Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.

We report on 314 fetal cases from 297 unrelated families with skeletal dysplasia evaluated in the postmortem period from 2000 to 2017 at a single clinical genetics center in Istanbul, Turkey. The definite diagnostic yield was 40% during the prenatal period, while it reached 74.5% when combined with postmortem clinical and radiological evaluation. Molecular analyses were performed in 25.5% (n: 76) of families, and 21 novel variants were identified. Classification according to International Skeletal Dysplasia Society-2019 revision revealed limb hypoplasia-reduction defects group (39) as the leading one, 24.5%, then followed by FGFR3 chondrodysplasias, osteogenesis imperfecta, and decreased mineralization and polydactyly-syndactyly-triphalangism groups 13.6, 11.1, and 8.9%, respectively. The inheritance pattern was autosomal recessive in 54% and autosomal dominant in 42.6% of index cases. The overall consanguinity rate of the cohort was 33%. The high prevalence of ultrarare diseases along with two or more unrelated autosomal recessive entities running in the same family was noteworthy. This study highlights the pivotal role of postmortem evaluation by an experienced clinical geneticist to achieve a high diagnostic yield in fetal skeletal dysplasia cohorts. The cohort is not only a representation of the spectrum of skeletal dysplasias in a population with a high consanguinity rate but also provides an ideal research group to work on to identify the unknowns of early fetal life.

The effect of middle cerebral artery peak systolic velocity on prognosis in early and late-onset fetal growth restriction.

OBJECTIVES: We aim to investigate the utility of middle cerebral artery peak systolic velocity (MCA PSV) Doppler in determining the perinatal mortality and morbidity in serial Doppler measurements from the time of diagnosis to the delivery of complicated cases with fetal growth restriction (FGR). METHODS: At 24-38 weeks of gestation, 65 pregnant women diagnosed with FGR were included in the study. The fetal biometry measurements, MCA pulsatility index (PI), and MCA PSV Doppler evaluation of the cases formed at the diagnosis and the delivery were recorded. Gestational weeks, birth weights, APGAR scores, cord pH values, NICU (neonatal intensive care unit) admission, NICU duration of stay, and perinatal morbidity parameters such as RDS (respiratory distress syndrome), BPD (bronchopulmonary dysplasia), NEC (necrotizing enterocolitis), sepsis and perinatal mortality were compared. The patients were divided into two groups: early and late-onset fetal growth restriction. Perinatal morbidity and mortality were accepted as adverse perinatal outcomes. RESULTS: MCA PSV above the 95th percentile at the diagnosis and delivery time was seen at a significantly higher rate with adverse perinatal outcomes. CONCLUSIONS: This study shows that evaluating MCA PSV with Doppler can be a helpful diagnostic method for early diagnosis of restriction and hypoxic fetuses. Also, it may be used in clinics as a noninvasive method to predict neonatal prognosis.

Should isolated aberrant right subclavian artery be ignored in the antenatal period? A management dilemma

Objective: To investigate the frequency and types of chromosomal abnormalities in fetuses with the aberrant right subclavian artery (ARSA) and to evaluate its association with other ultrasonographic findings. Materials and Methods: In all, 11,666 fetal anatomic surveys were performed between March 2014 and March 2020. The cases diagnosed as ARSA were examined. Accompanying ultrasound findings and chromosomal abnormalities were collected. Results: ARSA was detected in 140 fetuses (1.2%). The ARSA appeared isolated in 47.1% (66/140) of cases and the remaining 52.9% (74/140) of cases were associated with cardiac or extracardiac malformations and soft markers. Chromosomal abnormalities were detected in 17.8% (25/140) of all cases. Trisomy 21 was the most common chromosomal anomaly with a prevalence of 11.4% (16/140). The corresponding rate was 3% (2/66) and 18.9% (14/74) for isolated and non-isolated ARSA, respectively. DiGeorge syndrome was detected in 3% (n=2) and Turner syndrome was in 3% (n=2) of the isolated group. ARSA was not an isolated finding in any of the 4 fetuses with trisomy 18. Conclusion: Isolated ARSA may be the only antenatal predictor of trisomy 21 or other chromosomal anomalies, including DiGeorge or Turner syndrome. Hence, visualization of the right subclavian artery should be a part of the fetal anatomic survey and genetic analysis should be recommended even in the absence of associated findings.

