomalies. 80 - 90% knew that Periconceptional care is needed for both men & women irrespective of their health status and <50% knew that it should be considered not only before conception, but also in planning for family, contraception. Even though more than 90% knew about few components of PCC, more than 50% are not aware of the dosage of Folic acid. Conclusions: Awareness among doctors (irrespective of gender, education qualification or profession) about congenital anomalies and PCC is good in some important respects (like all antenatally detected anomalies need not be terminated) and poor in basic aspects like aetiology, prevention and detection of congenital anomalies, indications of PCC. [ABSTRACT FROM AUTHOR]

Objective: To assess the efficacy of copy number variation sequencing (CNV-seq) and karyotyping for prenatal detection of chromosomal abnormalities in fetuses with increased nuchal translucency. Methods: Amniotic fluid samples were extracted from 205 fetuses with increased nuchal translucency (NT ≥ 2.5 mm), diagnosed by ultrasound between gestational ages of 11 and 13 + 6 weeks. Karyotyping and CNV-seq were performed for detecting chromosomal abnormalities. Results: There are 40 fetuses (19.51%) showing increased NT detected with chromosomal abnormalities in karyotyping, and trisomy 21 was found to be the most common abnormalities. There are 50 fetuses (24.39%) identified with chromosomal abnormalities by CNV-seq. The detection of the applied techniques indicated that CNV-seq revealed higher chromosomal aberrations. The risk of chromosomal abnormalities was significantly increased with NT thickening, from 13.64% in the NT group of 2.5–3.4 mm, 38.64% in the NT group of 3.5–4.4 mm, and to 51.72% in the NT group of over 4.5 mm (P < 0.05). The investigated cases with increased NT with presence of soft markers in ultrasound or high risk in non-invasive prenatal testing presented chromosomal abnormalities in higher rates, comparing with those with isolated NT or low risk (P < 0.05). Conclusion: The results indicated that the risk of chromosomal abnormalities was associated with the NT thickness, detected by karyotype or CNV-seq. The combination application of two analysis was efficient to reveal the possible genetic defects in prenatal diagnosis. The finding suggested that the detection should be considered with ultrasonographic soft markers, and the NT thickness of 2.5–3.4 mm could be a critical value for detecting chromosomal abnormalities to prevent the occurrence of missed diagnosis. [ABSTRACT FROM AUTHOR]

To investigate curcumin (CUR) as the protector against the harmful effects of low-frequency electromagnetic field(LF- EMF, 50 Hz) during pregnancy period, 5 males and 15 females of Wistar rat mated and vaginal plaques were observed. Then, the pregnant rats were divided into six groups. During pregnancy(21 days), the EMF group was exposed to EMF for 30 min/day, the CUR group received a single dose of 50 mg/kg/daily CUR intraperitoneal, the EMF+CUR group was injected CUR and exposed to EMF daily. The DMSO(dimethyl sulfoxide) group was injected solvent of CUR (DMSO) intraperitoneal with the same volume of CUR solvent, the sham group was placed through the solenoid in the same conditions as the first group without exposure and the control group was kept in their cage in normal condition. After four weeks, babies born were divided according to the mother groups and sacrificed. Then, the three tissues injuries were investigated. EMF exposure led to an increase in outstanding necrotic areas in hippocampal tissue, an increase in the amount of hyperemia(p = 0.017) and necrotic(p = 0.005) in kidneys, and degeneration in liver tissue(p = 0.007) in the EMF group compared with EMF+CUR groups. A single dose of CUR daily during pregnancy can protect these tissues from injuries caused by LF-EMF exposure in rat fetuses. Electromagnetic fields (EMFs) are able to penetrate and be absorbed by the body. The researchers showed that these radiations might be harmful and lead to cancers, cardiovascular diseases, mental disorders, and fetal abnormalities. Curcumin as an active component in turmeric has anti-inflammatory, antioxidant and anti-hyperlipidemia properties. It can protect the body against diseases such as arthritis, anxiety, and metabolic syndrome. This study examined the effects of curcumin as the protector against the harmful effects of EMF (50Hz) during pregnancy period. So the pregnant rats were divided into six groups. During pregnancy, a group was exposed to EMF for 30 min/day, the second group was injected a dose of curcumin 50mg/kg/daily, the third group was injected curcumin and exposed to EMF daily. The fourth group was injected a curcumin solvent dose, the sham group was placed through the field generator in the same conditions as the first group without exposure and the control group was kept in their cage in normal condition. After four weeks, babies born were divided according to the mother groups and sacrificed. Then, the liver, kidney, and hippocampal tissues were investigated. EMF exposure led to an outstanding increase in necrotic areas in hippocampal tissue, a notable increase in the amount of hyperemia and necrosis in kidneys, and degeneration in liver tissue(p=0.007) in the EMF group compared with the third group that was exposed to EMF and received curcumin. A single dose of curcumin daily during pregnancy can protect these tissues from injuries caused by EMF(50Hz) exposure in rat fetuses. [ABSTRACT FROM AUTHOR]

In the wake of Dobbs v. Jackson Women's Health Organization, legal scholars have proposed countless innovative strategies to secure reproductive autonomy, largely by circumventing the holding in Dobbs. This Note, however, takes a different approach. Rather than concluding that Dobbs has entirely foreclosed the pathway to constitutional abortion access, this Note considers the marginal case of severe fetal abnormality. It argues that, even under Dobbs's framework, there exists a robust constitutional right to abortion of severely abnormal fetuses, defined as fetuses whose congenital malformations make their death inevitable in utero or shortly after birth. Part I of this Note explains modern reproductive technology's emergence over the past century and defines severe fetal anomalies. Part II explains the substantive holding of Dobbs and identifies the question left open in Dobbs regarding abortion on the basis of severe fetal anomaly. Part III argues that an originalist-informed understanding of the Constitution demands the right to abortion on the basis of severe fetal anomaly because such abortion decisions uniquely implicate two deeply rooted, fundamental rights: the right to protect one's health and the right to parental autonomy. Each year, more than 100,000 people become pregnant with severely abnormal fetuses, and the constitutional rationales for a right to abortion on the basis of severe fetal abnormality are particularly compelling. By considering severe fetal anomaly, a marginal case that Dobbs entirely overlooked, this Note serves both short- and long-term ambitions. It contends that the Constitution affords an abortion right to hundreds of thousands of pregnant people currently experiencing dire medical emergencies, and it strives to limit Dobbs's central holding--that states can freely regulate abortion--by paving a pathway to abortion access rooted in rights other than privacy. [ABSTRACT FROM AUTHOR]

The use of ultrasound in early pregnancy provides very useful data on establishing an accurate gestational age, quality, and development of early pregnancy, but also the detection of conditions related to pregnancy itself, such as twin pregnancy. The most important structure that confirms a potential normal intrauterine pregnancy and is recognized on ultrasound in the 6th gestational week is the embryonic pool, which appears as a hypoechoic structure immediately adjacent to the yolk sac. The embryonic period ends in the 9th gestational week, and the fetal period begins. Certain suspicions for the existence of anomalies in embryos are proven in the fetal period. In the 9th gestational stage, the fugue of the embryo elongates, and the extremities are already clearly visible. After 12 weeks of gestation, ultrasound is a powerful tool in the definitive detection of fetal anomalies. Screenings to detect anomalies and tests that talk about intrauterine physiology and pathology of the fetus have already been established for this. Certainly, the main goal is to bring into the world a newborn alive and capable of living. Regarding spontaneous interruptions of early pregnancy, two types are differentiated: blighted ovum or anembryonic pregnancies and missed abortion. [ABSTRACT FROM AUTHOR]

