Retrospective analysis of prenatal invasive diagnostic procedures in a tertiary center

Abstract

Objective: This study aimed to analyze the indications and outcomes of prenatal invasive diagnostic procedures performed in a single tertiary center.
 Materials and Methods: The invasive procedure indications and karyotype results of 1666 pregnant women who underwent prenatal invasive procedures between March 2016 and November 2018 were retrospectively analyzed. The indications and results of prenatal invasive diagnostic procedures were recorded.
 Results: Amniocentesis (AS) was performed to 1060 (63.6%) patients, corion villus sampling (CVS) to 299 (17.9%), and cordocentesis (CS) to 307 (18.4%) patients. Among the prenatal invasive procedure indications, the most frequent indication was abnormal ultrasound (US) findings, with a rate of 48.3% (n= 805). A normal karyotype was detected in 85% (n= 1416) of the cases, and chromosomal abnormality was detected in 12.2% (n= 204) of the cases. Abnormal karyotype results were found in 111 (10.5%) of 1060 patients who underwent AS, 87 (29.1%) of 299 patients who underwent CVS, and 52 (16.9%) of 307 patients who underwent CS. Among the numerical chromosomal abnormalities, trisomy 21 was the most common abnormality with a rate of 46% (94/204), while inversions were the most common abnormality of structural chromosomal abnormalities at 8.8% (18/204).
 Conclusion: The results of the current study show that AS is the most common prenatal diagnostic invasive procedure. We obtained the highest fetal chromosomal anomaly rate in patients who experienced CVS. Abnormal US findings were the most common prenatal invasive diagnostic procedure indication in our study. Choosing the most appropriate invasive procedure is related to the obstetricians' experience, medical history of the patient, the gestational week at admission, maternal prenatal serum screening test results, and abnormal US findings.

Fetal left ventricular myocardial performance index measured at 11–14 weeks of gestation in fetuses with an increased nuchal translucency

“…The assessment of NT thickness during the early weeks of gestation is a powerful tool for evaluating the risk of fetal chromosomal abnormalities. Extensive research has proposed that an increase in NT thickness is significantly and positively correlated with the majority of fetal malformations, including congenital heart defects (CHDs) and genetic syndromes 2,3 . Thus, an increase in NT thickness could be useful as an indication that is included in a fetal cardiac evaluation and would help improve prenatal detection rates of CHDs 4 .…”

“…Extensive research has proposed that an increase in NT thickness is significantly and positively correlated with the majority of fetal malformations, including congenital heart defects (CHDs) and genetic syndromes. 2,3 Thus, an increase in NT thickness could be useful as an indication that is included in a fetal cardiac evaluation and would help improve prenatal detection rates of CHDs. 4 Fetuses with increased NT thickness with normal karyotypes are still at risk for genetic syndromes and structural abnormalities.…”