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During first-trimester ultrasound examination, the fetal bladder is described as an anechoic structure in the fetal pelvis. It can be observed from 10 weeks of pregnancy when the fetus starts producing urine. Fetal megacystis (FM) is defined, in the first trimester, as longitudinal bladder diameter of more than 7 mm. It can occur in 0.06% of the pregnancies. The management of FM is complex due to the various etiology and uncertain evolution. The leading cause of FM is lower urinary tract obstruction (LUTO). This pathology leads to hydronephrosis, renal dysplasia and severe oligohydramnios, with a poor prognosis. The FM management should search for chromosomal or genetic defects and associated fetal abnormalities. The broad spectrum of etiologies and prognosis makes the counseling challenging. We present the case of a 28-year-old pregnant woman referred for first-trimester investigations. The patient had an obstetrical history of a pregnancy with complex body stalk anomaly (BSA) – with termination of pregnancy at 12 weeks of gestation. Both maternal and paternal karyotype were normal. At 9 weeks of gestation, the ultrasound examination revealed an enlarged bladder, with 5 mm longitudinal diameter. Later on, at 12 weeks of gestation, a cystic appearance at the level of the umbilical cord insertion that communicated widely with the urinary bladder and abnormal aspects of the genitals for the gestational age were detected. These aspects maintained in the second trimester of pregnancy and progressive oligohydramnios was described. At 17 weeks of gestation, after proper counseling, the patient decided to terminate the pregnancy. The fetal necropsy confirmed the presence of FM, bladder exstrophy and the abnormal external genital organs. The genetic testing revealed a normal fetal karyotype. In conclusion, FM and bladder exstrophy occur most frequently due to LUTO. Fetal megacystis can be suspected even from 9 weeks of gestation. Although found in the same patient, BSA and FM syndromes did not seem to have a genetic cause. [ABSTRACT FROM AUTHOR]

Introduction. Twin-to-twin transfusion syndrome (TTTS) is a severe complication in monochorionic multiple pregnancies, with high mortality rates. Early TTTS represents 7-23% of all TTTS and is defined as debut before 18 weeks of pregnancy. The early diagnosis of TTTS is not standardized at this moment, but Quintero staging, based on two-dimensional ultrasound and Doppler study, can be helpful even in the first trimester, although those assessment are appropriate for the second trimester. Case presentation. We present the case of a 29-year-old woman with no medical history who was referred at 8 weeks and 2 days of amenorrhea. The transvaginal ultrasound assessment revealed two GS (gestational sacs) with two embryos. A marked discordance was noted between the CRLs (crown-rump length) of the two embryos. At 11 weeks and 4 days, the patient was examined, and we observed the appearance of the “lambda” sign which suggested a dichorionic diamniotic pregnancy. The discordance in the development of the two fetuses was maintained. After a thorough morphological examination, a fetal cystic hygroma and a ductus venosus agenesis were noticed in the smaller fetus. Noninvasive prenatal testing was recommended, with normal results. At 13 weeks and 4 days of amenorrhea, the patient was examined, and a 21% discordance was noted between the two fetuses. Also, inside the GS of one of the fetuses, we noticed a thick amniotic band that was probably misinterpreted before as a “lambda” sign. The pregnancy was considered monochorionic/diamniotic. At this point, we suspected an early TTTS. The ultrasound aspect of cystic hygroma and ductus venosus agenesis was persistent. The patient requested medical termination of pregnancy. The forensic exam of the fetuses revealed a severe growth discordance between the two fetuses, a unique placenta and an amniotic band. The genetic exam revealed two female fetuses with normal karyotypes. Conclusions. The early diagnosis of TTTS is rare, and most of them remain undiagnosed, waiting for the fusion of the chorioamniotic membrane after 16 weeks of pregnancy. One amniotic band can be misinterpreted as chorioamniotic membrane and the “lambda” sign can be described in early pregnancies. [ABSTRACT FROM AUTHOR]

Introduction. Vertical transmission of hepatitis C virus (HCV) occurs in rare cases (5-8%), more often during birth and, seldom, transplacental, before birth. Hepatitis C virus can cause acute or chronic hepatitis. Materials and method. We present the case of a 42-year-old woman, gravida 2, para 2, with 32 weeks of gestation. The ultrasound exam noticed fetal ascites, polyhydramnios and echogenic fetal bowel. The mother was tested for the TORCH panel, including HCV. Anti-HCV antibodies were present. We decided to perform fetal cordocentesis, paracentesis and amniocentesis. From cordocentesis we obtained approximately 8 ml of fetal blood, analyzed for: albumin, direct bilirubin, indirect bilirubin, total bilirubin, blood count, blood glucose, direct Coombs test, HCV RNA, IgM antibodies for cytomegalovirus/toxoplasmosis/Rubella/herpes simplex type 1 and 2. Also, 160 ml of fetal ascites fluid were sent for cytological and biochemical analysis, and 40 ml of clear amniotic fluid were used to detect infection with herpes simplex, Epstein-Barr or parvovirus. Results. The biochemical tests and blood count performed from the fetal blood were within normal range. The direct Coombs test was negative. HCV RNA was detected. Antibodies for cytomegalovirus/toxoplasmosis/Rubella/herpes simplex type 1 and 2, Epstein-Barr and parvovirus B19 were absent. The biochemical tests performed from the fetal ascites fluid showed: red blood cells 3000/mm³, leukocytes 835/mm³, glucose 57 mg/dL, albumin 1.90 g/dL, creatinine 0.53 mg/dL, urea 19 mg/dL, proteins 3.4 g/dL, positive Rivalta test. HCV RNA was detected. IgM antibodies for cytomegalovirus/toxoplasmosis/Rubella/herpes simplex type 1 and 2 were all absent. Fetal ascites markedly decreased and normal echogenicity of the bowel was noted. Conclusions. In rare cases, HCV can be transmitted vertically from the mother to the unborn baby. Cordocentesis and paracentesis helped us diagnose the fetus before birth and improve his prognosis after birth. [ABSTRACT FROM AUTHOR]