The phenotypes of Xp22.33 or Yp11.32 microdeletions comprising the short-stature homeobox (SHOX) gene have been extensively described in adults and children. Herein, the prenatal ultrasound phenotype and pregnancy outcomes of fetuses with Xp22.33/Yp11.32 microdeletions were analyzed to improve our understanding, diagnosis, and monitoring of this genetic condition in the fetal stage. A total of 9,100 pregnant women referred to tertiary units for prenatal diagnosis were evaluated by chromosomal microarray analysis(CMA). Seven (0.08 %) fetuses had Xp22.33/Yp11.32 microdeletions, ranging from 243 kb to 1.1 Mb, that comprised SHOX. The ultrasonic phenotypes differed among these fetuses, with three fetuses presenting abnormal bone development, one had labial-palatal deformity and strawberry head, two had an abnormal ultrasonic soft marker, and one had no abnormalities. After genetic counseling, only one couple underwent pedigree assessment, which confirmed the paternal origin of the microdeletion. This infant presented delayed speech development, whereas other three infants showed a typical postnatal development. In three cases, the parents chose to terminate the pregnancy. The ultrasonic phenotype of fetuses with Xp22.33/Yp11.32 microdeletions resulting in SHOX heterozygosity loss is variable. Prenatal CMA can quickly and effectively diagnose Xp22.33/Yp11.32 microdeletions and SHOX loss, which may help prenatal counseling. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the use of Exome Sequencing (ES) for the detection of genome-wide Copy Number Variants (CNVs) and the frequency of SNVs-InDels in selected genes related to developmental disorders in a cohort of consecutive pregnancies undergoing invasive diagnostic procedures for minor or simple ultrasound findings with no indication of ES. Methods: Women undergoing invasive diagnostic testing (chorionic villus sampling or amniocentesis) for QF-PCR and chromosomal microarray analysis (CMA) due to prenatal ultrasound findings without an indication for ES were selected over a five-month period (May–September 2021). ES was performed to compare the efficiency of genome-wide CNV detection against CMA analysis and to detect monogenic disorders. Virtual gene panels were selected to target genes related to ultrasound findings and bioinformatic analysis was performed, prioritizing variants based on the corresponding HPO terms. The broad Fetal Gene panel for developmental disorders developed by the PAGE group was also included in the analysis. Results: A total of 59 out of 61 women consented to participate in this study. There were 36 isolated major fetal anomalies, 11 aneuploidy markers, 6 minor fetal anomalies, 4 multiple anomalies, and 2 other ultrasound signs. Following QF-PCR analysis, two uncultured samples were excluded from this study, and six (10%) common chromosome aneuploidies were detected. In the remaining 51 cases, no pathogenic CNVs were detected at CMA, nor were any pathogenic variants observed in gene panels only targeting the ultrasound indications. Two (3.9%) monogenic diseases, apparently unrelated to the fetal phenotype, were detected: blepharo-cheilo-odontic syndrome (spina bifida) and Duchenne muscular dystrophy (pyelocaliceal dilation). Conclusions: In our series of pregnancies with ultrasound findings, common aneuploidies were the only chromosomal abnormalities present, which were detected in 10% of cases. ES CNV analysis was concordant with CMA results in all cases. No additional findings were provided by only targeting selected genes based on ultrasound findings. Broadening the analysis to a larger number of genes involved in fetal developmental disorders revealed monogenic diseases in 3.9% of cases, which, although apparently not directly related to the indications, were clinically relevant. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the clinical value of positive copy number variations (CNVs) results by non‐invasive prenatal testing (NIPT) without fetal ultrasonography‐identified structural anomalies, especially with several known CNVs results. Methods: A total of 135,981 results of NIPT performed between April 1, 2017, and March 31, 2020, enrolled in the free NIPT service program implemented by the local government were retrospectively analyzed. Of these, 87 cases with positive NIPT screens for CNVs and no fetal ultrasonography‐identified anomalies were recalled and provided genetic counseling. After obtaining full informed consent, these cases were provided invasive prenatal diagnosis by karyotyping and chromosomal microarray analysis (CMA)/copy number variation sequencing (CNV‐seq) with follow‐up. One case was lost, while 86 cases were successfully followed up. Results: A total of 44 (50.6%) cases underwent invasive prenatal diagnosis, of which six cases were detected with abnormal karyotype. CMA/CNV‐Seq revealed 11 fetuses with positive results for CNVs, among whom eight were consistent with NIPT results, two were partially consistent, one was inconsistent, and positive predictive value (PPV) was 22.7% (10/44). For known CNVs, PPVs were 20% (15q11.2‐q13 microdeletion) and 33.3% (5p end deletions). Among 11 pregnant women with positive prenatal diagnosis, seven were confirmed to have pathogenic CNVs in their fetuses; four had CNVs of unknown clinical significance. Conclusions: Even in pregnancies without ultrasonography‐identified anomalies, a positive NIPT screen for CNVs must be interpreted with caution and validated by additional diagnostic study. [ABSTRACT FROM AUTHOR]

Background: Congenital talipes equinovarus (CTEV) is a rotational foot deformity that affects muscles, bones, connective tissue, and vascular or neurological tissues. The etiology of CTEV is complex and unclear, involving genetic and environmental factors. Nail‐patella syndrome is an autosomal dominant disorder caused by variants of the LIM homeobox transcription factor 1 beta gene (LMX1B, OMIM:602575). LMX1B plays a key role in the development of dorsal limb structures, the kidneys, and the eyes, and variants in this gene may manifest as hypoplastic or absent patella, dystrophic nails, and elbow and iliac horn dysplasia; glomerulopathy; and adult‐onset glaucoma, respectively. This study aimed to identify pathogenic variants in a fetus with isolated talipes equinovarus diagnosed by ultrasound in the second trimester, whose father exhibited dysplastic nails and congenital absence of bilateral patella. Methods: Prenatal whole‐exome sequencing (WES) of the fetus and parents was performed to identify the genetic variant responsible for the fetal ultrasound abnormality, followed by validation using Sanger sequencing. Results: A novel heterozygous nonsense variant in exon 6 of LMX1B (c.844C>T, p.Gln282*) was identified in the fetus and the affected father but was not detected in any unaffected family members. This nonsense variant resulted in a premature termination codon at position 282, which may be responsible for the clinical phenotype through the loss of function of the gene product. Conclusions: Our study indicating that a fetus carrying a novel nonsense variant of LMX1B (c.844C>T, p.Gln282*) can exhibit isolated talipes equinovarus, which expands the LMX1B genotypic spectrum and is advantageous for genetic counseling. [ABSTRACT FROM AUTHOR]

Objective • This study aimed to assess the efficacy of combining four-dimensional (4D) color ultrasound with maternal serological index testing in prenatal screening for fetal anomalies. Methods • A retrospective analysis was conducted on data from 864 pregnant women who underwent prenatal checkups at the hospital between January 2020 and January 2021. During the mid-pregnancy period, serological tests were performed to determine levels of alpha-fetoprotein (AFP), free β-subunit of human chorionic gonadotropin (Free-HCG β), pregnancyassociated plasma protein A (PAPP-A), and vitamin B12 (VitB12). Additionally, 4D color ultrasound examinations were conducted. The gold standard for evaluation was the results of delivery or labor induction. AFP, Free-HCG β, PAPP-A, and VitB12 levels were compared between the anomaly group and the normal group. The diagnostic efficacy of single and combined detection of serological indexes and 4D color ultrasound was analyzed, with the calculation of the areas under the curve (AUC) for different detection methods. Results • Among the 864 pregnant women, 44 cases (5.09%) exhibited fetal anomalies, while 820 cases (94.91%) did not. The anomaly group showed significantly higher multiples of the median (MOM) values for AFP and Free-HCG β (P < .001) and significantly lower PAPP-A MOM and VitB12 levels (P < .001) compared to the normal group. The sensitivity of single detections for AFP MOM, Free-HCG β MOM, PAPP-A MOM, VitB12, 4D color ultrasound, and combined detection were 63.64%, 68.18%, 65.91%, 54.55%, 77.27%, and 97.93%, respectively. The corresponding AUC values were 0.805, 0.829, 0.818, 0.761, 0.885, and 0.974. Conclusions • The combination of 4D color ultrasound with maternal serological index testing demonstrated high sensitivity in prenatal screening for fetal anomalies. [ABSTRACT FROM AUTHOR]

