Fetal Prognosis Research Articles

Perinatal Outcomes of Intrauterine Interventions for Fetal Sacrococcygeal Teratoma Based on Different Surgical Techniques-A Systematic Review.

Background: This study aims to evaluate the outcomes of fetal sacrococcygeal teratoma (SCT) submitted to prenatal interventions. Methods: We performed a systematic literature review of fetal SCT patients and compared the outcomes between open fetal surgery and percutaneous intervention. In addition, we also compared the results of SCT fetuses who did not undergo any surgical intervention (NI). Results: We identified 16 cases of open fetal surgery (OS), 48 cases of percutaneous fetal intervention (PI), and 93 NI patients. The survival rate was 56.2% in OS, 45.8% in PI (p = 0.568), and 71.0% in NI patients. The gestational age at delivery was earlier in cases where there was no survival compared to cases where the fetuses did survive across all evaluated cohorts (OS: p = 0.033, PI: p < 0.001, NI: p < 0.001). The gestational weeks at delivery in OS and PI fetuses were more similar; however, OS tended to be performed later on in pregnancy, and the affected fetuses had more severe presented findings. In our evaluation, we determined that the presence of fetal hydrops and cardiac failure had no significant impact on survival in SCT cases. In NI patients, polyhydramnios was much higher in fetuses who did not survive compared to their surviving cohorts (p < 0.001). Conclusions: In conclusion, gestational age at delivery can affect the short-term prognosis of fetuses affected with sacrococcygeal teratomas. Regardless of the mode of delivery or the necessity for intervention during the fetal period, monitoring for complications, including polyhydramnios, can prevent premature delivery.

The status and influencing factors of abnormal fetal pregnancy outcomes in 265 cases in China: a retrospective study.

With the advancement of prenatal diagnosis technology, the detection rate of fetal abnormalities continues to increase, imposing a significant burden on both society and families. A retrospective analysis of essential information about pregnant women, such as their pregnancy history and delivery details, is crucial for understanding the primary factors that influence pregnancy outcomes in women with fetal abnormalities. This analysis is of great significance for improving the level of pregnancy management and outcomes in pregnant women with fetal abnormalities. To retrospectively analyze the pregnancy outcomes of women with fetal abnormalities and explore the factors that influence these outcomes. Pregnant women's pregnancy outcomes were collected from the medical information system and through telephone follow-ups. The chi-square test and logistic regression were used to analyze the factors influencing pregnancy outcomes. Among 265 pregnant women diagnosed with fetal abnormalities, 190 chose to continue the pregnancy, while 75 chose to terminate it. Pregnant women with multiple fetal abnormalities (OR = 3.774, 95% CI [1.640-8.683]) were more likely to choose termination of pregnancy (TOP), and pregnant women who were advised to terminate their pregnancy or make a careful choice were more likely to terminate the pregnancy (OR = 41.113, 95% CI [11.028-153.267]). The number of organs involved in fetal abnormalities and treatment recommendations were identified as the primary factors influencing pregnancy outcomes. Improving awareness of maternal health care during pregnancy, early pregnancy screening technology, and a multidisciplinary diagnosis and treatment approach are of great significance in assisting pregnant women in making informed decisions and improving fetal prognosis.

Echocardiographic findings and pregnancy outcomes for fetuses with complete closure of the ductus arteriosus.

We aimed to analyze the echocardiographic characteristics and pregnancy outcomes for fetuses with premature complete closure of the fetal ductus arteriosus. A retrospective analysis was performed for eight cases of premature ductus arteriosus closure diagnosed by prenatal ultrasonography in the Hunan Maternal and Child Health Hospital from July 2019 to August 2022, and the characteristics of fetal echocardiography and pregnancy outcomes of the eight cases were analyzed and summarized. In all cases, the intima of the ductus arteriosus was thickened and occluded, the ductus arteriosus could be seen with slightly hyperechogenic, and no blood flow signal was found in the ductus arteriosus by Doppler ultrasonography. The right heart was enlarged in seven cases, and the whole heart was enlarged in one case. Tricuspid valve regurgitation was observed to different degrees, of which seven cases were severe and one case was moderate. The pulmonary arteries of eight patients had varying degrees of widening. All eight cases were delivered by cesarean section, and one newborn died after follow-up. The prognosis of the other newborns was good. The parameters of prenatal echocardiography are helpful for the prognosis of fetuses with premature closure of the ductus arteriosus. Early prenatal detection, close observation, and clinical guidance can be used to select the right time of delivery.