The influence of the systematic birth preparation program on childbirth satisfaction.

PURPOSE: The primary purpose of this study was to assess the influence of a systematic multidisciplinary birth preparation program on satisfaction with childbirth experience. A secondary aim was to detect factors that affect the childbirth satisfaction. METHODS: In this prospective study, 77 pregnant women who completed the 4-month birth preparation program (Group 1) and 75 women in the control group (Group 2) were asked to fill out two questionnaires with face-to-face interviews within 48 h after labor. One of the questionnaires was the translated form of Salmon's Item List German (SIL-Ger), and SIL-Ger scores ≥70 was accepted as a satisfactory experience. RESULTS: There was no statistically significant difference between the groups in terms of sociocultural and intrapartum characteristics, and obstetric outcome parameters. The women who received antenatal education experienced significantly less pain (p = 0.01), had a better communication with midwife or obstetrician during delivery (p = 0.001), and participated more actively in decision-making before, during, and after childbirth (p < 0.001 for all). SIL score was significantly higher in Group 1 (105.7 ± 2.2 vs 80 ± 2.5, p < 0.01), and significantly more women had a SIL score ≥70 (96.1 vs 73.3%, p < 0.01). In multivariate logistic regression model, attending the birth preparation program and the level of pain perceived during labor were found to have a significant effect on the birth satisfaction. CONCLUSION: Systematic birth preparation program improves satisfaction with childbirth experience by enabling women to communicate better with healthcare providers and to participate in decision-making during labor, as well as by decreasing the perception of labor pain.

Comparison of perinatal outcomes of selective termination in dichorionic twin pregnancies performed at different gestational ages.

OBJECTIVE: To determine the perinatal outcomes of selective termination in dichorionic twin pregnancies discordant for major but non-lethal fetal anomalies performed at different gestational ages. METHODS: Thirty-one dichorionic twin pregnancies that underwent selective termination for discordant major but non-lethal fetal anomalies between January 2004 and February 2015 were retrospectively reviewed. The patients were grouped into three, according to the gestational age at which selective termination of pregnancies was performed; Group 1 (15-19 weeks), Group 2 (20-24 weeks) and Group 3 (30-33 weeks). Perinatal outcomes in all the three groups were reviewed and analyzed. RESULTS: The overall live birth, term birth and pregnancy loss rate were 93.6%, 54.8% and 9.6%, respectively. The overall live birth rate was 66.6% in Group 1, this rate was 100% in Group 2 and Group 3 (p = 0.01). The rate of pregnancy loss was significantly higher in Group 1 (p = 0.01). The overall preterm delivery rate was 38.7%. While the overall preterm delivery rate was significantly higher in Group 3 (p = 0.04), the rate of extremely and very preterm birth was significantly lower (p = 0.03). CONCLUSION: Late selective feticide performed during the third trimester of pregnancy seems to be a safe approach and can be offered as an alternative method to reduce the total pregnancy loss and extremely and early pre-term birth rates.

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. METHODS: Healthy pregnant women between 20 and 29 weeks were scanned using transabdominal ultrasound. Four variables were measured for the evaluation of subarachnoid space width; sinocortical width and anterior craniocortical width in coronal plane, and lateral and posterior craniocortical width in axial plane. RESULT: The data of 154 patients were recorded. SCW could be measured in 87.6 % (135) of fetuses, while the same figure was 77.9 % (120), 96.1 % (151) and 98.1 % (148) for anterior, lateral and posterolateral CCW, respectively. The SCW and anterior CCW did not display a significant correlation with gestational age and head circumference. The mean of SCW was 1.55 ± 0.41 mm with a range of 0.85-3.87 mm. The mean anterior CCW was 1.63 ± 0.39 mm with a range of 0.85-2.82 mm. A linear regression line was plotted between gestational age and lateral CCW (r = 0.707; p < 0.0001) and posterolateral CCW (r = 0.437; p < 0.0001), and nomograms for these parameters are constructed. CONCLUSION: This study presents a novel approach for the in utero evaluation of the subarachnoid space with two measurements in axial plane using transabdominal ultrasound. The nomograms will be helpful when there is a suspicion of subarachnoid space dilatation during routine cranial scan.