Objectives: The acceptance of conventional autopsy (CA), the gold standard method for investigating fetal death, often remains problematic. Post-mortem magnetic resonance imaging (PMMRI) is increasingly advocated, particularly for neurologic malformations. However, PMMRI performances to diagnose non-neurologic malformations remain unclear. We aim to clarify whether a full body CA remains needed after prenatal ultrasound (US) and PMMRI in assessing non-neurologic fetal malformations. Methods: In this retrospective IRB-approved study, during a 6-year period, all fetuses who underwent PMMRI, prenatal US, and full body CA were included. Body abnormalities were identified in US, PMMRI, and CA reports. US and PMMRI images were all reviewed. All abnormalities were graded as major (2 points) or minor (1 point). Each technique (US, PMMRI, CA) was given a score by adding all grading points. In each fetus, results were compared for both separate and combined US and PMMRI to CA. Sensitivity and specificity were calculated for detecting major abnormalities. Results: Fifty fetuses were included. The score of CA, US, and PMMRI was respectively 53, 37, and 46. Compared with US-PMMRI, CA added information in 2 cases (4%) with major abnormalities and 7 cases (14%) with minor abnormalities. PMMRI and US were concordant in 36/50 (72%) fetuses. Separate US/PMMRI sensitivities and specificities for detecting major body malformations respectively were 80%/80% and 100%/94%. Combined US-PMMRI had a sensitivity of 90% and a specificity of 94%. Two cardiac malformations (2/6) were only described by CA. Conclusions: After prenatal US and PMMRI, few additional fetal body malformations are discovered with CA. Nevertheless, fetal heart autopsy remains mandatory. Clinical relevance statement: A cardiac conventional autopsy complemented by prenatal ultrasound and post-mortem MRI allows to detect all major fetal body abnormalities. With this efficient and much less invasive approach, a higher acceptance rate of fetal autopsy can be expected. Key Points: • Excepting cardiac malformations, most major fetal body malformations can reliably be identified by prenatal US combined with post-mortem MRI. • In the post-mortem diagnosis of fetal body malformations, a conventional autopsy limited to the fetal heart might replace a full body autopsy after a well-conducted prenatal US and post-mortem MRI. [ABSTRACT FROM AUTHOR]

GM2 gangliosidosis is a hereditary lysosomal storage disorder resulting from mutations in the Hexosaminidase A (HEXA) gene, which leads to a deficiency in the activity of the β HEXA isoenzyme. This condition is characterized by the accumulation of GM2 ganglioside within the lysosomes, which subsequently induces neurological consequences. This study sought to find causal variations in a consanguineous family with two affected children strongly suspected of GM2 gangliosidosis and a 17-week fetus. We conducted whole-exome sequencing (WES) on the genomic DNA of the proband to identify the causative variants. Subsequently, we performed confirmation and co-segregation analysis of the identified variant with the phenotype in the proband, fetus, and family members using Sanger sequencing. Also, cytogenetic evaluation was performed using amniocentesis to identify fetal chromosomal abnormalities. After conducting bioinformatic analysis and applying data filtering techniques, we found a novel homozygous variation [NM_000520.6:c.1378T>C:p.W460R] within the HEXA gene. The identified variant was further confirmed through Sanger sequencing in the proband and segregated with GM2 gangliosidosis and infantile Tay-Sachs disease (TSD) in the family. The single alteration was pathogenic and considered a missense variant that altered the protein features by substituting the highly conserved amino acid tryptophan with arginine at position 460 in the HEXA protein sequence. The findings of this study offer additional support for the genetic heterogeneity of GM2 gangliosidosis and broaden the mutational gene spectrum of this inherited metabolic disorder by finding a novel HEXA pathogenic variant that had not previously been reported in these patients. [ABSTRACT FROM AUTHOR]

Background: With the improvement of basic maternal and child health care services, the deaths due to malnutrition and infections are on a descending trend and due to westernization and lifestyle modifications, perinatal deaths due to anomalies are in ascending trend. Aim & Objectives: The purpose of this study was to estimate the antenatal proportion of congenital anomalies, types, pattern of anomalies and factors associated with anomalies in Tertiary Care Centre, South Gujarat. Settings and Design: Cross-sectional study in Department of Fetal Medicine of New Civil Hospital, Surat. Methods and Material: Sample size was 435. First 10 consecutive high-risk ANC patients, who were referred to Fetal Medicine department from Obstetrics and Gynecology department per day were selected. Data was collected during September 2021 to February 2022. Statistical analysis used: Frequencies, proportions and tests of significance was applied for testing the association of sociodemographic variables, clinical variables etc on presence or absence of congenital anomalies. Results: Proportion of different types of congenital anomalies in high risk pregnant mother was 17.2%. There was significant association between presence of congenital anomalies with history of irregular menstruation (p value: 0.001, OR: 5.19, [CI: 1.76-15.27]) and inadequate amniotic fluid (p value: 0.00, OR: 14.5[CI: 7.23-29.06]). Among total detected anomalies in Ultrasonography scanning, most common anomalies were Cardio-vascular system anomalies (36.4%) and Central Nervous System anomalies (24%). Conclusions: Congenital anomalies were present in about 17 % of high risk antenatal mothers. [ABSTRACT FROM AUTHOR]

Introduction: The use of radiology, especially ultrasonography, is widely prevalent in obstetric care worldwide. Ultrasonography studies during pregnancy are used to identify fetal abnormalities that may impact the health of the fetus as well as that of the child post-delivery. Aims: To determine the normal values of fetal Myocardial Performance Index (MPI) and lay down its importance in the cardiac workup of foetuses. Materials and Methods: This is a Hospital based observational Prospective Study. It's conducted from 1st April 2021 to 30th September, 2022 at Department of Radio-diagnosis in collaboration with Department of Obstetrics & Gynecology, Burdwan Medical College and Hospital. 115 patients were include in this study. Result: Among 115 mothers, 53.9% were primi-gravida, 33.9% were 2nd gravida and rest 12.2% were 3rd gravida, 57.4% undergo Normal vaginal delivery, 17.4% undergo vaginal delivery with induction and 25.2% undergo caesarean section and among 115 babies 82.6% had normal birth weight rest 17.4% were low birth weight babies. Conclusion: We conclude that myocardial performance index is a better predictor of adverse perinatal outcome than an abnormal IVCT or IVRT. Best results are obtained when MPI is used, rather than IVCT, IVRT and ET separately. In our study MPI had the highest sensitivity of 88.8% in predicting adverse fetal outcomes and 92.3% in predicting perinatal mortality. If the MPI ratio is normal, the fetus is unlikely to have major adverse outcome. This information would be reassuring to parents and referring obstetricians and in addition the fetus would not require intensive surveillance. Doppler patterns follow a longitudinal trend with early changes in the E/A ratio with advancing gestational ages. Fetal heart rate shows a declining trend with increasing gestational age. There was no statistically significant correlation between gestational age with MPI, ICT, IRT and ET. [ABSTRACT FROM AUTHOR]

The International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) has developed practice guidelines for performing third-trimester obstetric ultrasound scans. These guidelines provide recommendations for determining placental location and fetal presentation, measuring fetal biometry, identifying fetal anomalies, evaluating amniotic fluid volume, and documenting fetal and uterine artery Doppler findings. The guidelines also address screening for small-for-gestational age (SGA) and macrosomia, as well as the timing of the ultrasound scan. However, the guidelines do not address routine third-trimester ultrasound scans for low-risk pregnancies or other high-risk complications. The guidelines emphasize the importance of individual circumstances, local protocols, and available resources in interpreting the evidence and making decisions. [Extracted from the article]

