Isolated levocardia with situs inversus without cardiac abnormality in fetus: prenatal diagnosis and management

Objective Isolated levocardia is a situs abnormality that the heart is in the normal levo position, but the abdominal viscera are in dextro position. Most cases are accompanied by structural heart anomalies. In this case, we aimed to present a fetus with isolated levocardia without cardiac abnormality. Case(s) The mother was referred to our clinic with a suspicion of fetal dextrocardia at 22 weeks of gestation. When detailed examination was planned by ultrasonography isolated levocardia was detected in fetus. There were no cardiac abnormalities in fetal echocardiography. Fetus was followed up until delivery and newborn was examined again at postnatal period. No problem was detected until the age of 2 years. Conclusion Fetal situs should be assessed by ultrasonography in all pregnant women

The comparison of the perinatal outcomes in monochorionic twin pregnancies with and without selective intrauterine growth restriction

Objective Both fetuses may be affected negatively as a result of the non-equal share of the placenta and vascular anastomoses in monochorionic pregnancies with selective intrauterine growth restriction (sIUGR). In our study, we aimed to investigate the perinatal outcomes of both larger and smaller fetuses in monochorionic pregnancies with and without sIUGR (non-sIUGR) separately. Methods A total of 196 monochorionic twin pregnancies were evaluated retrospectively between January 2013 and January 2019. The cases were grouped as sIUGR and non-sIUGR pregnancies. The pregnancies with sIUGR were also separated into sub-groups as the cases with normal umbilical flow pattern and the cases with abnormal umbilical flow pattern. The perinatal outcomes were investigated separately between the groups for larger and smaller fetuses. Results Of 153 monochorionic pregnancies included in the study, 17.6% (n=27) were sIUGR cases and 82.4% (n=126) were non-sIUGR cases. While the umbilical artery flow pattern was normal in 59.3% (n=16) of the pregnancies which developed sIUGR, 40.7% (n=11) of them had abnormal umbilical artery flow pattern. The preeclampsia rate was found significantly higher in sIUGR pregnancies than non-sIUGR pregnancies (25.9% vs. 11.1%, p=0.042). The need for intensive care for both larger and smaller newborns was significantly higher in sIUGR pregnancies compared to non-sIUGR pregnancies (p<0.001). Three (11.1%) of newborns in sIUGR pregnancies passed away during neonatal period. All of the newborns that passed away were the smaller newborns from sIUGR pregnancies with abnormal umbilical artery flow pattern. Conclusion The pregnancies with selective intrauterine growth restriction (sIUGR) are more associated with high risks in terms of perinatal outcomes compared to the pregnancies with non-sIUGR. In pregnancies developing sIUGR, the risk increases for larger fetus as well as smaller fetus. More prospective studies are needed to investigate whether this increased risk in the pregnancies with sIUGR is associated with prematurity which is more common or is a result of sIUGR

Advantages and limitations of QF-PCR analysis in invasive prenatal genetic diagnosis: a tertiary center experience from Turkey

Objective: The aim of this study was to investigate the success and reliability of QF-PCR analysis in detecting chromosomal abnormalities and to determine its advantages and limitations. Methods: Patients who underwent karyotype and QF-PCR analysis as a prenatal invasive diagnostic test in a tertiary center were retrospectively analyzed. Invasive genetic test indications, ultrasonographic fetal screening reports, karyotype and QF-PCR analysis results of the patients were obtained from the electronic data system. Karyotypes were classified as normal, common aneuploidies (trisomies 21, 18, 13, and sex chromosome aneuploidies) and other aneuploidies. QF-PCR analysis and karyotype results were compared for inconsistency. Results: A total of 426 cases (41 [9.6%] chorionic villus sampling, 339 [79.6%] amniocentesis and 46 [10.8%] cordocentesis) were included in the study. The most common indication for prenatal invasive diagnostic testing was fetal structural anomalies (36.7%). Aneuploidy was detected in 61 (14.3%) of the fetuses. Fifty-nine (96.7%) of 61 fetuses with aneuploidy were common aneuploidies. The sensitivity and specificity of the QF-PCR analysis in detecting common aneuploidies was 100%. QF-PCR analysis was indicative if not diagnostic in all fetuses with mosaic trisomy or sex chromosome aneuploidies. Conclusion: QF-PCR analysis is a rapid, robust, and reliable test for the prenatal detection of common aneuploidies. Although QF-PCR analysis has high sensitivity and specificity in detecting common aneuploidies, it should be used for rapid preliminary information and the result of karyotype analysis should be awaited for important clinical decisions

