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Öğe PP-17 A case of Meckel-Gruber syndrome diagnosed in the first trimester(2023) Polat, Büsra Berfin; Melekoglu, RaufObjective Meckel-Gruber syndrome (MGS), an autosomal recessively inherited hereditary syndrome from the group of ciliopathies, is characterized by occipital encephalocele, large polycystic kidneys and postaxial polydactyly, resulting from the involvement of multiple genes and therefore has 15 phenotypes, occurring in 1 in 13,250-140,000 live births worldwide. Prenatal ultrasonography is the best available method to diagnose MGS. In this report, we aimed to present the prenatal diagnosis of a first trimester MGS case. Case A 25-year-old patient with gravida 3, parity 1, 14 weeks and 1 day gestation according to the last menstrual period was admitted to the prenatal diagnosis and treatment unit of our clinic for a first trimester screening test. In the ultrasonographic examination of the patient who had a history of MGS in her previous pregnancy, fetal cranial evaluation revealed acrania, exencephaly, anencephaly sequence (figure 1) and open spina bifida anomaly. Fetal abdominal evaluation revealed bilateral cystic kidneys (figure 2). Fetal extremity evaluation revealed no clear evaluation for postaxial polydactyly. The family was informed in detail about the possible poor fetal/neonatal prognosis of the fetus, which was primarily diagnosed as MGS according to the sonographic findings, and invasive prenatal diagnostic testing and pregnancy termination were presented as options. The family decided to terminate the pregnancy without invasive prenatal diagnostic testing. After termination of pregnancy, genetic examination of the abortion material was requested. Macroscopic examination of the abortion material confirmed prenatal findings (figure 3). The family was referred to the genetics outpatient clinic. Discussion Prenatal features of MKS, such as postaxial polydactyly, encephalocele, and polycystic kidneys, are often profound and easily detectable in the first trimester. The findings of a large population-based review that estimated the incidence of typical symptoms were as follows: encephalocele, 83.8%; polydactyly, 87.3%; and cystic kidney disease, 97.7%.[2] Therefore, targeted prenatal diagnosis of MKS is usually triggered by these findings. However, the presence of encephalocele is not specific to MKS. Only 21% of fetuses diagnosed with prenatal encephalocele will have MCS,[3] and the same is true for polycystic kidney finding. The majority of confirmed hereditary cystic kidney disease detected prenatally is autosomal recessive polycystic kidney disease (ARPKD), diagnosed in 81% of cases. Meckel-Gruber syndrome was found in only 8% of such cases.[5] Conclusion MGS is a rare autosomal recessive condition with a mortality of 100%; diagnosis is possible antenatally even in the first trimester of pregnancy by prenatal sonographic examination. Given its mortality, early diagnosis of MGS and other such lethal anomalies has a significant impact on family counseling, especially when it comes to termination of pregnancy. Early prenatal diagnosis and genetic counseling are important in the management of this case with a first trimester prenatal diagnosis due to the high recurrence rate of 25% in subsequent pregnancies of the mother.Öğe PP-18 Prenatal sonographic diagnosis of VACTERL syndrome(2023) Polat, Büsra Berfin; Melekoglu, RaufObjective VACTERL syndrome is a genetic syndrome that occurs in 1 in 10,000 to 40,000 newborns. No specific genetic or chromosomal defect associated with VACTERL syndrome has been identified. It is defined by the presence of vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies and at least three of the limb abnormalities seen on ultrasonography. In this report, we aimed to present the prenatal diagnosis of a case of VACTERL syndrome with multiple fetal anomalies.[2] Case A 30-year-old patient with a gravida 2, parity 1, 22 weeks and 3 days gestation according to the last menstrual period was admitted to the prenatal diagnosis and treatment unit of our clinic for fetal anomaly screening. Ultrasonography showed positive fetal heartbeat, normal amniotic volume and small biometric measurements according to the gestational age. Fetal neurosonography showed lemon sign and banana sign (figure 1) and vertebral evaluation revealed open spina bifida (meningomyelocele) at the S1-S4 level of the sacral vertebrae. Fetal abdominal examination revealed gastroschisis (figure 2) and horseshoe kidney anomaly. Fetal echocardiography showed complete AVSD. Fetal extremity examination revealed bilateral pes equinovarus and genital examination revealed anal atresia. The family was informed in detail about the possible poor fetal/neonatal prognosis of the fetus