Background: Microphthalmia is a rare autosomal recessive condition commonly known as Waardenburg anophthalmia syndrome (WAS) or oculo-acromal formation syndrome (MIM#206920).Case Description: Here, we report the case of a woman whose fetal ultrasonography at 12 weeks of pregnancy revealed multiple fetal abnormalities. These included the absence of the left upper limb, an unclear display of the right orbit, a visible maxillary space, and a round, echoless appearance measuring 4 mm in diameter in the middle of the forehead. There was also a significant echo in the sac wall. The possibility of a frontal meningocele or a proboscis-like nose was considered. The fetus was delivered with absence of the left upper limb, absence of the right eye, a cleft lip on the right side, and a milky white sac with a diameter of 5 mm on the forehead after the pregnancy was terminated at the hospital. Pathological investigation revealed a mature cystic teratoma. The conclusion was microphthalmia with limb anomalies (MLA) after missing limbs, absence of eyes, and cleft lip were input into the Online Mendelian Inheritance in Man database. The case was diagnosed with fetal microphthalmia with limb anomalies and an interfrontal teratoma.Conclusion: In this case, the entire exon analysis was not conducted, and as a result, the final diagnosis remains unclear. Based exclusively on the phenotype of the induced fetus, MLA was diagnosed. It is proposed that cases satisfying the requirements for a pathological diagnosis should undergo a pathological examination to establish a definitive diagnosis. [ABSTRACT FROM AUTHOR]

Aim: This study aimed to evaluate the pregnancy outcomes of patients who applied to our clinic between the 11th and 14th weeks of pregnancy and whose nuchal translucency (NT) measurement was ≥1.5 multiples of the median (MoM). Material and Methods: The study included 85 patients whose NT measurement was determined ≥1.5 MoM and pregnancy results were available. Demographic characteristics of the patients, prenatal invasive diagnostic test results, fetal anomaly screening, fetal echocardiography (ECHO) results, and neonatal and obstetric results were evaluated. Results: Abnormal karyotype was detected in 10.6% (n=9) of the patients. Trisomy 21 was the most common chromosomal anomaly. Fetal structural anomaly was detected in 29.4% (n=25) of the patients. A structural fetal anomaly was detected in 21% (n=13) of fetuses with normal karyotypes and 66.7% (n=6) of fetuses with abnormal karyotypes. Cardiac anomalies were found to be the most common anomalies with 9.7% (n=6) in patients with normal karyotype. NT and NT MoM values in patients with fetal structural (both p=0.001) or chromosomal anomalies (p=0.011, and p=0.019, respectively) were found significantly higher than those without. NT and NT MoM values in patients whose pregnancies resulted in fetal loss were found significantly higher than in patients who had a live birth (both p=0.001). Conclusion: Increasing NT or NT MoM values indicate an increase in the risk of chromosomal anomalies, structural anomalies, and poor pregnancy outcomes in the fetus. Fetal anomaly screening and fetal ECHO should be recommended in patients with increased NT, even if a normal karyotype is detected. [ABSTRACT FROM AUTHOR]

This study aimed to assess the utility of chromosomal microarray analysis (CMA) and noninvasive prenatal testing (NIPT) in detecting clinically significant chromosomal abnormalities among fetuses presenting ultrasonic soft markers (USMs). Methods: A retrospective observational study, spanning from January 1, 2019, to September 30, 2022, enrolled 539 singleton pregnant women with fetal USMs at our center. Of these, 418 cases (77.6%) underwent NIPT, while 121 cases (22.4%) opted for invasive prenatal diagnosis post-appropriate genetic counseling. Cases with high-risk NIPT results proceeded to invasive prenatal diagnosis, where conventional karyotyping and CMA were concurrently performed. Further stratification was done based on the number of USMs, classifying cases into single-USM and multiple-USM groups. Results: Of the 24 cases (4.5%) exhibiting abnormal findings, 17 presented numerical chromosomal abnormalities, 2 featured clinically significant copy number variations (CNVs), 3 showed variants of unknown significance (VOUS), 1 displayed LOH, and 1 exhibited chromosome nine inversion. Notably, 18 cases (75%) theoretically detectable by karyotyping (eg, sizes above 10Mb) and 16 cases (66.7%) detectable by NIPT for five common aneuploidies were identified. Six submicroscopic findings (25%) were exclusively detectable by CMA. The predominant clinically relevant aberrations were observed in the thickened nuchal-translucency (TNT) group (9/35, 25.7%), followed by the multiple soft markers group (3/32, 9.3%). In the NIPT group, the false positive rate was 1.22%, and the false negative rate was 0%. Conclusion: The prevalence of chromosome aneuploidy exceeded that of submicroscopic chromosomal imbalance in pregnant women with fetal USMs. NIPT demonstrated efficacy, particularly for soft markers like echogenic intracardiac focus. However, for those with TNT and multiple soft markers, invasive prenatal diagnosis, including CMA testing, is recommended as the primary investigative approach. [ABSTRACT FROM AUTHOR]

Single umbilical artery (SUA) is an uncommon yet clinically noticeable anomaly that has been suspected to be correlated with a wide range of pregnancy complications. We hereby present a 30-year-old pregnant woman who was diagnosed with SUA fetus in the 20th week of her pregnancy and was admitted to our center in the 33rd week. During the hospitalization, Doppler studies were performed to monitor fetal development. Later, fetoplacental insufficiency and brain-sparing effect were reported on Doppler ultrasound, indicating asymmetrical Intrauterine growth restriction (IUGR). SUA might be associated with concurrent fetal anomalies including cardiological, nephrological, gastrointestinal, and nervous disorders. Moreover, there is an increased risk of small for gestational age and IUGR compared with normal pregnancies. It is crucial to assess the umbilical cord anatomy during pregnancy to diagnose SUA at lower gestational ages and schedule a precise follow-up to prevent adverse outcomes. [ABSTRACT FROM AUTHOR]

Background & Objective: Evaluation of the alpha-fetoprotein is one of the screening tests during pregnancy. The purpose of this study was to determine the relationship between the level of alpha-fetoprotein in amniotic fluid (AF-AFP) and adverse pregnancy outcomes. Materials & Methods: This comparative analytical study was performed on 244 pregnant women who referred to a private prenatal clinic in Rasht (Iran). Amniocentesis was performed on pregnant women with maternal serum alpha-fetoprotein (MS-AFP) was higher than 2.5MoM in the second trimester and based on this finding, participants were divided into four groups of 61 patients. The first group (control group) included pregnant women with normal MS-AFP, the second group included pregnant women with high MS-AFP and normal AF-AFP, the third group included pregnant women with high MS-AFP and low AF-AFP and the fourth group included pregnant women with high MS-AFP and high AF-AFP. Results: Adverse outcomes include abortion (6.6%), stillbirth (6.6%), IUGR (18%), LBW (29.5%), PTL (21.3%), fetal abnormalities (4.9%), preeclampsia (14.8%), gestational diabetes (8.2%), in the fourth group (high AF-AFP) was higher than other groups. The incidence of adverse pregnancy outcomes in the fourth group was 1.2 times higher than the control group, and this relationship was borderline statistically significant (P=0.056). Conclusion: Considering that adverse pregnancy outcomes are important causes of mortality and morbidity, early diagnosis of high-risk pregnancies and efforts for preventive interventions can be associated with reducing mortality and morbidity. Therefore, evaluation of the level AF-AFP can be helpful in determining adverse pregnancy outcomes. [ABSTRACT FROM AUTHOR]

OBJECTIVES: In this study, we aimed to assess the diagnostic accuracy of prenatal Ultrasonography (USG) and Magnetic Resonance Imaging (MRI) in fetal congenital anomalies. STUDY DESIGN: A retrospective cross-sectional analysis was conducted on 148 patients who had previously undergone prenatal MRI between January 2013 and May 2023. A total of 185 anomalies in 148 fetuses were evaluated using USG and MRI. The prenatal diagnoses were compared with definitive diagnoses and were classified as diagnosed, partially correct, questionable, or undiagnosed. In addition, USG and MRI findings were compared in terms of their consistency and consolidation. RESULTS: The postnatal evaluation revealed a total of 185 anomalies in 148 fetuses. USG diagnosed 94% of these anomalies, while MRI diagnosed 95.1% of them. Both USG and fetal MRI were able to diagnose 91.9% (n=170) of anomalies during the prenatal period. Fetal MRI provided an additional contribution to USG in the diagnosis of six anomalies (3.24%). CONCLUSION: In fetuses undergoing detailed ultrasonography and specialized neurosonography by experienced professionals, additional fetal anomalies exclusively detected through MRI are now found to be lower than previously documented. However, fetal MRI is presently employed to offer supplementary information, and advice, and assist in clinical decision-making. In the future, extensive prospective studies with standardized protocols for ultrasound imaging of the fetal brain are necessary to better understand the true role of fetal MRI in cases where fetal neurosonography has already been performed. [ABSTRACT FROM AUTHOR]

