Diagnostic performance of two ultrasound techniques for the detection of cleft palate without cleft lip: axial-transverse and equal sign.

OBJECTIVE: There is no study that compares the diagnostic performance of ATV and ESV techniques in detecting cleft palate. We aimed to evaluate the diagnostic accuracy of two ultrasound techniques: axial-transverse (ATV) and "equal sign" view (ESV), in detecting fetal cleft palate without cleft lip. PATIENTS AND METHODS: This prospective study was conducted from March 2019 to January 2022 in a tertiary referral hospital. Secondary palates were assessed with ATV and ESV by two experienced fetal medicine specialists who were blinded to each other's ultrasound findings. Final diagnosis was done according to postnatal physical examination. The sensitivity and specificity of the two techniques were calculated. RESULTS: A total of 311 pregnancies which met the study criteria were evaluated. Postnatal physical examination showed that 13 (0.4%) neonates had cleft palate only (CPO). According to final diagnosis the sensitivity, specificity, positive predictive value and negative predictive value for ATV were 100%, 98.7%, 76.4%, 100% and 100% for ESV were 76.9%, 97.8%, 58.9% and 99%, respectively. CONCLUSIONS: ATV in 2D ultrasound provides higher sensitivity and specificity than ESV in detecting CPO.

Pregnancy outcomes in female cancer survivors after hematopoietic stem cell transplantation.

OBJECTIVE: This study was conducted to retrospectively investigate the pregnancy outcomes of patients who underwent stem cell transplantation (SCT). We also aimed at determining the reasons for avoiding pregnancy despite prolonged remission. PATIENTS AND METHODS: The study population consisted of patients who became pregnant after autologous or allogeneic SCT at Dr. Abdurrahman Yurtarslan Oncology Hospital between 2009 and 2020 for hematologic diseases. Data from 83 patients who had undergone allogeneic or autologous SCT were available for analysis. A total of 18 pregnancies occurred in 14 of these patients. To compare pregnancy outcomes, pregnant patients who received care at Etlik Zübeyde Hanim Maternity Hospital were selected as the control group. RESULTS: No pregnancy occurred in 69 of the patients whose data were analyzed. Of these 69 patients, 48 (69.6%) did not want to become pregnant. The most common reason for not wanting a pregnancy was due to the fact that the patient was not married [21 patients (30.4%)]. The pregnancy rate was higher in the HL group than in other hematologic malignancies [8 patients (57.1%)]. Twelve (85.7%) of the patients who became pregnant did so after autologous SCT and 2 (14.3%) after allogeneic SCT. The cumulative incidence of obstetric complications was higher in pregnancies after SCT than in the control group, and the prevalence of low birth weight was observed more frequently. CONCLUSIONS: Patients who became pregnant after SCT have a higher rate of pregnancy complications. However, these patients achieve similar live birth rates as the healthy population. Many patients have concerns about pregnancy and should be counseled appropriately.

Association between basal proteinuria levels and pregnancy outcomes in familial Mediterranean fever.

We aimed to investigate whether proteinuria in the first trimester of pregnancy in Familial Mediterranean fever (FMF) patients has an impact on pregnancy outcome and perinatal and neonatal outcome of pregnancies. A total of 66 pregnant with FMF were compared with healthy controls at the same gestational weeks. Patients with FMF had a higher antenatal hospitalisation rate (34.8% vs. 6.1%, respectively, p < .01) and higher rate of 2 or more miscarriages. FMF patients with or without obstetric complications also had a similar amount of 24-h urine proteinuria in the first trimester. Patients on colchicine therapy during pregnancy had more frequent attacks in pregnancy (59.3% vs. 18.2%, respectively, p: .012). The rates of preeclampsia, preterm delivery, foetal anomalies, small for gestation age neonates and primary caesarean rate were similar between groups. In conclusion; FMF had no significant impact on pregnancy. Neither attacks in pregnancy nor basal proteinuria were associated with adverse outcomes.Impact statementWhat is already known on this subject? Familial Mediterranean fever (FMF) is an autosomal recessive disease characterised by inflammation of the serosal, synovial and cutaneous tissues with recurrent attacks. One of the most serious complications of FMF is amyloidosis that can cause end-stage renal disease. Outcomes of FMF on pregnancy have been analysed by only few studies. Amyloidosis based on the initial renal function may adversely affect pregnancies. It has been reported that FMF patients with renal amyloidosis may suffer pregnancy complications to a greater extent.What do the results of this study add? There have been few studies on the correlation between FMF, proteinuria and pregnancy outcomes. In our study we found that FMF had no significant impact on pregnancy. Neither attacks in pregnancy nor basal proteinuria were associated with adverse outcomes.What are the implications of these findings for clinical practice and/or further research? Our study suggested that FMF had no relationship between pregnancy outcomes. However, our study population is relatively small. It will contribute to comprehensive studies involving a larger population. Future studies should be performed to investigate the effects of basal proteinuria in pregnancy with FMF.

A case with bilateral radio-ulnar synostosis.

Congenital radio-ulnar synostosis may be an isolated abnormality or additional abnormalities may accompany it. It may also be found as a part of well-known syndromes. We present a case with bilateral congenital radio-ulnar synostosis, speech delay, dimple on shoulders, café au lait spot and characteristic facial appearance. The proband has a brother with similar clinical findings with the exception of congenital radio-ulnar synostosis. We discuss the possible relationship between our case and previously described syndromes with congenital radio-ulnar synostosis, and distinct phenotypic features of the presented case.