Association of antenatal evaluations with postmortem and genetic findings in the series of fetal osteogenesis imperfecta.

INTRODUCTION: Counseling Osteogenesis Imperfecta (OI) pregnancies is challenging due to the wide range of onsets and clinical severities, from perinatal lethality to milder forms detected later in life. METHODS: Thirty-eight individuals from 36 families were diagnosed with OI through prenatal ultrasonography and/or postmortem clinical and radiographic findings. Genetic analysis was conducted on 26 genes associated with OI in these subjects that emerged over the past 20 years, while some genes were examined progressively, all 26 genes were examined in the group where no pathogenic variations were detected. RESULTS: Prenatal and postnatal observations both consistently showed short limbs in 97%, followed by bowing of the long bones in 89%. Among 32 evaluated cases, all exhibited cranial hypomineralization. Fractures were found in 29 (76%) cases, with multiple bones involved in 18 of them. Genetic associations were disclosed in 27 families with 22 (81%) autosomal dominant and five (19%) autosomal recessive forms, revealing 25 variants in six genes (COL1A1, COL1A2, CREB3L1, P3H1, FKBP10, and IFITM5), including nine novels. Postmortem radiological examination showed variability in intra-family expression of CREBL3 and P3H1-related OI. CONCLUSION: Prenatal diagnosis for distinguishing OI and its subtypes relies on factors such as family history, timing, ultrasound, genetic and postmortem evaluation.

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.

Multiple congenital contractures (MCC) due to fetal akinesia manifest across a broad spectrum of diseases, ranging from mild distal arthrogryposis to lethal fetal akinesia deformation sequence. We hereby present a series of 26 fetuses displaying severe MCC phenotypes from 18 families and describe detailed prenatal ultrasound findings, postmortem clinical evaluations, and genetic investigations. Most common prenatal findings were abnormal facial profile (65%), central nervous system abnormalities (62%), polyhydramnios (50%), increased nuchal translucency (50%), and fetal hydrops (35%). Postmortem examinations unveiled additional anomalies including facial dysmorphisms, dysplastic skeletal changes, ichthyosis, multiple pterygia, and myopathy, allowing preliminary diagnosis of particular Mendelian disorders in multiple patients. Evaluation of the parents revealed maternal grip myotonia in one family. By exome sequencing and targeted testing, we identified causative variants in ACTC1, CHST14, COG6, DMPK, DOK7, HSPG2, KLHL7, KLHL40, KIAA1109, NEB, PSAT1, RAPSN, USP14, and WASHC5 in 15 families, and one patient with a plausible diagnosis associated with biallelic NEB variants. Three patients received a dual diagnosis. Pathogenic alterations in newly discovered genes or in previously known genes recently linked to new MCC phenotypes were observed in 44% of the cohort. Our results provide new insights into the clinical and molecular landscape of lethal MCC phenotypes.

Predictive value of ultrasound in prenatal diagnosis of hypospadias: hints for accurate diagnosis.

OBJECTIVES: This study aims to assess the diagnostic accuracy of targeted ultrasound examination in prenatal diagnosis of hypospadias and to evaluate the predictive values of defined ultrasonographic findings of hypospadias. METHODS: The cases diagnosed with hypospadias in our fetal medicine center were identified on an electronic database. The ultrasound reports, images and hospital records were reviewed retrospectively. The predictive value of prenatal ultrasound diagnosis and the predictive values of each sonographic finding were assessed according to the postnatal clinical examinations. RESULTS: Thirty-nine cases were diagnosed with hypospadias on ultrasound during the 6 years. Nine fetuses with missing postnatal examination records were excluded. Twentytwo of the remaining fetuses had their prenatal diagnosis of hypospadias confirmed in postnatal examinations, indicating a 73.3 % positive predictive value. Normal external genitalia was detected in postnatal examinations of three fetuses. Five fetuses were diagnosed with other external genital abnormalities, including micropenis (n=2), clitoromegaly (n=2), and buried penis with bifid scrotum (n=1) in postnatal examinations. The positive predictive value of prenatal ultrasound for any external genital abnormality was 90 %. CONCLUSIONS: Although the positive predictive value of ultrasound for genital anomalies is satisfying, it is slightly lower for the specific diagnosis of hypospadias. This reflects overlapping ultrasound findings of different external genitalia anomalies. Standardized, systematic evaluation of the internal and external genital organs, karyotyping and genetic sex determination are essential to achieve a precise prenatal diagnosis of hypospadias.