Introduction. Hepatitis C virus (HCV) can cause acute or chronic hepatitis. HCV can be spread through inadequate sterilization or reuse of syringes and needles, blood transfusion, injecting drug use, sexual intercourse, and vertical transmission from the mother to the fetus, although the last two are very rare. Vertical transmission of HCV occurs in rare cases (5-8%), more often during birth, and seldom transplacental, before birth. Women infected with HCV are more predisposed to give birth to preterm babies or low birth weight babies, or babies with congenital anomalies. Materials and method. We present the case of a 42-year-old woman, gravida 2, para 2, with a 32-33-week pregnancy, with not investigated deaf-mutism, who came in the emergency room for preterm labor contractions. At the ultrasound exam, we noticed fetal ascites, polyhydramnios and echogenic fetal bowel. The patient was admitted to our clinic for further investigations. We recommended an amniocentesis and a genetic consultation. The mother was tested for the TORCH panel, including HCV. The anti-HCV antibodies were present. In our service, the mother was also diagnosed with gestational diabetes. Following the clinical and paraclinical investigations performed, we decided to perform fetal cordocentesis, paracentesis and amniocentesis. Under ultrasound guidance, we performed cordocentesis and obtained approximately 8 ml of fetal blood and sent it for the following biological tests: albumin, direct bilirubin, indirect bilirubin, total bilirubin, blood count, blood glucose, direct Coombs test, HCV RNA, IgM antibodies for cytomegalovirus/ toxoplasmosis/rubella/herpes simplex type 1 and 2. For the second puncture, the catheter was introduced at the level of the fetal peritoneal cavities under ultrasound guidance. We extracted 160 ml of fetal ascites fluid and sent it for cytological and biochemical analysis (leukocytes, red blood cells, glucose, albumin, creatinine, urea, proteins, Rivalta test, cytological examination). We also performed amniocentesis and collected 40 ml of clear amniotic fluid. We used it to detect an infection with herpes simplex virus, Epstein-Barr virus, or parvovirus. Results. The biochemical tests and blood count performed from the fetal blood were within normal range. The direct Coombs test was negative. HCV RNA was detected (251 UI/mL). IgM antibodies for cytomegalovirus/ toxoplasmosis/rubella/herpes simplex type 1 and 2 were all absent, and antibodies for Epstein-Barr virus and parvovirus B19 were also absent. The cytological exam of the ascites fluid showed smears with hypercellularity: very frequently lymphocytes, rare isolated mesothelial cells within normal cytological limits, rare polymorphonuclear leukocytes, and rare red blood cells. The biochemical tests performed from the fetal ascites fluid showed: red blood cells (3000/mm3), leukocytes 835/mm3, glucose 57 mg/dL, albumin 1.90 g/dL, creatinine 0.53 mg/dL, urea 19 mg/dL, proteins 3.4 g/dL, positive Rivalta test. HCV RNA was detected. IgM antibodies for cytomegalovirus/toxoplasmosis/rubella/ herpes simplex type 1 and 2 were all absent. After fetal diagnosis, our colleagues from the infectious disease department recommended parenteral/oral hepatoprotective treatment for the mother; there was no possibility of antiviral treatment of the fetus. After performing the paracentesis of the fetus, the amniotic fluid was in the normal range, the fetal ascites were in small quantity with ultrasonographic hepatosplenomegaly aspect and normal echogenicity of the bowel. Almost seven weeks after the paracentesis, the patient gave birth to a baby, gender male, weight 2880 g, with an Apgar score of 7, which was handed over to the neonatology service, for further investigations. Conclusions. In rare cases, HCV can be transmitted vertically from the mother to the unborn baby. Cordocentesis and paracentesis helped us diagnose the fetus before birth and improve his prognosis after birth. [ABSTRACT FROM AUTHOR]

Introduction. The assessment of the fetal limbs is a standard practice of the first-trimester screening at 11-14 weeks. The assessment of the fetal skeletal system in the first trimester of pregnancy provides a real advantage due to the fact that in late gestation fetal crowding makes evaluation more challenging. Materials and method. This is a retrospective study of cases with limb anomalies diagnosed in our department, the Clinic of Obstetrics and Gynecology of the University County Emergency Hospital Craiova, during the 11-14 weeks screening scan. We had a number of 312 cases included in our study, from April 2020 to February 2022. All cases had to meet the following criteria: the fetuses must have a CRL between 45 and 84 mm, all assessments had to fulfil the recommendations of the national guide for ultrasound screening for fetal anomalies in the first trimester of pregnancy, and all cases must have detailed images or movies showing all four limbs. Results. We had a total of five cases of limbs anomalies, either isolated, or as part of a syndrome. We had one case of club foot, one case of abnormal position of the feet as part of a trisomy 18 and one case of partial lower limb amputation as part of an amniotic band syndrome. Regarding the upper limbs, we had one case of polydactyly and one case of congenital forearm agenesis. Conclusions. Detailed ultrasound of the fetal limbs at 11-14 weeks may reveal an important number of cases of limb anomalies that were previously diagnosed at the 20-week scan. The key is obtaining images and films that illustrate the structure motion of the limbs. Transvaginal ultrasound is helpful for detailed imaging. [ABSTRACT FROM AUTHOR]