Body stalk anomaly is a term used to describe a pattern of severe defects that are incompatible with life. This condition should be suspected when encountering a large abdominal defect, along with axial skeletal abnormalities such as kyphosis or scoliosis and a short or absent umbilical cord. Body stalk anomaly is considered a fatal anomaly, thus being crucial to distinguish it from other anterior wall defects when evaluating the management options. We report the case of a patient diagnosed at 15 weeks of gestation with a complex of severe fetal anomalies that were confirmed after the termination of pregnancy as body stalk anomaly, and we also discuss data published in literature regarding this topic. [ABSTRACT FROM AUTHOR]

Background: About 31 individuals with CLTC variants have been reported worldwide, and all reported individuals have motor and mental retardation. CLTC is known to lead to intellectual developmental disorder, autosomal dominant 56. Few studies are focusing on the prenatal stage of the disease. Method: An ultrasound examination was performed to obtain the prenatal phenotype. Whole-exome sequencing was used to find the pathogenic variant. Multiple computational tools predicted the conservation and deleteriousness. Minigene assay and western blot were utilized to investigate the effect on splicing of mRNA and protein expression. Result: Here we found a novel de novo variant of CLTC in a fetus. The fetus manifested bilateral choroid plexus cysts of the brain, hyperechogenic kidneys, and ventricular septal defect. A heterozygous variant c.3249 + 1G > C was identified in the fetus. This position was conserved and the variant was predicted to be deleterious. Minigene assay revealed the presence of a truncating transcript with the retention of intron 20. Western blot result showed the c.3249 + 1G > C variant elicited degradation of the protein. Conclusion: To the best of our knowledge, our study identified a novel de novo variant of CLTC and provided the earliest clinical characteristic of the CLTC variant at the prenatal stage. The functional experiment suggested the variant caused the altering of the RNA splicing and the protein expression. We extended the mutational spectrum of CLTC and provided guidance on genetic counseling. [ABSTRACT FROM AUTHOR]

Background: Congenital anomalies diagnosed on Ultrasound scan, autopsy plays a vital role in confirming the diagnosis and many times gives information regarding additional malformations. Autopsy on dead fetuses/infants helps the parents by giving information regarding the recurrence risk of fetal anomaly. This study confirms the utility of fetal autopsy in identifying the cause of fetal loss which will indicate the need in genetic counseling of the couple. Aim: The study is done to record the incidence of congenital malformations in Fetal Autopsy. Details are collected from the department of Obstetrics and Gynecology. Methodology: A total of 98 fetal autopsies were done in the department of Pathology in a tertiary care teaching hospital, South India from the period of June 2015 to May 2020. Results: In 98 autopsies performed, 90 were fetal deaths and 8 neonatal deaths. Out of 62 autopsies on male fetuses, 22 had congenital malformations and of 36 autopsies on female fetuses, 14 had congenital malformations. Congenital anomalies were commonest in the birth weight group of <1000 gms, accounting for 28 cases. Most of the fetal deaths occurred in mothers with age group of 21-30 accounting to 27 cases out of 72 autopsies. Incidence of congenital anomalies was highe st in primigravida. Congenital malformations were seen in 36 cases which accounted for 36.7% of fetal and early neonatal deaths. Malformations of the central nervous system (33.3%) were the most common. Neural tube defects like anencephaly and spina bifida were seen in 8 cases. The second most common anomalies were encountered in Gastrointestinal system (19.4%), followed by genito-urinary system (13.8%) and cardiovascular system (8.3%). Tracheo esophageal fistula was the only case seen involving the respiratory system. Rare cases like Prune belly syndrome, Jarcho Levin syndrome were observed. Two cases of cystic hygroma and one case of Phocomelia with a history of Thalidomide intake by the mother were seen. Conclusion: Due to financial constraints only karyotyping was performed in the present study. Further studies including molecular biology should be carried out to identify more cases with congenital anomalies so that proper genetic counseling can be given to the parents to avoid subsequent anomalous births. [ABSTRACT FROM AUTHOR]

In order to assess the fetus health and make timely decisions throughout pregnancy, Fetal Electrocardiography (FECG) monitoring is essential. Huge datasets for electrocardiograms are freely accessible from Physionet ATM Dataset1- Abdominal and Direct Fetal ECG Database (adfecgdb), Dataset2- Fetal ECG Synthetic Database (fecgsyndb), Dataset3- Non-Invasive Fetal ECG Database(nifecgdb). In this study, categorization is done based on normal and abnormal (Atrial fibrillation) FECG from three online dataset which contains FECG recordings as major details. Deep learning models like Transfer Learning (TL) and Convolutional Neural Networks (CNN) are being investigated. The composite abdominal signal and the FECG are separated using a wavelet transform approach. The best model for categorizing the parameters of the FECG is determined through a comparative analysis and performance is improved using Continuous Wavelet Transform (CWT). The accuracy of the CNN-based technique is found to be 98.59%, whereas the accuracy of the transfer learning model is 99.01% for FECG classification. The computation of metric parameters for all the datasets is done. The classification of normal and abnormal (Atrial fibrillation) is best performed in TL model compared to CNN. Real-time data analysis is done for PQRST plotting and comparative study is done using Net Reclassification Improvement (NRI) and obtained NRI = 13%, z static 0f 3.7641, p-Value of 0.00016721. Acute Myocardial Infraction (AMI) identification is done based on ST segment of Maternal ECG (MECG) images to analyze the heart attack risk. The proposed work can be utilized to track FECG waveforms in real-time for wearable technology because of its end-to-end properties and expandable intrinsic for diagnosing multi-lead heart disorders. [ABSTRACT FROM AUTHOR]

Distinguishing patterns of grief over time in parents with a loss in pregnancy or during the neonatal period is important for identification of parents with severe grief symptoms, who may need additional support. Our aim was to describe grief in this population and to examine variations by type of loss in a large prospective cohort. We used questionnaire data from the Danish longitudinal cohort, Life After the Loss, which contains information on parents with a loss in pregnancy (from 14 weeks) or during the neonatal period. Parents completed the Prolonged Grief-13 scale at 1, 7, and 13 months after their loss. We applied Latent Growth Mixture Modelling to identify prolonged grief trajectories and used multinomial regression models to assess factors associated with class membership. Three distinct trajectories were identified in 676 parents: resilience (73.1%), recovery (16.9%), and chronic (10%). The distribution varied by type of loss, and the chronic group were overrepresented by parents with stillbirths (16.2%) and neonatal deaths (16.1%) in contrast to parents with spontaneous abortions (8.2%) and termination of pregnancy due to fetal anomalies (6.2%). Furthermore, not having a living child or being a woman was associated with following the chronic trajectory. These results underline that, while most bereaved parents are resilient, 10% experience consistently high levels of grief symptoms during the first year after the loss. Information on type of loss, gender, and whether the parent has living children are meaningful indicators of grief class membership. • Latent Growth Mixture Modelling identified grief trajectories in parents with a pregnancy or neonatal loss. • Three trajectories emerged: resilient (76.1%) , recovery (16.9%) , and chronic (10%). • Type of loss was a meaningful indicator of grief trajectory. [ABSTRACT FROM AUTHOR]