Prenatal ultrasound findings and clinical outcomes of uniparental disomy: a retrospective study

BackgroundUniparental disomy is the inheritance of a homologous chromosome pair or part of homologous chromosomes from only one parent. However, the clinical significance of uniparental disomy and the difference among the prognosis of involvement of different chromosomes remain unclear.ObjectiveTo assess the associated prenatal ultrasound presentations and clinical outcomes of uniparental disomy on different chromosomes and to analyze the relationship between prenatal ultrasound markers and clinical outcomes.Study designWe retrospectively analyzed data from fetuses with uniparental disomy diagnosed using chromosome microarray analysis with the Affymetrix CytoScan HD array at our institution between January 2013 and September 2022. The relationship between prenatal ultrasound findings, the involved chromosome(s), and clinical outcomes was evaluated.ResultsDuring the study period, 36 fetuses with uniparental disomy were diagnosed, and two cases were excluded for non-available postnatal data. Finally, 34 fetuses were included in our study, of which 30 (88.2%) had uniparental disomy occurring on a single chromosome, while four (11.8%) were identified with uniparental disomy on different chromosomes. The most frequently involved chromosomes were chromosomes 16, X and 2, which presented in 8 (23.5%), 5 (14.7%) and 4 (11.8%), respectively. Prenatal ultrasound abnormalities were detected in 21 fetuses, with the most common category being multiple abnormalities (12 (57.1%)). Fetal growth restriction was identified in 14 (41.2%) fetuses, all of which coexisted with other abnormal findings. The rate of adverse perinatal outcomes in patients with uniparental disomy and fetal abnormalities was significantly higher than those without abnormalities (76.2% versus 15.4%, P = 0.002). The incidence of fetal or neonatal death was significantly higher in fetuses with fetal growth restriction than those without (85.7% versus 30.0%, P = 0.004).ConclusionsThe prognosis of fetuses with uniparental disomy combined with fetal abnormalities, especially fetal growth restriction, was much poorer than those without.

Clinical and Paraclinical Features in Pregnancies Associated With Renal Impairment Due to Hypertensive Complications.

Background An association between renal impairment and hypertensive complications occurring during pregnancy has been shown in a limited number of studies. As a consequence of a lack of clear criteria for diagnostic certainty, acute renal failure during pregnancy is a challenging pathology to diagnose, mainly due to the physiological reduction of nitrogen retention parameters. In light of the fact that renal injury is associated with a poor maternal and fetal prognosis, this study aims to determine the maternal demographic features and the cut-off of serum creatinine that can lead to a heightened risk of prematurity, stillbirth, intrauterine growth restriction, or the necessity of neonatal intensive care. Methods We performed a study that included a cohort of 45 pregnant women with acute renal injury who delivered in the Department of Obstetrics and Gynecology of the University Emergency Hospital in Bucharest between January 1, 2017, and December 31, 2022, a cohort of 45 pregnant women with a value of serum creatinine between 0.8 and 1 mg/dL, and a cohort of 45 pregnant women, selected at random, with a value of serum creatinine under 0.8 mg/dL, who delivered in the same period in the aforementioned unit. The analysis included neonatal outcomes (preterm birth, intrauterine growth restriction, stillbirth, Apgar score calculated at one minute, the need for neonatal intensive care), maternal demographic features, medical and obstetrical history, and paraclinical parameters. Results The incidence of acute renal injury was 0.33% for the entire cohort of patients who gave birth in our hospital. Out of that lot, 65.21% of the cases of acute renal impairment associated with pregnancy were caused by hypertensive complications. The mean age of patients with acute kidney injury (AKI) was 29.4 ± 6.66, preponderantly primiparous. The majority of the neonates from patients with AKI (62.22%) were born with a birth weight under 2.500 grams. Preterm deliveries were preponderant (66.66%) in patients with AKI, while in the control group, the incidence of preterm deliveries was 48.88%. Stillbirth in the AKI group had an incidence of 13.33%, while in the control group, there were none. Due to these neonatal complications, most of the newborns in the AKI group needed neonatal intensive care. An important percentage of the patients who developed AKI (40%) did not benefit from proper medical care during pregnancy or before admission to our unit. The cutoff of 1.09 mg/dL of serum creatinine level was established following receiver operating characteristic curve analysis. Conclusion AKI during pregnancy is associated with hypertensive disorders, low birth weight, and preterm deliveries.

