Prenatal Diagnosis and Findings in Ureteropelvic Junction Type Hydronephrosis

The widespread use of obstetric ultrasonography has increased the detection rate of antenatal hydronephrosis. Although most cases of antenatal hydronephrosis are transient, one third persists and becomes clinically important. Ultrasound has made differential diagnosis possible to some extent. Ureteropelvic junction type hydronephrosis (UPJHN) is one of the most common cause of persistent fetal hydronephrosis and occurs three times more in male fetuses. It is usually sporadic and unilateral. However, when bilateral kidneys are involved and presents with severe hydronephrosis, the prognosis may be poor. Typical ultrasound findings of UPJHN is hydronephrosis without hydroureter. The size and appearance of the fetal bladder is usually normal without thickening of the bladder wall. Several grading systems are developed and increasingly being used to define the severity of prenatal hydronephrosis and provides much more information about prediction of postnatal renal prognosis. If fetal urinary tract dilation is detected; laterality, severity of hydronephrosis, echogenicity of the kidneys, presence of ureter dilation should be assessed. Bladder volume and emptying, sex of the fetus, amniotic fluid volume, and presence of associated malformations should be evaluated. Particularly the ultrasonographic signs of renal dysplasia, such as increased renal parenchymal echogenicity, thinning of the renal cortex, the presence of cortical cysts, and co-existing oligohydramnios should be noticed. Unfortunately, there is no reliable predictor of renal function in UPJHN cases. Unilateral hydronephrosis cases suggesting UPJHN are mostly followed up conservatively. However, the cases with bilateral involvement are still difficult to manage. Timing of delivery is also controversial

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

INVESTIGATION OF FACTORS AFFECTING THE SUCCESS RATES OF IN VITRO FERTILIZATION FOLLOWED BY A FAILED CYCLE

Objective: Our aim was to compare the success of the treatment modalities used in in vitro fertilization protocols by comparing the cycles of same patients with failed and successful results to determine the factors affecting the success

Evaluation of fetal subarachnoid space using transabdominal ultrasonography and normal values during pregnancy

Objectives: To determine the feasibility of evaluating the subarachnoid space by measuring two novel sonographic parameters in axial section using transabdominal ultrasound, in addition to the parameters previously defined in coronal section, and to construct a normal range for the subarachnoid space width in singleton healthy fetuses

The Giant Infantile Fibrosarcoma of Fetal Oropharynx and Anterior Neck

Introduction Infantile fibrosarcoma (IFS) usually arises in the extremities during the first 12 months of life and responds well to surgery. It is unusual in the oropharynx or the prenatal period.Case report:A giant solid mass was first detected in the oropharynx and anterior neck at 24 weeks of gestation by ultrasound and fetal MRI. An EXIT procedure with intrapartum intubation with appropriate supportive therapy was successful. The diagnosis of IFS was made postpartum, and the lesion responded to neoadjuvant chemotherapy.Conclusion:IFS may arise as early as 24 weeks of gestation. In this case, an EXIT procedure allowed postpartum diagnosis with subsequent treatment

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

Predictive value of ultrasound in prenatal diagnosis of hypospadias: Hints for accurate diagnosis

This study aims to assess the diagnostic accuracy of targeted ultrasound examination in prenatal diagnosis of hypospadias and to evaluate the predictive values of defined ultrasonographic findings of hypospadias. The cases diagnosed with hypospadias in our fetal medicine center were identified on an electronic database. The ultrasound reports, images and hospital records were reviewed retrospectively. The predictive value of prenatal ultrasound diagnosis and the predictive values of each sonographic finding were assessed according to the postnatal clinical examinations. Thirty-nine cases were diagnosed with hypospadias on ultrasound during the 6 years. Nine fetuses with missing postnatal examination records were excluded. Twentytwo of the remaining fetuses had their prenatal diagnosis of hypospadias confirmed in postnatal examinations, indicating a 73.3% positive predictive value. Normal external genitalia was detected in postnatal examinations of three fetuses. Five fetuses were diagnosed with other external genital abnormalities, including micropenis (n=2), clitoromegaly (n=2), and buried penis with bifid scrotum (n=1) in postnatal examinations. The positive predictive value of prenatal ultrasound for any external genital abnormality was 90%. Although the positive predictive value of ultrasound for genital anomalies is satisfying, it is slightly lower for the specific diagnosis of hypospadias. This reflects overlapping ultrasound findings of different external genitalia anomalies. Standardized, systematic evaluation of the internal and external genital organs, karyotyping and genetic sex determination are essential to achieve a precise prenatal diagnosis of hypospadias

Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center.

Purpose We aimed to present the fetal ultrasound, cytogenetic/molecular testing and postmortem or postnatal clinical fndings of cases with 22q11.2DS diagnosed prenatally. Materials and methods A retrospective medical record review of 48 prenatal cases diagnosed with 22q11.2DS were evaluated in our institution. Detailed ultrasound examination was performed on all fetuses. Postmortem and postnatal examinations were evaluated. The microdeletions were detected by karyotyping or microarray, then confrmed by FISH. Descriptive statistical analysis was performed. Results Demographic data of 48 prenatal cases including 46 singletons and 1 dichorionic diamniotic twin pregnancy were evaluated. The most common extracardiac anomaly was skeletal system anomalies (25%), in which PEV was the most frequent one (20.8%). Polyhydramnios rate was detected as 31%, in 6.6% as an isolated fnding. Microdeletion has been detected by karyotyping in 13 cases (13/47, 27.7%) (including 2 unbalanced translocations), by FISH in 28 cases (28/48, 58.3%), by microarray/a-CGH testing in 7 cases. Microarray analysis showed that in one case with unbalanced translocation had two consecutive deletions; one was proximal and other one distal to critical region and not encompassing TBX1 gene but CRKL and LZTR1 genes. Conclusion The current study demonstrates the whole spectrum of atypical phenotypic and genotypic variations of 22q11.2DS in the largest prenatal case series reported to date. Therefore, diferential diagnosis should be considered not solely in CHD, but also in the presence of isolated clubfeet and polyhydramnios. Establishing the diagnosis in the prenatal period may allow a postnatal multidisciplinary approach, as well as afect the actual prevalence of the disease

The effects of early or late multifetal reduction procedure on perinatal outcomes in multiple pregnancies reduced to twins or singletons: A single tertiary center experience

Objective: The aim of the study was to compare the effect of early or late fetal reduction (FR) procedures on perinatal outcomes in multiple pregnancies reduced to twins or singletons