Prenatal ultrasonographic diagnosis of generalized arterial calcification of infancy.

A healthy 19-year-old nulliparous pregnant woman was referred to our clinic because of fetal pericardial effusion and ascites. The sonographic examination performed at 28 weeks' gestation revealed scalp edema, severe skin edema, bilateral hydrocele, ascites, and pleural and pericardial effusion. Fetal echocardiographic examination showed that both ventricles were dilated with severely depressed contractility. The aortic annulus, ascending aorta, aortic arch, descending aorta, common iliac arteries, main pulmonary artery, tricuspid valve, and mitral chordae tendinae were hyperechogenic. Right ventricular outflow tract was narrow with decreased blood flow. There was tricuspid and mitral valve regurgitation and tricuspid valve stenosis. On the basis of these findings, we made the diagnosis of generalized arterial calcification, which is characterized by extensive calcification of internal elastic lamina and intimal proliferation of medium-sized and large arteries. This diagnosis was confirmed histologically after the termination of pregnancy.

Bipolar cord coagulation in the management of complicated monochorionic twin pregnancies.

AIM: To report our experience in selective termination of monochorionic twin pregnancies with bipolar cord coagulation and to analyze the pregnancy outcomes and complications based on the indication of the procedure. METHODS: This is a retrospective study of 71 complicated monochorionic pregnancies treated with bipolar cord coagulation between August 2006 and March 2013. RESULTS: The rates of live birth and survival up to 28 days after birth were 73.2% (52/71) and 63.4% (45/71), respectively. The highest rates of survival up to 28 days after birth were in the procedures with an indication of selective intrauterine growth restriction, while the lowest rates of survival were recorded with the indication of twin reversed arterial perfusion sequence and discordant anomaly. However, there were no statistically significant differences in the live birth and perinatal survival rates among the four different groups of indications. CONCLUSION: The survival rate of bipolar cord coagulation in complicated monochorionic pregnancies such as twin-to-twin transfusion syndrome, twin reversed arterial perfusion sequence, selective intrauterine growth restriction and discordant anomaly was 63% in our series.

Stage-related outcome after fetoscopic laser ablation in twin-to-twin transfusion syndrome.

AIM: To review the perinatal outcome of twin-to-twin transfusion syndrome (TTTS) treated with fetoscopic laser coagulation in a developing country with detailed analysis according to the stage of the syndrome. METHODS: This was a retrospective study of 85 TTTS cases treated with fetoscopic laser coagulation at the Fetal Diagnosis and Treatment Unit of Istanbul Faculty of Medicine between January 2006 and March 2013. RESULTS: The surgical failure rate was 5.8% (5/85). Among all the cases of the total cohort, only 1 fetus survived in 27 pregnancies (31.8%), and both fetuses survived in 22 pregnancies (25.9%). In 49 pregnancies (57.6%) at least one fetus survived at the end of the neonatal period. The overall survival and live birth rates were 41.8% (71/170) and 56.4% (96/170), respectively, and they significantly decreased as the stage of disease increased. Delivery occurred before 32 weeks of gestation in 54 (63.5%) pregnancies. Logistic regression analysis showed that gestational age at delivery was the only independent factor, and the risk of nonsurvival significantly decreased with increasing age. CONCLUSION: Based on our experience, the outcome of fetoscopic laser coagulation of the placental anastomoses for TTTS became worse as the Quintero stage of the disease advanced.