Collateral Damage in the Placenta during Viral Infection in Pregnancy: A Possible Mechanism for Vertical Transmission and an Adverse Pregnancy Outcome.

In mammals, the placenta is a connection between a mother and a new developing organism. This tissue has a protective function against some microorganisms, transports nutrients, and exchanges gases and excretory substances between the mother and the fetus. Placental tissue is mainly composed of chorionic villi functional units called trophoblasts (cytotrophoblasts, the syncytiotrophoblast, and extravillous trophoblasts). However, some viruses have developed mechanisms that help them invade the placenta, causing various conditions such as necrosis, poor perfusion, and membrane rupture which, in turn, can impact the development of the fetus and put the mother's health at risk. In this study, we collected the most relevant information about viral infection during pregnancy which can affect both the mother and the fetus, leading to an increase in the probability of vertical transmission. Knowing these mechanisms could be relevant for new research in the maternal-fetal context and may provide options for new therapeutic targets and biomarkers in fetal prognosis.

Obstetric Evacuations Received At the "Major Moussa Diakite" Referral Health Centre in Kati, Republic of Mali

The organisation of the evacuation referral system is an important strategy for reducing maternal and perinatal mortality in Mali. Objective: To study obstetric evacuations received in the gynaecology and obstetrics department of the "Major Moussa DIAKITE" referral health centre in Kati. Method: We conducted a cross-sectional, descriptive and analytical study. Data were collected retrospectively and prospectively over a 12-month period (from 1 January to 31 December 2020). Sampling was exhaustive and included all cases of obstetric evacuation received and managed on site during the study period. Results: Out of a total of 3050 deliveries, we received and managed 352 cases of obstetric evacuation, representing a frequency of 11.5%. The average age of the patients was 25 years, with extremes of 15 and 44 years, although the 20-34 age group was dominant, accounting for 73.6% of cases. The majority of evacuees were housewives (86.4%), married (92%), nulliparous and primiparous (52%). Dystocic labour was the most common reason for evacuation (51.1%), followed by ante-partum haemorrhage (13.4%). Nearly nine out of ten women evacuated came from Community Health Centres (89.8%) and the most common means of evacuation was by ambulance (52.1%). The average time from admission to the start of care was 26.5 minutes, with extremes of 3 and 50 minutes. Delivery by the vaginal route was carried out in almost eight out of ten cases (79%). Newborns were resuscitated alive (7.9%); stillbirths were fresh (3.7%) and stillbirths were macerated (06%). We recorded 2 cases of maternal death (0.6%) and the causes of maternal death were haemorrhage due to uterine rupture and eclampsia. Conclusion: The improved organisation of the evacuation referral system in our facility has improved the maternal and, above all, foetal prognosis of obstetric evacuations, but more needs to be done.

Analysis of X chromosome inactivation and prenatal diagnosis for a Chinese pedigree with loss of heterozygosity at Xq22.1q22.3

