Prenatal diagnosis of pulmonary arteriovenous malformations with a postnatal diagnosis of Osler-Weber-Rendu syndrome.

Hereditary Hemorrhagic Telangiectasia (HHT), commonly known as Osler-Weber-Rendu disease, is an autosomal dominant multisystemic vascular disease associated with approximately 70% of cases of pulmonary arteriovenous malformations (PAVMs). Prenatal cases of PAVMs typically present with pulmonary vein dilatation on ultrasonography. This study presents a prenatal diagnosis of PAVMs with enlarged right pulmonary vein, cardiomegaly, cystic-appearing areas in the right lung and subsequent confirmation of Osler-Weber-Rendu syndrome using autopsy and whole exom sequencing.

Evaluation of the type of fetal umblical-portal anastomosis in late-onset fetal growth restriction: A case-control study.

PURPOSE: To evaluate the type of umbilical-portal anastomosis in late-onset fetal growth restriction (LO-FGR) and appropriate for gestational age (AGA) fetuses. To investigate the impact of the type of umbilical-portal anastomosis on the adverse outcomes in LO-FGR. METHOD: This study observed 150 pregnancies with AGA fetuses and 62 pregnancies with fetuses with LO-FGR. In each case, the point of reference for measuring the abdominal circumference was established. The type of umbilical-portal anastomosis was evaluated as T-shaped, X-shaped, and H-shaped according to the shape of main portal vein and portal sinus. Incidences of the type of umbilical-portal anastomosis in AGA and LO-FGR fetuses were evaluated. RESULTS: T-shaped anastomosis was the most common (56.7%) in the AGA group and X-shaped (66.1%) in the LO-FGR group. In LO-FGR, T-shape anastomosis was significantly lower and X-shape anastomosis was significantly higher than AGA (p < 0.001). X-shaped anastomosis was associated with LO-FGR and the RR was 2.3 (95% CI 1.5-3.6; p < 0.001). Incidences of admission to NICU and emergency C/S for fetal distress were higher in fetuses with X -shaped anastomosis in the LO-FGR (p < 0.05). CONCLUSION: X-shaped umbilical-portal anastomosis have a prognostic significance in LO-FGR fetuses.

Prenatal Diagnosis of Crossed Pulmonary Arteries with a Postnatal Diagnosis of CHARGE Syndrome.

Introduction: Crossed pulmonary arteries (CPA) is an abnormality in which the ostium of the left pulmonary artery is located rightward and the ostium of the right pulmonary artery is leftward. Case report: We diagnosed a fetus with CPA prenatally. In fetal echocardiography, left pulmonary artery was seen to pass beneath the ductus and directing toward the left side and pulmonary artery bifurcation could not be demonstrated at the same plane. Postnatal echocardiography reconfirmed the presence of CPA. Bilateral choanal atresia, genital hypoplasia, hearing loss with facial and external ear asymmetry and psychomotor delay of the newborn led to clinical diagnosis of CHARGE syndrome and was confirmed by gene analysis. Discussion/Conclusion: CPA may be one of the cardiac anomalies in CHARGE syndrome.

Oxidative stress and antioxidant status in threatened preterm labor.

PURPOSE: The purpose of this study was the evaluation of total oxidant status (TOS), total antioxidant status (TAS), oxidative stress index (OSI) and superoxide dismutase (SOD) levels in women with threatened preterm labor (TPL) and also to compare the levels of these oxidative stress biomarkers of TPL pregnancies that had preterm and term deliveries. METHODS: This case-control study was conducted on 46 patients diagnosed with TPL and 47 healthy pregnant women matched for gestational age. Patients with threatened preterm labor were divided into two groups: true preterm birth (TPB) group (n = 16) and false preterm birth (FPB) group (n = 30) groups. Maternal serum SOD, TOS and TAS levels were measured by a spectrophotometric method using a commertial kit. OSI level for each patient was calculated by using the formula: (TOS (µmol·H2O2·equiv/L) × 100)/(TAS (µmol·Trolox·equiv/L)). RESULTS: The mean TAS levels of the TPB and FPB groups were significantly lower than those of the control group (0.96 ± 0.3 vs 1.36 ± 0.34, p1 < 0.001; 0.97 ± 0.22 vs 1.36 ± 0.34, p2 < 0.001, respectively). The mean SOD, TOS and OSI levels of the TPB and FPB groups were significantly higher than those of the control group (p < 0.001). There was no significant difference between the TPB and FPB groups for any oxidative stress biomarkers. CONCLUSION: The maternal serum oxidative stress biomarkers are increased in pregnancies with TPL. However, these are not effective in predicting preterm birth in pregnancies with TPL.