with VACTERL syndrome in the foreground and invasive prenatal diagnostic test and termination of pregnancy were presented as options. The patient underwent amniocentesis. Without waiting for the results of amniocentesis, the patient and her husband requested termination of the pregnancy due to multiple fetal anomalies present in the fetus. After termination of pregnancy, fetal autopsy confirmed the prenatal findings (figure 3). Discussion Numerous studies have investigated over 400 cases involving fetuses with VACTERL syndrome and partial caudal regression syndrome. The reported incidence rates of various abnormalities were as follows: spine abnormalities ranged from 60% to 80%, anal atresia from 55% to 90%, tracheoesophageal abnormalities from 50% to 80%, cardiac malformations from 40% to 80%, limb malformations from 40% to 50%, and kidney malformations from 50% to 80%. In conclusion, prenatal ultrasonic diagnosis plays an indispensable role in identifying VACTERL syndrome and partial caudal regression syndrome, offering valuable guidance for obstetric treatment. Its clinical implementation is highly warranted.[1] Conclusion VACTERL syndrome is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies and limb abnormalities. In addition to these main component features, patients may have other congenital anomalies. It is possible to suspect the diagnosis by antenatal ultrasonography. It is important to detect, suspect and investigate further when the first signs appear on a routine ultrasound scan.Öğe PP-19 Prenatal diagnosis of isolated bilateral congenital cataract(2023) Polat, Büsra Berfin; Melekoglu, RaufObjective Congenital cataract stands as an orbital anomaly characterized by lens opacity, manifesting unilaterally or bilaterally, with an incidence of 1 in 10,000 births. Genetic syndromes are identifiable in roughly 10% of cases; nonetheless, congenital infections have been discerned in approximately 30% of instances. In the presence of unilateral or bilateral congenital cataracts, a comprehensive ultrasound evaluation, encompassing neurosonography, invasive prenatal diagnostic testing for karyotyping, and maternal TORCH panel analysis for fetal infections, becomes imperative. Furthermore, maternal utilization of pharmaceuticals (including steroids), radiation exposure, or exposure to potential teratogens, along with any underlying metabolic conditions, should be meticulously investigated for their potential etiological implications. In the context of this report, our objective is to present a case involving the prenatal diagnosis of an isolated instance of bilateral congenital cataract.. Case A 36-year-old patient, gravida 6, parity 4, at 24 weeks and 4 days of gestation, was admitted to the prenatal diagnosis and treatment unit at our clinic for fetal anomaly screening. The patient had a history of pregestational diabetes mellitus and was meticulously monitored. Ultrasonographic examination confirmed a positive fetal heartbeat, while biometric measurements aligned with the gestational age, and amniotic fluid volume remained within normal ranges. Notable findings in fetal facial assessment included increased opacity observed in bilateral lenses within the coronal plane and orbital assessment (figure 1). Fetal neurosonography and abdominal evaluation yielded no evidence of periventricular calcification, hepatic/splenic calcification, or hyperechogenic bowel. Given the patient’s history of congenital cataract in a previous child, an isolated diagnosis of congenital cataract was considered. Upon fetal cardiac evaluation, borderline myocardial hypertrophy and perimembranous ventricular septal defect (VSD) were identified. At this juncture, the option of invasive prenatal diagnostic testing or cell-free fetal DNA analysis in maternal blood was presented. Maternal blood TORCH panel analysis yielded no abnormal findings, and in light of the patient’s preferences, she chose not to undergo invasive prenatal diagnostic testing. Throughout this process, the family was provided with comprehensive information regarding potential neonatal complications. Discussion Genetic testing and prenatal ultrasound have become primary methods of diagnosing congenital cataracts. The analysis by Yue Qin et al found a total of 41 cases of congenital cataracts diagnosed prenatally among 788,751 women who underwent the mid-tirmester fetal anatomical scan. Based on sonographic features, 16/41 (39.0%) had an intense echogenic pattern, 15/41 (36.6%) had a hyperechogenic spot, and 10/41 (24.4%) had a “double ring” sign. 17/41 (41.5%) were isolated and 24/41 (58.5%) had associated intraocular and extraocular findings. Microphthalmia, cardiac abnormalities and central nervous system abnormalities were the most common associated abnormalities. Potential etiology regarding the disease, 6 cases had known family history of congenital cataracts, 4 cases had confirmed congenital rubella infection, and 2 cases had aneuploidy.