To explore the correlation between skewed X chromosome inactivation (XCI) and clinical phenotype of a Chinese pedigree with loss of heterozygosity at Xq22.1q22.3. A pedigree diagnosed at Taizhou Hospital on November 10, 2021 was selected as the study subject. G-banded chromosomal karyotyping and copy number variation sequencing (CNV-seq) were carried out to analyze the amniotic fluid and peripheral blood samples from the couple. XCI was detected by PCR amplification of CAG repeats in exon 1 of androgen receptor gene before and after the digestion with methylation-sensitive restriction enzyme Hpa II. Correlation between the genotype and clinical phenotype was analyzed. The karyotypes of the pregnant woman and the fetus were both determined as 46,X,del(X)(q22), and the result of CNV-seq was seq[hg19]del(X)(q22.1q22.3) chrX: g.10046000_105740000del, suggesting that both had harbored a 5.28 Mb deletion on the X chromosome. No obvious abnormality was found in the husband. XCI analysis showed that the activity ratio of the two X chromosomes of the pregnant woman and her fetus was 0 : 100. The X chromosome harboring the q22.1q22.3 deletion was completely inactivated, and the inactivated X chromosome of the fetus was derived from its mother. The fetus has harbored a maternally derived inactivated X chromosome del(X)(q22) , and its phenotype is closely associated with the activity of the abnormal X chromosome. Pedigree XCI analysis combined with the clinical phenotype has facilitated recognition of the maternal phenotype and prognosis of female fetus with loss of heterozygosity at Xq22.1q22.3.

Contribution of fetal blood sampling to determining the prognosis of congenital cytomegalovirus infections: a case-cohort study in Switzerland

Cytomegalovirus is responsible for the most common congenital infection, affecting 0.5% to 1.0% of live births in Europe. Congenital cytomegalovirus infection can be diagnosed during pregnancy by viral DNA amplification in the amniotic fluid, but the prognosis of fetuses without severe brain abnormalities remains difficult to establish on the basis of prenatal imaging alone. To identify predictors of moderate to severe symptomatic cytomegalovirus infection among fetal blood parameters and to propose an algorithm on the basis of these parameters and on prenatal imaging that would provide the best positive and negative predictive values. Fetal blood sampling at 21-28 weeks gestation was performed in fetuses with congenital cytomegalovirus infection confirmed by amniocentesis after maternal infection in the first-trimester or periconceptional period. We compared the levels of hemoglobin, thrombocytes, γ-glutamyl transpeptidase, aspartate aminotransferase, alanine aminotransferase, β2-microglobulin, immunoglobulins G and M, and cytomegalovirus DNA viral loads in amniotic fluid and fetal blood between those with moderate to severe symptomatic infection and those with asymptomatic to mild infection (median follow-up of 36 months for live births). Among 58 fetuses included, 25 (43%) had a moderate to severe symptomatic infection: 16 with severe cerebral abnormalities, 5 with multiple signs or symptoms at birth, 2 with bilateral sensorineural hearing loss, and 2 with neurodevelopmental delay. The values of thrombocytes, aspartate aminotransferase, β2 microglobulin, Immunoglobulin M, and cytomegalovirus viral loads differed significantly between fetuses with moderate to severe symptomatic infection and those with asymptomatic to mild infection. The optimal strategy to predict moderate to severe symptomatic infection was to first perform fetal brain imaging, followed by fetal blood sampling with the following cutoffs: thrombocytes <120,000/mL, viremia ≥5 log10/mL, and β2 microglobulin ≥12 mg/L). This recursive algorithm had a negative predictive value of 100% for moderately to severely symptomatic infection. The combination of thrombocytes, β2-microglobulin, and cytomegalovirus viral load in fetal blood can be used for prognosis determination, particularly in cytomegalovirus-infected fetuses without severe brain abnormalities at the time of prenatal diagnosis. Future studies should evaluate whether these parameters remain useful in infected fetuses who have been treated with valacyclovir before fetal blood sampling.

Prenatal diagnosis and clinical management of cardiac rhabdomyoma: a single-center study.

