Ozgur Deren

Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia

We present an autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism, wide nasal bridge with hypoplasia of the ala nasi, and low-set, posteriorly rotated ears in two distinct families. Using Affymetrix 250K SNP array genotyping and homozygosity mapping, we mapped this clinical entity to chromosome 12q21. In one of the families, three siblings were affected, and CNV analysis of the critical region showed a homozygous 3.7 Mb deletion containing the ALX1 (CART1) gene, which encodes the aristaless-like homeobox 1 transcription factor. In the second family we identified a homozygous donor-splice-site mutation (c.531+1G > A) in the ALX1 gene, providing evidence that complete loss of function of ALX1 protein causes severe disruption of early craniofacial development. Unlike loss of its murine ortholog, loss of human ALX1 does not result in neural-tube defects; however, it does severely affect the orchestrated fusion between frontonasal, nasomedial, nasolateral, and maxillary processes during early-stage embryogenesis. This study further expands the spectrum of the recently recognized autosomal-recessive ALX-related FND phenotype in humans.

Perinatal outcome in adolescent pregnancies: a case-control study from a Turkish university hospital.

OBJECTIVE To determine whether adolescent pregnancy is associated with increased risk for adverse pregnancy outcome. STUDY DESIGN Retrospective case-control study which enrolled 1460 singleton adolescent pregnancies and 2980 controls, delivered at Hacettepe University Hospital between January 1990 and January 1998. RESULTS Significantly higher rate of perinatal and severe perinatal complications were noted in adolescents. The presence of historical risks, multiparity, young age and lack of prenatal care were significant predictors of these complications. Exclusion of them except for age, revealed comparable perinatal and severe perinatal complications in both groups. CONCLUSION Adolescent women who receive adequate prenatal care are at no greater risk of an adverse obstetric outcome than adult women of a similar sociodemographic background.

The value of middle cerebral artery systolic velocity for initial and subsequent management in fetal anemia

OBJECTIVE To evaluate the fetal middle cerebral artery Doppler waveform for the prediciton of anemia in the RhD-alloimmunized fetus. STUDY DESIGN Doppler velocimetry of the fetal middle cerebral artery peak systolic velocity was measured in 52 non-hydropic, RhD-alloimmunized fetuses who underwent 103 cordocenteses. Normal values were obtained from 70 normal cases. The peak systolic velocity values were expressed as multiples of the median (MoM) for gestation. Hemoglobin threshold for developing hydrops was developed from 22 RhD-alloimmunized hydropic fetuses and severe anemia was defined as Hb< or =0.60 MoM. The most efficient threshold values for the prediction of severe anemia in groups with no prior transfusion and those with prior transfusion were obtained by constructing ROC curves. RESULTS The mean gestational age (+/-S.D.) at cordocentesis was 28.0 +/- 4.6 weeks. Severe anemia was noted in 53 (51.5%) occasions. At a threshold middle cerebral artery peak systolic velocity value of > or =1.35 MoM, the sensitivity for severe anemia detection was 100% with a false-positive rate of 18%. In sub-analysis, in patients with one or more prior transfusion a sensitivity of 97% and a false-positive rate of 14% obtained at a threshold of > or =1.45 MoM. In patients with no previous transfusion the sensitivity for severe anemia was 100%, with a false-positive rate of 9.1% at a threshold value of > or =1.35 MoM. CONCLUSION The middle cerebral artery peak systolic velocity can be used to time both the initial diagnostic procedure and retransfusion.