Role of subcutaneous closure in preventing wound complications after cesarean delivery with Pfannenstiel incision: a randomized clinical trial.

AIM: The aim of this study was to evaluate the role of suture closure of the subcutaneous tissue in preventing wound complications after cesarean section with a Pfannenstiel incision, and to investigate factors associated with wound complications. MATERIAL AND METHODS: Patients undergoing cesarean delivery were randomly assigned to either suture closure or non-closure of the subcutaneous tissue. The participants were invited to two follow-up examinations at the 1st and 4th postoperative weeks for the detection of wound complications. The two main outcomes were composite wound complication and superficial wound separation. Factors associated with wound complications were analyzed using multiple logistic regression. RESULTS: During the study period, a total of 361 patients (176 in the closure group, 185 in non-closure group) were analyzed. Composite wound complication occurred in 23.3% (41/176) of the closure group, and in 20% (37/185) of the non-closure group with no significant difference (P = 0.44). Wound separation occurred in 2.3% (4/176) of the closure group and 1.6% (3/185) of the non-closure group without any significant differences (P = 0.64). None of the factors were found to be associated with the rate of composite complication. The significant factors found to be associated with wound separation were subcutaneous tissue thickness of 4 cm or more (P = 0.01) and maternal diabetes mellitus (P = 0.01), however they lost their significance in multivariate analyses. CONCLUSION: The rate of wound complications, including superficial wound separation, did not differ according to the subcutaneous closure in cesarean delivery with Pfannenstiel incision. It is not possible to predict wound complications using previously defined clinical and operative risk factors, including subcutaneous tissue thickness.

Renal failure due to renal vein thrombosis in a fetus with growth restriction and thrombophilia.

We report a case of renal vein thrombosis diagnosed at 27 weeks of gestation in a dichorionic twin pregnancy. The left kidney of one fetus was hyperechoic and enlarged with echoic streaks following the direction of interlobular veins and the loss of corticomedullary differentiation. In the following weeks, left kidney became smaller and echoic, and Doppler examination showed no flow in both artery and vein. The right kidney had totally normal appearance in the beginning, but it became enlarged and hyperechoic, and progressed into a small echoic kidney with no flow in artery and vein. In the postnatal ultrasound examination, both kidneys appeared hyperechoic with no vascularization in the hilum region. There was thrombosis in arteries and veins of both kidneys, as well as in the inferior vena cava. The investigation for thrombophilia resulted with the combined presence of heterozygote mutation in factor V Leiden and prothrombin 20210 genes.

Is there an appropriate cutoff age for sampling the endometrium in premenopausal bleeding?

AIM: To determine a cutoff age for endometrial evaluation in premenopausal abnormal uterine bleeding (AUB). METHODS: Histopathology reports of endometrial sampling performed due to AUB in women aged 50 years or less were reviewed retrospectively. Histopathological findings were categorized into three groups as follows: group 1: hyperplasia without atypia + hyperplasia with atypia + malignancy, group 2: hyperplasia with atypia + malignancy, and group 3: malignancy. RESULTS: Data from 2,516 patients were analyzed for this study. Overall, 13.5% of patients had endometrial hyperplasia without atypia, 1% of patients had hyperplasia with atypia and 0.6% of patients had malignant disease. Logistic regression revealed a significant difference in the odds ratios of group 1 in the age ranges of 40-45 and 45-50 years compared with <40 years (p = 0.001 and p = 0.01, respectively). There were no significant differences between the age groups for the odds ratio of group 2 and group 3. CONCLUSION: There is no cutoff age for sampling the endometrium in order to detect hyperplasia with atypia and cancer in premenopausal women with AUB. Therefore, the management of AUB should be tailored to each patient regardless of age, incorporating all risk factors for malignant disease.

Significance of septa in first trimester increased nuchal translucency thickness.