The study aims to assess the ultrasonic features of fetal cardiac rhabdomyoma (CR), track the perinatal outcome and postnatal disease progression, investigate the clinical utility of ultrasound, MRI and tuberous sclerosis complex (TSC) gene analysis in CR evaluation, and offer evidence for determing of fetal CR prognosis. We conducted a retrospective analysis of prenatal ultrasound-diagnosed fetal CR cases in our hospital from June 2011 to June 2022, tracked the perinatal outcomes, regularly followed live infants to analyze cardiac lesion changes and disease progression, and compared the sensitivities of ultrasound, MRI and their combination in the detecting of intracranial sclerosing nodules. Our study included 54 fetuses with CR: 32 pregnancies were terminated, 22 were delivered, 35 were diagnosed with TSC, 13 had simple CR without TSC, and in 6 cases, remained unclear whether TSC accompanied the CR due to insufficient evidence. 45 fetuses (83.3%) had multiple lesions, while 9 fetuses (16.7%) presented with a single lesion. Twelve cases had intracardiac complications, all associated with multiple lesions, and these cases exhibited larger maximum tumor diameters than the non-complicated group. Multiple intracardiac lesions were more prevalent in the TSC group than in the simple CR group. However, there was no significant difference in maximum tumor diameter between the two groups. Among 30 fetuses who underwent fetal brain MRI, 23 were eventually diagnosed with TSC, with 11 fetuses showing intracranial sclerosis nodules by ultrasound and 15 by MRI, and the diagnostic consistency was moderate (k = 0.60). Twenty-two fetuses were born and followed up for 6-36 months. CR lesions diminished or disappeared in 18 infants (81.8%), while they remained unchanged in 4 infants (18.2%). Ten out of 12 (83.3%) surviving children diagnosed with TSC developed epilepsy, and 7 (58.3%) had neurodevelopmental dysfunction. The majority of CR cases involve multiple lesions, which are a primary risk factor for TSC. Through prenatal ultrasound examination is crucial for assessing fetal CR prognosis. Although ultrasound combined with MRI can detect intracranial sclerosis nodules in TSC fetuses, its sensitivity is limited. TSC gene sequencing is an essential diagnostic method. Simple CR cases without TSC generally have a favorable prognosis.

Scrub typhus in pregnancy - A threat to maternal and fetal outcome.

Scrub typhus is an acute febrile illness transmitted by the bite of trombiculid mite in the larval stage. Scrub typhus is rare in pregnancy and there is paucity of data on the clinical outcome of scrub typhus during pregnancy. We present five cases of scrub typhus complicating pregnancy who were admitted in the obstetric ward at AIIMS Rishikesh, India during the antenatal period for management. The first patient presented at term pregnancy in semiconscious state while the rest were preterm between 31 and 34 weeks period of gestation. The age at presentation was 21-31 years. All five had febrile illness of >5 days' duration along with cough. Fever investigations like blood culture, peripheral smear for malarial parasite, dengue serology, widal test, and urine culture were negative. Serology for scrub typhus was positive in all. Once diagnosis was confirmed for scrub typhus, patients were given the drug of choice azithromycin 500 mg twice daily for five days. Scrub typhus complicating pregnancy led to maternal mortality in one patient. It resulted in one preterm delivery, one intrauterine fetal death, and rest three were delivered at term with good perinatal outcome. Scrub typhus is common in endemic areas like Uttarakhand, India. It has a poor fetal outcome. If diagnosed early and treatment started, maternal and fetal prognosis can be favorable. As large case series are unavailable in literature, it is difficult to predict the course of disease which at times may be fulminant.

Prenatal Diagnosis and Postnatal Outcomes of Persistent Left Superior Vena Cava Associated With Mild Narrow Aorta: A Cohort Study.

To explore prenatal ultrasonic features and prognosis of the persistent left superior vena cava (PLSVC) complicated with mild narrow aorta. A retrospective study was conducted involving 1348 fetuses diagnosed with PLSVC prenatally between January 2016 and December 2019. Forty-five fetuses with PLSVC associated with mild narrow aorta were selected from the cohort as the study group and 79 fetuses with isolated PLSCV were recruited randomly as the control group. All clinical and ultrasound results, including images and parameters of cardiac structures, were reviewed retrospectively. General conditions, ultrasound (US) measurements, and fetal prognosis were compared between the groups. Aorta valve diameter (AOD), Z-score of aorta valve (AODz-score), aortic isthmus diameter (AOIsD), and pulmonary diameter (PAD)/AOD were significantly different in study group than control group no matter in the second or third trimester. Thirty-eight fetuses in study group were born with favorable outcomes after long-term follow-up. A total of 13.16% (5/38) remain mild narrow aorta and 3 of them showed smaller left ventricle after 3 years follow up. Prenatal AODz-score in infants remains mild narrow aorta after 2 years aged was higher than ones' aorta return to normal (P = .01), especially when AODz-score >1.725. Moreover, when prenatal ratio of AOIsD/left subclavian artery was <1.12, it was more likely that the aorta would remain mildly narrow at age 2. Fetuses diagnosed with PLSVC with mild narrow aorta had favorable prognosis. AODz-score and AOIsD/left subclavian artery may be two predictors that reveal the risk of a mildly narrowed aorta remaining after birth.

