Prenatalna identifikacija izolirane aberantne potključne arterije: je li potrebna daljnja genetska obrada?

The objective of this study was to evaluate the association between aberrant right subclavian artery (ARSA) and chromosomal abnormalities. The study included 5211 women having attended our unit for fetal anatomic screening and fetal echocardiography from August 2016 until February 2019. After diagnosing ARSA, prenatal invasive testing was discussed with the patients. ARSA affected fetus was determined in 57 cases; of these, there were 38 cases of isolated ARSA and 19 cases of non-isolated ARSA but associated with soft markers and fetal anomalies. Nineteen patients underwent amniocentesis; Down syndrome was determined in two women, both of them from the non-isolated ARSA group, with fetal hydrops, atrioventricular septal defect and esophageal atresia. Fifteen of 38 patients who declined prenatal diagnostic testing, accepted karyotype analysis after delivery and none of these 15 cases had chromosomal abnormalities. Identification of ARSA should be followed by detailed ultrasound examination to ensure that there are no accompanying soft markers and/or structural defects. Isolated ARSA may not be an indication for karyotype analysis or 22q11.2 microdeletions. Non-ARSA implies a strong predictor of aneuploidy, and when additional findings are detected, invasive testing should be offered to the parents. The association between isolated ARSA and genetic disease should be evaluated in large powered prospective studies.Cilj ovoga istraživanja bio je procijeniti udruženost aberantne desne potključne arterije (ADPA) i poremećaja kromosoma. Istraživanje je obuhvatilo 5211 žena koje su posjetile našu jedinicu za anatomski probir i fetalnu ehokardiografiju od kolovoza 2016. do veljače 2019. godine. Nakon što je dijagnosticirana ADPA sa ženama se razgovaralo o prenatalnom invazivnom testiranju. Fetalna ADPA utvrđena je u 57 slučajeva, uključujući 38 slučajeva izolirane ADPA i 19 slučajeva ne-izolirane ADPA, ali udružene s „mekim“ biljezima i fetalnim anomalijama. Devetnaest žena podvrgnuto je amniocentezi. Downov sindrom utvrđen je kod dvije žene, obje iz skupine s ne-izoliranom ADPA, s fetalnim hidropsom, atrioventrikulskim septalnim defektom i atrezijom jednjaka. Petnaest od 38 žena koje su odbile prenatalno dijagnostičko testiranje prihvatilo je analizu kariotipa nakon porođaja i nijedna od njih nije imala kromosomne poremećaje. Nakon identificiranja ADPA treba uslijediti podroban ultrazvučni pregled kako bismo bili sigurni da ne postoje prateći „meki“ biljezi i/ili strukturni defekti. Izolirana ADPA ne mora biti indikacija za analizu kariotipa ili mikrodelecije 22q11.2. Ne-ADPA snažno upućuje na aneuploidiju, a kad se dobiju dodatni nalazi tada treba roditeljima ponuditi invazivno testiranje. Udruženost izolirane ADPA i genetske bolesti treba procijeniti u velikim i valjanim prospektivnim studijama

The outcome of the vein of Galen aneurysmal malformation cases diagnosed prenatally

Vein of Galen aneurysmal malformation (VGAM) is a rare foetal anomaly associated with neurodevelopment delay, cardiac failure, and even perinatal death. We aimed to assess prenatal features of VGAM and describe postnatal outcomes. This was a retrospective study involving six foetuses diagnosed with VGAM prenatally in two centres. All of the cases underwent foetal neurosonography and echocardiography. The presence of ventriculomegaly, intracranial haemorrhage and cardiac failure was recorded. Pregnancy and neonatal outcome information were obtained from medical records. The mean gestational age at diagnosis was 31.1 ± 5.1 weeks, and the mean size of VGAM was 29.2 ± 5.2 × 26.4 ± 3.3 mm. Ventriculomegaly was detected in five of six (83.3%) cases. Intracranial haemorrhage was present in five (83.3%) cases. Cardiac failure was shown in four (66.6%) foetuses. Three foetuses underwent termination of pregnancy (TOP); in two cases, neonatal death occurred. One patient was treated with endovascular embolisation, and there was no cardiac problem or neurodevelopment delay. Prenatally diagnosed VGAM have a poor prognosis, mainly if a cardiac failure or neurological consequences (intracranial haemorrhage, hydrocephaly) are present in utero.Impact Statement What is already known on this subject? VGAM is the most common cerebral arteriovenous malformation detected prenatally, and it can lead to severe consequences in the perinatal period. What do the results of this study add? The accuracy of foetal neurosonography is excellent for detecting VGAM and associated brain abnormalities. Foetal echocardiography is mandatory for the prediction of prognosis What are the implications of these findings for clinical practice and/or further research? VGAM is associated with severe brain injury, cardiac failure, and the prognosis is generally poor. We need predictors to identify those expected to benefit from postnatal therapy

ABRUPTIO PLACENTAE AFTER AMNIOREDUCTION IN TWIN-TO-TWIN TRANSFUSION SYNDROME (TTTS)