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.

OBJECTIVE: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement. METHODS: We retrospectively collected clinical information and molecular diagnosis data of 22 patients with Joubert syndrome from multiple facilities. Clinical exome or whole-exome sequencing were performed to identify causal variations in genes. RESULTS: The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, HYLS1, KATNIP, KIAA0586, KIF7, RPGRIP1L, including some previously unreported variants in these genes. Multi-systemic organ involvement was observed in nine (40%) patients, with the eye being the most common, including Leber's congenital amaurosis, ptosis, and optic nerve coloboma. Portal hypertension and esophageal varices as liver and polycystic kidney disease and nephronophthisis as kidney involvement was encountered in our patients. The HYLS1 gene, which commonly causes hydrolethalus syndrome 1, was also associated with Joubert syndrome in one of our patients. A mild phenotype with hypophyseal hormone deficiencies without the classical molar tooth sign was observed with compound heterozygous and likely pathogenic variants not reported before in the KATNIP gene. CONCLUSION: Some rare variants that display prominent genetic heterogeneity with variable severity are first reported in our patients. In our study of 22 Joubert syndrome patients, CPLANE1 is the most affected gene, and Joubert syndrome as a ciliopathy is possible without a classical molar tooth sign, like in the KATNIP gene-affected patients.

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.

Clinical, Cytogenetic and Molecular Cytogenetic Outcomes of Cell-Free DNA Testing for Rare Chromosomal Anomalies.

The scope of cell-free DNA (cfDNA) testing was expanded to the genome, which allowed screening for rare chromosome anomalies (RCAs). Since the efficiency of the test for RCAs remains below the common aneuploidies, there is a debate on the usage of expanded tests. This study focuses on the confirmatory and follow-up data of cases with positive cfDNA testing for RCAs and cases with screen-negative results in a series of 912 consecutive cases that underwent invasive testing following cfDNA testing. Chorion villus sampling (CVS), amniocentesis (AS), fetal blood sampling, and term placenta samples were investigated using classical cytogenetic and molecular cytogenetic techniques. Out of 593 screen-positive results, 504 (85%) were for common aneuploidies, 40 (6.7%) for rare autosomal trisomies (RATs), and 49 (8.3%) for structural chromosome anomalies (SAs). Of the screen-positives for RATs, 20 cases were evaluated only in fetal tissue, and confined placental mosaicism (CPM) could not be excluded. Among cases with definitive results (n = 20), the rates of true positives, placental mosaics, and false positives were 35%, 45%, and 10%, respectively. Among screen-positives for SAs, 32.7% were true positives. The confirmation rate was higher for duplications than deletions (58.3% vs. 29.4%). The rate of chromosomal abnormality was 10.9% in the group of 256 screen-negatives with pathological ultrasound findings. This study provides further data to assess the efficiency of expanded cfDNA testing for RATs and SAs. The test efficiency for cfDNA seems to be higher for duplications than for deletions, which is evidence of the role of expert ultrasound in identifying pregnancies at increased risk for chromosome anomalies, even in pregnancies with screen-negatives. Furthermore, we discussed the efficiency of CVS vs. AC in screen-positives for RATs.

Intertwin membrane cord insertion in dichorionic twin pregnancy: The description and comparison with other umbilical cord insertion types.

PURPOSE: Multiple pregnancy is associated with high perinatal mortality and morbidity. Abnormal cord insertions more common in twin pregnancies compared to singleton pregnancies and velamentous cord insertion is related with poor pregnancy outcomes. There is no definition of velamentous cord insertion into the intertwine membrane between two fetuses in the literature. METHODS: In our single-center cross-sectional study, monochorionic-diamniotic and dichorionic-diamniotic twins who were admitted to our clinic between 18 + 0 and 23 + 6 weeks of pregnancy were enrolled in this study. We evaluated fetal, placental, and umbilical cord abnormalities in addition to fetal growth restrictions and weight discordance by ultrasonography. RESULTS: Although abnormal cord insertion frequency was significantly higher in monochorionic twins (p = 0.003), intertwin membrane cord insertion could only occur in dichorionic twins. In cases with cord insertion anomaly; FGR and weight discordance was observed more frequently (p < 0.001 and p = 0.003, respectively). Weight discordance, the presence of abnormal cord insertion and abnormal UAD were found as statistically significant predictors of FGR (p < 0.001, p = 0.021, and p < 0.001, respectively). CONCLUSION: Intertwin membrane insertion is a novel umbilical cord insertion abnormality. The presence of abnormal umbilical cord insertion is a risk factor for poor pregnancy outcomes in twin pregnancies.