Prenatal diagnosis of right aortic arch: associated anomalies and fetal prognosis according to different subtypes.

Right aortic arch (RAA) is a rare anomaly with an incidence of 0.1 % in the adult population and low-risk fetuses. Our aim in this study was to evaluate associated anomalies and conditions according to subtypes. This was a retrospective study examining consecutive pregnancies diagnosed with RAA in our hospital between 2018 and 2022. Fetuses with RAA were divided into three groups, RAA with right-sided ductus arteriosus (RAA-RDA), RAA with left-sided ductus arteriosus (RAA-LDA), and RAA with a double aortic arch (RAA-DAA). A total of 81 fetuses were diagnosed as having RAA during the study period. The rate of cardiac anomalies (82.8 %) in the RAA-RDA group was higher than in the RAA-LDA (17.6 %) and RAA-DAA (22.2 %) groups (p<0.001). No statistically significant difference was found between the groups in terms of maternal age, diagnosis week, pregnancy outcome, extracardiac anomalies, and genetic anomalies. Three (8 %) of 36 fetuses with isolated RAA who resulted in live birth developed symptoms related to the vascular ring, and one (2.7 %) newborn with RAA-DAA underwent surgery. The incidence of cardiac anomalies is high in fetuses with RAA-RDA. Ultrasound examinations should be performed for cardiac anomalies and additional structural anomalies. Vascular ring formation is a rare but important complication due to compression risk to the trachea and esophagus.

Splenic artery aneurysm rupture in a pregnant woman with hepatosplenic schistosomiasis: case report and literature review

BackgroundPregnancy is not uncommon in patients with non-cirrhotic portal hypertension. Rupture of a splenic artery aneurysm remains a rare complication, associated with a very poor maternal–fetal prognosis. Our aim is to report a case of ruptured splenic aneurysm and to show the maternal–fetal over-risks during the association of pregnancy and portal hypertension, even in non-cirrhotic patients.Case presentationWe report a case of a 34-year-old woman, pregnant at 24 weeks gestation, with non-cirrhotic portal hypertension due to hepatic schistosomiasis. She was hospitalized for variceal bleeding. Patient had undergone endoscopic variceal band ligation and no bleeding recurrence. An unexplained hypovolemic shock appeared during the hospitalization with the occurrence of an in utero fetal death. The fetus was delivered by vaginal delivery. Abdominal CT scan angiogram showed a splenic artery aneurysm rupture. The patient underwent an emergency laparotomy with ligation of the splenic artery associated with splenectomy. Postoperative course was simple. Management of portal hypertension was continued at discharge (diuretic, beta-blockers, and esophageal varices ligation).ConclusionThe association of pregnancy and portal hypertension remains a serious situation with a high risk of maternal–fetal complications. Splenic artery aneurysm rupture is one of the rare complications of this association with a very poor maternal–fetal prognosis. Open repair is the surgical treatment of choice with a non-negligible morbi-mortality.