Importance of isolated minor findings on fetal ultrasound examinations in the diagnosis of Down syndrome

Objective: To investigate the importance of prenatal ultrasound in the detection of Down syndrome by evaluating ultrasonographic and minor ultrasonographic findings in fetuses with this aneuploidy. Methods: Patients who were reported to have trisomy 21 as a result of karyotype analysis performed by cordocentesis, amniocentesis, or chorionic villus biopsy materials and who underwent ultrasound scan before diagnosis between 18 and 26 weeks of gestation by the Maternal Fetal Medicine Department between 2013 and 2020 were included in the study group. Results: The results of 132 of 4525 (2.9%) invasive procedures were reported to have trisomy 21 and ultrasound scans of each fetus were performed in our department. The mean gestational age at the ultrasound scans was 19.2±3.8 (SD) weeks. At least one major structural anomaly or minor ultrasonographic finding was detected in 99.2% of all fetuses. Major structural anomalies were present in 80 (60.6%) fetuses. In fetuses with major structural anomalies, cardiac defects (53.7%) were the most detected anomalies. No ultrasound findings could be detected in one (0.8%) of the remaining 52 patients, and only isolated minor findings were detected in 51 (38.6%) fetuses. More than half (60.7%) of these fetuses had a single minor finding. The most common isolated single minor finding was nuchal fold thickness in 13 (41.9%) fetuses followed by aberrant right subclavian artery in six (19.3%) fetuses. Conclusion: Down syndrome displays a large variety of different sonographic findings on fetal ultrasound. Although major structural anomalies and multiple minor findings are generally considered more important, the presence of any isolated minor marker may be the only detectable finding of Down syndrome

Analysis of the process leading to termination of pregnancy in the third trimester

Objective: To evaluate fetal anomalies and processes leading to termination of pregnancy in the third trimester. Methods: The study includes all cases who underwent termination of pregnancy after 28 weeks of gestation due to fetal anomalies between 2017 and 2022. Results: Forty four of third trimester terminations were carried out in our clinic due to fetal anomalies incompatible with life or associated with severe sequelae. Structural anomalies including 35 (79.5%) cases were the most common reason of terminations followed by chromosomal or genetic abnormalities in 8 (18.2%) cases and intrauterine cytomegalovirus infection in 1 (2.3%) case. The processes leading to the third trimester termination were evaluated by dividing 44 patients into 5 groups. (1) Delayed diagnosis due to inadequate prenatal care (25 patients, 56.8%); (2) patients diagnosed with late-onset findings (5 patients, 11.4%); (3) patients with abnormal findings in prenatal care or history but delayed diagnosis (5 patients, 11.4%); (4) patients with abnormal findings requiring further evaluation (4 patients, 9.0%); (5) patients with a definitive diagnosis but latency in the decision of family for termination of pregnancy (5 patients, 11.4%). Conclusion: Termination of pregnancy in the third trimester has an important role in countries where unfollowed pregnancies are common and access to health services is poor due to low socio-economic status

Significance of Maternal Serum Folate and Vitamin B12 levels with Factor V leiden, Factor II g.20210G>A, MTHFR C667T and MTHFR A1298C variations in Anencephaly

