ABSTRACT
Background: The coexistence of a hydatidiform mole and a fetus can occur in a multiple pregnancy, being less frequent in triplets and quadruplets because of their infrequency. With assisted reproduction, multiple pregnancies are becoming more frequent, and we can expect more frequent coexistence with a molar pregnancy. Case report: This G3, P1 30-year-old mother, after assisted conception, was diagnosed with a quadruplet pregnancy, one of which was a molar conceptus. Due to the potential for malignancy, the pregnancy was electively terminated. Conclusion: Despite the difficulty in conceiving, elective termination of a multiple pregnancy associated with a molar pregnancy may be the most judicious course of action to protect the mother's life.
Subject(s)
Hydatidiform Mole , Pregnancy, Quadruplet , Uterine Neoplasms , Pregnancy , Female , Humans , Aged, 80 and over , Uterine Neoplasms/complications , Uterine Neoplasms/diagnosis , Uterine Neoplasms/pathology , Hydatidiform Mole/diagnosis , Hydatidiform Mole/pathology , Pregnancy, Multiple , Fetus/pathologyABSTRACT
OBJECTIVE: The objective of this study was to report the first case of prenatal diagnosis of the fetal 20p13 microdeletion syndrome in the literature. CASE REPORT: The mother was 31 years old and had a first trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound at 23 weeks of gestation showed mild ventriculomegaly (10.2 mm) and absent septum pellucidum. She underwent amniocentesis because of the abnormal imaging results. Karyotype analysis revealed normal results. Chromosome microarray analysis (CMA) was then performed to provide genetic analysis of the fetus and parents. CMA detected 317.902 kb deletion of 20p13 in fetus. Finally, pregnancy was terminated at 32 weeks of gestation. CONCLUSION: This study is the first to report the prenatal diagnosis of a 20p13 microdeletion syndrome. Our results further confirmed that genes in this region, including SOX12, NRSN2 are essential for normal fetal growth and TBC1D20 for normal brain development.
Subject(s)
Chromosome Disorders/diagnosis , Prenatal Diagnosis/methods , Abortion, Induced , Adult , Amniocentesis , Chromosome Deletion , Chromosome Disorders/embryology , Chromosome Disorders/genetics , Chromosomes, Human, Pair 20/genetics , Female , Humans , Karyotyping , PregnancyABSTRACT
Objective: To evaluate whether systemic inflammatory markers (neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR) and red blood cell distribution width (RDW) to platelet ratio (RPR)) can be used as reliable markers for the diagnosis of premature ovarian insufficiency (POI) and to determine if there is a relationship between these markers and follicle stimulating hormone (FSH), Anti-Müllerian Hormone (AMH) levels. Materials and methods: Written and electronic medical records were reviewed using searches for diagnoses with the terms of 'premature ovarian failure', 'premature ovarian insufficiency'. Patients younger than the age of 40 were diagnosed to have premature ovarian insufficiency based on their menstrual history and sonographic examination and they were compared with healthy females. Complete blood counts, day-3 hormone profiles, AMH levels of all subjects were analyzed. Results: NLR was statistically higher in POI group compared with controls (p < 0.05). NLR had a positive correlation between FSH (r = 0.23, p = 0.045) and a negative association with AMH (r = - 0.27, p = 0.018). The area under ROC curve for NLR in POI was 0.66, with a threshold value 1.5 and sensitivity = 75.7 % and specificity = 46.0 %. Conclusion: NLR can be a marker for the diagnosis of POI. There is a close relationship between NLR and ovarian reserve markers such as FSH and AMH.