PURPOSE: The objective of this study was to investigate perinatal outcome in cases of increased nuchal translucency (NT) with or without cystic hygroma (CH), and to determine whether first-trimester CH engenders a greater risk than simple increased NT. METHODS: In this retrospective study, data from singleton pregnancies in which fetal NT was found to be 3 mm or more at the 11 + 0 to 13 + 6 weeks scan were reviewed. Cases were classified into two groups, namely 'CH' and 'increased NT'. RESULTS: Of the 76 cases with increased NT, 30 (39.4 %) presented with CH. NT measurement was significantly higher in the CH group (7.25 vs. 3.5 mm, p < 0.001). Abnormal fetal karyotype, major chromosomal anomalies in chromosomally normal fetuses, and adverse outcome were significantly more frequent in the CH group as compared with the increased NT group (p = 0.019, p = 0.021, and p = 0.001, respectively). Regression analysis revealed that NT thickness was the only significant variable in the prediction of chromosomal defect and/or major congenital anomaly (OR 2.05, 95 % CI 1.23-3.42, p = 0.005). CONCLUSION: Cystic hygroma results in poorer outcome due to higher NT measurement, and the thickness of NT rather than the presence of septa should be the mainstay of prenatal counseling in cases of increased NT in the first trimester.

Female sexual function and associated factors during pregnancy.

AIM: The objective of this study was to assess the changes in female sexual function during pregnancy and to identify associated factors among Turkish population using a validated questionnaire. Furthermore, we aimed to examine Turkish pregnant women's beliefs regarding sexual activity and describe their source of information about sexuality during pregnancy. MATERIAL AND METHODS: In this cross-sectional study, healthy heterosexual pregnant women who had been living with their partners within the last four weeks were asked to complete two self-administered questionnaires, one of which was Female Sexual Function Index (FSFI). RESULTS: A significant association was found between the decrease in intercourse frequency and trimesters, as a decline in frequency was reported by 58.3%, 66.1% and 76.5% of women in each trimester, respectively (P = 0.01). Only the trimester of gestation and employment status were independent factors associated with the decline in sexual intercourse frequency during pregnancy. When the overall FSFI score were compared according to each trimester of pregnancy, there were no statistical significant differences between the first and second trimesters (P = 0.71). The overall FSFI score in the third trimester was found to be significantly lower than the overall scores in the first two trimesters (P < 0.001 for both). In linear regression analysis, overall FSFI scores were adversely affected by only being in the last trimester. 38.7% of women and 36.2% of male partners worried that sexual intercourse may harm the pregnancy. Among the total sample, only 23.8% of women discussed sexuality with the medical staff. CONCLUSION: The third trimester is the independent variable for both decreased sexual activity frequency and sexual function scores in pregnancy. Counseling about sexuality during pregnancy is not frequent in the clinical setting, but conversations about this topic should happen on a regular basis during prenatal care visits.

Intrauterine diagnosis and treatment of fetal goitrous hypothyroidism.

We present two cases of fetal hypothyroidism with goiter which were successfully diagnosed and treated in utero. In both cases, ultrasonographic examination demonstrated a bilobed solid anterior neck mass with increased vascularity compatible with enlarged thyroid gland. Fetal blood sampling revealed hypothyroidism. Intra-amniotic injection of L-thyroxin caused a reduction in thyroid gland size and enabled vaginal delivery without complication. In the first case, maternal thyroid hormone levels and autoantibodies were normal and the neonate had hypothyroidism suggesting the diagnosis of dyshormonogenesis. In the second case, the fetus had transient hypothyroidism, which resolved spontaneously after delivery. Maternal thyroid function tests and autoantibodies were normal and both the mother and neonate had normal urinary iodine, excluding the diagnosis of iodine deficiency or excess. Thus, we believe that transplacental transfer of undetermined factors might be a cause of transient congenital hypothyroidism. Also, we reviewed the literature and described controversial issues regarding the management of fetal goiter.

Single square hemostatic suture for postpartum hemorrhage secondary to uterine atony.

