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Ultrasound image: A. Anencephaly; B. Encephalocele. Notes: Cranial dysraphisms usually are more severe than spinal types and could be detected at early gestational age. A: A case of anencephaly presented without parts of the brain and skull. B: The arrow indicates the encephalocele, it is a sac-like protrusions of the brain and the membranes that cover it through openings in the skull.
Source publication
Objective:
To modify the current neural tube defect (NTD) classification for fetal medicine specialists, and to investigate the impact of prenatal ultrasound conus medullaris position screening on the detection rate of closed spinal dysraphism and pregnancy outcomes.
Materials and methods:
The clinical data of 112 patients prenatally diagnosed w...
Context in source publication
Citations
... This defect introduces the lower back and sacral areas of spina bi da, which is classi ed as closed type (2,3,(7)(8)(9). Stillbirth, a neonatal death, and a post-neonatal death is the most common result of these disorders, which can be diagnosed by ultrasound imaging or screening of the alpha-fetoprotein level of the mother's serum (10,11). What has attracted the attention of the scienti c community is the prevention and prognosis of these disorders (12)(13)(14), which implies the need to know the risk factors of its occurrence. ...
Background
Maternal smoking is a potent teratogen among congenital malformations, however its role in the development of Neural Tube Defects (NTDs) is still unclear. In this systematic review, we intend to further investigate the interaction of smoking during pregnancy and the incidence of NTDs.
Method
This article was written according to PRISMA criteria from February 2015 and August 2022. After examining the four stages of PRISMA criteria, we selected clinical articles. These articles were selected from PubMed, Scopus and Google scholar (for results follow-up) databases. The words we searched in these databases include:
· Smoking
· Maternal smoking
· Neural tube defects
Results
Smoking was associated with an increase NTDs in the population of pregnant mothers and also among babies whose fathers smoked. The main side effects that were considered to be the cause of NTDs besides smoking were alcohol and BMI (18.5-24.9). Smoking also affects the level of folic acid as a substance with an essential role that affects the closure of the neural tube. folic acid available to infants changing along with the level of other blood elements such as zinc, that necessary prevent for NTDs condition.
Conclude
According to the results obtained from the available articles, parental smoking can be considered as one of the strong teratogens in the occurrence of NTDs. In order to reduce the prevalence of NTDs, we advise pregnant mothers and neonate’s fathers to quit smoking.
Background: Folic acid supplementation during the periconceptional period is critical in preventing neural tube defects (NTDs) in the developing fetus. In Pakistan, a profound lack of awareness is seen regarding preventable pregnancy-related illnesses and the consequential high maternal and fetal mortality and morbidity rates. However, data from the surveys in the region of Sindh lacks inquiries regarding the baseline characteristics of the surveyed participants. Therefore, this study endeavoured to address this gap. Methods: Between October 2022 and April 2023, a cross-sectional study was conducted at two major tertiary care hospitals in Hyderabad and Jamshoro, Pakistan. A total of 374 participants, chosen by non-probability consecutive sampling, comprised the sample size. The association of demographic variables and knowledge, attitude, and practice of consumption of folic acid during pregnancy was determined using the χ2 test. A p value of less than 0.5 was considered statistically significant. Results: The mean age of the participants was 26.4±5.7 years. A total of 199 (53.20%) participants were literate, compared to 175 (46.79%) participants who were illiterate. Literate women fared better than illiterate women in all the metrics with a p-value of <0.001 and a Pearson correlation coefficient (r) of >0.7. Moreover, folic acid was consumed by only 38% of pregnant women during the periconceptional period. Conclusions: A substantial lack of knowledge regarding folic acid was found in the surveyed sample, significantly more marked in the illiterate faction. Additionally, the practice was rather unsatisfactory. However, the attitude remained encouraging.
Objective
To evaluate the prenatal diagnosis of closed dysraphism (CD) and its correlation with postnatal findings and neonatal adverse outcomes.
Methods
A retrospective cohort study including pregnancies diagsnosed with fetal CD by prenatal ultrasound (US) and magnetic resonance imaging (MRI) at a single tertiary center between September 2011 and July 2021.
Results
CD was diagnosed prenatally and confirmed postnatally in 12 fetuses. The mean gestational age of prenatal imaging was 24.2 weeks, in 17% the head circumference was ≤fifth percentile and in 25% the cerebellar diameter was ≤fifth percentile. US findings included banana sign in 17%, and lemon sign in 33%. On MRI, posterior fossa anomalies were seen in 33% of cases, with hindbrain herniation below the foramen magnum in two cases. Mean clivus‐supraocciput angle (CSA) was 74°. Additional anomalies outside the CNS were observed in 50%. Abnormal foot position was demonstrated prenatally in 17%. Neurogenic bladder was present in 90% of patients after birth.
Conclusion
Arnold Chiari II malformation and impaired motor function can be present on prenatal imaging of fetuses with CD and may be associated with a specific type of CD. Prenatal distinction of CD can be challenging. Associated extra CNS anomalies are frequent and the rate of neurogenic urinary tract dysfunction is high.
Background
Congenital anomalies are responsible for approximately 20% of all neonatal deaths worldwide. Improvements in antenatal screening and diagnosis have significantly improved the prenatal detection of birth defects; however, these improvements have not translated into the improved neonatal prognosis of babies born with congenital anomalies.
Objectives
An attempt has been made to summarise the prenatal interventions, if available, the optimal route, mode and time of delivery and discuss the minimum delivery room preparations that should be made if expecting to deliver a fetus with a congenital anomaly.
Methods
The recent literature related to the perinatal management of the fetus with prenatally detected common congenital anomalies were searched in English peer-reviewed journals from the PubMed database, to work out an evidence-based approach for their management.
Results
Fetuses with prenatally detected congenital anomalies should be delivered at a tertiary care centre with facilities for neonatal surgery and paediatric intensive care if needed. There is no indication for preterm delivery in the majority of cases. Only a few congenital malformations, like high-risk sacrococcygeal teratoma, congenital lung masses with significant fetal compromise, fetal cerebral lesions or neural tube defects with Head circumference >40 cm or the biparietal diameter is ≥12 cm, gastroschisis with extracorporeal liver, or giant omphaloceles in the fetus warrant caesarean section as the primary mode of delivery.
Conclusion
The prognosis of a fetus with congenital anomalies can be significantly improved if planning for delivery, including the Place and Time of delivery, is done optimally. A multi-disciplinary team should be available for the fetus to optimize conditions right from when it is born.
Background; Neural tube defects, the commonest central nervous system congenital anomalies, are a heterogeneous group of malformations resulting from failure of normal neural tube closure. Aim and objectives; to assess the potential value of combined maternal serum alpha-fetoprotein and ultrasound markers at 11-13weeks of gestation in early screening for fetal neural tube defects in comparison to the standard second trimester screening of neural tube defects. Subjects and methods; This prospective study will be conducted at the Prenatal Diagnosis and Fetal Medicine Department – National Research Centre and Obstetrics and Gynecology Department in Kasr Al Ainy Teaching Hospital. Result; Number of patients with MSAFP ≥ 2.0 MoM in the study population was 50 (25%). Number of patients with MSAFP < 2.0 MoM in the study population was 150 (75%). Conclusion; Combined maternal serum alpha-fetoprotein and ultrasound markers at 11-13 weeks of gestation can be used as early screening for fetal neural tube defects as well as the standard second trimester screening of neural tube defects, the second trimester ultrasound is more sensitive than that of the first trimester for the diagnoses of neural tube defects.
