Fetal Cytomegalovirus Infection in the Absence of Maternal Cytomegalovirus-IgM Seropositivity.

The aim of this study was to evaluate maternal serological status and fetal sonographic findings of Cytomegalovirus (CMV) infection. This is a retrospective study performed at Perinatology Department of Istanbul Basaksehir Çam and Sakura City Hospital. A computerized search was conducted to identify cases who underwent prenatal diagnosis of fetal CMV infection between September 2020 and December 2023. We identified nine cases with fetal CMV infection. The clinical data of the patients, gestational age at the time of diagnosis, serological, sonographic findings, and pregnancy outcomes were analyzed. A computer search of the database was made for the seroprevalance of CMV-IgM and CMV-IgG in our population. The CMV-IgM and IgG results of the 1235 patients who underwent CMV screening in the first trimester between September 2020 and December 2023 were evaluated. Fetal CMV infection was identified in nine patients. None of the 9 cases showed maternal CMV-IgM positivity. Seven of the 9 patients showed high IgG avidity index. Pregnant population had 98 % positivity for CMV-IgG. The evaluation of serologic tests for CMV is not straightforward in the second and third trimester. IgM and IgG avidity should be interpreted with caution in the second and third trimester. In the presence of ultrasound findings suggesting fetal CMV infection and CMV-IgG positivity, invasive diagnostic tests rather than serological test should be discussed with the patient, and non-primary infections should always be considered to minimize overlooked fetal cytomegalovirus infections and missed antiviral treatment opportunity.

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.

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.

Trends in fetal indications for termination of pregnancy between 2002 and 2010 at a tertiary referral centre.

OBJECTIVE: We reviewed the data of the termination of pregnancy (TOP) cases between 2002 and 2010 to evaluate the changes in fetal indications for both early and late TOPs in this period. MATERIAL AND METHODS: The data of 962 TOP cases were analysed in two groups according to the periods as in 2002-2006 and 2007-2010. The women were also subdivided into two categories according to their gestational age; <23 weeks' gestation (early termination) and ≥23 weeks' gestation (late termination). RESULTS: Four hundred and fifty-eight (47.6%) of TOPs were performed between 2002 and 2006 (Group 1) and 504 (52.3%) were performed between 2007 and 2010 (Group 2). The number of early (<23 weeks) and late (≥23 weeks) terminations were 583 (60.6%) and 379 (39.3%), respectively. The vast majority of anomalies were central nervous sytem malformations (51.8%). They were followed by multiple anomalies (10.2%) and chromosomal anomalies (9.4%). Chromosomal and cardiovascular system anomalies were significantly higher in 2007-2010 in comparison to 2002-2006 (p<0.0001 and p=0.002, respectively). There was no statistically significant difference between the fetal indications that led to early termination compared to those that led to late termination. CONCLUSION: The distribution of indications for TOP was influenced by the development in prenatal screening policy, resulting in a significant increase in terminations due to chromosomal and cardiovascular system anomalies. Cultural, educational, religious and legal factors cause differences in the indications for TOP as well as the gestational age that TOPS are performed.