Fetal left brachiocephalic vein diameters in normal and growth restricted fetuses.

OBJECTIVES: To develop a nomogram for fetal left brachiocephalic vein (LBCV) diameters during a healthy pregnancy and to assess LBCV values in fetuses with fetal growth restriction (FGR). METHODS: This prospective observational study included 31 FGR pregnancies and 438 low-risk pregnancies. The low-risk group was used to determine the 5th, mean, and 95th percentiles for the LBCV between 12 and 39 weeks of gestation based on gestational age. On growth charts, LBCV measurements of FGR fetuses were displayed, and those above the gestational age 95th percentile were considered wide vein. Cerebroplacental ratio (CPR) and umbilical artery (UA), middle cerebral artery (MCA), and ductus venosus (DV) Doppler parameters were evaluated in FGR fetuses. RESULTS: LBCV diameter increased significantly with advancing gestational age. The LBCV diameters were above the 95th percentile in 23 of the 31 FGR fetuses (74.2%). All fetuses (15/15, 100%) with early-onset (EO)-FGR and 8 fetuses (8/16, 50%) with the late-onset (LO)-FGR had LBCV values above the 95th percentile (p<0.01). UA-PI was significantly higher and MCA-PI and CPR were significantly lower in LO-FGR fetuses with LBCV diameters above the 95th percentile (p<0.05). CONCLUSIONS: LBCV diameters of fetuses with FGR were significantly wider than the normal population. In the LO-FGR group, there was a good correlation between LBCV diameter and CPR.

Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey.

Gillessen-Kaesbach-Nishimura syndrome (GIKANIS) is a congenital disease of glycosylation (CDG) linked to the ALG9 gene. GIKANIS is a lethal disorder characterized by atypical facial features, generalized skeletal changes with shortening of the long bones with broad, round metaphyses, round ilia, and deficient ossification of the skull, cervical spine and pubic bones, and visceral abnormalities including polycystic kidneys and congenital cardiac defects. GIKANIS is caused by a homozygous splicing variant (c.1173 + 2 T > A) leading to skipping of exon 10, frameshift, and premature termination codon of the ALG9 gene. To our best knowledge, only two affected families with confirmed molecular analyses have been reported. We present an additional report on two siblings with the same mutation, emphasizing the prenatal ultrasonographic features. Their facial and skeletal manifestations recapitulated those previously reported. Ultrasonography revealed polycystic kidneys and unbalanced atrioventricular septal defect (AVSD) with transposition of the great arteries.

The Correlation of Cord Arterial Blood Gas Analysis Results and Apgar Scores in Term Infants Without Fetal Distress.

