Fetal Genetic Diagnosis by Chorionic Villus Sampling: Evaluation of the Five-Year Experience from a Single Center.

OBJECTIVE: We summarized our five-year chorionic villus sampling (CVS) experience with indications, detected chromosomal abnormalities and pregnancy outcomes. Materials and Methods: This retrospective study examined 552 patients underwent CVS for prenatal diagnosis between 2014 and 2018. Results: The most frequent patients undergoing CVS indications were abnormal aneuploidy screening results, increased nuchal translucency, and cystic hygroma/edema. Of 552 CVS, 385 were normal, 141 abnormal. Eight were contaminated with maternal cells, 4 were mosaics, in 12 the culture failed, and in 2 there was inadequate sampling. The most frequent chromosomal abnormalities were trisomy 21, trisomy 18 and 45,X. Of 246 followed pregnancies, there were 165 live-births (67,1%), 58 pregnancy terminations (23,6%), and 23 pregnancy losses (9,3%). There were 5 procedure-related losses (2%), 3 of which were chromosomally normal. Conclusion: Although significant advances have been made in noninvasive methods such as NIPT, CVS is still a reliable technique for cytogenetic diagnosis in early gestation.

Analysis of cystic hygroma diagnosed in the first trimester: Single-center experience

Objective: To evaluate the obstetric outcomes of fetuses with cystic hygroma other than karyotype abnormalities and structural malformations. Material and Methods: We conducted a retrospective study based on the review of medical records of pregnant women in whom ultrasonographic diagnosis of fetal cystic hygroma was established in the first trimester from January 2014 to October 2018. All patients were offered genetic counselling and prenatal invasive diagnostic procedures to obtain fetal karyotype. For ongoing pregnancies fetal echocardiography and detailed second trimester sonographic anomaly screening was performed by a perinatologist/pediatric cardiologist. The demographic characteristics of the women and the results of the karyotype analysis were obtained from the database of our hospital and correlated with the obstetric outcomes. Results: Within a five-year period, there were 106 cases of fetal cystic hygroma. Of those, fetal cardiac malformations were detected in four and micrognathia in one fetus. Eighty-five women underwent fetal invasive procedures and karyotype abnormalities were detected in 52 of the cases. Fetal outcomes of 33 cases with normal karyotype and 21 cases in whom karyotyping analysis were not performed due to patient refusal were enrolled into the study. Obstetric outcomes of 21 women who refused karyotyping consisted of 13 livebirths, seven missed abortions, and one fetal death, whereas those of 33 women with normal karyotype were; 12 livebirths, 12 missed abortions, two hydrops fetalis, and five fetal deaths. Nineteen of 33 fetuses with a normal karyotype and eight of 21 fetuses in whom karyotyping was not performed were terminated. Conclusion: The presence of cystic hygroma carries a high risk for fetal karyotype abnormalities and cardiac malformations. The postnatal outcomes of the fetuses with cystic hygroma appeared to be correlated with the absence of structural malformations and karyotype abnormalities.

A retrospective analysis of amniocenteses performed for advanced maternal age and various other indications in Turkish women.

OBJECTIVE: Prenatal cytogenetic diagnostic methods for the diagnosis of fetal chromosomal anomalies have been used reliably over the last 40 years. Advanced maternal age has become a basic indication for amniocentesis. METHODS: We examined the results of the chromosome analyses of 3485 women that had amniocentesis for any reason during their antenatal care in our perinatology clinic in 2007-2009. Amniocentesis was performed for advanced maternal age in 1456 women (41.8%) and for other reasons in the remaining 2029 women (58.2%). Chromosomal anomalies were examined numerically and structurally. RESULTS: When the amniocentesis results of the patients were reviewed as numerically normal or abnormal; 40 (2.7%) of 1456 amniocentesis procedures performed for advanced maternal age, 5 (0.9%) of 531 procedures performed for an increased double-test risk and 14 (1.3%) of 1095 procedures performed for an increased triple test risk were found to have chromosomal aneuploidy. CONCLUSIONS: Maternal age is still the most prevalent indication for genetic amniocentesis other than positive prenatal screening tests. Among women with advanced maternal age, prenatal ultrasonography for soft markers of chromosomal aneuploidy accompanied with maternal serum biochemical screening tests should be evaluated during the decision making process of genetic amniocentesis.

Role of oxidative stress in preeclampsia and intrauterine growth restriction.

AIM: The aim of the present study was to evaluate the role of oxidative stress and DNA damage in preeclampsia and intrauterine growth restriction (IUGR). MATERIAL AND METHODS: Twenty-four patients with preeclampsia, 20 patients with IUGR fetus and 37 healthy pregnant women were enrolled in the study. The total oxidant status (TOS) and antioxidant status (TAS) of plasma were measured using a novel automated colorimetric measurement method. Sister chromatid exchange (SCE) and micronuclei analysis were performed on peripheral blood lymphocytes of cases and controls. RESULTS: Women whose pregnancies were complicated with preeclampsia and IUGR had elevated levels of TOS and TAS when compared with healthy pregnant women (median TOS values: 9.73, 10.6 and 8.06, P = 0.001; median TAS values: 1. 77, 1.54 and 1.44, P < 0.001, respectively). The frequencies of SCE were only found to be increased in women with IUGR fetus compared with healthy pregnant women (8.81 vs 7.5, respectively, P = 0.02). Multivariable linear regression analysis for both TOS and TAS showed a significant relation between these variables and uric acid. CONCLUSION: Increased oxidative stress and antioxidative defense mechanisms may contribute to disease processes both in preeclampsia and IUGR.