Study of Macrosomic Deliveries in the Gynaecology and Obstetrics Department of the "Major Moussa Diakite" Reference Health Center in Kati, Koulikoro, Republic of Mali

The delivery of a macrosomic baby remains a concern for obstetricians and neonatologists, especially when the delivery is vaginal, because of the risk of maternal and perinatal complications. The aim of this article is to study macrosomic deliveries in the gynaecology and obstetrics department of the Kati reference health center. Method: This was a prospective, cross-sectional study which ran from 1 November 2020 to 31 October 2022, a period of 24 months. It concerned all deliveries in which the birth weight of the newborn was greater than or equal to 4000 grams, excluding cases of foetal malformations. Results: Out of a total of 4676 deliveries, we recorded 127 cases of macrosomia, a frequency of 2.7%. The average age of the women was 28.5 years, ranging from 16 to 47 years. The main risk factors identified were high multiparity (29.1%), maternal obesity (28.4%), overdue delivery (19.7%), previous delivery with the presentation was cephalic in 93.7% of cases, and delivery was by vaginal route in 63.8% of cases, compared with caesarean section in 36.2%. Maternal complications were dominated by perineal tears in thirteen cases (10.2%), cervical tears in two cases (1.6%), endometritis in two cases (1.6%), vaginal tears in one case (0.8) and haemorrhage during delivery in one case (0.8%). However, no complications were found in 108 out of 127 deliveries (85%). The Apgar score was less than eight at 1 minute in 12.6% of newborns. We observed serosanguineous hump (8.7%), brachial plexus paralysis (4.7%), clavicle fracture (1.6%) and early neonatal death (2.4%) due to neonatal distress. Conclusion: Macrosomic delivery carries very real risks, and the indications for vaginal delivery must be restricted in order to improve maternal and foetal prognosis.

Prenatal ultrasound diagnosis and prognosis of fetus with isolated filar cyst: a retrospective analysis.

This study aimed to investigate the prenatal ultrasonographic diagnosis and prognosis of fetuses with isolated filar cysts (FCs). The ultrasonographic features, reasons for missed diagnosis, and prognosis of eight isolated FCs diagnosed using ultrasound were analyzed retrospectively through follow-up. Eight isolated FCs showed round or fusiform cystic anechoic areas at the end of the conus medullaris. Among them, six cases were prenatally diagnosed and the other two cases were diagnosed after birth. Of the six cases diagnosed prenatally, four (66.7%) disappeared during pregnancy, and the shortest time to disappearance was 1 month after the first diagnosis. All patients were followed up without any clinical symptoms or functional abnormalities. Isolated FCs may exhibit physiological variations that disappear spontaneously during pregnancy and usually have no clinical symptoms. They are usually benign and have a good prognosis. Ultrasonography is helpful for the diagnosis and follow-up of FCs.

Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases.

Generally, the translocation of SRY onto one of the X chromosomes leads to 46, XX testicular disorders of sex development, a relatively rare condition characterized by the presence of testicular tissue with a 46, XX karyotype. Three prenatal cases of unbalanced X; Y translocation carrying SRY were identified in this study. Structural variants were confirmed using single nucleotide polymorphism array and chromosomal karyotyping. X chromosome inactivation (XCI) was also analyzed. Detailed clinical features of the three cases were collected. We identified two fetuses with maternal inherited unbalanced X; Y translocations carrying SRY and skewed XCI presenting with normal female external genitalia, and one fetus with de novo 46, XX (SRY+) and random XCI manifested male phenotypic external genitalia. This study reports that cases with unbalanced X; Y translocations carrying SRY manifested a normal female external genitalia in a prenatal setting. We speculate that the skewed XCI mediates the silence of SRY. In addition, our study emphasizes that combining clinical findings with pedigree analysis is critical for estimating the prognosis of fetuses with sex chromosome abnormalities.

Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis and pregnancy outcomes of fetuses with polyhydramnios