The effects of early or late multifetal reduction procedure on perinatal outcomes in multiple pregnancies reduced to twins or singletons: A single tertiary center experience.

OBJECTIVE: The aim of the study was to compare the effect of early or late fetal reduction (FR) procedures on perinatal outcomes in multiple pregnancies reduced to twins or singletons. STUDY DESIGN: This retrospective cohort study consisted of data from a single tertiary center between January 2013 and December 2020 and included 103 women with multiple pregnancies between 8 and 14 gestational weeks and who underwent FR by transabdominal approach. Late FR was defined as 11-13 6/7 gestational weeks (Group L) and early FR was defined as 8-10 6/7 gestational weeks (Group E) in the study. All pregnancies with FR were named Group S (Single) if reduced to singletons and Group T (Twin) if reduced to twin pregnancies. RESULTS: Thirty four percent (n = 35) were reduced to single pregnancy, the remaining 66% of these cases (n = 68) were reduced to twin pregnancy. The overall survival rate was 90%.When the cases were examined in terms of pregnancy complications, it was observed that the PPROM rate and preterm labor rate in the Group T were statistically significantly higher than the Group S (p = 0.015 and p < 0.001, respectively). When comparing the overall survival results between Group S and Group T, it was found that the overall survival of Group S was statistically significantly better (p < 0.001). When Group E and Group L were compared in terms of their pregnancy course and neonatal outcomes, no statistically significant difference was found between them. No statistically significant difference was found between the complication rates in the first week after the procedure (p < 0.05). Neonatal intensive care need was found at a rate of 31% in those with Group E, while this rate was found as 39% in Group L, and this difference was also not statistically significant (p = 0.480). When the preterm labor rate was compared between these two groups, there was no statistically significant difference in all three subgroups (<32nd, <34th, and <37th gestational weeks). CONCLUSION: When FR to singleton is required for fetal or maternal reasons, it should be discussed with the parents that the risk of fetal loss is similar to FR to twins, but the effect on perinatal survival is more favorable than expected.

Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center.

PURPOSE: We aimed to present the fetal ultrasound, cytogenetic/molecular testing and postmortem or postnatal clinical findings of cases with 22q11.2DS diagnosed prenatally. MATERIALS AND METHODS: A retrospective medical record review of 48 prenatal cases diagnosed with 22q11.2DS were evaluated in our institution. Detailed ultrasound examination was performed on all fetuses. Postmortem and postnatal examinations were evaluated. The microdeletions were detected by karyotyping or microarray, then confirmed by FISH. Descriptive statistical analysis was performed. RESULTS: Demographic data of 48 prenatal cases including 46 singletons and 1 dichorionic diamniotic twin pregnancy were evaluated. The most common extracardiac anomaly was skeletal system anomalies (25%), in which PEV was the most frequent one (20.8%). Polyhydramnios rate was detected as 31%, in 6.6% as an isolated finding. Microdeletion has been detected by karyotyping in 13 cases (13/47, 27.7%) (including 2 unbalanced translocations), by FISH in 28 cases (28/48, 58.3%), by microarray/a-CGH testing in 7 cases. Microarray analysis showed that in one case with unbalanced translocation had two consecutive deletions; one was proximal and other one distal to critical region and not encompassing TBX1 gene but CRKL and LZTR1 genes. CONCLUSION: The current study demonstrates the whole spectrum of atypical phenotypic and genotypic variations of 22q11.2DS in the largest prenatal case series reported to date. Therefore, differential diagnosis should be considered not solely in CHD, but also in the presence of isolated clubfeet and polyhydramnios. Establishing the diagnosis in the prenatal period may allow a postnatal multidisciplinary approach, as well as affect the actual prevalence of the disease.

Prenatal diagnosis and outcome of unilateral multicystic kidney.