OBJECTIVE: This study aimed to evaluate the necessity of cord arterial blood gas analysis in cases without fetal distress and normal Apgar score. MATERIALS AND METHODS: The cord arterial blood gas analysis and the 1- and 5-minute Apgar scores data of 1438 cases were evaluated. Newborns with fetal distress, neonates requiring cardiopulmonary resuscitation in the delivery room, congenital anomalies, severe and moderate acidemia (pH ≤7.1 at cord arterial blood gas analysis), and pre- and post-term newborns are excluded. Following cord arterial blood gas analysis, threshold values were accepted as abnormal pH <7.2, base excess ≥ -6 mmol/L, lactate ≥ 5 mmol/L, bicarbonate < 18 mmol/L, and partial pressure of carbon dioxide ≥ 50 mmHg. We evaluated the correlation between cord arterial blood gas analysis and 1- and 5-minute Apgar scores. RESULTS: There was a significant correlation between both 1- and 5-minute Apgar scores and cord arterial blood gas analysis values such as pH, lactate, and partial pressure of carbon dioxide (P < .001). In addition, a significant correlation was found between the 5-minute Apgar score of <7 and some cord arterial blood gas analysis abnormal threshold values (pH, bicarbonate, base excess) (P < .001). We found that some patients with mild acidemia had 1- and 5-minute Apgar scores of ≥7 in 1.9% and 2% of cases, respectively. CONCLUSION: The 5-minute Apgar score of 7 or higher may not be sufficient to verify the wellbeing of a newborn. Relying only on the Apgar scores may create the risk of missing some newborns with mild metabolic acidosis. The necessity of routine cord arterial blood gas analysis should be considered in prospective studies even if there are no signs of fetal distress and Apgar score ≥7.

Perinatal outcomes of pregnancies with prenatally diagnosed foetal congenital heart disease.

We aimed to assess the types of prenatally diagnosed congenital heart disease (CHD) and their association with structural and chromosomal abnormalities and to evaluate the perinatal outcomes according to the type of the heart defect. We retrospectively reviewed 377 pregnancies with prenatally diagnosed CHD. The main outcome measure was to evaluate the pregnancy outcomes of CHD according to the type of the heart defect and associated structural or chromosomal abnormalities. Of 377 foetuses with major structural CHD, 214 (56.8%) were isolated, 49 (13%) had additional cardiac anomalies, 58 (15.4%) had extracardiac malformations with normal karyotype and 56 (14.9%) had chromosomal abnormalities. The most common chromosomal abnormality was trisomy 21 (55.4%). Prenatal detection of CHD allows early workup to identify chromosomal abnormalities and detailed anatomic evaluation of extracardiac malformations. Prognostication of each heart defect at diagnosis and facilitating patients with isolated surgically correctable CHD for targeted postnatal care is essential.IMPACT STATEMENTWhat is already known on this subject? CHD is the most common structural anomaly and is strongly associated with chromosomal anomalies and genetic syndromes.What do the results of this study add? Survival of the prenatally diagnosed CHD depends on the type and severity of the condition and coexisting extracardiac structural or chromosomal abnormalities.What are the implications of these findings for clinical practice and/or further research? Prenatal detection of CHD allows early workup to identify chromosomal abnormalities, detailed anatomic evaluation of extracardiac malformations and time to refer the parents to tertiary cardiac care centres and prepare for planned delivery, as well as to establish an appropriate perinatal and postnatal therapeutic plan.

Establishment of nomograms for fetal vermis and brainstem structures in the midsagittal cranial plane by ultrasonography.

PURPOSE: To construct nomograms for the fetal cerebellar vermis and brainstem structures obtainable from the midsagittal plane of the brain by two-dimensional sonography. METHODS: This was a prospective cross-sectional study of 434 healthy fetuses in low-risk singleton pregnancies between 18 and 35 gestational weeks. The following parameters were evaluated in the midsagittal cranial plane; cerebellar vermis anteroposterior diameter (APD), craniocaudal diameter (CCD), pons, midbrain and medulla oblongata APD and tectum length. The measurements were presented as growth charts according to gestational age. RESULTS: The mean ± SD, and 5%, 50%, 95% centile charts according to gestational age for vermis APD and CCD, pons, midbrain and medulla oblongata APD and tectum length were constructed. Pearson's correlation coefficients for vermis CCD and APD, pons, midbrain, medulla oblongata APD and tectum length by gestational week were 0.961, 0.929, 0.918, 0.761, 0.731 and 0.854, respectively (p < 0.0001). CONCLUSION: The reference data provided in the present study would be helpful in the prenatal diagnosis of challenging fetal conditions with involvement of the brainstem and cerebellum.