Objectives To explore the prenatal clinical utility of chromosome microarray analysis (CMA) for polyhydramnios and evaluate the short and long-term prognosis of fetuses with polyhydramnios. Methods A total of 600 singleton pregnancies with persistent polyhydramnios from 2014 to 2020 were retrospectively enrolled in this study. All cases received amniocentesis and were subjected to CMA results. All cases were categorized into two groups: isolated polyhydramnios and non-isolated polyhydramnios [with soft marker(s) or with sonographic structural anomalies]. All fetuses were followed up from 6 months to five years after amniocentesis to acquire short and long-term prognosis. Results The detection rates of either aneuploidy or pathogenic copy number variants in fetuses with non-isolated polyhydramnios were significantly higher than those with isolated polyhydramnios (5.0 vs. 1.5%, p = 0.0243; 3.6 vs. 0.8%, p = 0.0288). The detection rate of total chromosomal abnormalities in the structural abnormality group was significantly higher than that in the isolated group (10.0 vs. 2.3%, p = 0.0003). In the CMA-negative cases, the incidence of termination of pregnancy, neonatal and childhood death, and non-neurodevelopmental disorders in fetuses combined with structural anomalies was significantly higher than that in fetuses with isolated polyhydramnios (p < 0.05). We did not observe any difference in the prognosis between the isolated group and the combined group of ultrasound soft markers. In addition, the risk of postnatal neurodevelopmental disorders was also consistent among the three groups (1.6 vs. 1.3 vs. 1.8%). Conclusion For low-risk pregnancies, invasive prenatal diagnosis of isolated polyhydramnios might be unnecessary. CMA should be considered for fetuses with structural anomalies. In CMA-negative cases, the prognosis of fetuses with isolated polyhydramnios was good, and polyhydramnios itself did not increase the risk of postnatal neurological development disorders. The worse prognosis mainly depends on the combination of polyhydramnios with structural abnormalities.

Prenatal Diagnosis of Fetal Micrognathia at 11-20 Weeks of Gestation: A Prospective Observation Study.

To prospectively evaluate the prognosis of fetuses diagnosed with micrognathia using prenatal ultrasound screening. Between January 2019 and December 2022, a normal range of IFA to evaluate the facial profile in fetuses with micrognathia in a Chinese population between 11 and 20 gestational weeks was established, and the pregnancy outcomes of fetal micrognathia were described. The medical records of these pregnancies were collected, including family history, maternal demographics, sonographic findings, genetic testing results, and pregnancy outcomes. Ultrasound identified 25 patients with fetal micrognathia, with a mean IFA value of 43.6°. All cases of isolated fetal micrognathia in the initial scans were non-isolated in the following scans. A total of 78.9% (15/19) cases had a genetic cause confirmed, including 12 with chromosomal abnormalities and 3 with monogenic disorders. Monogenic disorders were all known causes of micrognathia, including two cases of campomelic dysplasia affected by SOX9 mutations and one case of mandibulofacial dysostosis with an EFTUD2 mutation. In the end, 19 cases were terminated, 1 live birth was diagnosed as Pierre Robin syndrome, and 5 cases were lost to follow-up. IFA is a useful indicator and three-dimensional ultrasound is a significant support technique for fetal micrognathia prenatal diagnosis. Repeat ultrasound monitoring and genetic testing are crucial, with CMA recommended and Whole exome sequencing performed when normal arrays are reported. Isolated fetal micrognathia may be an early manifestation of monogenic disorders.

Retrospective study of 60 cases of uterine rupture at the Maternity Center of Monastir, Tunisia

Uterine rupture is a life-threatening obstetric complication. The purpose of this study was to investigate the epidemiological features, maternal and foetal prognosis and different treatment options for uterine rupture in healthy and scarred uteri. We conducted a retrospective monocentric descriptive and analytical study of 60 cases of uterine rupture collected in the Department of Gynaecology-Obstetrics of the Center of Maternity and Neonatology, Monastir, from 2017 to 2021. Patients were classified according to the presence or absence of a uterine scar. Sixty patients were enrolled in the study. The majority of cases of rupture occurred in patients with scarred uterus (n=55). The most common clinical sign was abnormal foetal heart rate. No maternal deaths were recorded and perinatal mortality rate was 11%. Mean BMI, fetal macrosomia rate and mean parity were significantly higher in the healthy uterus group than in the scarred uterus group (p=0.033, 0.018, and 0.013, respectively). The maternal complications studied (post-partum haemorrhage, hysterectomy, blood transfusion, prolonged hospitalisation) were significantly more frequent in patients with unscarred uterine rupture (p=0.039; p=0.032; p=0.009; p=0.025 respectively). Uterine rupture is a life-threatening obstetrical event for the foetus and the mother. Fetal heart rate abnormality is the most common sign associated with uterine rupture. Management is based on conservative treatment in most cases. Patients with scarred uterus have a better prognosis.