We reviewed the records of 144 patients. The mean gestational age at first US diagnosis was 27.5 ± 4.3 weeks. An anomaly of the contralateral kidney was detected in 25% of cases. An extrarenal anomaly was detected in 13.8%. Karyotype analysis was performed in 16.6% of cases and revealed trisomy 18 in 2 cases with extrarenal defects. Karyotype analysis was normal in all the patients who had isolated multicystic dysplastic kidney (MCDK). The diagnostic accuracy of prenatal ultrasound was 92.2%. Contralateral kidney anomaly was detected 33.9% of patients, and half of these were vesicoureteral reflux. Antihypertensive therapy was required in 2.6% of cases. Nephrectomy was performed in 8%, and partial or total involution of MCDK was achieved in 33.9% of patients. MCDK can be accurately diagnosed by prenatal sonography, and prognosis depends on extrarenal and contralateral renal abnormalities. In isolated cases, require of surgery is rare, and serial follow-up is suggested to determine involution.Impact statementWhat is already known on this subject? Multicystic dysplastic kidney (MCDK) is one of the most renal anomalies and is associated with numerous renal and extrarenal abnormalities. It can lead to severe consequences in the neonatal period.What do the results of this study add? The accuracy of prenatal ultrasonography is excellent for detecting MCDK. In isolated unilateral cases, chromosomal aberrations are low, and the majority of them involute spontaneously. A periodic follow-up of the contralateral kidney is mandatory due to an increased risk of an anomaly. Genital anomaly risk is increased in males.What are the implications of these findings for clinical practice and/or further research? Detailed evaluation and follow-up of the contralateral kidney are crucial for counselling in isolated cases. Karyotype analysis in isolated unilateral MCDK is debateable. Postnatal prognosis is encountering, and the majority of patients have no requirement of surgery.

Prenatal ultrasonographic findings of adhesion-membrane complex and its relation with obstetric history.

Background: Intrauterine adhesions are usually detected incidentally during routine obstetric ultrasound and remain one of the reasons for concern for both clinicians and patients.Objective: Our objective was to document ultrasonographic findings of intrauterine adhesions detected in obstetric ultrasound and to investigate their correlation with obstetric history.Study Design: Detailed scans were performed in 685 singleton pregnancies at 16-24 weeks' gestation. Intrauterine adhesion was referred to as "adhesion-membrane complex'' (AMC). Patients were divided into three groups: Group I consisted of patients with ≥1 therapeutic D&C associated with pregnancy but with neither vaginal delivery nor Cesarean section (CS). Group II consisted of patients with ≥1 CS but with neither vaginal delivery nor therapeutic D&C associated with pregnancy. Group III consisted of patients who were in their first pregnancy. Ultrasonographic properties of AMC and relationship between AMCs and obstetric history were investigated.Results: The incidence of AMC in Group I (n = 108), Group II (n = 189), and Group III (n = 388) was 11.1% (n = 12), 1.05% (n = 2) and 1.03% (n = 4), respectively. Positive history of D&C is associated with significantly increased risk of AMC (risk ratio:10.778; 95% confidence interval: 3.55-32.75). Also, previous history of CS is not associated with significantly increased risk of AMC (risk ratio: 1.026; 95% confidence interval: 0.19-5.55). The AMCs were located in the upper half in 7 (38,9%) and in the lower half of the uterus in 11 (61.1%) patients. The midpoint thickness of the AMC was between 0.75 and 5.10 mm (mean: 2.65 mm; SD ± 1.2). The width of the AMC was between 2 and 52 mm (mean: 20.98; SD ± 15.3), the heights of the AMCs were 5-60 mm (mean: 33.27 mm; SD ±17.0). In ten of the AMC positive patients (55.6%) a thick and bulbous free end and in eleven of them (61.1%) a "Y image" was detected. The mean gestational age at birth was 37.4 (SD ± 3.3) weeks in 18 patients with AMC. There were no intrauterine fetal or perinatal deaths. None of the neonates had congenital abnormalities.Conclusions: Intrauterine adhesions detected in obstetric ultrasonography were redefined and renamed in a more comprehensible manner. Our results pointed out that while the positive history of D&C is associated with significantly increased risk of AMC, previous history of CS is not associated with significantly increased risk of AMC.

Prenatal diagnosis of complete penoscrotal transposition with normal scrotum: Two case reports and review of the literature.

Complete penoscrotal transposition is an extremely rare congenital anomaly and is usually associated with other urinary system abnormalities. Prenatal diagnosis is feasible by demonstrating perineal anatomy and its relation with scrotum and phallus. We describe two prenatal cases presenting with oligohydramniosis and megacystis due to lower urinary tract obstruction. Postnatal diagnosis was confirmed in both cases. Considering the dismal perinatal outcome, an accurate prenatal diagnosis is required for counseling the parents and preparing for postnatal care.

