Early Diagnosis Of Fetal Anomalies Research Articles

Evaluating pregnancy termination decisions for fetal anomalies: a retrospective study in a tertiary referral center.

The aim of this study was to examine the factors that influence pregnancy termination due to fetal anomalies, regardless of gestational age, within the legal framework of Turkey. This retrospective study was conducted between January 2021 and July 2023 at a tertiary perinatology center to analyze patients undergoing pregnancy termination. The process involved multidisciplinary evaluations and informed consent, resulting in 326 pregnancy terminations, categorized by gestational timing. Of the 326 patients studied, 219 opted for terminations. Gestational week at diagnosis significantly influenced the decision to terminate, with fetal anomalies being the primary indication. Chromosomal abnormalities accounted for 15.9% of the cases, while structural anomalies and maternal disorders accounted for 84.1% and structural malformations accounted for 84.1% of the cases. Late terminations (≥23 weeks) accounted for 30% of cases and required complex procedures. The findings of this study indicate that maternal demographic factors have a limited impact on termination decisions. Early diagnosis of fetal anomalies is crucial for informed decision-making and emotional support, and the psychological consequences of late termination highlight the need for maternal support. Obstetricians play a vital role in facilitating early intervention. This study underscores the complex medical, ethical, and psychological aspects of pregnancy termination due to fetal anomalies. It emphasizes the importance of a holistic approach, considering medical, ethical, and psychological factors and the crucial role of healthcare professionals in supporting families during this challenging process.

Pregnancy and perinatal outcomes of early vs late selective termination in dichorionic twin pregnancy: systematic review and meta-analysis.

To evaluate outcomes of dichorionic twin pregnancies undergoing early vs late selective termination of pregnancy (ST). MEDLINE, EMBASE, CINAHL and the Web of Science databases were searched electronically up to March 2022. The primary outcome of this study was pregnancy loss prior to 24 weeks' gestation. The secondary outcomes included preterm birth (PTB) before 37, 34, and 32 weeks, preterm prelabor rupture of membranes (PPROM), gestational age (GA) at delivery, Cesarean delivery, mean birth weight, 5-min Apgar score < 7, overall neonatal morbidity and neonatal survival. Only prospective or retrospective studies reporting data on the outcome of early (before 18 weeks) vs late (at or after 18 weeks) ST in dichorionic twin pregnancies were considered suitable for inclusion. Quality assessment of the included studies was performed using the Newcastle-Ottawa scale for cohort studies. Random-effects head-to-head meta-analysis was used to analyze the data. Seven studies reporting on 649 dichorionic twin pregnancies were included in this systematic review. The risk of pregnancy loss prior to 24 weeks was significantly lower in dichorionic twin pregnancies undergoing early compared with late ST (1% vs 8%; odds ratio (OR), 0.25 (95% CI, 0.10-0.65); P = 0.004). The risk of PTB was significantly lower in dichorionic twin pregnancies undergoing early compared with late ST when considering PTB before 37 weeks (19% vs 45%; OR, 0.36 (95% CI, 0.23-0.57); P < 0.00001), before 34 weeks (4% vs 19%; OR, 0.24 (95% CI, 0.11-0.54); P = 0.0005) and before 32 weeks (4% vs 20%; OR, 0.21 (95% CI, 0.05-0.85); P = 0.03). The mean birth weight was significantly greater in the early-ST group (mean difference (MD), 392.2 g (95% CI, 59.1-726.7 g); P = 0.02), as was the mean GA at delivery (MD, 2.47 weeks (95% CI, 0.04-4.91 weeks); P = 0.049). There was no significant difference between dichorionic twin pregnancies undergoing early compared with late ST in terms of PPROM (P = 0.27), Cesarean delivery (P = 0.38), 5-min Apgar score < 7 (P = 0.35) and neonatal survival of the non-reduced twin (P = 0.54). The risk of pregnancy loss prior to 24 weeks and the rate of PTB before 37, 34 and 32 weeks were significantly higher in dichorionic twin pregnancies undergoing late vs early ST, thus highlighting the importance of early diagnosis of fetal anomalies in twin pregnancies. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

The analysis of pregnancies terminated before and after the limit of viability: A medicolegal view