Fetal surgical anomalies cause significant anxiety. Following the diagnosis, prenatal counseling with shared decision-making occurs. Empowerment is an essential component of shared decision-making. The purpose of this mixed-methods study was to evaluate the association between patient empowerment with depression and anxiety among patients with fetal surgical anomalies. An explanatory mixed-methods study was conducted at a large tertiary fetal center among patients with recently diagnosed surgical fetal anomalies from May, 2021 to May, 2022. Validated cross-sectional surveys were used to collect quantitative data regarding patient empowerment, depression, and anxiety. Univariate analysis was used to compare the association of maternal empowerment with depression and anxiety. Qualitative data was obtained from semistructured interviews to explore maternal anxiety and depression relative to the fetal diagnosis. Thematic analysis was performed to identify themes. Seventy-four patients were recruited for the quantitative study. Pregnancy-related empowerment score and patient empowerment score were significantly lower for expectant mothers with high anxiety (P < 0.01). Eighteen patients participated in qualitative interviews. Participants expressed significant anxiety related to their fetal diagnosis. Exacerbating stressors included social determinants, personal history of miscarriage, and changing family dynamics. Our results suggest there is an association between increased depression and anxiety with lower empowerment. These findings have important implications for prenatal counseling, as targeted interventions to improve psychosocial support to treat depression and anxiety might also improve empowerment. [ABSTRACT FROM AUTHOR]

Objectives: Single umbilical artery (SUA) is considered the most common abnormality of the umbilical artery. The objective of the study was to evaluate the perinatal prognosis of fetuses with SUA and to describe the associated malformations. The significance of the study is represented by examining whether our findings are in correlation with data already described. Methods: We performed a prospective cohort study on singleton pregnancies complicated with SUA. The study population was composed of women with singleton pregnancies who were examined at the Department of Obstetrics and Gynecology of the Târgu Mures County Emergency Clinical Hospital between 2012 and 2021. Results: The incidence of SUA in the study population was 0.48%. C-section was performed in 40 cases with SUA and in 5258 cases with no SUA (RR:1.56, P<0.05.) From the total number of 2249 premature deliveries, 23 newborns were diagnosed with SUA (RR:2.12, P<0.05.) From the total number of 869 deliveries with low birth weight (LBW) newborns, 13 were associated with SUA (RR: 3.12, P<0.05.) There were 206 pregnancies noted with antenatal fetal demise after 24 weeks of gestation, and only 2 of them were with SUA (RR:2.01, P>0.05.) Fetal and neonatal malformations were described in 290 cases, and 28 were associated with SUA (R:21.96, P<0.05.) In 57 of 85 cases (67.05%), we found iSUA, and 28 newborns (32.95%) had minor, major, or other associated pathologies. We found two cases of trisomy 18 and one case with trisomy 13 associated with SUA. Investigating the malformations associated with SUA, the most common were cardiac and great vessels malformations (12), followed by limb malformations (8), urogenital malformations (7), digestive tract malformations (7), central nervous system malformations (4), and in one case we found cleft palate. Conclusions: Perinatal prognosis regarding SUA is significantly poorer than in cases without this pathology. One-third of fetuses with SUA were associated with fetal anomalies. The most common pathologies associated with SUA were cardiovascular, limb, urogenital, and digestive system malformations. Our data are similar to those described in other studies; therefore, we conclude, we can implement the general recommendations in our region regarding counselling patients. [ABSTRACT FROM AUTHOR]

Multifetal gestations are at increased risk for structural anomalies relative to singletons. Determination of chorionicity is critical, as the risk is highest for monochorionic pregnancies. In a singleton gestation, counseling is structured around optimization of fetal outcomes and careful consideration of the patient's choices in management decisions. However, in multifetal gestations affected by a fetal anomaly, complex counseling with consideration for the pregnancy as a whole is necessary. We review the incidence of structural anomalies in twins and highlight unique considerations including selective termination for discordant anomalies. We emphasize the role of shared decision making between provider and patient. [ABSTRACT FROM AUTHOR]

Monoamniotic twins comprise a rare subset of twins at risk of unique and serious complications. In addition to the risks faced by all twins (premature birth, growth restriction), all monochorionic twins (twin-to-twin transfusion syndrome), and all monozygotic twins (congenital anomalies), monoamniotic twins face the unique risk of cord entanglement, in addition to a markedly increased risk of congenital anomalies. Early diagnosis, screening for fetal anomalies and surveillance for twin-twin transfusion syndrome are critical. After fetal viability, frequent fetal monitoring reduces the risk of intrauterine fetal demise. [ABSTRACT FROM AUTHOR]

Objective: To characterize fetal growth in dichorionic twins using individualized growth assessment (IGA), a method based on individual growth potential estimates. Methods: This secondary analysis included 286 fetuses/neonates from 143 dichorionic twin pregnancies that were part of the ESPRiT (Evaluation of Sonographic Predictors of Restricted Growth in Twins) study. The sample was subcategorized according to birth weight into appropriate‐for‐gestational‐age (AGA) (n = 243) and small‐for‐gestational‐age (SGA) (n = 43) cohorts. Serial biometric scans evaluating biparietal diameter, head circumference (HC), abdominal circumference, femur diaphysis length and estimated weight at 2‐week intervals were used to evaluate fetal growth, while measurements of birth weight, crown–heel length and HC determined neonatal growth outcome. Six abnormalities (hypoxic ischemic encephalopathy, periventricular leukomalacia, necrotizing enterocolitis, respiratory distress, sepsis and death) constituted the evaluated adverse neonatal outcomes (ANO). IGA was used to: evaluate differences in second‐trimester growth velocities between singletons (from a published dataset) and dichorionic twins (138 AGA twins with normal third‐trimester growth); describe the degree to which actual third‐trimester growth in twins followed expected growth (111 AGA twins, normal fetal growth and neonatal growth outcomes); determine if the fetal growth pathology score 1 (–FGPS1) could detect, quantify and classify twin growth pathology (224 AGA, 42 SGA); and assess the relationship between –FGPS1 and ANO (24 SGA twins with progressive growth restriction confirmed by abnormal neonatal growth outcome). Results: The differences in second‐trimester growth velocity between singletons and twins (means and variances) were small and not statistically significant. Percent deviations from the expected third‐trimester size trajectories were within the 95% reference ranges derived from singletons at 95.7% (1677/1752) of timepoints studied. Abnormal growth was detected in 37.9% of AGA twins and 85.7% of SGA twins. Growth restriction was more heterogeneous in AGA twins, while in SGA twins progressive growth restriction was the principal type (66.7%). –FGPS1 patterns previously defined in singletons classified 97.5% of pathological twin cases. In our most severe form of growth restriction (progressive), there were only three (12.5%) ANOs related to growth abnormalities, all in cases with –FGPS1 values more negative than –2.0%. Using these criteria, the frequency of ANO was 33%. Conclusions: With respect to growth, dichorionic twins can be considered as two singletons in the same uterus. Normally growing dichorionic twins have the same growth potential as singletons with normal growth outcome. These twins also follow expected third‐trimester growth trajectories with the same precision as do singletons. Third‐trimester growth pathology can be detected, quantified and classified using –FGPS1 as in singletons. Limited evidence of a relationship between fetal growth abnormalities and adverse neonatal outcome was found. © 2023 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objectives: Congenital knee dislocation (CKD) is a rare condition, affecting 1 in 100 000 newborns. Its prenatal diagnosis is challenging and not well described in the literature, especially when it appears isolated and not as part of a complex malformation or syndromic pattern. The purpose of this study was to provide a comprehensive review of the available literature on the prenatal diagnosis and postnatal outcome of CKD and to summarize the current evidence on this topic. Methods: A systematic review of the literature on the prenatal diagnosis of CKD was performed in PubMed, Scopus and EMBASE. A predefined combination of specific keywords was used, focusing on intrauterine manifestations, diagnostic methods, prenatal behavior, postnatal treatment and neonatal outcome as well as long‐term outcome in terms of ambulation, motion and joint stability. The quality of studies was assessed using the National Institutes of Health tool for quality assessment of case series. A summary of results was carried out providing proportions and rates of diagnostic and prognostic features associated with this rare condition. Results: In total, 20 cases were retrieved for analysis, of which 19 were obtained from the identified eligible studies (n = 16) and one was an unpublished case from our center. The median gestational age at prenatal diagnosis, which was made using ultrasound in most cases, was 20 weeks (range, 14–38 weeks). Bilaterality was observed in 11/20 (55%) cases. The condition was isolated in 7/20 (35%) cases and associated with other anomalies in 13/20 (65%) cases. An association was observed with oligohydramnios (4/20 (20%)), and an invasive procedure was performed in 13/20 (65%) cases, including 11 cases with an invasive procedure performed for diagnostic purposes. Genetic testing was normal in all isolated cases for which information was available (4/7), while a genetic syndrome was present in 10/13 (77%) non‐isolated cases (Larsen, Noonan, Grebe, Desbuquois or Escobar syndrome). There were seven terminations of pregnancy, of which six were performed in cases with associated anomalies and one in an isolated case, 11 cases of postnatal survival, one case of intrauterine death and one of neonatal death. The fetal and neonatal deaths occurred in cases with associated anomalies or abnormal genetic findings. Postnatal treatment was mostly conservative, with only two reports (18% of the 11 surviving neonates) of surgical intervention, both in cases with associated anomalies. Postnatal follow‐up was up to 1 year in most cases, and motor outlook appeared normal in all isolated cases. Conclusions: CKD is a rare fetal anomaly with a prenatal diagnosis achievable from the early second trimester, for which a favorable outcome can be expected when no associated anomalies are present. Prenatal diagnosis should include detailed ultrasound assessment and amniocentesis for extensive genetic studies, particularly in non‐isolated cases. Early postnatal treatment achieves success in most cases without surgical intervention and leads to a normal motor outlook. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Hypertension is common during pregnancy, complicating ∼10–15% of all pregnancies in the UK. The number of women who enter pregnancy affected by chronic hypertension is less clear, but has been estimated at ∼3%. Risk factors for chronic hypertension include maternal race and ethnicity, age, and body mass index (BMI). The changing demographics of today's antenatal population mean that pre-existing hypertension in pregnancy is an increasing clinical problem. Chronic hypertension in pregnancy can be defined as hypertension known to be present prior to conception or first recognised before 20 weeks of gestation. Patients with chronic hypertension are at risk of a variety of adverse maternal and fetal outcomes, and hence should have a comprehensive plan of care. Optimal care includes pre-conceptual counselling, frequent antenatal visits during pregnancy, timely delivery, appropriate intrapartum monitoring, and postpartum follow up. The relative risk of superimposed pre-eclampsia in women with chronic hypertension is nearly eightfold higher than in the general population, and all adverse neonatal outcomes are at least twice as likely to occur compared to the general population. [ABSTRACT FROM AUTHOR]