Follow-Up Studies of cf-DNA Testing from 101 Consecutive Fetuses and Related Ultrasound Findings.

PURPOSE: To determine the true- and false-positive rates of cf-DNA testing in a cohort of patients from tertiary care centers and assess the impact of ultrasound examinations in pregnancy management. MATERIALS AND METHODS: Clinical, cytogenetic and ultrasound data of 101 consecutive fetuses were collected retrospectively. Cases were classified into five groups according to the ultrasound findings. Karyotyping, interphase FISH and microarray techniques were used for follow-up studies. RESULTS: The overall false-positive rate was low for trisomy 21 (T21, 8.2 %), but significantly higher for trisomy 18 (T18, 40 %), monosomy X (MX, 50 %), X/Y trisomies (57.1 %), trisomy 13 (T13, 71.4 %). While single cases of trisomy 16, trisomy 22 and 8q duplication positive in cf-DNA were confirmed, 3 microdeletions (1p36 and two 22q11.2) were not. About 75 % of confirmed T21's and all confirmed T18 and T13 had major markers and/or malformations. While false-negative cases (two T21, one T18 and one T13) were identified due to abnormal ultrasound findings, all false-positive cases were normal sonographically. Ultrasound findings of confirmed trisomy 16, 22, dup8q, monosomy X and other X/Y aneuploidies were unspecific. Term placenta studies were helpful to assess the role of confined mosaicism in unconfirmed cf-DNA test results. A vanishing twin has been observed as the likely cause of one false-positive T18. CONCLUSION: Our study contributes clinical data on discrepant cf-DNA testing results, corroborates the need for confirmational invasive testing and underscores the benefit of expert ultrasound in the prevention of fatal diagnostic errors.

Antenatally detected ureterocele: Associated anomalies and postnatal prognosis.

OBJECTIVE: We purposed to review prenatal diagnoses of ureterocele, to determine the sonographic findings and additional abnormalities, and to illustrate the pregnancy outcomes of these patients. MATERIAL AND METHODS: We reviewed the records of 24 patients with the diagnosis of ureterocele in our referral center between January 2010-March 2017. Prenatal sonographic findings, antenatal course, and postnatal follow-up were obtained. RESULTS: The mean gestational age at first US diagnosis was 24.5 ± 2.9 weeks. 13 (54.1%) of fetuses were female, and 11 (45.9%) were male. Ureterocele was associated with the duplex kidney in 17 (70.8%), MCDK in 5 (20.8%) and hydronephrosis with a single system in 1 (4.2%) and pelvic kidney in 1 (4.2%) fetuses. Postnatal follow-up was achieved in 22 of 24 (91.6%) cases, and mean follow-up interval was 56 ± 14.2. Months. The diagnosis of ureterocele was confirmed in 22 (91.6%) cases postnatally. 15 of 22 (68%) cases were classified as extravesical ureterocele, and 7 (32%) cases were intravesical ureterocele. Postnatal confirmation of duplex kidney achieved in 16 of 17 (94.1%) patients. 17 (77.2%) patients were required surgical intervention, and 5 (22.8%) cases were managed conservatively. 15 of 16 (93.7%) cases who were diagnosed duplex kidney underwent surgery however 2 of 5 (40%) cases which were confirmed MCDK required an operation. Cystoscopic ureterocele incision was the initial approach for the surgical management and performed all of the cases which required surgery. It was curative in 10 of 17 (58.8%) patients and 7 (41.2%) cases needed to further operations. Ureteroselectomy and common-sheath ureteroneocystostomy was performed in 5 (29.1%) cases and. 2 (%11.7%) cases underwent partial nephrectomy. CONCLUSION: Ureterocele can be accurately diagnosed by prenatal sonography, and it is a significant clue for the diagnosis of a duplex kidney. Postnatal prognosis depends on associated anomaly and presence of reflux and upper pole function.

Utilization of neurosonography for evaluation of the corpus callosum malformations in the era of fetal magnetic resonance imaging.