PurposeIn the present study, the purpose was to determine the indications of pregnancy termination procedures that are performed before and after the limit of viability (between 10 and 22 weeks) in a tertiary center and to investigate the characteristics of the cases in which fetocide procedure was offered after the limit of viability (22 weeks and later). It also aimed to discuss the legal deadline for the fetocide procedure and legal aspect of pregnancy termination. Material and methodThe present study was conducted as a result of the retrospective examination of 198 cases who underwent pregnancy termination after the 10th week of pregnancy (the legal limit for voluntary termination of pregnancy in our country) in our clinic and met the study criteria. The cases were divided into two main groups as Early Termination (10–22 weeks) and Late Termination (22 weeks and later). The characteristics of these groups (i.e. reason for termination, termination week) and the characteristics of the cases in which fetocide procedure was performed and the cases that were not (i.e. termination week, reasons for termination) were compared. ResultsA total of 171 (86%) cases were under 22 weeks and 27 (14%) were 22 weeks or more. In the cases terminated early, the gestational week was found to be highest [20 + 1 (12+3–21 + 1)] in those with preterm premature rupture of membranes, and lowest in those with fetal gastrointestinal abnormalities. No statistically significant differences were detected between the termination reason and the gestational week in the late-terminated group, and also, although the termination week of 5 patients for whom the fetocide procedure was offered [median = 23 + 1 (22+4–26 + 0] was higher than the week of 22 patients for whom the fetocide procedure was not offered [median = 22 + 4 (22+1–25 + 4], the difference was not found to be statistically significant. ConclusionSince the majority of pregnancy terminations are performed before the viable period, the need for the fetocide procedure in pregnancy terminations is relatively low, and we think that this rate will decrease even more because the rate of early diagnosis of fetal anomalies increases as a result of developments in ultrasonographic imaging.Families who choose the termination of pregnancy search for other countries with appropriate legislation and the loss of time and the indecision of the family might cause the application of pregnancy termination after the viable period because of the limitations in the legal regulations of countries.

Four-dimensional ultrasound in the diagnosis of intrauterine central nervous system anomalies: four dimensional in CNS congenital anomalies

Background Central nervous system (CNS) anomalies are an important factor of neonatal deaths. Three-dimensional (3D)/4D ultrasound (US) has an advantage over the conventional 2D US as it provides additional multiple options like multiplanar view, tomographic view, and surface rendering view leading to accurate diagnosis of fetal congenital anomalies. Aim The aim of this study was to evaluate the role of the 4D US in the diagnosis of in utero congenital CNS anomalies. Patients and methods The current study was conducted on 30 pregnant women with suspected congenital CNS anomalies by 2D US in Tanta University Hospitals. All the patients were subjected to 2D and 4D US examination in cases with suspected anomalies by 2D US. Results Out of 30 anomalies, two (6.5%) anomalies were lobar holoprosencephaly; six (20%) anomalies were anencephaly, three (10%) anomalies were exencephaly, one (3.5%) anomaly was aqueductal stenosis, three (10%) anomalies were chiari malformation with its two types I and II, and three (10%) anomalies were Dandy–Walker. Three anomalies were hydranencephaly (10%), three (10%) meningocele, one (3.5%) spina bifida, and two cases were obstructive hydrocephalus distal to the 4th ventricle (obstruction of foramen of luschka and magendie) (6.5%). As regards brain anomalies, sensitivity of 4D US=96.4%, specificity of 4D US=100%, positive predictive value=100%, negative predictive value=50.0%, and accuracy=96%. So, 4D US is more superior to 2D US in demonstrating anomalies of the CNS (through multiplanar view and tomographic views), which may affect the postnatal outcome. 4D US offers precise demonstration of normal and abnormal fetal structures through its different modes, so it helps in accurate prenatal diagnosis of CNS anomalies. Conclusion 4D US is considered now an important diagnostic tool in fetal medicine as it provides many advanced diagnostic options such as multiplanar view or tomographic imaging, volume calculation, and surface rendering mode, which aided in early diagnosis of fetal anomalies and improved postnatal outcome.

Maternal and fetal anaesthesia for fetal surgery.

Over the last three decades, advances in early diagnosis of fetal anomalies, imaging and surgical techniques have led to a huge expansion in fetal surgery. A small number of specialist centres perform fetal surgery, which involves high-risk anaesthesia for the mother and fetus. The anaesthetist plays an integral role within the large multispecialty and multidisciplinary team, involved in planning and delivering care for complex surgical procedures. This article reviews three fetal surgical procedures, congenital diaphragmatic hernia, myelomeningocele repair and ex-utero intrapartum treatment for airway obstruction. The underlying fetal pathology, surgical management, anaesthetic considerations and risks for both the mother and fetus are described for each. Fundamental to this is the understanding that clear communication and collaboration between all team members is vital to ensure successful outcomes of patients, the mother and the fetus.