OBJECTIVE: The objective of this study is to describe a novel technique for the treatment of postpartum hemorrhage and evaluate its effectiveness and safety. METHODS: Single square hemostatic suture was performed for uterine atony when postpartum hemorrhage did not respond to medical therapy and bilateral uterine artery ligation. We retrospectively reviewed the data of 11 women and evaluated their endometrial cavity with hydrosonography after a follow-up period of 8-34 months. RESULTS: The single square hemostatic suture successfully stopped bleeding in all of the cases. Of the 11 women, 2 could not be traced. Menstruation started without delay in nine women. One of the women achieved pregnancy 25 months after surgery. The six women who underwent hydrosonography had an intact endometrial cavity. CONCLUSIONS: For women who desire future fertility, and when bilateral uterine artery ligation is not sufficient to control PPH, single square suturing may be used as an effective and safe procedure.

Influence of body mass index on clinicopathologic features, surgical morbidity and outcome in patients with endometrial cancer.

AIM: To examine the influence of obesity on the patient characteristics and clinicopathologic features of endometrial cancer, and to find how treatment and prognosis were affected by obesity in women with endometrial cancer. METHODS: The data of 370 consecutive women operated for endometrial cancer were retrospectively reviewed. Patients were divided into three categories as <25, 25-29.9 and ≥30 according to BMI. All patients underwent primary surgical treatment including total abdominal hysterectomy, bilateral oophorectomy and peritoneal cytology. Pelvic lymphadenectomy was carried out for all patients except for those with no myometrial invasion regardless of the tumor grade or for whom it was technically impossible. Paraaortic lymphadenectomy was performed when pre- and intraoperative assessments suggested non-endometrioid or grade 3 endometrioid cancer, >50 % myometrial invasion and cervical involvement. RESULTS: Patients with a BMI (body mass index) of <25 were significantly younger. Patients with a BMI of ≥30 were statistically less likely to have >50 % myometrial invasion and more likely to have stage I disease. There were no significant differences in the incidences of positive pelvic and paraaortic lymph nodes and tumor grades between the three groups. Also, there were no differences in surgery type, the mean of removed pelvic and paraaortic lymph node number, hospital stay, blood loss and complications between the groups. The patients with a BMI of ≥30 had significantly longer operating time. There were no statistically significant differences in recurrences, the median number of months at recurrence or the site of recurrence between the three groups, as well as the 5-year overall and disease-free survival of patients. Multivariate proportional hazard models identified stage III and IV disease as significant covariates for mortality rates, while stage III and IV disease, hypertension and pelvic irradiation were identified as significant covariates for recurrence rates. CONCLUSION: Positive peritoneal cytology, deep myometrial invasion and stage II-IV endometrial cancer were significantly more common in patients with a BMI of <25. There were no significant differences in tumor grade, surgical technique, surgical morbidity or adjuvant radiotherapy between the BMI groups. Recurrence and cancer-related mortality rates were not affected by the BMI.

Aortopulmonary septal defect with interrupted aortic arch in a monochorionic diamniotic twin pregnancy.

We report a monochorionic diamniotic twin pregnancy with prenatal diagnosis of aortopulmonary septal defect combined with type B interrupted aortic arch in one of the fetuses. The mother was referred for fetal echocardiography at 24 weeks' gestation due to suspected congenital heart disease. Prenatal echocardiography revealed a defect of 2.8 mm between the main pulmonary artery and the ascending aorta. The course of the ascending aorta was straight to the neck and head, and there was no continuity of the aortic arch after the origin of innominate and left common carotid arteries. Thus, aortopulmonary septal defect with type B interrupted aortic arch was suspected. Postnatal echocardiography confirmed the diagnosis, and surgical repair was performed on the 10th day after birth. The combination of aortopulmonary septal defect with type B interrupted aortic arch is a very rare condition that can be diagnosed by fetal echocardiographic examination in the second trimester of gestation. Prenatal diagnosis is important for the prognosis, since early surgical intervention is needed to prevent development of severe heart failure in the neonate.