Molecular analysis of 31 cases with fetal skeletal dysplasia.

OBJECTIVES: The aim of this study was to describe the prenatal ultrasound findings of fetuses with skeletal dysplasia and to evaluate the genetic variations by molecular genetic analysis. METHODS: Between August 1, 2018 and March 1, 2023, we conducted a retrospective case series at a tertiary referral center involving patients with fetal skeletal abnormalities. For cases referred for a possible diagnosis of fetal skeletal dysplasia, an ultrasound database and prenatal genetic counseling records were first searched. Terminated cases diagnosed with skeletal dysplasia by pathologic and radiologic findings and cases with skeletal dysplasia proven by postnatal clinical findings were included in the study. RESULTS: Between 2018 and 2023, a total of 64 cases were diagnosed as skeletal dysplasia based on radiologic findings, pathologic findings, and clinical features. The median week of the first ultrasound performed on patients is 19 0/7 weeks, while the median week of the ultrasound in which skeletal dysplasia is suspected is 21 3/7 weeks. Although micromelia was evaluated as a common feature in all cases, the most common concomitant anomaly was thoracic hypoplasia. Exome sequencing analysis was achieved in 31 (48 %) of cases. In 31 cases, in total of 35 pathogenic single gene mutations and 5 VUS (variants of uncertain significance) variants composing of 23 autosomal dominant, 10 autosomal recessive and 2 X linked recessive mutations were determined. CONCLUSIONS: Prenatal ultrasound findings can lead us to specific diagnoses, and with the appropriate molecular analysis method, a definitive diagnosis can be made without wasting time and money.

How reliably does prenatal echocardiography predict urgent balloon atrial septostomy in fetuses with d-TGA?

OBJECTIVE: To analyze the prenatal and postnatal outcomes of fetuses with d-TGA and to determine whether prenatal echocardiography may predict postnatal urgent BAS. STUDY DESIGN: A retrospective study of fetuses with d-TGA, for which fetal echocardiography was performed at our tertiary hospital from January 2018 to May 2023. We assessed the appearance of the septum primum and the FO flap in the four-chamber view as to whether the FO had a restrictive appearance during measurement of the diameter of the FO at its maximal angle to the attachment point. Color Doppler was used to detect VSDs and measure its diameter both in the four-chamber view and when visualizing the outlets of the great arteries in the sagittal section of the heart. RESULTS: During the study period, 64 fetuses were diagnosed with d-TGA, which was also confirmed postnatally. Of these, 16 fetuses were excluded due to additional cardiac anomalies or the inability to reach the mother. In total, 48 cases were included in this series. In our study, the FO diameter was significantly decreased in the urgent BAS group, compared with the fetuses without urgent BAS (5.1 mm vs 6.3 mm). A cut off of 6 mm for the FO diameter (sensitivity, 73.3 %; specificity, 72.2 %; area under the curve [AUC], 0.764) and 3.2 mm for the VSD diameter (sensitivity, 75 %; specificity, 75 %; AUC, 0.728) suggested urgent BAS. CONCLUSION: Prenatal echocardiography performed after 37 weeks of gestation in fetuses with d-TGA provides valuable information to estimate the need for postnatal urgent BAS that would prevent immediate life-threatening complications.

Fetal bradyarrhythmias: classification, monitoring and outcomes of 40 cases at a single center.

OBJECTIVES: To assess congenital fetal bradyarrhythmias with regard to etiological causes, features, risk factors, and prognosis. METHODS: This retrospective study involved fetuses with fetal bradyarrhythmias. All fetuses were evaluated by ultrasonography. Parental ECGs and family histories were obtained, and maternal autoantibodies were measured. Gestational age at diagnosis, fetal atrial and ventricular rates at presentation, type of bradyarrhythmias, the presence or absence of a congenital heart defect (CHD), fetal hydrops, fetal myocardial dysfunction, extra-cardiac abnormalities, maternal autoimmune diseases, maternal autoantibodies as well as prenatal treatment, and neonatal outcome were collected. RESULTS: Of the 40 fetuses included in the study, 11 had maternal rheumatologic disease, 16 had complex cardiac anomalies such as left and right isomerism. Fetuses with CHD significantly differed from those without CHD with increased rates of extra-cardiac anomalies, hydrops, fetal deaths and shorter survival after 28 days (p<0.05). Survival was significantly better in fetuses with maternal rheumatic disease as compared with those with no maternal rheumatic disease (p<0.05). Maternal anti-arrhythmic therapy was administered in 11 fetuses. In utero maternal treatment resulted in no significant difference in the course of arrhythmia or hydrops in fetuses with or without maternal rheumatic disease (p<0.05). In regression analysis, the absence of fetal hydrops was the only independent factor associated with survival (p=0.04). CONCLUSIONS: The course of bradyarrhythmias, along with survival, seems to be more favorable in fetuses with maternal rheumatic disease than in those with CHD, especially left and right isomerism. Hydrops was the sole independent factor associated with poor survival.

Comparison of Amniotic Fluid Cytokine Levels in Postterm and Term Pregnancy: a Prospective Study.

BACKGROUND: To evaluate amniotic fluid pro- and anti-inflammatory cytokine levels in women with postterm and term pregnancies in labor and not in labor. METHODS: The study involved three groups: postterm (Group 1, n = 29), term in labor (Group 2, n = 28), and control (Group 3, n = 30). All groups were compared with respect to age, gravidity, parity, obstetric history, gestation week, cervical dilatation and effacement, maternal serum C-reactive protein and white cell count, amniotic interleukin 4, 6, and 10 levels, birthweight, and cord blood pH. RESULTS: The amniotic fluid interleukin 10 level was 24.4 ± 8.8 pg/mL in the postterm group, 13.5 ± 5.1 pg/mL in the term in labor group, and 19.8 ± 5.4 pg/mL in the control group (p < 0.001). The amniotic fluid interleukin 4 level was 86.5 ± 57.7 pg/mL in the postterm group, 38.2 ± 29.2 pg/mL in the term in labor group, and 81.9 ± 68.4 pg/mL in the control group (p = 0.002). The amniotic fluid interleukin 6 level was 329 ± 135.1 pg/mL in the postterm group, 252.8 ± 138.7 pg/mL in the term in labor group, and 227.9 ± 114.4 pg/mL in the control group (p = 0.02). There was a positive correlation between gestational age and IL-10 levels (p < 0.05). CONCLUSIONS: Amniotic fluid IL-10 and IL-4 cytokine levels were increased in postterm pregnancy and they decreased with active labor.

The utility of cervical elastosonography in prediction of cervical insufficiency: cervical elastosonography and cervical insufficiency.

OBJECTIVE: To evaluate the utility of cervical elastosonography (ES) in prediction of cervical insufficiency (CI). METHODS: A total of 40 women, of which 20 who had previously received the diagnosis of CI and 20 healty women were included in the study. None of the women were pregnant. All subjects underwent sonographic evaluation including cervical length measurement and ES of uterine cervix. Adjacent muscular tissue was the reference point for elastosonography evaluation. Tissue strain ratio values were obtained from all the patients. RESULTS: The area around the internal cervical os of the group with CI was found to be significantly softer as compared to the control group (higher SR rate, p < 0.05). Furthermore, the outer parts of the cervix (sites A and D) were also found harder in the group that had CI (lower SR rate, p < 0.05). CONCLUSIONS: According to our knowledge, this is preliminary study to evaluate the predictive value of cervical ES in CI and we concluded that ES can be used as reliable method to determine CI but it is necessary to be studied in different cohort groups.