Evaluation of periodontal pathogens in amniotic fluid and the role of periodontal disease in pre-term birth and low birth weight

Abstract Background. Pre-term birth and/or low birth weight (PTLBW) is a serious problem in developing countries. The absence of known risk factors in ∼ 50% of PTLBW cases has resulted in a continued search for other causes. The aim of this study was to examine the effect of periodontitis on pregnancy outcomes. Methods. Samples were taken from 50 pregnant women who underwent amniocentesis. Polymerase chain reaction was performed on amniotic fluid samples obtained during amniocentesis and on subgingival plaque samples to determine the presence of Porphyromonas gingivalis, Aggregatibacter actinomycetemcomitans, Treponema denticola, Tannerella forsythia, Fusobacterium nucleatum, Prevotella intermedia, Campylobacter rectus and Eikenella corrodens. Plaque index, gingival index, bleeding on probing, probing depth and clinical attachment level were evaluated. Medical records were obtained after birth. Results. Social and demographic variables were similar among the Gingivitis (G), Localized Periodontitis (LP) and Generalized Periodontitis (GP) groups. Four subjects gave birth to PTLBW neonates. Campylobacter rectus, T. forsythia, P. gingivalis and F. nucleatum were detected in the amniotic fluid and subgingival plaque samples of three patients who gave birth to PTLBW neonates. The amniotic fluid sample from the fourth patient was not positive for any of the tested pathogens. Conclusion. These findings suggest that the transmission of some periodontal pathogens from the oral cavity of the mother may cause adverse pregnancy outcomes. The results contribute to an understanding of the association between periodontal disease and PTLBW, but further studies are required to better clarify the possible relationship.

Prenatal prediction of neonatal outcome in the extremely low-birth-weight infant☆☆☆★

OBJECTIVE Our goal was to identify prenatally available parameters that correlate with neonatal outcome and could be used for predicting such outcome in the extremely low-birth-weight pregnancy. STUDY DESIGN From 1990 through 1995, obstetric and neonatal data of live-born nonanomalous singleton infants with birth weights between 400 and 1000 gm were reviewed. Only cases in which ultrasonographic biometry, including biparietal diameter, abdominal circumference, and femur length, was performed < or =3 days before delivery were included. Overall survival (defined as alive at discharge) and survival without specific severe neonatal morbidities (namely, retinopathy of prematurity [stage 3 or 4], intraventricular hemorrhage [grade 3 or 4], periventricular leukomalacia, chronic lung disease, and deafness) were ascertained. The best combination of prenatal parameters for the prediction of overall survival and survival without severe morbidity was determined by backward stepwise logistic regression analyses. RESULTS The most significant prenatal predictors of overall survival were the obstetric estimate of gestational age and the abdominal circumference (chi2 = 11.8036, p = 0.0006 and chi2 = 8.1862, p < 0.005, respectively). Survival without severe morbidity was also predicted by the same combination of parameters (chi2 = 21.9079, p = 0.0001 and chi2 = 6.538, p = 0.01, respectively). The estimated fetal weight was not a significant independent predictor of either category of outcome (chi2 = 0.1249, p = 0.72 and chi2 = 0.0361, p = 0.85, respectively). On the basis of the regression formulas, curves displaying the probabilities of overall survival and survival without severe morbidity with any combination of gestational age and abdominal circumference were developed. CONCLUSION The combination of gestational age and the abdominal circumference measurements appears to be superior to any combination that included estimated fetal weight data for predicting neonatal outcome in the neonates weighing < or =1000 gm. We developed a mechanism for predicting neonatal outcome in this weight category on the basis of prenatally available parameters. This information could prove useful for both parental counseling and obstetric decision making.

Prenatal diagnosis of ranula at 21 weeks of gestation

A fetal sublingual cystic lesion was diagnosed by routine prenatal ultrasonography at 21 weeks of gestation and followed up until term in a tertiary care center. Fetal growth was normal as was the amniotic fluid volume. Ex utero intrapartum treatment was performed and the cyst was aspirated to allow breathing and swallowing during planned Cesarean section. The cyst was totally excised when the newborn was 27 days of age and histological examination revealed a mucous cyst of the mouth floor. Copyright

The effect of steroids on the biophysical profile and Doppler indices of umbilical and middle cerebral arteries in healthy preterm fetuses