Amaç Multifaktöryel anensefali etyolojisi halen tam olarak bilinmeyen durumlardan biridir. Etiyolojinin daha iyi anlaşılması için bilinen faktörler olan Folat ve vitamin B12 düzeyleri yanı sıra Faktör V Leiden, Faktör II g.20210G>A, MTHFR c.667C>T and MTHFR c.1298A>C polimorfizmlerini anensefalili gebeliği olan ve sağlıklı gebeliği olan annelerde inceleyerek karşılaştırmayı amaçladık. Materyal ve Metot Çalışmamızda 10 anensefalili gebeliği olan anne ve 32 sağlıklı gebede serum folat ve B12 vitamin düzeyleri yanı sıra Real-Time PCR ile Faktör V Leiden, Faktör II G20210A, MTHFR C667T ve MTHFR A1298C polimorfizmlerinin genotipleri incelenerek karşılaştırıldı. Sonuç Çalışmamızda serum folat düzeyi ve MTHFR A1298C genotipi açısından gruplar arasında anlamlı fark saptandı. Serum B12 vitamin düzeyi, FVL, FII G20210A ve MTHFR C667T varyasyonları anensefalili gebe ve kontrollerin karşılaştırmasında anlamlı farklılık olmadığı belirlendi. Tartışma Anensefali ve nöral tüp defekti gelişiminde anne folat düzeylerinin düşük olması bilinen bir faktördür. MTHFR gen polimorfizmleri ile ilişkili çalışmalar da bulunmaktadır. Biz de çalışmamızda folat eksikliğinin etiyolojide önemli rol oynadığını; ancak diğer faktörlerin anlamlı fark yaratmadığını belirledik. Ayrıca, anensefali için daha fazla araştırmaya gerek olduğu kanaatindeyiz.Aim Exact etiology of multifactorial anencephaly is still unclear. For a better understanding of the etiology, we sought to determine serum levels of folate and vitamin B12 as well as genetic variations including Factor V Leiden, Factor II g.20210G>A, MTHFR c.667C>T and MTHFR c.1298A>C in pregnant Turkish women with fetal anencephaly, and healthy pregnant women to point out significant differences. Material-Methods We compared the concentration of serum folate, vitamin B12 and genotype related with Factor V Leiden (FVL), Factor II (FII) G20210A, MTHFR C667T and MTHFR A1298C variations in 10 pregnant mothers with fetal anencephaly, and 32 mothers with healthy pregnancies. Gene polymorphisms were genotyped using Real-Time PCR. Results We found a significant difference in serum folate concentrations and MTHFR A1298C genotypes between groups. However, serum B12 vitamin concentrations and Factor V Leiden, Factor II G20210A, and MTHFR C667T genotypes were not significantly different in mothers with fetal anencephaly, compared to controls. Conclusion Low maternal folate level is a known factor in the development of anencephaly and neural tube defects. Studies indicating an association with MTHFR gene polymorphisms are also present. We have determined that the lack of folic acid plays an important role in the etiology of anencephaly, however other factors are not significant. We believe that more research is needed as the etiology of anencephaly is still not fully understood

Does asymptomatic/uncomplicated SARS-CoV-2 infection during pregnancy increase the risk of spontaneous preterm birth?

Objectives: The aim of this study was to analyze the perinatal outcomes of asymptomatic/uncomplicated SARS-CoV-2 infection during pregnancy and the relationship between gestational age at the time of infection and spontaneous preterm birth (PTB). Material and methods: This was a retrospective cohort study. The study population included pregnant women who were 19–45 years old and who had been admitted to a Research and Training Hospital for singleton birth delivery. Women who had contracted SARS-CoV-2 during their pregnancy (n = 102) were compared to those who were not infected (n = 378) for the development of spontaneous PTB and other perinatal outcomes. The factors associated with spontaneous PTB were analyzed through univariate and multivariate methods. Results: Spontaneous PTB developed in 22.5% of the pregnant women with a history of SARS-CoV-2 infection and in 5.3% without a history of the infection (p &lt; 0.001). The multivariate model determined that compared to the non-infected women, the OR of spontaneous PTB among those who had contracted the virus in the first, second, and the third trimesters were 9.13 (p &lt; 0.001), 1.85 (p = 0.292) and 7.09 (p &lt; 0.001), respectively. Pregnancy cholestasis (3.9% vs 0.5%; p = 0.020) and placental abruption (3.9% vs 0.5%; p = 0.040) were significantly higher in cases with a history of SARS-CoV-2 infection compared to the non-infected women. Conclusions: Asymptomatic or uncomplicated SARS-CoV-2 infection during pregnancy increases the risk of spontaneous PTB. This risk is higher particularly among pregnant women who develop the infection in the first and the third trimesters