AIM: We evaluated the ability of fetal neurosonography and magnetic resonance imaging (MRI) to asses callosal anomalies (CA) and associated cranial malformations. We also aimed to determine the long-term prognosis of the cases. METHODS: Thirty-six cases of CA diagnosed combined with neurosonography and MRI between January 2012 and October 2017 were retrospectively reviewed. RESULTS: Seventeen of 36 fetuses were diagnosed complete agenesis of corpus callosum (CACC) (47.2%), 9 had partial agenesis of corpus callosum (PACC) (25%) and 10 was dysgenesis of the corpus callosum (DCC) (27.2%) at ultrasonography (US) examination. Fetal MRI reported 16 of cases as CACC (44.4%), 11 PACC (30.5%) and nine (25%) DCC. The overall consistency between neurosonography and MRI in the definition of CA were 91% of cases. Sulcation anomalies were present in 9 cases in the US (25%) and 11 cases in MRI (30.4%). Seven of cases showed posterior fossa abnormalities in the US (19.4%) and eight cases in MRI (22.1%). Neonatal MRI added new findings to fetal MRI and neurosonography including grade-1 intraventricular hemorrhage and periventricular leukomalacia in two cases (12.5%). Eighteen cases were terminated (50%), 17 cases were followed up and mean follow up interval was 39 ± 5.1 months. The neurologic outcome was abnormal in seven (41.7%) patients. Presence of associated brain anomalies worsened the prognosis. CONCLUSION: Fetal neurosonography has a comparable performance with MRI in the diagnosis of CA and associated anomalies. It should be used in collaboration with MRI to achieve accurate diagnosis which is crucial for counseling.

Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum.

BACKGROUND: Ectopia cordis (EC) is a congenital anomaly associated with heart defects and extracardiac malformations. OBJECTIVES: We determined the various presentations of EC diagnosed in our center between 2010 and 2017. RESULTS: Seven fetuses from six pregnancies with EC were detected, five during the first trimester. Three were from multiple pregnancies, and both twins had EC in one monochorionic-monoamniotic pregnancy. Abdominal wall defects were detected in six fetuses. Kyphoscoliosis, cephalocele, clubfoot and short umbilical cord were other abnormalities. Five fetuses were terminated, one fetus died in utero, and one baby died on day two of life. Postnatal evaluation performed in all cases additionally detected cleft lips/palates in two fetuses and tetralogy of Fallot in one. CONCLUSION: Outcome is poor for these fetuses, EC can occur in a multiple pregnancy, most of the abnormalities can be identified in the first trimester and fetopsy continues to add information to the intrauterine diagnosis.

Pregnancy in liver transplant recipients: A single center outcomes.

AIM: Liver transplantation (LT) is the only effective treatment for the end-stage liver disease. Although pregnancy after LT is considered to be safe, these patients are difficult to manage for obstetricians. In this study, we aimed to determine maternal and fetal outcomes in pregnancies after LT. METHODS: We conducted a retrospective review of liver transplant recipients who had received prenatal care and delivered pregnancy at Istanbul University Istanbul Medical Faculty, Department of Obstetrics and Gynecology January 2010 and January 2017. RESULTS: A total of eight pregnancies were identified during the study period. The mean age of the patients at the time of LT was 25.6 ± 5.3 years (range 19-36 years), and the mean age at conception was 30.1 ± 5.2 years (range 25-41 years). The mean interval between transplantation and conception was 54.2 ± 18.6 months (range 24-82 months). There was no a miscarriage or a stillbirth was observed in any of patients. Mean birth week was 37.2 ± 2.1 weeks and mean birthweight was 2852 ± 562 g (range 2150-3470 g). Three of eight deliveries (37.5%) occurred before 37 gestational weeks. Preeclampsia was detected in one patient, one pregnancy was complicated by intrauterine growth retardation and one case with gestational diabetes mellitus. Mean postnatal follow-up period was 3.2 ± 2.4 years (range 1-7 years) and all of the babies were healthy. Graft rejection occurred in one patient after delivery. CONCLUSION: More favorable pregnancy outcomes can be achieved with a multidisciplinary team and satisfactory counseling is mandatory either preconception and through the pregnancy to reduce maternal-fetal risks.

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 Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.

Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case. In both of the cases, ocular findings were accompanied by intracranial findings, including severe hydrocephalus, an abnormal gyral pattern, and cerebellar hypoplasia, suggesting the diagnosis of Walker-Warburg syndrome. We also present a review of the literature regarding the prenatal diagnosis of this malformation.