Role of 4D Ultrasound in the Diagnosis of Intra-Uterine Cranio-Facial Anomalies

AbstractBackground: Craniofacial anomalies account for approx-imately one-third of all birth defects and are a significant cause of infant mortality. They include brain, cranial bone & facial anomalies. Ultrasound examination is an effective modality for the prenatal diagnosis of these anomalies. 3D/4D US offers several image displays for precise demonstration of the normal and abnormal anatomy of the fetus. Subtle or inconclusive Ultrasound abnormalities can be confirmed or ruled out by MRI.Aim of the Work: To evaluate role of the 4D ultrasound in diagnosis of in utero congenital cranio-facial anomalies.Patients and Methods: The study was conducted on 20 pregnant females with suspected congenital head anomalies by 2D ultrasound in Tanta University Hospitals at the Radio-diagnosis department. The cases were collected during a period starting from December 2015 to January 2017. All patients were subjected to 2D and 4D ultrasound examination.Results: As regards to brain anomalies, sensitivity of 4D ultrasound = 94.74%, specificity of 4D ultrasound = 100%, PPV = 100%, NPV = 50.0 % & accuracy = 95%. As regards to cranial bone anomalies, sensitivity of 4D ultrasound = 100%, specificity = 100 %, PPV = 100%, NPV = 100 % & accuracy = 100%. As regards to facial anomalies, sensitivity of 4D ultrasound = 100%, specificity = 100 %, PPV = 100%, NPV = 100 % & accuracy = 100%. So 4D ultrasound is more superior to 2D ultrasound in demonstrating anomalies of the face, cranial bone (mainly through surface rendering mode) and brain (through multiplanar & tomographic views) which may affect the post natal outcome.Conclusion: 4D US is considered now an important diagnostic tool in fetal medicine as it provides many advanced diagnostic options like multiplanar, multiview or tomographic imaging, volume calculation and surface rendering mode which aided in early diagnosis of fetal anomalies and improved postnatal outcome.

784: Effect of maternal morbid obesity on completion and sensitivity of the fetal anatomic survey

Maternal morbid obesity (MO), defined as body mass index (BMI) ≥40kg/m2, presents technical challenges during ultrasound (US) and increases the risk for fetal anomalies. Optimizing patient choice and pregnancy outcomes is contingent upon the early diagnosis of fetal anomalies. The objective of this study was to determine the completion rates of fetal anatomic surveys < 20 weeks estimated gestational age (EGA) when categorized by maternal BMI.

The Application of Three-dimensional Ultrasonography in the Prenatal Diagnosis of Arthrogryposis

To present the application of three-dimensional (3D) ultrasonography in the early prenatal diagnosis of fetal arthrogryposis. A 26-year-old multipara had a fetus with anomalies of the limbs as shown by conventional ultrasonography at 18 weeks of gestation. A follow-up 3D ultrasonogram at the same gestational age was consistent with the diagnosis of arthrogryposis. Based on an abnormal chromosome 18p on the fetal karyotype, termination of the pregnancy was performed at 22 weeks' gestation. The outward appearance of the fetus coincided with the prenatal sonographic findings of arthrogryposis. As an advanced and sophisticated technology, 3D ultrasonography can serve as a useful technique for the early diagnosis of fetal anomalies, including arthrogryposis. The earlier the diagnosis is established, the earlier the appropriate management can be initiated, including counseling, additional work-up and timely termination of pregnancy, if indicated.

P45.08: Added value of 3D/4D ultrasound modalities in the diagnosis and evaluation of fetal cardinal vein anomalies

Introduction: Early diagnosis of fetal anomalies is desirable, so screening for congenital anomalies at 11–14 weeks’ gestation is routinely offered to every pregnant woman in our country, regardless of family history. The finding of an increased NT 99th centile is considered to be the strongest predictor of congenital heart defects (CHD) at this time of pregnancy. While patients at high-risk for CHD may benefit from an early fetal echocardiography, this is an extremely challenging scan, which is not easily available. The application of STIC technology could overcome this fact, allowing an offline analysis of 4D volumes of such high-risk pregnancies, in order to be selectively derived to the fetal cardiologist. Case reports: We present three cases in which a CHD was correctly diagnosed by analyzing 4D STIC volumes at 11–14 weeks’ gestation. Indications for study were the presence of a NT >99th centile in Case 1, and suspicion of heart anomaly in Cases 2 and 3. 4D STIC volumes using grayand color Doppler were acquired by transvaginal approach for posterior review. The diagnosis inferred by STIC were the following:

Megavejiga en el primer trimestre de embarazo. Resolución espontánea

The increasing use of ultrasonography in pregnancy has allowed the early diagnosis of fetal anomalies. The incorporation of a routine 10-14 week ultrasound scan into prenatal care has increased the early detection of megacystis. The finding of a distended bladder will prompt a series of investigations to establish the etiology and the possibility of in utero treatment. The value of in utero treatment is currently uncertain and long-term randomized studies are required to establish its utility.