OBJECTIVE To examine the effect of antenatal steroids on the biophysical profile and the Doppler parameters of umbilical and middle cerebral arteries of healthy fetuses. STUDY DESIGN Thiry-five singleton pregnancies between the gestational ages of 28 and 34 weeks, who received two consecutive doses of betamethasone 24h apart to accelerate pulmonary maturation were prospectively studied. Fetal biophysical profile and Doppler assessment were performed at 0 (pre-steroid), 24, 48, 72, 96 and 120 h after the administration of first dose. We compared the percentage of the fetuses with biophysical parameters present for each of the five components of the biophysical profile and the Doppler indices, using Cochrans Q-test, Friedmans test and one way analysis of variance of repeated measures where appropriate. The statistical significance was defined as P<0.05. RESULTS The mean delivery time was 36.9(+/-1.8) weeks. There was a statistically significant difference in the frequency of the following findings in the pre- compared to post-steroid measurements: absence of body movements (48 h, P<0.05), non-reassuring fetal heart rate tracings (24, 48 and 72 h, P<0.05) and absence of breathing movements (24, 48 and 72 h, p<0.05). Initially none of the biophysical profile score was <or=6, whereas at 24, 48 and 72 h, 13.3, 76.7, 16.7% of them, respectively, were <or=6 (P<0.05). None of the Doppler indices was found to be affected by the steroid administration. CONCLUSION Maternal betamethasone administration can cause a significant but transient, reduction in biophysical profile scores, however the middle cerebral and umbilical artery Doppler indices were found to be unaffected suggesting the reliability of this modality for the evaluation of the fetuses previously exposed to the antenatal steroids.

Hyperlipidemic pancreatitis during pregnancy

A case of acute pancreatitis associated with type V hyperlipoproteinemia is reported. A 26-year-old-woman was referred to our department with nausea, vomiting, and severe abdominal pain at 24 weeks gestation. Elevation of pancreatic enzymes with profound hypertriglyceridemia (60 mmol/L) was noticed, and a diagnosis of hyperlipidemic pancreatitis was made on the day of admission. Because she had no history of non-gestational hyperlipidemia, the observed hyperlipidemia was thought to be gestational in origin. The treatment consisted of nasogastric decompression, intravenous hyperalimentation, insulin infusion, and plasma exchanges. Progressive abatement of the symptoms occured, and on the fifth day of admission, complete resolution was observed. On the seventh day of hospitalization, advancing preterm labor and associated fetal distress was diagnosed, which necessitated a cesarean delivery. The infant was lost due to severe immaturity. Pancreatic pseudocyst formation complicated the postpartum period, which was managed by percutaneous drainage. Early diagnosis, close monitoring, consistent supportive treatment and awareness of complications are the key points in the management of gestational pancreatitis.

Prenatal diagnosis of isolated non-compaction of the ventricular myocardium: Study of six cases

Background: Isolated non‐compaction of the ventricular myocardium (INVM) is characterized by prominent and excessive trabeculations in one or more ventricular wall segments, with deep intertrabecular recesses communicating directly with the ventricular cavities. Diagnosis of the disease is based on the 2‐D echocardiographic features. Despite the fact that many cases of INVM have been reported in children and adults since the initial description of the disease, it has been diagnosed in only a few fetuses up to now. Therefore, failure to diagnose on fetal echocardiography is probably more common. There are different opinions about diagnosis of INVM on fetal echocardiography.

Thrombosis of the internal jugular vein associated with severe ovarian hyperstimulation syndrome.

Ovarian hyperstimulation syndrome (OHSS) especially in its severe form is a potentially life-threatening complication of exogenous gonadotrophin therapy. Thromboembolism involving the leg veins and also major veins of the upper extremity has been previously associated with OHSS (14). Whilst venous compression due to enlarged ovaries and ascites coupled with immobilization were implicated as the major aetiological factors in lower extremity thrombosis, aetiology of jugular vein or subclavian vein thrombosis is less clear. We herein report a case of internal jugular vein thrombosis in a woman with severe OHSS.