Zika virus (ZIKV) has emerged as a significant public health threat, reaching pandemic levels in 2016. Human infection with ZIKV can manifest as either asymptomatic or as an acute illness characterized by symptoms such as fever and headache. Moreover, it has been associated with severe neurological complications in adults, including Guillain–Barre syndrome, and devastating fetal abnormalities, like microcephaly. The primary mode of transmission is through Aedes spp. mosquitoes, and with half of the world's population residing in regions where Aedes aegypti, the principal vector, thrives, the reemergence of ZIKV remains a concern. This comprehensive review provides insights into the pathogenesis of ZIKV and highlights the key cellular pathways activated upon ZIKV infection. Additionally, we explore the potential of utilizing microRNAs (miRNAs) and phytocompounds as promising strategies to combat ZIKV infection. [ABSTRACT FROM AUTHOR]

Background: The high incidence of non-cardiac congenital anomalies in high-risk pregnancies is a major worldwide health problem. Congenital deformities represent 20–25% of perinatal deaths. The best non-invasive screening method for diagnosing congenital abnormalities is ultrasound. Four-dimensional ultrasound added additional diagnostic value to two-dimensional ultrasound in evaluating fetal prenatal conditions. Our study's goal was to compare the roles of two-dimensional and four-dimensional ultrasound in the diagnosis of non-cardiac fetal congenital anomalies in high-risk pregnancies. Results: Out of the 100 pregnant women who underwent examinations, all had high-risk pregnancies and were expected to give birth to babies with deformities, a total of 25 cases (or 25%) of fetal abnormalities were found. The two-dimensional ultrasound diagnosis's accuracy sensitivity, and specificity were 84%, 76%, and 86.67%, respectively, while they were 87%, 80%, and 89.33%, respectively, for four-dimensional ultrasound. The accuracy, sensitivity, and specificity of two-dimensional ultrasound combined with four-dimensional ultrasound were significantly higher (94%, 88%, and 96%, respectively) than those of two-dimensional ultrasound or four-dimensional ultrasound alone. This study also analyzed the risk factors leading to fetal malformations. The results showed that consanguinity, increased maternal age, past history or family history of congenital anomalies, history of medication during pregnancy, and maternal diabetes were major risk factors statistically significant for congenital anomalies. Conclusion: The diagnosis rate of fetal abnormalities can be significantly increased by combining two-dimensional ultrasound with four-dimensional ultrasound. Avoiding risk factors that raise the likelihood of fetal abnormalities should take priority for pregnant women with high risk factors. To lower the incidence of fetal abnormalities, prenatal screening and diagnosis should be standardized. [ABSTRACT FROM AUTHOR]

Background: With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication. The study aimed to explore the molecular etiology of fetal TE and provide more information for the clinical screening and genetic counseling of TE by Chromosomal Microarray Analysis (CMA). Methods: This retrospectively study included 131 fetuses with TE identified by ultrasonography. Conventional karyotyping and SNP array analysis were performed for all the subjects. They were divided into isolated TE group (n = 55) and complex group (n = 76) according to structural anomalies. Results: Among the total of 131 fetuses, karyotype analysis found 12(9.2%) abnormal results, while SNP array found 27 (20.6%) cases. Trisomy 18 was detected most frequently among abnormal karyotypes. The detection rate of SNP array was significantly higher than that of traditional chromosome karyotype analysis (P < 0.05). SNP array detected 15 (11.5%) cases of submicroscopic abnormalities that karyotype analysis did not find. The most common CNV was the 22q11.2 microdeletion. For both analyses, the overall detection rates were significantly higher in the complex TE group than in the isolated TE group (karyotype: P < 0.05; SNP array: P < 0.05). The incremental yield of chromosomal abnormalities in fetuses with unilateral TE (22.0%) was higher than in fetuses with bilateral TE (19.8%), but this difference was not statistically significant (P > 0.05). Abnormal chromosomes were most frequently detected in fetuses with TE plus cardiovascular system abnormalities. Conclusion: Fetal TE is related to chromosomal microdeletion or microduplication. Prenatal diagnosis is recommended for fetuses with TE, and CMA testing is preferred. CMA can improve the detection rate of chromosomal abnormalities associated with fetal TE, especially in pregnancies with complex TE. [ABSTRACT FROM AUTHOR]

Introduction: Fetal alcohol spectrum disorders (FASD) range from fetal alcohol syndrome (FAS) to non-syndromic forms (NS-FASD). The neuroanatomical consequences of prenatal alcohol exposure are mainly the reduction in brain size, but also focal abnormalities such as those of the corpus callosum (CC). We previously showed a narrowing of the CC for brain size, using manual measurement and its usefulness to improve diagnostic certainty. Our aim was to automate these measurements of the CC and identify more recurrent abnormalities in FAS subjects, independently of brain size reduction. Methods: We developed a fast, automated, and normalization-free method based on spectral analysis to generate thicknesses of the CC continuously and at singular points (genu, body, isthmus, and splenium), and its length (LCC). We applied it on midsagittal section of the CC extracted from T1-anatomical brain MRI of 89 subjects with FASD (52 FAS, 37 NS-FASD) and 126 with typically development (6--20 y-o). After adjusting for batch effect, we compared the mean profiles and thicknesses of the singular points across the 3 groups. For each parameter, we established variations with age (growth charts) and brain size in the control group (scaling charts), then identified participants with abnormal measurements (<10th percentile). Results: We confirmed the slimming of the posterior half of the CC in both FASD groups, and of the genu section in the FAS group, compared to the control group. We found a significant group effect for the LCC, genu, median body, isthmus, and splenium thicknesses (p < 0.05). We described a body hump whose morphology did not differ between groups. According to the growth charts, there was an excess of FASD subjects with abnormal LCC and isthmus, and of FAS subjects with abnormal genu and splenium. According to the scaling charts, this excess remained only for LCC, isthmus and splenium, undersized for brain size. Conclusion: We characterized size-independent anomalies of the posterior part of the CC in FASD, with an automated method, confirming and extending our previous study. Our new tool brings the use of a neuroanatomical criterion including CC damage closer to clinical practice. Our results suggest that an FAS signature identified in NS-FASD, could improve diagnosis specificity. [ABSTRACT FROM AUTHOR]

