Prenatal diagnosis

The obstetric care of a pregnancy, as it is practiced today, includes noninvasive screening approaches, as well as invasive procedures, for the definitive prenatal diagnosis of fetal disorders correlations between indications for prenatal cytogenetic diagnosis and results of the chromosomal analysis made upon fetal cells. The diagnosis of chromosomal abnormalities in fetuses is one of the most important challenges in modern perinatology.

This edition of our journal begins, at the obstetric section, with the issue of congenital heart malformations, the most common cause of fetal and infant mortality, with an incidence of 4-13 per 1000 live births. According to the Romanian Society of Obstetrics and Gynecology (SOGR), the evaluation of the fetal heart starting from the first trimester of pregnancy is mandatory, the purpose of this paper being to em­pha­size that most lesions involving the ejection tracts of the arteries at the base of the heart are associated with varying degrees of disruption of the alignment, arrangement, size, or number of the three vessels, thus with an abnormal appearance of the standard cross-section of three vessels.

The next paper brings to the front the prenatal diagnosis of micrognathia. The primary goals of this paper are to provide a comprehensive review of diverse diagnostic techniques for micro­gnathia and to suggest a clear and pragmatic prenatal approach to addressing this condition. Furthermore, relevant ultrasonographic pictures of fetal mi­cro­gnathia are presented from the personal database.

Holoprosencephaly is a brain abnormality resulting from an incomplete cleavage of the prosencephalon during early embryogenesis, uncontrolled maternal diabetes mellitus being the most well-known cause of holoprosencephaly.

Human T-cell leukemia virus 1 (HTLV-1), the first infectious agent proven to cause cancer, is considered among the most potent carcinogens for humans. In Romania, HTLV is included in the screening for blood donors, but not in prenatal screenings. The paper fo­cu­ses on the effectiveness of prenatal scre­ening followed by avoiding breastfeeding for reducing new cases of HTLV in endemic areas, and such measures must be taken in Romania as well.

Concerning fetal abdominal wall defects (AWDs), they refer to a variety of congenital anomalies characterized by the incomplete closure or disrup­tion of the abdominal wall in the early stages of embryonic development. The next article aims to enhance the understanding and familiarity of ultrasound practitioners and obstetricians with the spectrum of fetal abdominal wall defects and their prenatal sonographic appearance, thus facilitating improved prenatal care and patient counseling.

Moving on to the gynecology sec­tion, the first paper presents the case of a patient with a gynecopathy who was diagnosed with a giant isthmic-cervical fibromatous nodule that was developing within the cervix and required extended surgery. Isthmic-cervical leiomyomas can grow very large and cause extreme discomfort, the surgical removal of these being a technical challenge, with an increased risk of operative and postoperative complications.

Bartholin gland cysts account for 2% of all gynecologic visits per year, being an apparent common problem. Starting from the standard conduct of authors in Bartholin gland cyst, the article aims to review the current therapeutic techniques and to present a case report of an approach based on the excision of the gland.