Twin-to-twin transfusion syndrome (TTTS) is a unique complication of monochorionic twin pregnancies. TTTS is the well-known cause of perinatal mortality and morbidity in monochorionic pregnancies. Fetoscopic laser ablation is the optimal treatment but in some selected cases amniodrainage can be performed. We hereby report a case of placental abruption after amniodrainage in a monochorionic diamniotic twin pregnancy. A 37-year-old gravida 4 para 3 who was 26 weeks pregnant was referred to our clinic for monochorionic diamniotic twin pregnancy. Ultrasonographic examination revealed that one of the twins has polyhydramnios while the other has oligohydramnios. The bladder of each twin was visualized separately. We suspected Quintero stage 1 TTTS. Amniodrainage is the appropriate treatment of choice at this time of pregnancy. We performed amniodrainage with a vacuum aspiration device. During the procedure, there was no bleeding in amniotic fluid and cardiac activity of both the twins was visualized. After 15 minutes, profused vaginal bleeding and uterine contractions started and was diagnosed with abruptio placentae and an emergency cesarean section was done. In monochorionic twin pregnancies complicated by TTTS, amniodrainage can be performed in selected cases. This procedure has some rare complications such as abruptio placentae, preterm delivery, and preterm rupture of membranes. These complications are not due to the amount and speed of draining the amniotic fluid but some randomized controlled studies are needed in this aspect

Intertwin membrane cord insertion in dichorionic twin pregnancy: The description and comparison with other umbilical cord insertion types

Purpose Multiple pregnancy is associated with high perinatal mortality and morbidity. Abnormal cord insertions more common in twin pregnancies compared to singleton pregnancies and velamentous cord insertion is related with poor pregnancy outcomes. There is no definition of velamentous cord insertion into the intertwine membrane between two fetuses in the literature. Methods In our single-center cross-sectional study, monochorionic-diamniotic and dichorionic-diamniotic twins who were admitted to our clinic between 18 + 0 and 23 + 6 weeks of pregnancy were enrolled in this study. We evaluated fetal, placental, and umbilical cord abnormalities in addition to fetal growth restrictions and weight discordance by ultrasonography. Results Although abnormal cord insertion frequency was significantly higher in monochorionic twins (p = 0.003), intertwin membrane cord insertion could only occur in dichorionic twins. In cases with cord insertion anomaly; FGR and weight discordance was observed more frequently (p < 0.001 and p = 0.003, respectively). Weight discordance, the presence of abnormal cord insertion and abnormal UAD were found as statistically significant predictors of FGR (p < 0.001, p = 0.021, and p < 0.001, respectively). Conclusion Intertwin membrane insertion is a novel umbilical cord insertion abnormality. The presence of abnormal umbilical cord insertion is a risk factor for poor pregnancy outcomes in twin pregnancies

Pregnancy in liver transplant recipients: A single center outcomes

Aim: Liver transplantation (LT) is the only effective treatment for the end-stage liver disease. Although pregnancy after LT is considered to be safe, these patients are difficult to manage for obstetricians. In this study, we aimed to determine maternal and fetal outcomes in pregnancies after LT

PRENATAL DIAGNOSIS OF ISOLATED SPLIT HAND/FOOT MALFORMATION

Split hand/foot malformation (SHFM) also known ectrodactyly is a rare orthopaedic malformation which is characterised by the deficiency or absence of one or more central digits of the hand or foot. The associated anomalies are median cleft, syndactyly or aplasia/hypoplasia of the phalanges, metacarpals and metatarsals of hands or feet. It can be isolated or accompany a syndrome. In our case, we introduced prental diagnosis of isolated form of ectrodactyly in both extremities. After genetic counselling we terminated the. In this report, we aimed to explain the importance of multidiciplinary approach to extremity anomalies

Antenatally detected ureterocele: Associated anomalies and postnatal prognosis.

Objective: We purposed to review prenatal diagnoses of ureterocele, to determine the sonographic findings and additional abnormalities, and to illustrate the pregnancy outcomes of these patients

Prenatal diagnosis and outcome of unilateral multicystic kidney

We reviewed the records of 144 patients. The mean gestational age at first US diagnosis was 27.5 +/- 4.3 weeks. An anomaly of the contralateral kidney was detected in 25% of cases. An extrarenal anomaly was detected in 13.8%. Karyotype analysis was performed in 16.6% of cases and revealed trisomy 18 in 2 cases with extrarenal defects. Karyotype analysis was normal in all the patients who had isolated multicystic dysplastic kidney (MCDK). The diagnostic accuracy of prenatal ultrasound was 92.2%. Contralateral kidney anomaly was detected 33.9% of patients, and half of these were vesicoureteral reflux. Antihypertensive therapy was required in 2.6% of cases. Nephrectomy was performed in 8%, and partial or total involution of MCDK was achieved in 33.9% of patients. MCDK can be accurately diagnosed by prenatal sonography, and prognosis depends on extrarenal and contralateral renal abnormalities. In isolated cases, require of surgery is rare, and serial follow-up is suggested to determine involution. Impact statemen

FETAL BRAIN SHRINKAGE: A RARE, MYSTIFYING ANOMALY

Objective: Brain shrinkage in fetal life is a dismal, misunderstood anomaly. In this report, we described a rare case of severe brain shrinkage diagnosed in the 25th weeks of gestation complicated with fetal anemia and ascites

UROLOGIC COMPLICATIONS IN THE MANAGEMENT OF ABNORMAL PLACENTAL INVASION; 5-YEARS OF EXPERIENCE OF A SINGLE TERTIARY CENTER

Objective: To evaluate the urologic complications in the management of abnormal placental invasion in a tertiary care institution