Objective: To describe indications, test types, and results of prenatal diagnostic genetic amniocentesis among Ethiopian pregnant women. Methods: This study was a descriptive study on prenatal diagnostic genetic testing among Ethiopian pregnant women with certain indications and it was conducted at St. Paul's Hospital Millennium Medical College (Addis Ababa, Ethiopia) from January 2017 to April 2023. Data on sociodemographic characteristics, genetic testing indications, types, and results were collected electronically. Data were analysed using SPSS version 23. Results: A total of 159 cases were analysed. The commonest indication for genetic testing among the study subjects was major fetal structural anomalies identified on specialized prenatal anatomic scanning of the index pregnancy detected in 71(44.7%) cases. Down syndrome and Edward syndrome were the commonest genetic aberrations detected accounting for 6.3% (10/159) and 4.4% (7/159), respectively. Among the rare genetic aberration detected were Di-George syndrome (0.6%) and Duchenne muscular dystrophy (0.6%). Conclusion: Findings of our study underscore the importance of diagnostic prenatal testing in a Sub-Saharan Africa setting, as common (trisomy 21&18) and rare genetic defects were identified using this important prenatal diagnostic testing. Considering the implications of detecting chromosomal abnormalities for future counselling and care, carrier state in parents for some chromosomal anomalies, and planning post-natal management of some abnormalities that are associated with aneuploidies (notably cardiac anomalies), initiation of diagnostic prenatal genetic testing service at tertiary public health facilities should be acted up on. [ABSTRACT FROM AUTHOR]

Fetal development is a critical phase in prenatal care, demanding the timely identification of anomalies in ultrasound images to safeguard the well-being of both the unborn child and the mother. Medical imaging has played a pivotal role in detecting fetal abnormalities and malformations. However, despite significant advances in ultrasound technology, the accurate identification of irregularities in prenatal images continues to pose considerable challenges, often necessitating substantial time and expertise from medical professionals. In this review, we go through recent developments in machine learning (ML) methods applied to fetal ultrasound images. Specifically, we focus on a range of ML algorithms employed in the context of fetal ultrasound, encompassing tasks such as image classification, object recognition, and segmentation. We highlight how these innovative approaches can enhance ultrasound-based fetal anomaly detection and provide insights for future research and clinical implementations. Furthermore, we emphasize the need for further research in this domain where future investigations can contribute to more effective ultrasound-based fetal anomaly detection. [ABSTRACT FROM AUTHOR]

Aim: Fetal urinary tract dilation (UTD) abnormalities affect 1-5% of all pregnancies. The new UTD classification system was introduced in the year 2014 in order to have uniformity in its diagnosis and management. The present study aims to investigate the clinical utility of the new UTD classification system in antenatal prediction/prognostication of severity. Materials and methods: We conducted a single-center audit of 66 consecutive patients (Jan-Dec 2021) with antenatally diagnosed UTD delivered in our hospital and managed in our pediatric unit postnatally. Ultrasound evaluation of the fetal renal system, both antenatal and postnatal were observed, and UTD-A and UTD-P classification were applied prospectively and retrospectively in all cases as per criteria defined in the new UTD classification. Postnatal outcomes in all cases were evaluated in terms of the need for immediate postnatal surgical intervention and the presence of persistent UTD pathology. Results: There were 51 fetuses in the UTD A1 risk group (Group A) and 15 fetuses in the UTD A2-3 risk group (Group B). Among the groups 10/51 (20%) in UTD A1 group had persistent abnormality [vesicoureteric reflux (VUR) n = 2, non-obstructive dilation (NOD) n = 8] while 12/15 (80%) in UTD A2-3 group had persistent abnormality [pelviureteric junction obstruction (UPJO) n = 1, (NOD) n = 4, (VUR) n = 3, megalourethra n = 1, posterior urethral valve (PUV) n = 3] and this difference was statistically significant (p = 0.001). Among UTD A1, 1/51 (2%) needed surgical intervention [(VUR) with urinary tract infection, n = 1], while in UTD A2-3 group 5/15 (33%) [(UPJO) n = 1, megalourethra n = 1, posterior urethral valve (PUV) n = 3] needed surgical intervention (p = 0.001). Conclusion and clinical significance: We found an increased frequency of complications and surgical interventions in infants with antenatal UTD A2-3 grades in the last prenatal scan in comparison with those with UTD A1 grades. The present study reiterates the usefulness of UTD classification. [ABSTRACT FROM AUTHOR]

To describe embryonic and fetal tiny pericardial fluid collections (PFCs) using transvaginal sonography and HDlive Silhouette at less than 12 weeks of gestation. During an 8-month period from November 2021 to June 2022, one-hundred and thirty transvaginal scans were performed for first-trimester dating, and eleven tiny PFCs of the embryo or fetus were identified at 8+4 – 11+3 weeks of gestation (three at 8, six at 9, and two at 11 weeks). HDlive Silhouette features of PFC were evaluated. Their clinical characteristics and outcomes were also investigated. The incidence of tiny PFCs was 8.5 % at less than 12 weeks of gestation. The mean gestational age at the initial examination was 9.5 weeks (SD: ± 0.9). The mean crown-rump length was 25.0 mm (SD: ± 8.5). The mean PFC dimension was 0.8 mm (range: 0.5–1.3, SD: ± 0.2). Pleural effusion was associated with 3 out of 11 PFCs (27.2 %). Ascites was noted in 2 cases (18.2 %). Skin edema was identified in only in 1 case (0.09 %). There was no arrhythmia. Tiny PFC could also be depicted using HDlive Silhouette. First-trimester fetal ultrasound scans at 11 – 13+6 weeks showed no abnormal findings. PFCs resolved until 13 weeks of gestation (Mean: 12 weeks, SD: ± 1.2). All PFC pregnancies resulted in healthy neonates. The incidence of tiny PFCs was relatively high in early pregnancy. HDlive Silhouette can depict tiny PFCs of the embryo. Tiny PFCs in early gestation are transient, benign findings in utero. [ABSTRACT FROM AUTHOR]

To explore the association between T. gondii and autoimmune rheumatic diseases (ARDs). This study involved 82 patients with ARDs: 44 rheumatoid arthritis (RA), 28 systemic lupus erythematosus (SLE), and 10 systemic sclerosis (SSc) and 61 age- and sex-matched controls. Sociodemographic, clinical, and laboratory data were collected, and disease activity was assessed. Exposure to toxoplasmosis risk factors was investigated. Serological tests for anti- Toxoplasma IgM and IgG antibodies were assessed using ELISA. In SLE patients, a significant difference of T. gondii IgM versus controls was detected (P =.03). In RA and SLE patients, T. gondii IgG showed a significant difference versus controls (34 (77.3%) P =.001 and 18 (64.3%) P =.03, respectively). There was no significant difference in SSc versus controls. Fetal congenital anomalies displayed a significant difference in IgM seropositive compared to seronegative patients (P =.04). Cat exposure showed a significant difference between IgM and IgG seropositive versus seronegative patients (12 (80.0%) P =.02 and 34 (59.6) P =.04, respectively). There was no significant difference in seropositive patients regarding history of abortion, neuro-psychiatric manifestations, disease activity parameters (ESR, CRP), or different regimens of medications. Toxoplasma IgM seropositivity is associated with SLE patients. T. gondii IgG seropositivity is associated with both RA and SLE patients. However, Toxoplasma seropositivity had no association with SSc patients. An association between fetal congenital anomalies and IgM seropositivity was demonstrated. A linkage between cat exposure as a risk factor and toxoplasmosis was suggested among ARD patiants. Exploration of impact of toxoplasmosis on ARDs is a necessity through randomized controlled trials. [ABSTRACT FROM AUTHOR]