Anticonvulsive and neuroprotective effects of MK-801 on experimental epilepsy model with intrahippocampal kainic acid in rats and against brain damage

Yoğun klinik ve deneysel çalışmalara karşın epilepsi patofizyolojisi günümüzde henüz tam aydınlatılmış değildir. Son zamanlarda yapılan deneysel çalışmalar ile, epileptik aktivitenin ve epileptik beyin hasarının oluşumunda "Eksitatör Amino Asid" adlı nörotransmitterlerin rol oynadığı ve bu amino asidlerin etkilerini azaltan farmakolojik ajanların ise yeni antikonvülsan ilaç olabilecekleri bildirilmiştir. Çalışmamızda, bir eksitatör amino asid antagonisti olan MK-801'in antiepileptik ve nöroprotektif etkisi, sıçanlarda intrahipokampal olarak verilen kainik asid ile oluşturulmuş epileptik model üzerinde incelenmiştir. MK-801 'in antikonvülsan etkisi, klinik ve elektrofizyolojik olarak, nöroprotektif etkisini de histopatolojik olarak değerlendirildi. MK-801 verilen (1 mg / kg dozunda kainik asitten 30 dk. önce) çal/şma grubundaki tüm sıçanların nöbet başlangıç süreleri (P< 0.05), nöbet skorları (p< 0.0001) ve EEG skorları (p< 0.001) ; kainik asid (2{ig/{i! intrahipokampal) verilen kontrol grubunun değerleriyle karşılaştırıldığında anlamlı olarak fark bulundu. Ayrıca MK-801'in, kainik asidin verilmesinden sonra oluşan nöron kaybını ve glial hücre proliferasyonunu azalttığı gözlendi. Bu çalışma MK-801'in antikonvülsan ve nöroprotektif etkisini desteklemektedir. Ancak bu konu ile ilgili kapsamlı çalışmalara gereksinim vardır

Comparison of maternal and neonatal outcomes in women with HELLP syndrome and women with severe preeclampsia without HELLP syndrome

Objective: To examine and to compare postpartum maternal and neonatal complications and morbidities in women with HELLP syndrome (HELLP group) and women with severe preeclampsia without HELLP syndrome (severe preeclamptic group)

Perioperative Complications in Abdominal Sacrocolpopexy, Sacrospinous Ligament Fixation and Prolift Procedures

Background: Pelvic organ prolapse is an important problem for women. To overcome this issue, different operational technics are in use, such as abdominal sacrocolpopexy, sacrospinous fixation, and the total Prolift procedure. Aims: This study assessed perioperative complications in abdominal sacrocolpopexy, sacrospinous fixation, and the total Prolift procedure. Study Design: Retrospective comparative study. Methods: Perioperative complications were defined as any complication occurring during surgery or the first 6 weeks postoperatively. Forty-five patients underwent abdominal procedures, 60 patients underwent sacrospinous fixation, and 43 patients underwent the total Prolift procedure. Results: In the abdominal group, one bladder injury, four hemorrhages, and three wound dehiscences occurred. In the sacrospinous group, one rectal injury and one postoperative vault infection occurred. In the Prolift group, one bladder injury and one hemorrhage occurred. Minor complications were more frequent in the abdominal group than the others. The operating time and hospital stay of the abdominal group were significantly longer than the others. The Prolift procedure had less operating time and hospital stay than other procedures. Conclusion: The total Prolift may be a novel alternative for apical prolapse with low perioperative morbidities and complications