[3] Conclusion Congenital cataract comprises 7.4-15.5% of all cases of childhood blindness. Detecting congenital cataract during the prenatal phase and discerning any potential associations with other pathologies are critical measures for timely intervention and treatment of conditions that could lead to morbidity, mortality, or vision impairment. Emphasizing the significance of precise prenatal diagnosis of congenital cataract, this process greatly aids patients and their families by enabling personalized genetic counseling. Therefore, meticulous sonographic evaluations, taking into consideration the patient’s specific risk factors, are paramount to ensuring comprehensive care.Öğe PP-20 Prenatal sonographic diagnosis of Ebstein anomaly(2023) Polat, Büsra Berfin; Melekoglu, RaufObjective Ebstein’s anomaly, which accounts for 1% of congenital cardiac anomalies, is a rare congenital cardiac anomaly with a prevalence of 0.3 -0.5% and an incidence of 1 in 20000 live births. Pathologically, it is characterized by abnormal positioning of the septal and/or posterior leaflet of the tricuspid valve towards the right ventricular apex. The right ventricular area is reduced and the infundibulum is obstructed by the anterior leaflet secondary to atrialization of the portion of the right ventricle between the level of the true annulus and the level of the false annulus. Antenatal diagnosis is usually made by fetal echocardiography. The main findings of this pathology seen on fetal echocardiography are apical displacement of the tricuspid valve and consequent atrialization of the right ventricle, right ventricular failure, cardiomegaly, tricuspid valve insufficiency, ventricular septal defect and atrial septal defect. Antenatal diagnosis is very important because it is a rare congenital cardiac anomaly and mortality is significantly reduced with appropriate neonatal management. In this report, we aimed to present the prenatal diagnosis of a very rare case of Ebstein anomaly. Case A 35-year-old patient with gravida 3, parity 2, 22 weeks and 1 day gestation according to the last menstrual period was referred to the prenatal diagnosis and treatment unit of our clinic due to suspicion of cardiac anomaly. In the ultrasonographic examination of the patient, fetal heartbeat was positive, amniotic fluid volume was high, and biometric measurements were compatible with the gestational week. Fetal cardiac examination revealed severely dilated right atrium (figure 1), severe tricuspid regurgitation (tricuspid regurgitation) (figure 2) and severe pulmonary hypoplasia (figure 3). The family was informed in detail about the possible poor fetal/neonatal prognosis of the fetus with Ebstein’s anomaly and invasive prenatal diagnosis was offered as an option. Fetal echocardiography was planned for the patient who did not want to undergo invasive prenatal diagnostic testing. Pregnancy follow-up and delivery were recommended to be performed in a tertiary care center with pediatric cardiovascular surgery facilities. Discussion In the multicenter fetal cohort with Ebstein’s anomaly and tricuspid valve dysplasia reported by Freud et al., perinatal mortality was found about 45%. This was considerably higher than other types of congenital heart disease in the current era. However, a greater proportion of fetuses survived to birth compared with previous series of single-center Ebstein’s anomaly and tricuspid valve dysplasia in the last few decades. This can be attributed to a combination of factors, including a lower rate of termination of pregnancy and an increased likelihood that progress in prenatal diagnosis will identify less severely affected fetuses.[3] Conclusion The symptoms of Ebstein’s anomaly, a very rare congenital cardiac anomaly, vary depending on the degree of tricuspid regurgitation, whether ventricular function is impaired, whether the infundibulum is obstructed, and whether fetal arrhythmia is present. In this case, which we suspected on the basis of dilatation of the right atrium and the accompanying cardiac findings, the prognosis depends on the severity of the malformation. Severe cases may result in intrauterine death. Accordingly, in cases where surgical treatment is necessary and intrauterine death does not occur, Ebstein anomaly should be considered in cases with abnormally located tricuspid valve, right atrial dilatation, pulmonary stenosis or functional atresia. Since the mortality rate in these cases is significantly reduced with appropriate prenatal and neonatal management, it is important to detect, suspect and investigate further when the first signs appear on a routine ultrasound scan.[4]
