Chapters authored
Screening (Bi Test, Triple Test, Panorama Test) and Amniocentesis for Early Diagnosis of Congenital Malformations
The genetic consult is very important in the diagnosis of early fetal malformations and its complications at birth and after it. Our research is based on a 3-year research on 6097 pregnant women who underwent screening Bi-Test or Triple Test. We discovered 408 pregnant women who were found positive and needed amniocentesis for a diagnostic of certitude. Out of them, 14 had a positive result from which 10 were found with Down syndrome and 4 with Edwards syndrome. In Romania, amniocentesis has become the most used method of prenatal diagnosis for pregnant women at 35 or above with a family history of hereditary congenital anomalies. However, the latest screening test from maternal blood, the Panorama test, can discover many malformations (for chromosomes 21, 18, and 13 and the abnormality of the sex chromosome). The accuracy for false positive is 2% and false negative 98%. In that light, the purpose of our study is to decrease the use of amniocentesis and to introduce the latest tests (Panoramic) for the early diagnosis of fetal malformation, the use of maternal blood, and the avoidance of using invasive medical procedures.
Part of the book: Modern Medical Genetics and Genomics
Myo-Inositol (ProFecund Ino) – Obtaining a Pregnancy in Women with Polycystic Ovary Syndrome
Polycystic ovary syndrome (PCOS), affecting 5–10% of women, is characterized by irregular ovulation and excess androgen hormones. The multifactorial causes include hormonal imbalances, insulin resistance, genetics, and obesity. Diagnosis involves identifying criteria like oligo/anovulation, hyperandrogenism, and micropolycystic ovarian appearance. Traditional treatments include progesterone-based medication and oral contraceptives. However, fertility-focused treatments such as clomiphene, metformin, purified FSH, or LH are administered for those seeking to restore fertility. This article explores “ProFecund Ino,” a myo-inositol-based treatment for PCOS. It touts benefits such as improved hormonal balance, regulated menstrual cycles, stimulated ovulation, enhanced insulin sensitivity, and positive effects on the nervous system. The study involving 200 women with PCOS showed a 38% pregnancy rate with ProFecund Ino and additional pregnancies resulted from ovarian stimulation and IVF procedures. The conclusion underscores the efficacy of myo-inositol-based treatments in conjunction with assisted reproductive techniques, significantly increasing pregnancy chances for women with PCOS.
Part of the book: Polycystic Ovary Syndrome