Evaluation of obstetric outcomes and prognostic factors in pregnancies with chronic kidney disease.

Objective: To evaluate the obstetric outcomes of pregnancies with chronic kidney disease (CKD) and to assess the prognostic factors on adverse obstetric outcomes. Methods: We retrospectively reviewed 101 singleton pregnancies with CKD. Obstetric outcomes were explored according to CKD stages. The composite adverse obstetric outcome was defined as at least one of stillbirth, neonatal death and delivery <34 weeks due to preeclampsia or fetal distress. Results: The incidences of preeclampsia, fetal growth restriction, perinatal mortality and composite adverse obstetric outcome were 40.5%, 26.7%, 14.8% and 37.6% respectively in pregnancies with CKD. Composite obstetric adverse outcome was significantly higher in pregnancies with CKD stage 4-5 than the other stages (p < 0.01). CKD stage 4-5 and baseline proteinuria >3 g/24 h were associated with composite obstetric adverse outcome (OR 43.2, p = 0.005 and OR 6.08, p = 0.01 respectively) comparing to stage 1 and proteinuria <0.5 g/24 h. Conclusion: Incidences of adverse obstetric outcomes are high even in early stages of CKD. CKD stage 4-5 and baseline proteinuria >3 g/24 h are poor prognostic factors.

Complete Hydatidiform Mole and Co-Existing Live Fetus after Intracytoplasmic Sperm Injection: A Case Report and Literature Review.

INTRODUCTION: Twin pregnancy with complete hydatidiform mole and co-existing fetus (CHMCF) is an uncommon obstetric entity and may occur after assisted reproductive technologies. These pregnancies are associated with severe complications for both mother and fetus and the management is challenging. Case Report: We report a twin pregnancy after intracytoplasmic sperm injection (ICSI) treatment with CHMCF which delivered at 26 gestation weeks due to severe preeclampsia. The 625g neonate survived without any complication. The woman had persistent trophoblastic disease with lung metastasis and was treated with single agent methotrexate. We also present a brief review of the literature about the outcomes of CHMCF after ICSI. Conclusion: CHMCF may occur after ICSI treatment. Pregnancies with CHMCF are associated with severe complications however under close follow-up successful outcomes could be achieved in such pregnancies.

Evaluation of obstetric outcomes and prognostic significance of graft function in kidney transplant recipient pregnancies.

Objective: To evaluate obstetric and kidney outcomes in pregnancies with kidney transplantation.Methods: We retrospectively reviewed 32 singleton pregnancies in kidney transplant recipients. Obstetric outcomes were explored according to the estimated glomerular filtration rates (eGFR) of patients.Results: The incidences of fetal growth restriction, preeclampsia were 18.8% and 34.4%, respectively. There was a significant negative correlation between first-trimester eGFR and perinatal mortality (r = -0.546, p = .0.001) and composite adverse obstetric outcome (r = -0.415, p = .0.018).Conclusion: The degree of transplanted kidney function impairment at the beginning of pregnancy is the major determinant of pregnancy outcome.

Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report.

Introduction: 5p deletion syndrome commonly known as cri du chat syndrome is a well-described syndrome in neonates with catlike cry, craniofacial dysmorphic features, abnormal dermatoglyphics, microcephaly and severe psychomotor and developmental delay.Case report: We report a case of 5p deletion syndrome diagnosed prenatally in association with mild ventriculomegaly, cerebellar hypoplasia, pontine hypoplasia, increased subarachnoid space and high suspicion of cortical hypoplasia with ultrasound, magnetic resonance imaging, and postmortem examination.Conclusion: Best to our knowledge, this is the first case that pontine hypoplasia and increased subarachnoid space have been demonstrated prenatally and confirmed by postnatal autopsy.